Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5310
Gene name	Polycystin 1, transient receptor potential channel interacting
Gene symbol	PKD1
Synonyms (NCBI Gene)	PBPPC1Pc-1TRPP1eliosin
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulat

245

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1616940	A>G,T	Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs2855341	C>T	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs34495017	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs58598099	A>G	Likely-pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs138871063	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs139945204	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145263744	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs148812376	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs199476099	C>A,T	Likely-pathogenic, benign	Genic upstream transcript variant, missense variant, coding sequence variant
rs199476100	A>G	Likely-pathogenic, pathogenic	Missense variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs199476101	G>A	Pathogenic	Stop gained, coding sequence variant
rs200001471	C>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs200360336	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs200520583	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs202110519	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs374629549	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs377029031	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs539793378	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs558648661	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs566014072	C>A,G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs573566419	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs747362311	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs747483368	G>A,C	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant, upstream transcript variant
rs747638599	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs750780241	G>A,C,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs750798165	T>A,C	Pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs750913623	G>A,C,T	Pathogenic	Missense variant, synonymous variant, stop gained, coding sequence variant
rs752356523	G>A,C,T	Likely-benign, likely-pathogenic	Missense variant, stop gained, genic upstream transcript variant, coding sequence variant
rs754333013	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs755878230	T>A,C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs757768731	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs762003393	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs765094547	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs774453006	G>A,C	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, missense variant
rs775710328	G>A,T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant, missense variant
rs777024498	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs778028967	ATCCGCCTGGGCCGCCGCAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs779227133	G>A,C	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, missense variant
rs779745348	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs780009030	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs796052133	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs869312944	TGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs886041836	A>C,G	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs942694907	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1057516202	GCT>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1057516206	A>T	Pathogenic	Stop gained, coding sequence variant
rs1057518001	C>A	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1057518604	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518783	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057518856	A>C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057518897	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057518899	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057518923	->C	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1057518976	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1060499699	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1060499704	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794206	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1064794207	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs1114167366	AC>-	Pathogenic	Intron variant, splice donor variant
rs1114167370	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1174034883	C>T	Pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1197421698	CCCAGCCCAGGACCCCCAG>-	Pathogenic	Intron variant
rs1205064584	C>T	Pathogenic	Coding sequence variant, stop gained
rs1222094213	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1232180956	T>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant
rs1238351274	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1264176877	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1282205691	C>A,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1286585831	G>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, stop gained
rs1303102528	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1352019198	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1364976535	G>A	Pathogenic	Stop gained, coding sequence variant
rs1377414968	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1383556063	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1401015526	G>T	Pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1416011785	C>A,T	Pathogenic	Intron variant, missense variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1420757773	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1485297878	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1555448106	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555449235	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555449635	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555449642	C>T	Likely-pathogenic	Splice acceptor variant
rs1555450424	GCC>T	Pathogenic	Stop gained, inframe indel, coding sequence variant
rs1555450475	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555450487	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555450672	->CACCCTGGAGTGAC	Pathogenic	Frameshift variant, coding sequence variant
rs1555450920	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555450968	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555451093	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555451143	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555451368	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555451430	C>T	Pathogenic	Splice acceptor variant
rs1555452047	->C	Pathogenic	Coding sequence variant, splice acceptor variant
rs1555452400	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555452653	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555452738	GCCAAAGACCT>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1555454460	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555454467	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555454512	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555454604	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555454606	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555454620	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555454739	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555454847	CAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1555454886	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555454915	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555455279	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555455453	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555455457	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555455797	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555455998	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555456139	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555456208	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555456661	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555456744	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555457446	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555457482	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555457488	T>C	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1555457807	->GGCAG	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1555458032	G>A,T	Pathogenic, uncertain-significance	Upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant, stop gained
rs1555458413	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555458891	AC>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555459001	CACGAGCTCCA>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555459056	GGCATCCACCTCGGCGGAGCCGTCT>ATCCA	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555459084	AG>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555459108	CCAGAGG>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555459345	A>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, intron variant, coding sequence variant
rs1555462433	C>G	Pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs1567164013	GAT>A	Pathogenic	Frameshift variant, coding sequence variant
rs1567165997	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1567166045	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567169118	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1567169638	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567171059	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567171182	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567171493	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1567173924	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567173968	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567174997	->T	Pathogenic	Stop gained, coding sequence variant
rs1567176750	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567177684	A>G	Pathogenic	Missense variant, coding sequence variant
rs1567177760	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567177764	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1567178000	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567180636	CT>-	Pathogenic	Splice acceptor variant
rs1567180640	T>C	Pathogenic	Splice acceptor variant
rs1567182193	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567183633	->AC	Pathogenic	Frameshift variant, coding sequence variant
rs1567183784	TGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567184366	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567194928	C>GGT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567195059	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567195285	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567195868	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567196052	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1567196314	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567198410	->CCCTCTAT	Likely-pathogenic	Stop gained, inframe insertion, coding sequence variant
rs1567200098	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1567200117	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567200516	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567201083	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567201338	GAAG>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1567201999	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567202189	->GTG	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1567202350	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567202750	TGT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1567204146	TCAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567204631	C>G,T	Pathogenic	Splice acceptor variant
rs1567205637	CTGGGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567206560	ACCTCCACGGCC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1567206632	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567206904	A>GGG	Pathogenic	Frameshift variant, coding sequence variant
rs1567207841	->GG	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567208136	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567209616	TCGGGGCTGGGCGTGGCGCGGAGGCC>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1567210080	AG>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1567210630	->G	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1567211181	CAGGCAGGGCA>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1567211807	C>G	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1567212531	G>-,GG	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567213083	->G	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567213901	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567214052	T>C	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1567214706	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs1567215590	G>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567215646	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567215697	GAAGCCGATCC>-	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1567216323	CACGGCGGGA>GT	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567216472	C>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1567216536	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1567216675	GC>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567217194	TGTCCCC>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567217428	->AG	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567218104	->AG	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567219111	C>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1567219155	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567219735	G>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1596501163	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1596501702	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596501760	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596503384	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596512492	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596512729	GTGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596512769	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1596514027	C>T	Pathogenic	Coding sequence variant, stop gained
rs1596514864	->GATCCGGAAGATGTCCAGGCTGTTGCGGTGGAAGGCTCTGTCGCCGTCCAGGTGCCGGTGGC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596515137	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1596520985	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1596521250	TCCGCTGTCGGCTCCTGTGAGGACACA>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1596522636	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1596523677	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1596525695	CGGCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596527370	ATGCGCATGAGG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1596527579	ATCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596527744	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596536505	A>G	Likely-pathogenic	Splice donor variant
rs1596536546	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596536873	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596538804	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1596553527	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596555170	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1596555413	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596555896	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1596556375	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596556800	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596557065	G>A	Pathogenic	Coding sequence variant, stop gained
rs1596557266	G>A	Pathogenic	Coding sequence variant, stop gained
rs1596557533	->TGACG	Pathogenic	Coding sequence variant, frameshift variant
rs1596557742	->T	Pathogenic	Coding sequence variant, stop gained
rs1596558405	C>T	Pathogenic	Coding sequence variant, stop gained
rs1596560540	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596561773	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596563657	G>A	Pathogenic	Coding sequence variant, stop gained
rs1596566156	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596574774	GGGC>-	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1596574987	->TC	Pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1596575646	GACA>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1596575921	AGAGTCCACC>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1596580473	TCC>CA	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1596580483	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs1596582948	C>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1596588606	C>T	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs1596588978	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1596590005	ACCAGGGTGGCCCCTGGGGAGGCAGGGAAGACGTGCTGGAGGAGGGTGGGGCCCC>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1596591955	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained

524

Show/Hide all (524)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043090	hsa-miR-324-5p	CLASH	23622248
MIRT041636	hsa-miR-484	CLASH	23622248
MIRT040353	hsa-miR-615-3p	CLASH	23622248
MIRT438843	hsa-miR-451a	qRT-PCR	23294929
MIRT438840	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT438812	hsa-miR-20a-5p	Luciferase reporter assay	23344677
MIRT438812	hsa-miR-20a-5p	Luciferase reporter assay	23344677
MIRT438812	hsa-miR-20a-5p	Luciferase reporter assay	23344677
MIRT438812	hsa-miR-20a-5p	Luciferase reporter assay	23344677
MIRT438843	hsa-miR-451a	qRT-PCR	23294929
MIRT438840	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT438812	hsa-miR-20a-5p	Luciferase reporter assay	23344677
MIRT438812	hsa-miR-20a-5p	Luciferase reporter assay	23344677
MIRT438812	hsa-miR-20a-5p	Luciferase reporter assay	23344677
MIRT438812	hsa-miR-20a-5p	Luciferase reporter assay	23344677
MIRT611973	hsa-miR-8485	HITS-CLIP	22927820
MIRT706074	hsa-miR-888-3p	HITS-CLIP	22927820
MIRT706073	hsa-miR-3914	HITS-CLIP	22927820
MIRT706072	hsa-miR-4688	HITS-CLIP	22927820
MIRT706071	hsa-miR-6743-5p	HITS-CLIP	22927820
MIRT706070	hsa-miR-6085	HITS-CLIP	22927820
MIRT706069	hsa-miR-6813-5p	HITS-CLIP	22927820
MIRT706068	hsa-miR-128-3p	HITS-CLIP	22927820
MIRT706067	hsa-miR-216a-3p	HITS-CLIP	22927820
MIRT706066	hsa-miR-3681-3p	HITS-CLIP	22927820
MIRT706065	hsa-miR-4270	HITS-CLIP	22927820
MIRT706064	hsa-miR-4441	HITS-CLIP	22927820
MIRT706063	hsa-miR-6754-5p	HITS-CLIP	22927820
MIRT706062	hsa-miR-6730-3p	HITS-CLIP	22927820
MIRT706061	hsa-miR-4462	HITS-CLIP	22927820
MIRT706060	hsa-miR-6132	HITS-CLIP	22927820
MIRT706059	hsa-miR-6836-5p	HITS-CLIP	22927820
MIRT706058	hsa-miR-1909-3p	HITS-CLIP	22927820
MIRT706057	hsa-miR-6722-3p	HITS-CLIP	22927820
MIRT706056	hsa-miR-185-5p	HITS-CLIP	22927820
MIRT706055	hsa-miR-4306	HITS-CLIP	22927820
MIRT706054	hsa-miR-4644	HITS-CLIP	22927820
MIRT706053	hsa-miR-5192	HITS-CLIP	22927820
MIRT706052	hsa-miR-1207-5p	HITS-CLIP	22927820
MIRT706051	hsa-miR-4763-3p	HITS-CLIP	22927820
MIRT706050	hsa-miR-4467	HITS-CLIP	22927820
MIRT706049	hsa-miR-6721-5p	HITS-CLIP	22927820
MIRT706048	hsa-miR-486-3p	HITS-CLIP	22927820
MIRT706047	hsa-miR-8065	HITS-CLIP	22927820
MIRT706046	hsa-miR-6824-5p	HITS-CLIP	22927820
MIRT706045	hsa-miR-6789-5p	HITS-CLIP	22927820
MIRT706044	hsa-miR-4278	HITS-CLIP	22927820
MIRT706043	hsa-miR-6770-3p	HITS-CLIP	22927820
MIRT706042	hsa-miR-4787-5p	HITS-CLIP	22927820
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611972	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT611971	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611969	hsa-miR-4292	HITS-CLIP	23824327
MIRT611968	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611966	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT611965	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT611964	hsa-miR-6090	HITS-CLIP	23824327
MIRT611963	hsa-miR-4300	HITS-CLIP	23824327
MIRT611962	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT611961	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT611960	hsa-miR-920	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611972	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT611971	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611969	hsa-miR-4292	HITS-CLIP	23824327
MIRT611968	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611966	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT611965	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT611964	hsa-miR-6090	HITS-CLIP	23824327
MIRT611963	hsa-miR-4300	HITS-CLIP	23824327
MIRT611962	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT611961	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT611960	hsa-miR-920	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT439963	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439962	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT439961	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT439963	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439962	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT439961	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT438840	hsa-miR-200c-3p	PAR-CLIP	26701625
MIRT438840	hsa-miR-200c-3p	PAR-CLIP	26701625
MIRT438840	hsa-miR-200c-3p	PAR-CLIP	26701625
MIRT438840	hsa-miR-200c-3p	PAR-CLIP	26701625
MIRT438840	hsa-miR-200c-3p	PAR-CLIP	26701625
MIRT438840	hsa-miR-200c-3p	PAR-CLIP	26701625
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	27418678
MIRT611973	hsa-miR-8485	HITS-CLIP	27418678
MIRT737500	hsa-miR-182-5p	Western blottingImmunoprecipitaion (IP)ImmunofluorescenceqRT-PCR	32724471
MIRT611973	hsa-miR-8485	HITS-CLIP	22927820
MIRT706074	hsa-miR-888-3p	HITS-CLIP	22927820
MIRT706073	hsa-miR-3914	HITS-CLIP	22927820
MIRT706072	hsa-miR-4688	HITS-CLIP	22927820
MIRT706071	hsa-miR-6743-5p	HITS-CLIP	22927820
MIRT706070	hsa-miR-6085	HITS-CLIP	22927820
MIRT706069	hsa-miR-6813-5p	HITS-CLIP	22927820
MIRT706068	hsa-miR-128-3p	HITS-CLIP	22927820
MIRT706067	hsa-miR-216a-3p	HITS-CLIP	22927820
MIRT706066	hsa-miR-3681-3p	HITS-CLIP	22927820
MIRT706065	hsa-miR-4270	HITS-CLIP	22927820
MIRT706064	hsa-miR-4441	HITS-CLIP	22927820
MIRT706063	hsa-miR-6754-5p	HITS-CLIP	22927820
MIRT706062	hsa-miR-6730-3p	HITS-CLIP	22927820
MIRT706061	hsa-miR-4462	HITS-CLIP	22927820
MIRT706060	hsa-miR-6132	HITS-CLIP	22927820
MIRT706059	hsa-miR-6836-5p	HITS-CLIP	22927820
MIRT706058	hsa-miR-1909-3p	HITS-CLIP	22927820
MIRT706057	hsa-miR-6722-3p	HITS-CLIP	22927820
MIRT706056	hsa-miR-185-5p	HITS-CLIP	22927820
MIRT706055	hsa-miR-4306	HITS-CLIP	22927820
MIRT706054	hsa-miR-4644	HITS-CLIP	22927820
MIRT706053	hsa-miR-5192	HITS-CLIP	22927820
MIRT706052	hsa-miR-1207-5p	HITS-CLIP	22927820
MIRT706051	hsa-miR-4763-3p	HITS-CLIP	22927820
MIRT706050	hsa-miR-4467	HITS-CLIP	22927820
MIRT706049	hsa-miR-6721-5p	HITS-CLIP	22927820
MIRT706048	hsa-miR-486-3p	HITS-CLIP	22927820
MIRT706047	hsa-miR-8065	HITS-CLIP	22927820
MIRT706046	hsa-miR-6824-5p	HITS-CLIP	22927820
MIRT706045	hsa-miR-6789-5p	HITS-CLIP	22927820
MIRT706044	hsa-miR-4278	HITS-CLIP	22927820
MIRT706043	hsa-miR-6770-3p	HITS-CLIP	22927820
MIRT706042	hsa-miR-4787-5p	HITS-CLIP	22927820
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611972	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT611971	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611969	hsa-miR-4292	HITS-CLIP	23824327
MIRT611968	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611966	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT611965	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT611964	hsa-miR-6090	HITS-CLIP	23824327
MIRT611963	hsa-miR-4300	HITS-CLIP	23824327
MIRT611962	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT611961	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT611960	hsa-miR-920	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611973	hsa-miR-8485	HITS-CLIP	23824327
MIRT611972	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT611971	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT611970	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT611969	hsa-miR-4292	HITS-CLIP	23824327
MIRT611968	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT611967	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT611966	hsa-miR-3192-5p	HITS-CLIP	23824327
MIRT611965	hsa-miR-6827-5p	HITS-CLIP	23824327
MIRT611964	hsa-miR-6090	HITS-CLIP	23824327
MIRT611963	hsa-miR-4300	HITS-CLIP	23824327
MIRT611962	hsa-miR-5591-5p	HITS-CLIP	23824327
MIRT611961	hsa-miR-6726-5p	HITS-CLIP	23824327
MIRT611960	hsa-miR-920	HITS-CLIP	23824327
MIRT611959	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT611958	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT611957	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT1237206	hsa-miR-3591-3p	CLIP-seq
MIRT1237207	hsa-miR-3960	CLIP-seq
MIRT1237208	hsa-miR-4643	CLIP-seq
MIRT1237209	hsa-miR-466	CLIP-seq
MIRT1237210	hsa-miR-4746-3p	CLIP-seq
MIRT1237211	hsa-miR-4789-3p	CLIP-seq
MIRT1237212	hsa-miR-4789-5p	CLIP-seq
MIRT1237213	hsa-miR-128	CLIP-seq
MIRT1237214	hsa-miR-139-3p	CLIP-seq
MIRT1237215	hsa-miR-185	CLIP-seq
MIRT1237216	hsa-miR-1909	CLIP-seq
MIRT1237217	hsa-miR-2110	CLIP-seq
MIRT1237218	hsa-miR-326	CLIP-seq
MIRT1237219	hsa-miR-330-5p	CLIP-seq
MIRT1237220	hsa-miR-3944-5p	CLIP-seq
MIRT1237221	hsa-miR-4271	CLIP-seq
MIRT1237222	hsa-miR-4667-5p	CLIP-seq
MIRT1237223	hsa-miR-4700-5p	CLIP-seq
MIRT1237224	hsa-miR-4725-3p	CLIP-seq
MIRT1237225	hsa-miR-4727-5p	CLIP-seq
MIRT1237226	hsa-miR-4749-3p	CLIP-seq
MIRT1237227	hsa-miR-4763-5p	CLIP-seq
MIRT1237228	hsa-miR-637	CLIP-seq
MIRT2069796	hsa-miR-125a-5p	CLIP-seq
MIRT2069797	hsa-miR-125b	CLIP-seq
MIRT2069798	hsa-miR-1275	CLIP-seq
MIRT1237213	hsa-miR-128	CLIP-seq
MIRT2069799	hsa-miR-1324	CLIP-seq
MIRT1237214	hsa-miR-139-3p	CLIP-seq
MIRT1237215	hsa-miR-185	CLIP-seq
MIRT1237216	hsa-miR-1909	CLIP-seq
MIRT2069800	hsa-miR-1913	CLIP-seq
MIRT2069801	hsa-miR-1915	CLIP-seq
MIRT2069802	hsa-miR-2467-5p	CLIP-seq
MIRT2069803	hsa-miR-3151	CLIP-seq
MIRT2069804	hsa-miR-3194-5p	CLIP-seq
MIRT2069805	hsa-miR-324-3p	CLIP-seq
MIRT2069806	hsa-miR-3647-3p	CLIP-seq
MIRT1237207	hsa-miR-3960	CLIP-seq
MIRT2069807	hsa-miR-4274	CLIP-seq
MIRT2069808	hsa-miR-4319	CLIP-seq
MIRT2069809	hsa-miR-4447	CLIP-seq
MIRT2069810	hsa-miR-4466	CLIP-seq
MIRT2069811	hsa-miR-4472	CLIP-seq
MIRT2069812	hsa-miR-4519	CLIP-seq
MIRT2069813	hsa-miR-4524	CLIP-seq
MIRT2069814	hsa-miR-4525	CLIP-seq
MIRT2069815	hsa-miR-4530	CLIP-seq
MIRT2069816	hsa-miR-4651	CLIP-seq
MIRT2069817	hsa-miR-4665-5p	CLIP-seq
MIRT2069818	hsa-miR-4672	CLIP-seq
MIRT2069819	hsa-miR-4706	CLIP-seq
MIRT2069820	hsa-miR-4723-5p	CLIP-seq
MIRT2069821	hsa-miR-4732-3p	CLIP-seq
MIRT1237210	hsa-miR-4746-3p	CLIP-seq
MIRT2069822	hsa-miR-4749-5p	CLIP-seq
MIRT2069823	hsa-miR-4786-3p	CLIP-seq
MIRT2069824	hsa-miR-4795-5p	CLIP-seq
MIRT2069825	hsa-miR-608	CLIP-seq
MIRT2069826	hsa-miR-625	CLIP-seq
MIRT2069827	hsa-miR-670	CLIP-seq
MIRT2069828	hsa-miR-675	CLIP-seq
MIRT2069829	hsa-miR-744	CLIP-seq
MIRT2297084	hsa-miR-106a	CLIP-seq
MIRT2297085	hsa-miR-106b	CLIP-seq
MIRT2297086	hsa-miR-1224-5p	CLIP-seq
MIRT2069796	hsa-miR-125a-5p	CLIP-seq
MIRT2069797	hsa-miR-125b	CLIP-seq
MIRT1237213	hsa-miR-128	CLIP-seq
MIRT2069799	hsa-miR-1324	CLIP-seq
MIRT1237214	hsa-miR-139-3p	CLIP-seq
MIRT2297087	hsa-miR-17	CLIP-seq
MIRT1237215	hsa-miR-185	CLIP-seq
MIRT1237216	hsa-miR-1909	CLIP-seq
MIRT2069801	hsa-miR-1915	CLIP-seq
MIRT2297088	hsa-miR-200b	CLIP-seq
MIRT2297089	hsa-miR-200c	CLIP-seq
MIRT2297090	hsa-miR-20a	CLIP-seq
MIRT2297091	hsa-miR-20b	CLIP-seq
MIRT1237217	hsa-miR-2110	CLIP-seq
MIRT2069802	hsa-miR-2467-5p	CLIP-seq
MIRT2297092	hsa-miR-302a	CLIP-seq
MIRT2297093	hsa-miR-302b	CLIP-seq
MIRT2297094	hsa-miR-302c	CLIP-seq
MIRT2297095	hsa-miR-302d	CLIP-seq
MIRT2297096	hsa-miR-302e	CLIP-seq
MIRT2069803	hsa-miR-3151	CLIP-seq
MIRT1237218	hsa-miR-326	CLIP-seq
MIRT1237219	hsa-miR-330-5p	CLIP-seq
MIRT2297097	hsa-miR-3609	CLIP-seq
MIRT2297098	hsa-miR-372	CLIP-seq
MIRT2297099	hsa-miR-373	CLIP-seq
MIRT1237220	hsa-miR-3944-5p	CLIP-seq
MIRT1237207	hsa-miR-3960	CLIP-seq
MIRT2297100	hsa-miR-4269	CLIP-seq
MIRT1237221	hsa-miR-4271	CLIP-seq
MIRT2069808	hsa-miR-4319	CLIP-seq
MIRT2069815	hsa-miR-4530	CLIP-seq
MIRT2069816	hsa-miR-4651	CLIP-seq
MIRT1237222	hsa-miR-4667-5p	CLIP-seq
MIRT2297101	hsa-miR-4690-5p	CLIP-seq
MIRT1237223	hsa-miR-4700-5p	CLIP-seq
MIRT2297102	hsa-miR-4718	CLIP-seq
MIRT1237224	hsa-miR-4725-3p	CLIP-seq
MIRT2069821	hsa-miR-4732-3p	CLIP-seq
MIRT1237210	hsa-miR-4746-3p	CLIP-seq
MIRT1237226	hsa-miR-4749-3p	CLIP-seq
MIRT2297103	hsa-miR-4751	CLIP-seq
MIRT1237227	hsa-miR-4763-5p	CLIP-seq
MIRT2297104	hsa-miR-4783-5p	CLIP-seq
MIRT2069823	hsa-miR-4786-3p	CLIP-seq
MIRT2297105	hsa-miR-4796-3p	CLIP-seq
MIRT2297106	hsa-miR-512-3p	CLIP-seq
MIRT2297107	hsa-miR-519d	CLIP-seq
MIRT2297108	hsa-miR-520a-3p	CLIP-seq
MIRT2297109	hsa-miR-520b	CLIP-seq
MIRT2297110	hsa-miR-520c-3p	CLIP-seq
MIRT2297111	hsa-miR-520d-3p	CLIP-seq
MIRT2297112	hsa-miR-520e	CLIP-seq
MIRT2297113	hsa-miR-542-5p	CLIP-seq
MIRT2297114	hsa-miR-544b	CLIP-seq
MIRT2297115	hsa-miR-548ah	CLIP-seq
MIRT2297116	hsa-miR-548h	CLIP-seq
MIRT2297117	hsa-miR-548j	CLIP-seq
MIRT2069825	hsa-miR-608	CLIP-seq
MIRT1237228	hsa-miR-637	CLIP-seq
MIRT2069827	hsa-miR-670	CLIP-seq
MIRT2297118	hsa-miR-93	CLIP-seq
MIRT1237213	hsa-miR-128	CLIP-seq
MIRT1237214	hsa-miR-139-3p	CLIP-seq
MIRT1237216	hsa-miR-1909	CLIP-seq
MIRT2594432	hsa-miR-1202	CLIP-seq
MIRT1237213	hsa-miR-128	CLIP-seq
MIRT2069799	hsa-miR-1324	CLIP-seq
MIRT1237214	hsa-miR-139-3p	CLIP-seq
MIRT2594433	hsa-miR-15a	CLIP-seq
MIRT2594434	hsa-miR-15b	CLIP-seq
MIRT2594435	hsa-miR-16	CLIP-seq
MIRT1237215	hsa-miR-185	CLIP-seq
MIRT1237216	hsa-miR-1909	CLIP-seq
MIRT2594436	hsa-miR-195	CLIP-seq
MIRT2594437	hsa-miR-214	CLIP-seq
MIRT2594438	hsa-miR-3065-3p	CLIP-seq
MIRT2594439	hsa-miR-3135	CLIP-seq
MIRT2594440	hsa-miR-3136-3p	CLIP-seq
MIRT2594441	hsa-miR-3166	CLIP-seq
MIRT2594442	hsa-miR-3178	CLIP-seq
MIRT2594443	hsa-miR-3192	CLIP-seq
MIRT2069804	hsa-miR-3194-5p	CLIP-seq
MIRT2594444	hsa-miR-361-3p	CLIP-seq
MIRT2594445	hsa-miR-3619-5p	CLIP-seq
MIRT2594446	hsa-miR-3620	CLIP-seq
MIRT2594447	hsa-miR-370	CLIP-seq
MIRT2594448	hsa-miR-3922-5p	CLIP-seq
MIRT2594449	hsa-miR-3972	CLIP-seq
MIRT2594450	hsa-miR-424	CLIP-seq
MIRT2594451	hsa-miR-4313	CLIP-seq
MIRT2594452	hsa-miR-4486	CLIP-seq
MIRT2069815	hsa-miR-4530	CLIP-seq
MIRT2594453	hsa-miR-4540	CLIP-seq
MIRT2594454	hsa-miR-4650-5p	CLIP-seq
MIRT2297101	hsa-miR-4690-5p	CLIP-seq
MIRT2594455	hsa-miR-4753-5p	CLIP-seq
MIRT2594456	hsa-miR-4769-3p	CLIP-seq
MIRT2594457	hsa-miR-497	CLIP-seq
MIRT2594458	hsa-miR-554	CLIP-seq
MIRT2594459	hsa-miR-614	CLIP-seq
MIRT2594460	hsa-miR-661	CLIP-seq
MIRT2594461	hsa-miR-761	CLIP-seq
MIRT2594437	hsa-miR-214	CLIP-seq
MIRT2069804	hsa-miR-3194-5p	CLIP-seq
MIRT2594445	hsa-miR-3619-5p	CLIP-seq
MIRT2594461	hsa-miR-761	CLIP-seq
MIRT2594432	hsa-miR-1202	CLIP-seq
MIRT2687949	hsa-miR-1228	CLIP-seq
MIRT1237213	hsa-miR-128	CLIP-seq
MIRT2687950	hsa-miR-1321	CLIP-seq
MIRT2069799	hsa-miR-1324	CLIP-seq
MIRT1237214	hsa-miR-139-3p	CLIP-seq
MIRT2594433	hsa-miR-15a	CLIP-seq
MIRT2594434	hsa-miR-15b	CLIP-seq
MIRT2594435	hsa-miR-16	CLIP-seq
MIRT1237215	hsa-miR-185	CLIP-seq
MIRT1237216	hsa-miR-1909	CLIP-seq
MIRT2594436	hsa-miR-195	CLIP-seq
MIRT2594437	hsa-miR-214	CLIP-seq
MIRT2594438	hsa-miR-3065-3p	CLIP-seq
MIRT2594439	hsa-miR-3135	CLIP-seq
MIRT2594440	hsa-miR-3136-3p	CLIP-seq
MIRT2594441	hsa-miR-3166	CLIP-seq
MIRT2687951	hsa-miR-3176	CLIP-seq
MIRT2594442	hsa-miR-3178	CLIP-seq
MIRT2069804	hsa-miR-3194-5p	CLIP-seq
MIRT1237218	hsa-miR-326	CLIP-seq
MIRT1237219	hsa-miR-330-5p	CLIP-seq
MIRT2687952	hsa-miR-3605-5p	CLIP-seq
MIRT2594444	hsa-miR-361-3p	CLIP-seq
MIRT2594445	hsa-miR-3619-5p	CLIP-seq
MIRT2594447	hsa-miR-370	CLIP-seq
MIRT2687953	hsa-miR-3922-3p	CLIP-seq
MIRT2594448	hsa-miR-3922-5p	CLIP-seq
MIRT2594449	hsa-miR-3972	CLIP-seq
MIRT2594450	hsa-miR-424	CLIP-seq
MIRT2594451	hsa-miR-4313	CLIP-seq
MIRT2594452	hsa-miR-4486	CLIP-seq
MIRT2069815	hsa-miR-4530	CLIP-seq
MIRT2594453	hsa-miR-4540	CLIP-seq
MIRT2594454	hsa-miR-4650-5p	CLIP-seq
MIRT1237222	hsa-miR-4667-5p	CLIP-seq
MIRT2297101	hsa-miR-4690-5p	CLIP-seq
MIRT1237223	hsa-miR-4700-5p	CLIP-seq
MIRT2687954	hsa-miR-4739	CLIP-seq
MIRT2594455	hsa-miR-4753-5p	CLIP-seq
MIRT2687955	hsa-miR-4756-5p	CLIP-seq
MIRT2594456	hsa-miR-4769-3p	CLIP-seq
MIRT2594457	hsa-miR-497	CLIP-seq
MIRT2594458	hsa-miR-554	CLIP-seq
MIRT2594459	hsa-miR-614	CLIP-seq
MIRT2687956	hsa-miR-619	CLIP-seq
MIRT1237228	hsa-miR-637	CLIP-seq
MIRT2594460	hsa-miR-661	CLIP-seq
MIRT2594461	hsa-miR-761	CLIP-seq

124

Show/Hide all (124)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001502	Process	Cartilage condensation	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0001889	Process	Liver development	IEA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0001892	Process	Embryonic placenta development	ISS
GO:0002133	Component	Polycystin complex	IEA
GO:0002133	Component	Polycystin complex	IPI	11901144
GO:0002133	Component	Polycystin complex	ISS
GO:0005261	Function	Monoatomic cation channel activity	IBA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IDA	27214281
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	ISS
GO:0005515	Function	Protein binding	IPI	10097141, 15563610, 19556541, 20168298, 20856870, 21642537, 24939912, 30093605, 37681898
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23001567, 30093605
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7663510
GO:0005929	Component	Cilium	IDA	28154160
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISO
GO:0005929	Component	Cilium	ISS
GO:0006611	Process	Protein export from nucleus	IEA
GO:0006611	Process	Protein export from nucleus	ISS
GO:0006816	Process	Calcium ion transport	IBA
GO:0006816	Process	Calcium ion transport	IDA	27214281
GO:0006816	Process	Calcium ion transport	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	TAS	10861291
GO:0007160	Process	Cell-matrix adhesion	TAS	7663510
GO:0007161	Process	Calcium-independent cell-matrix adhesion	TAS	10861291
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	27214281
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	ISO
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	ISS
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEP	11891195
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9326937
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010564	Process	Regulation of cell cycle process	IEA
GO:0016020	Component	Membrane	IDA	30093605
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10097141
GO:0016055	Process	Wnt signaling pathway	IDA	27214281
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	10770959
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0019901	Function	Protein kinase binding	IPI	17980165
GO:0019904	Function	Protein domain specific binding	IPI	9171830
GO:0021510	Process	Spinal cord development	IEP	11891195
GO:0021915	Process	Neural tube development	IEP	11891195
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030660	Component	Golgi-associated vesicle membrane	TAS
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0031982	Component	Vesicle	IEA
GO:0034405	Process	Response to fluid shear stress	IEA
GO:0034703	Component	Cation channel complex	IDA	30093605
GO:0034704	Component	Calcium channel complex	IDA	27214281
GO:0036303	Process	Lymph vessel morphogenesis	IEA
GO:0042813	Function	Wnt receptor activity	IDA	27214281
GO:0042995	Component	Cell projection	IEA
GO:0043009	Process	Chordate embryonic development	IEA
GO:0043588	Process	Skin development	IEP	11891195
GO:0044325	Function	Transmembrane transporter binding	IPI	9192675
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16311606
GO:0048565	Process	Digestive tract development	IEP	11891195
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IDA	12482949
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048806	Process	Genitalia development	IEP	11891195
GO:0050982	Process	Detection of mechanical stimulus	IEA
GO:0050982	Process	Detection of mechanical stimulus	ISS
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	IEP	11891195
GO:0051290	Process	Protein heterotetramerization	IDA	30093605
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	ISS
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:0060236	Process	Regulation of mitotic spindle organization	IEA
GO:0060428	Process	Lung epithelium development	IEP	11891195
GO:0060674	Process	Placenta blood vessel development	IEA
GO:0060674	Process	Placenta blood vessel development	ISS
GO:0061136	Process	Regulation of proteasomal protein catabolic process	IDA	23001567
GO:0061136	Process	Regulation of proteasomal protein catabolic process	IEA
GO:0061136	Process	Regulation of proteasomal protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IDA	15326289, 37681898
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	ISS
GO:0071941	Process	Nitrogen cycle metabolic process	IEA
GO:0072164	Process	Mesonephric tubule development	IEP	11891195
GO:0072177	Process	Mesonephric duct development	IEP	11891195
GO:0072205	Process	Metanephric collecting duct development	IEP	11891195
GO:0072218	Process	Metanephric ascending thin limb development	IEP	11891195
GO:0072237	Process	Metanephric proximal tubule development	IEP	11891195
GO:0072287	Process	Metanephric distal tubule morphogenesis	IEP	11891195
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	ISS
GO:0140494	Component	Migrasome	IDA	37681898
GO:0160040	Process	Mitocytosis	IDA	37681898
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	IDA	16311606

MIM	HGNC	e!Ensembl
601313	9008	ENSG00000008710

P98161

Protein name

Polycystin-1 (PC1) (Autosomal dominant polycystic kidney disease 1 protein)

Protein function

Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both PKD1 and PKD2 are required for channel activi

PDB

1B4R , 6A70

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13855	LRR_8	69 → 127	Leucine rich repeat	Repeat
PF01822	WSC	180 → 261	WSC domain	Domain
PF00801	PKD	275 → 346	PKD domain	Domain
PF00059	Lectin_C	425 → 532	Lectin C-type domain	Domain
PF00801	PKD	855 → 922	PKD domain	Domain
PF00801	PKD	1024 → 1116	PKD domain	Domain
PF00801	PKD	1129 → 1202	PKD domain	Domain
PF00801	PKD	1216 → 1285	PKD domain	Domain
PF00801	PKD	1299 → 1370	PKD domain	Domain
PF00801	PKD	1385 → 1456	PKD domain	Domain
PF00801	PKD	1472 → 1538	PKD domain	Domain
PF00801	PKD	1553 → 1622	PKD domain	Domain
PF00801	PKD	1637 → 1708	PKD domain	Domain
PF00801	PKD	1723 → 1792	PKD domain	Domain
PF00801	PKD	1807 → 1877	PKD domain	Domain
PF00801	PKD	1892 → 1961	PKD domain	Domain
PF00801	PKD	1976 → 2051	PKD domain	Domain
PF00801	PKD	2063 → 2135	PKD domain	Domain
PF02010	REJ	2171 → 2614	REJ domain	Family
PF01477	PLAT	3120 → 3231	PLAT/LH2 domain	Domain
PF08016	PKD_channel	3711 → 4113	Polycystin cation channel	Family

Sequence

MPPAAPARLALALGLGLWLGALAGGPGRGCGPCEPPCLCGPAPGAACRVNCSGRGLRTLG
PALRIPADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLEEGIFANLFNLSEI
NLSGNPFECDCGLAWLPRWAEEQQVRVVQPEAATCAGPGSLAGQPLLGIPLLDSGCGEEY
VACLPDNSSGTVAAVSFSAAHEGLLQPEACSAFCFSTGQGLAALSEQGWCLCGAAQPSSA
SFACLSLCSGPPPPPAPTCRGPTLLQHVFPASPGATLVGPHGPLASGQLAAFHIAAPLPV
TATRWDFGDGSAEVDAAGPAASHRYVLPGRYHVTAVLALGAGSALLGTDVQVEAAPAALE
LVCPSSVQSDESLDLSIQNRGGSGLEAAYSIVALGEEPARAVHPLCPSDTEIFPGNGHCY
RLVVEKAAWLQAQEQCQAWAGAALAMVDSPAVQRFLVSRVTRSLDVWIGFSTVQGVEVGP
APQGEAFSLESCQNWLPGEPHPATAEHCVRLGPTGWCNTDLCSAPHSYVCELQPGGPVQD
AENLLVGAPSGDLQGPLTPLAQQDGLSAPHEPVEVMVFPGLRLSREAFLTTAEFGTQELR
RPAQLRLQVYRLLSTAGTPENGSEPESRSPDNRTQLAPACMPGGRWCPGANICLPLDASC
HPQACANGCTSGPGLPGAPYALWREFLFSVPAGPPAQYSVTLHGQDVLMLPGDLVGLQHD
AGPGALLHCSPAPGHPGPRAPYLSANASSWLPHLPAQLEGTWACPACALRLLAATEQLTV
LLGLRPNPGLRLPGRYEVRAEVGNGVSRHNLSCSFDVVSPVAGLRVIYPAPRDGRLYVPT
NGSALVLQVDSGANATATARWPGGSVSARFENVCPALVATFVPGCPWETNDTLFSVVALP
WLSEGEHVVDVVVENSASRANLSLRVTAEEPICGLRATPSPEARVLQGVLVRYSPVVEAG
SDMVFRWTINDKQSLTFQNVVFNVIYQSAAVFKLSLTASNHVSNVTVNYNVTVERMNRMQ
GLQVSTVPAVLSPNATLALTAGVLVDSAVEVAFLWTFGDGEQALHQFQPPYNESFPVPDP
SVAQVLVEHNVMHTYAAPGEYLLTVLASNAFENLTQQVPVSVRASLPSVAVGVSDGVLVA
GRPVTFYPHPLPSPGGVLYTWDFGDGSPVLTQSQPAANHTYASRGTYHVRLEVNNTVSGA
AAQADVRVFEELRGLSVDMSLAVEQGAPVVVSAAVQTGDNITWTFDMGDGTVLSGPEATV
EHVYLRAQNCTVTVGAASPAGHLARSLHVLVFVLEVLRVEPAACIPTQPDARLTAYVTGN
PAHYLFDWTFGDGSSNTTVRGCPTVTHNFTRSGTFPLALVLSSRVNRAHYFTSICVEPEV
GNVTLQPERQFVQLGDEAWLVACAWPPFPYRYTWDFGTEEAAPTRARGPEVTFIYRDPGS
YLVTVTASNNISAANDSALVEVQEPVLVTSIKVNGSLGLELQQPYLFSAVGRGRPASYLW
DLGDGGWLEGPEVTHAYNSTGDFTVRVAGWNEVSRSEAWLNVTVKRRVRGLVVNASRTVV
PLNGSVSFSTSLEAGSDVRYSWVLCDRCTPIPGGPTISYTFRSVGTFNIIVTAENEVGSA
QDSIFVYVLQLIEGLQVVGGGRYFPTNHTVQLQAVVRDGTNVSYSWTAWRDRGPALAGSG
KGFSLTVLEAGTYHVQLRATNMLGSAWADCTMDFVEPVGWLMVAASPNPAAVNTSVTLSA
ELAGGSGVVYTWSLEEGLSWETSEPFTTHSFPTPGLHLVTMTAGNPLGSANATVEVDVQV
PVSGLSIRASEPGGSFVAAGSSVPFWGQLATGTNVSWCWAVPGGSSKRGPHVTMVFPDAG
TFSIRLNASNAVSWVSATYNLTAEEPIVGLVLWASSKVVAPGQLVHFQILLAAGSAVTFR
LQVGGANPEVLPGPRFSHSFPRVGDHVVSVRGKNHVSWAQAQVRIVVLEAVSGLQVPNCC
EPGIATGTERNFTARVQRGSRVAYAWYFSLQKVQGDSLVILSGRDVTYTPVAAGLLEIQV
RAFNALGSENRTLVLEVQDAVQYVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGS
PGQDTDEPRAEHSYLRPGDYRVQVNASNLVSFFVAQATVTVQVLACREPEVDVVLPLQVL
MRRSQRNYLEAHVDLRDCVTYQTEYRWEVYRTASCQRPGRPARVALPGVDVSRPRLVLPR
LALPVGHYCFVFVVSFGDTPLTQSIQANVTVAPERLVPIIEGGSYRVWSDTRDLVLDGSE
SYDPNLEDGDQTPLSFHWACVASTQREAGGCALNFGPRGSSTVTIPRERLAAGVEYTFSL
TVWKAGRKEEATNQTVLIRSGRVPIVSLECVSCKAQAVYEVSRSSYVYLEGRCLNCSSGS
KRGRWAARTFSNKTLVLDETTTSTGSAGMRLVLRRGVLRDGEGYTFTLTVLGRSGEEEGC
ASIRLSPNRPPLGGSCRLFPLGAVHALTTKVHFECTGWHDAEDAGAPLVYALLLRRCRQG
HCEEFCVYKGSLSSYGAVLPPGFRPHFEVGLAVVVQDQLGAAVVALNRSLAITLPEPNGS
ATGLTVWLHGLTASVLPGLLRQADPQHVIEYSLALVTVLNEYERALDVAAEPKHERQHRA
QIRKNITETLVSLRVHTVDDIQQIAAALAQCMGPSRELVCRSCLKQTLHKLEAMMLILQA
ETTAGTVTPTAIGDSILNITGDLIHLASSDVRAPQPSELGAESPSRMVASQAYNLTSALM
RILMRSRVLNEEPLTLAGEEIVAQGKRSDPRSLLCYGGAPGPGCHFSIPEAFSGALANLS
DVVQLIFLVDSNPFPFGYISNYTVSTKVASMAFQTQAGAQIPIERLASERAITVKVPNNS
DWAARGHRSSANSANSVVVQPQASVGAVVTLDSSNPAAGLHLQLNYTLLDGHYLSEEPEP
YLAVYLHSEPRPNEHNCSASRRIRPESLQGADHRPYTFFISPGSRDPAGSYHLNLSSHFR
WSALQVSVGLYTSLCQYFSEEDMVWRTEGLLPLEETSPRQAVCLTRHLTAFGASLFVPPS
HVRFVFPEPTADVNYIVMLTCAVCLVTYMVMAAILHKLDQLDASRGRAIPFCGQRGRFKY
EILVKTGWGRGSGTTAHVGIMLYGVDSRSGHRHLDGDRAFHRNSLDIFRIATPHSLGSVW
KIRVWHDNKGLSPAWFLQHVIVRDLQTARSAFFLVNDWLSVETEANGGLVEKEVLAASDA
ALLRFRRLLVAELQRGFFDKHIWLSIWDRPPRSRFTRIQRATCCVLLICLFLGANAVWYG
AVGDSAYSTGHVSRLSPLSVDTVAVGLVSSVVVYPVYLAILFLFRMSRSKVAGSPSPTPA
GQQVLDIDSCLDSSVLDSSFLTFSGLHAEQAFVGQMKSDLFLDDSKSLVCWPSGEGTLSW
PDLLSDPSIVGSNLRQLARGQAGHGLGPEEDGFSLASPYSPAKSFSASDEDLIQQVLAEG
VSSPAPTQDTHMETDLLSSLSSTPGEKTETLALQRLGELGPPSPGLNWEQPQAARLSRTG
LVEGLRKRLLPAWCASLAHGLSLLLVAVAVAVSGWVGASFPPGVSVAWLLSSSASFLASF
LGWEPLKVLLEALYFSLVAKRLHPDEDDTLVESPAVTPVSARVPRVRPPHGFALFLAKEE
ARKVKRLHGMLRSLLVYMLFLLVTLLASYGDASCHGHAYRLQSAIKQELHSRAFLAITRS
EELWPWMAHVLLPYVHGNQSSPELGPPRLRQVRLQEALYPDPPGPRVHTCSAAGGFSTSD
YDVGWESPHNGSGTWAYSAPDLLGAWSWGSCAVYDSGGYVQELGLSLEESRDRLRFLQLH
NWLDNRSRAVFLELTRYSPAVGLHAAVTLRLEFPAAGRALAALSVRPFALRRLSAGLSLP
LLTSVCLLLFAVHFAVAEARTWHREGRWRVLRLGAWARWLLVALTAATALVRLAQLGAAD
RQWTRFVRGRPRRFTSFDQVAQLSSAARGLAASLLFLLLVKAAQQLRFVRQWSVFGKTLC
RALPELLGVTLGLVVLGVAYAQLAILLVSSCVDSLWSVAQALLVLCPGTGLSTLCPAESW
HLSPLLCVGLWALRLWGALRLGAVILRWRYHALRGELYRPAWEPQDYEMVELFLRRLRLW
MGLSKVKEFRHKVRFEGMEPLPSRSSRGSKVSPDVPPPSAGSDASHPSTSSSQLDGLSVS
LGRLGTRCEPEPSRLQAVFEALLTQFDRLNQATEDVYQLEQQLHSLQGRRSSRAPAGSSR
GPSPGLRPALPSRLARASRGVDLATGPSRTPLRAKNKVHPSST

Sequence length

4303

Interactions

View interactions

	Reactome
			VxPx cargo-targeting to cilium

4242

Show/Hide Causal Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-4 toe syndactyly	Likely pathogenic; Pathogenic	rs566014072	RCV000415375
Anhydramnios	Likely pathogenic	rs2151704173	RCV001807676
Autosomal dominant polycystic kidney disease	Pathogenic; Likely pathogenic	rs2151799399, rs2151772170, rs755972713, rs763199691, rs2151822325, rs541552030, rs2151792059, rs2151788244, rs2151806438, rs2151707040, rs2151813077, rs2092047055, rs2151826530, rs2151675632, rs534630703 View all (74 more)	RCV005361556 RCV001844968 RCV001844969 RCV001844970 RCV001844972 RCV001844973 RCV001844975 RCV001844978 RCV001844979 RCV001844980 RCV001844982 RCV001844983 RCV001844984 RCV001844985 RCV001844989 RCV001844990 RCV001844991 RCV001844992 RCV001844994 RCV001844995 RCV001844997 RCV001844998 RCV001845000 RCV001845001 RCV001845002 RCV001845003 RCV001845004 RCV001845005 RCV001845006 RCV001845008 RCV001845009 RCV001845010 RCV001845012 RCV005361702 RCV003229570 RCV005250240 RCV005356084 RCV003229571 RCV003229574 RCV002463866 RCV002463868 RCV005356140 RCV005250252 RCV001254214 RCV001254254 RCV003993740 RCV003140258 RCV005356399 RCV005356423 RCV005250310 RCV003994680 RCV003994776 RCV005250341 RCV001254205 RCV005250060 RCV004760536 RCV000499512 RCV000500237 RCV000504528 RCV001254257 RCV005250068 RCV001254255 RCV000677622 RCV001254314 RCV005357906 RCV001254281 RCV003229563 RCV005250103 RCV001844846 RCV003229566 RCV005359726 RCV005358158 RCV001254251 RCV005250137 RCV005359893 RCV005250164 RCV003994244 RCV001844854 RCV003229568 RCV005250166 RCV001254317 RCV001254211 RCV001254253 RCV001254236 RCV001254218 RCV001254224 RCV001254302 RCV001254276 RCV005232244 RCV003994255
Autosomal recessive polycystic kidney disease	Pathogenic	rs1555453872	RCV000501173
Cystic renal disease	Likely pathogenic; Pathogenic	rs2151794620, rs199476094, rs2091390332, rs147391291, rs1567153758, rs1567180636, rs2092423837	RCV006270243 RCV006263623 RCV006255227 RCV006254404 RCV006261749 RCV006272145 RCV005647384
Dilatation of the cerebral artery	Pathogenic	rs1057518923	RCV000415421
Enlarged kidney	Likely pathogenic	rs2151704173	RCV001807676
Gastric cancer	Pathogenic	rs2544652543	RCV005932775
Hepatic cysts	Likely pathogenic; Pathogenic	rs1057518856, rs1057518923, rs1383657728	RCV000415243 RCV000415421 RCV000626724
Hyperechogenic kidneys	Likely pathogenic	rs2151704173	RCV001807676
Hypertensive disorder	Likely pathogenic; Pathogenic	rs1057518959, rs1057518856, rs1057518897, rs1057518899	RCV000415211 RCV000415243 RCV000415041 RCV000415042
Moderate sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs566014072	RCV000415375
Multiple renal cysts	Likely pathogenic; Pathogenic	rs2151704173, rs1057518897, rs1383657728	RCV001807676 RCV000415041 RCV000626724
Pancreatic cysts	Likely pathogenic	rs1057518856, rs1383657728	RCV000415243 RCV000626724
PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease	Pathogenic; Likely pathogenic	rs2151824295, rs2544742591, rs148812376, rs2544745346, rs750798165, rs1555459084, rs1167476946, rs555703777, rs2092343570	RCV005408944 RCV005406474 RCV005431518 RCV005406662 RCV005407657 RCV005418255 RCV005407879 RCV005418948 RCV005408693
PKD1-related disorder	Pathogenic; Likely pathogenic	rs2151788037, rs2151790499, rs1448641464, rs2151790199, rs2151695909, rs750843149, rs2092046394, rs1458516705, rs1238351274, rs2544578227, rs2544800298, rs2544757259, rs1567195285, rs1167476946, rs148812376 View all (105 more)	RCV004741030 RCV003405703 RCV003900787 RCV003405741 RCV003405744 RCV003401567 RCV003900840 RCV003426189 RCV003403758 RCV003418437 RCV004741279 RCV003403777 RCV003403779 RCV003984264 RCV005867993 RCV004739297 RCV003900958 RCV003928958 RCV003946467 RCV004741484 RCV004741487 RCV003399804 RCV003416872 RCV003392738 RCV003408707 RCV003417145 RCV003402860 RCV003402185 RCV003416660 RCV003416665 RCV003416670 RCV003416676 RCV003406072 RCV003400333 RCV003412345 RCV003404638 RCV003397380 RCV003397396 RCV003397410 RCV003397484 RCV003397551 RCV003400116 RCV003402747 RCV003393028 RCV003418938 RCV003404392 RCV003404512 RCV003405883 RCV003414456 RCV003408414 RCV003408415 RCV003402678 RCV004741507 RCV003896561 RCV003894768 RCV003909329 RCV003982585 RCV003982750 RCV003982765 RCV003902318 RCV003902323 RCV003901486 RCV003911838 RCV003914259 RCV003897180 RCV003899618 RCV003909873 RCV003951792 RCV003392231 RCV003409581 RCV003902754 RCV004740271 RCV003403159 RCV004740292 RCV003409737 RCV004740299 RCV003935369 RCV003409741 RCV004722947 RCV003892403 RCV004740374 RCV003392462 RCV003918123 RCV004740404 RCV004740405 RCV003420204 RCV003424276 RCV004740406 RCV003965434 RCV003392519 RCV003403577 RCV004723129 RCV004740421 RCV003918150 RCV004740423 RCV004723130 RCV003411652 RCV003396317 RCV004723153 RCV004740442 RCV003413545 RCV003938142 RCV003392579 RCV003413580 RCV004740451 RCV003892704 RCV003392594 RCV003411734 RCV004740531 RCV003983818 RCV003983837 RCV003413908 RCV003396789 RCV004740614 RCV004740633 RCV003963153 RCV004740635 RCV004740637 RCV004727073 RCV003898269 RCV004740657
Polycystic kidney disease	Likely pathogenic; Pathogenic	rs199476100, rs2092486975, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1555452653, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs1555450424, rs1555451093 View all (121 more)	RCV001292482 RCV004018173 RCV000415211 RCV001292353 RCV000414840 RCV000415375 RCV000415042 RCV000490750 RCV000499954 RCV000499768 RCV000504063 RCV000503952 RCV000501425 RCV000503393 RCV000499594 RCV000501091 RCV000502459 RCV000501268 RCV000502302 RCV000502124 RCV000503673 RCV000501909 RCV000500601 RCV000626720 RCV001292407 RCV001292273 RCV001292449 RCV001292374 RCV001292028 RCV001292504 RCV000626719 RCV001292445 RCV001292371 RCV001292451 RCV001292446 RCV001292243 RCV001292529 RCV001291995 RCV001292124 RCV001292373 RCV001292115 RCV001292332 RCV001292279 RCV001292207 RCV001292354 RCV001292276 RCV001292447 RCV001292441 RCV001292059 RCV001292278 RCV001292358 RCV001292112 RCV001292442 RCV001292119 RCV001254903 RCV001254905 RCV001292361 RCV001292131 RCV001292117 RCV001292202 RCV001292114 RCV001292444 RCV001292489 RCV001292153 RCV001254904 RCV001254907 RCV001254906 RCV001292198 RCV001292539 RCV001292110 RCV001292470 RCV001292293 RCV001292357 RCV001292123 RCV001292450 RCV001292528 RCV001292156 RCV001292241 RCV001292290 RCV001292130 RCV001292533 RCV001292532 RCV001292150 RCV001292378 RCV001292359 RCV001292289 RCV001292473 RCV001292129 RCV001292295 RCV001292120 RCV001292240 RCV001292408 RCV001292475 RCV001292505 RCV001292372 RCV001292051 RCV001292126 RCV001292275 RCV001292468 RCV001292294 RCV001292077 RCV001292530 RCV001292274 RCV001292122 RCV001292474 RCV001292003 RCV001292031 RCV001292199 RCV001292111 RCV001292331 RCV001292404 RCV001292469 RCV001292535 RCV001292507 RCV001292531 RCV001292405 RCV001292472 RCV001292052 RCV001292209 RCV001292032 RCV001292541 RCV001292471 RCV001292053 RCV001292244 RCV001292491 RCV001292411 RCV001292062 RCV001292377 RCV001292204 RCV001292540 RCV001292057 RCV001292502 RCV001292484 RCV001292014 RCV001292330 RCV001292448
Polycystic kidney disease 3 with or without polycystic liver disease	Likely pathogenic; Pathogenic	rs199476100, rs1616940, rs1567187420, rs1567195868, rs1567190244	RCV000761309 RCV000761328 RCV000760971 RCV000761329 RCV000761330
Polycystic kidney disease, adult (ADPKD)	Likely pathogenic	rs2544805508, rs2544712917	RCV003493287 RCV003493288
Polycystic kidney disease, adult type	Pathogenic; Likely pathogenic	rs2091642103, rs2151799171, rs2092447380, rs2091579496, rs2092262890, rs1567178000, rs2151791178, rs753749502, rs2151799399, rs2151825150, rs2151688569, rs1378307448, rs2151699891, rs2151820539, rs2151726623 View all (789 more)	RCV005394929 RCV001644995 RCV001332654 RCV001335528 RCV001337063 RCV001353230 RCV001353235 RCV001353231 RCV001353232 RCV001353347 RCV001374662 RCV001391301 RCV001506979 RCV001526986 RCV001533195 RCV001533183 RCV001533184 RCV001536037 RCV001536117 RCV001536122 RCV001536123 RCV001536126 RCV001535893 RCV001535963 RCV001535894 RCV001535899 RCV001535901 RCV001536061 RCV001536067 RCV001535908 RCV001535986 RCV001535843 RCV001535932 RCV001535875 RCV001535938 RCV001535883 RCV001535949 RCV001535960 RCV001536115 RCV001535906 RCV001535909 RCV001535985 RCV001535930 RCV001535878 RCV004796639 RCV001542791 RCV001542809 RCV002495935 RCV002477870 RCV002477876 RCV005361691 RCV003333768 RCV002488455 RCV005005988 RCV002506716 RCV003446858 RCV004783978 RCV005361692 RCV002477881 RCV004796648 RCV005005989 RCV004587193 RCV002502006 RCV005005992 RCV005369929 RCV005014611 RCV001726706 RCV002477903 RCV001730001 RCV001730083 RCV001731130 RCV002477920 RCV004762175 RCV001754562 RCV001782635 RCV005014662 RCV002489837 RCV001795810 RCV001799548 RCV001801284 RCV001801289 RCV001801292 RCV001801293 RCV001808221 RCV001808964 RCV001814682 RCV001814717 RCV001814722 RCV002478047 RCV002482347 RCV004785331 RCV002503339 RCV002034886 RCV002052132 RCV002052238 RCV002052421 RCV002086734 RCV002086737 RCV002225209 RCV006257353 RCV002249132 RCV002250238 RCV002250239 RCV002250240 RCV002250241 RCV002251037 RCV002251092 RCV002251125 RCV002251269 RCV002505901 RCV006257355 RCV002272796 RCV002273027 RCV002273045 RCV002273050 RCV002273056 RCV002273172 RCV002273189 RCV002273206 RCV002273356 RCV002273850 RCV002273901 RCV002273851 RCV002273852 RCV002273854 RCV002273855 RCV002273903 RCV002273905 RCV002283651 RCV002283786 RCV002283944 RCV003147753 RCV004720359 RCV002286450 RCV005008521 RCV002287309 RCV002289046 RCV002289185 RCV002293269 RCV002293270 RCV002293272 RCV002293274 RCV006249818 RCV000149768 RCV005008528 RCV002306251 RCV002471290 RCV002471292 RCV005419461 RCV005419462 RCV002465015 RCV002466940 RCV002471481 RCV002471569 RCV002471584 RCV002471599 RCV002471657 RCV002471779 RCV002471787 RCV002471830 RCV002471858 RCV002471867 RCV002471880 RCV002471884 RCV002470174 RCV002470175 RCV002470198 RCV002470319 RCV002470354 RCV002470402 RCV002470438 RCV002470474 RCV002470476 RCV002470571 RCV002470581 RCV002470582 RCV002470587 RCV002470590 RCV002470635 RCV002470645 RCV002470651 RCV005008600 RCV005019222 RCV000192215 RCV000190326 RCV002795920 RCV002795921 RCV002795923 RCV002470807 RCV002503829 RCV000008678 RCV000008679 RCV000008680 RCV000008681 RCV000008682 RCV004686766 RCV000008683 RCV000008684 RCV000008685 RCV000008686 RCV000008687 RCV000008689 RCV000008690 RCV000008692 RCV003110172 RCV003111522 RCV003120360 RCV005011228 RCV003126287 RCV003126314 RCV005011231 RCV003140258 RCV003142374 RCV003137004 RCV003148216 RCV003150899 RCV003152825 RCV003152973 RCV003153133 RCV005433362 RCV005021831 RCV003159085 RCV005012810 RCV004686769 RCV005012814 RCV003224918 RCV003224920 RCV004796787 RCV003227562 RCV000258012 RCV002500972 RCV005012819 RCV005021871 RCV003234836 RCV003236459 RCV003236466 RCV003236467 RCV003236468 RCV003236628 RCV005012826 RCV003237324 RCV003237325 RCV003314369 RCV003314525 RCV003314530 RCV003317786 RCV003317787 RCV003324099 RCV003324603 RCV003324605 RCV003324606 RCV003324610 RCV003324617 RCV003324618 RCV003324619 RCV003324624 RCV003324625 RCV003324627 RCV003324628 RCV003324635 RCV003324637 RCV003324638 RCV003324641 RCV003324647 RCV003324648 RCV003324649 RCV003324650 RCV005012876 RCV005012879 RCV003332922 RCV005406671 RCV004686774 RCV003389367 RCV004686775 RCV004594695 RCV005012935 RCV005021945 RCV005012920 RCV005021951 RCV004594696 RCV005012990 RCV003484535 RCV003484539 RCV003484540 RCV003484543 RCV003484545 RCV003484547 RCV003484551 RCV005022000 RCV005412556 RCV003486476 RCV003486477 RCV003486480 RCV003486481 RCV003486483 RCV003486484 RCV003486485 RCV003486486 RCV003486500 RCV003494503 RCV003494506 RCV003494528 RCV003634410 RCV003881664 RCV005015096 RCV005015107 RCV005015093 RCV005015097 RCV004686803 RCV005006337 RCV005002028 RCV003984938 RCV003984965 RCV003985125 RCV003988181 RCV003988699 RCV003990159 RCV003990448 RCV003990507 RCV003990881 RCV003990933 RCV003991118 RCV003991148 RCV003991163 RCV003991199 RCV003991202 RCV003991206 RCV003991209 RCV003991211 RCV003991239 RCV003991268 RCV003991274 RCV003991296 RCV003991305 RCV003991311 RCV003991325 RCV003991341 RCV003991348 RCV003993585 RCV003991974 RCV003991998 RCV003992003 RCV003992017 RCV003992026 RCV003992036 RCV003992044 RCV003992052 RCV003992056 RCV003992066 RCV003992093 RCV004442853 RCV004796866 RCV004526579 RCV004546860 RCV004546883 RCV004545924 RCV004545940 RCV004545961 RCV004566387 RCV004566394 RCV004566412 RCV004566415 RCV004566424 RCV004566435 RCV004566445 RCV004566455 RCV004566471 RCV004555223 RCV004555225 RCV004555260 RCV004555274 RCV004555281 RCV004555309 RCV004555315 RCV004555319 RCV004555346 RCV004555350 RCV004555370 RCV004555373 RCV004555382 RCV004555393 RCV004555399 RCV004555402 RCV004555428 RCV004555432 RCV004555726 RCV004555741 RCV004555747 RCV004555749 RCV004555751 RCV004555759 RCV004556897 RCV004556910 RCV004556915 RCV004556917 RCV004556938 RCV004556961 RCV004560343 RCV004584157 RCV004584160 RCV004586477 RCV004594780 RCV004594784 RCV004594785 RCV004594791 RCV004594792 RCV004594947 RCV004595024 RCV004595025 RCV004595026 RCV004595027 RCV004595028 RCV004595029 RCV004595030 RCV004595031 RCV004595032 RCV004595033 RCV004595034 RCV004595035 RCV004595037 RCV004595039 RCV004595040 RCV004595043 RCV004595051 RCV004595097 RCV004595213 RCV004595214 RCV004595215 RCV004595219 RCV000408619 RCV000408785 RCV000408798 RCV005018712 RCV001195959 RCV000763371 RCV001536076 RCV005018714 RCV004686583 RCV002481287 RCV000449570 RCV000449600 RCV000449602 RCV000449609 RCV000449590 RCV000449488 RCV002489152 RCV005010402 RCV000490640 RCV000490641 RCV000502419 RCV000500886 RCV002272265 RCV001536116 RCV002248738 RCV001002255 RCV005010426 RCV002506217 RCV002490824 RCV001095637 RCV002289687 RCV006249511 RCV001095562 RCV000505620 RCV000505553 RCV000505550 RCV000505680 RCV000505585 RCV000505634 RCV000505588 RCV006249644 RCV000506356 RCV002476018 RCV004594069 RCV001281200 RCV001535870 RCV000509154 RCV000509588 RCV004796216 RCV000763369 RCV002476044 RCV005356049 RCV003319363 RCV002490886 RCV005018882 RCV002481681 RCV004686590 RCV000989457 RCV001027655 RCV001198256 RCV001536114 RCV000519491 RCV000520500 RCV002490918 RCV000577981 RCV000578037 RCV000578128 RCV000578150 RCV000578174 RCV000578188 RCV000578152 RCV000590884 RCV002470926 RCV001281304 RCV006257308 RCV000625533 RCV000625661 RCV000625532 RCV000625558 RCV000625546 RCV000625657 RCV000625579 RCV000625539 RCV000625543 RCV000625632 RCV000625616 RCV000625663 RCV000625662 RCV000625531 RCV000625614 RCV002470937 RCV000763374 RCV000664259 RCV005019171 RCV001281206 RCV002499200 RCV003236587 RCV002499201 RCV000763373 RCV006273983 RCV002499202 RCV006265201 RCV002289955 RCV001253669 RCV001001312 RCV001281197 RCV002485575 RCV001535990 RCV001095631 RCV002470949 RCV000763372 RCV001283789 RCV004686601 RCV001281154 RCV004788109 RCV003319399 RCV002499204 RCV005010721 RCV002272336 RCV004796292 RCV002477649 RCV001536063 RCV001281267 RCV006268970 RCV001095606 RCV005021113 RCV005010723 RCV001535847 RCV001095587 RCV005021112 RCV001001335 RCV004760752 RCV002499332 RCV005010733 RCV000735658 RCV000735665 RCV000735685 RCV000735689 RCV000735659 RCV000735755 RCV000735699 RCV000754710 RCV002507324 RCV002477742 RCV002272343 RCV002485956 RCV000756534 RCV005010754 RCV002470970 RCV001029873 RCV002477744 RCV002477741 RCV002293247 RCV002500982 RCV005418334 RCV004594115 RCV000761501 RCV000767864 RCV000786960 RCV000786948 RCV000786889 RCV000786989 RCV000786991 RCV000786888 RCV001251463 RCV005012315 RCV001095551 RCV002501032 RCV005021183 RCV001281273 RCV001255202 RCV002501029 RCV005021186 RCV005021189 RCV001535846 RCV002470978 RCV004686612 RCV002501033 RCV001536064 RCV000790473 RCV000790462 RCV000984477 RCV000989446 RCV000989449 RCV000989458 RCV000989460 RCV000989461 RCV000989463 RCV000989465 RCV000989466 RCV001095552 RCV005012420 RCV003388841 RCV001095581 RCV002489476 RCV005012422 RCV001000938 RCV002497287 RCV001002438 RCV000995839 RCV001002025 RCV001002146 RCV001002288 RCV001002258 RCV001001035 RCV001002187 RCV001000964 RCV001000928 RCV001001133 RCV005002041 RCV001002321 RCV001002003 RCV001002156 RCV001000874 RCV005021317 RCV001027971 RCV001029923 RCV001029910 RCV001029931 RCV001029932 RCV001029912 RCV001095580 RCV001252966 RCV006250123 RCV002489736 RCV001535871 RCV001095559 RCV001095574 RCV001095590 RCV001095604 RCV001095558 RCV001095634 RCV001095571 RCV001095607 RCV001095579 RCV001095623 RCV001095557 RCV001095578 RCV001095546 RCV001095639 RCV001095585 RCV001095592 RCV001095595 RCV001095591 RCV001095560 RCV001095608 RCV001095584 RCV001095611 RCV001095549 RCV001095548 RCV001095588 RCV001095594 RCV001095586 RCV001095626 RCV001095555 RCV001095568 RCV001095633 RCV001095553 RCV001095614 RCV001095621 RCV001095577 RCV001095582 RCV001095572 RCV001095554 RCV001095598 RCV001095570 RCV001095627 RCV001095583 RCV001095600 RCV001095573 RCV001095547 RCV001095596 RCV001095625 RCV001095565 RCV001095563 RCV001095589 RCV001174550 RCV001174548 RCV001174549 RCV001174547 RCV001198903 RCV001198647 RCV001199038 RCV001197203 RCV001248803 RCV001248761 RCV001248765 RCV001248802 RCV001248768 RCV001248767 RCV001248774 RCV002225130 RCV002499438 RCV006249726 RCV002504370 RCV002471057 RCV002471056 RCV001535837 RCV002471058 RCV002273845 RCV004789494 RCV005408782 RCV002504371 RCV004594256 RCV001281152 RCV001281151 RCV001281149 RCV001281148 RCV001281147 RCV001281312 RCV001281311 RCV001281310 RCV001281308 RCV001281306 RCV001281303 RCV001281321 RCV001281319 RCV001281318 RCV001281317 RCV001281314 RCV001281313 RCV001281272 RCV001281271 RCV001281269 RCV001281268 RCV001281266 RCV001281262 RCV001281260 RCV001281207 RCV001281204 RCV001281202 RCV001281199 RCV001281198 RCV001281196 RCV001281195 RCV001281158 RCV001281157 RCV001281156 RCV001281155 RCV001281153 RCV001281309 RCV001281264 RCV001281205 RCV001281307 RCV001281305 RCV001281320 RCV001281203 RCV001281150 RCV001251488 RCV001251489 RCV001251499 RCV001251472 RCV001251474 RCV001253185 RCV001255204 RCV001261003 RCV001265655 RCV001267671 RCV001280883 RCV001280900 RCV001280827 RCV001280879 RCV001280828 RCV001280910 RCV001280894 RCV001283799 RCV001286232 RCV001285654 RCV001284829 RCV001287384 RCV001284956 RCV001286054 RCV005394902 RCV002493516 RCV002480938 RCV002504420 RCV002504419 RCV002273844 RCV005360016 RCV002504424 RCV002499526 RCV005012726 RCV002486097 RCV005419074 RCV004796414 RCV004686651 RCV005014343 RCV002504423 RCV001535989 RCV004796415 RCV002272441 RCV002486103 RCV005012728 RCV005012723 RCV002499521 RCV006249742 RCV006249741 RCV002493528 RCV002499535 RCV006249740 RCV006261758 RCV001292762 RCV001293852
Polycystic liver disease 1	Pathogenic	rs747483368, rs1555455457, rs2092423837	RCV000626720 RCV001813786 RCV001849502
Renal cyst	Pathogenic; Likely pathogenic	rs2544646762, rs2092481936, rs1057518856, rs1555454411, rs1555446576, rs1555444985, rs1555455457, rs1567200450	RCV005626873 RCV005626896 RCV000415243 RCV001526541 RCV005625652 RCV005625659 RCV005625660 RCV005626187
Renal insufficiency	Likely pathogenic	rs1596536873	RCV000850290
Renovascular hypertension	Likely pathogenic	rs1057518856	RCV000415243
See cases	Likely pathogenic	rs2151790460	RCV001420334
Stage 5 chronic kidney disease	Pathogenic	rs1057518923	RCV000415421

Show/Hide Unknown Diseases (38)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs2151742354, rs2151742388, rs2151766716	-
46,XY disorder of sex development	Uncertain significance	rs2092594485	RCV003126305
Abnormality of the kidney	Uncertain significance	rs1057518976	RCV000415037
Achilles tendon contracture	Conflicting classifications of pathogenicity	rs1555452876	RCV000626725
Acute myeloid leukemia	Benign; Likely benign	rs77566834	RCV005891364
Adrenocortical carcinoma, hereditary	Benign	rs189277711	RCV005891371
Bile duct cancer	Likely benign; Benign; Conflicting classifications of pathogenicity; Uncertain significance	rs773053314, rs145850037, rs552292318, rs749291211	RCV001354337 RCV001354014 RCV001355071 RCV001357006
Biliary tract abnormality	Conflicting classifications of pathogenicity	rs1232180956, rs200360336	RCV005626213 RCV005626294
Bladder exstrophy-epispadias-cloacal extrophy complex	Conflicting classifications of pathogenicity	rs979342927	RCV003389412
Breast-ovarian cancer, familial, susceptibility to, 5	Conflicting classifications of pathogenicity	rs137905643	RCV005863146
Cervical cancer	Uncertain significance; Benign; Likely benign	rs562768017, rs189277711, rs1222076544	RCV005931973 RCV005891372 RCV005932805
Cholangiocarcinoma	Benign; Likely benign	rs149151043	RCV005891376
Chronic kidney disease	Conflicting classifications of pathogenicity	rs777024498, rs115538130	RCV001171361 RCV001171322
Clubfoot	Conflicting classifications of pathogenicity; Uncertain significance	rs376283361, rs760873748	RCV000626652 RCV000626651
Colon adenocarcinoma	Benign; Likely benign	rs189277711, rs111688332	RCV005891369 RCV005901805
Congenital aneurysm of ascending aorta	Uncertain significance	rs768275494	RCV004555527
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	rs147992238, rs751031560	RCV005625642 RCV005626196
Connective tissue disorder	Uncertain significance	rs765180455	RCV006250193
Cystic renal dysplasia	Conflicting classifications of pathogenicity	rs1555454847	RCV000626723
Elevated circulating creatine kinase concentration	Conflicting classifications of pathogenicity	rs1555452876	RCV000626725
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	rs189277711, rs144593342	RCV005891368 RCV005898035
Hemangioma	Conflicting classifications of pathogenicity	rs1555459345	RCV000626722
Hereditary ataxia	Conflicting classifications of pathogenicity	rs201991587	RCV005626414
Kidney failure	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1257476353, rs534696523, rs972113626	RCV005626460 RCV005625485 RCV005625641
Lower limb amyotrophy	Conflicting classifications of pathogenicity	rs1555452876	RCV000626725
Lower limb muscle weakness	Conflicting classifications of pathogenicity	rs1555452876	RCV000626725
Lung cancer	Benign; Likely benign	rs77566834, rs149151043	RCV005891367 RCV005891377
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	rs189277711, rs79000340, rs4018172	RCV005891370 RCV005897304 RCV005910931
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs375378535	RCV005912353
Multicystic kidney dysplasia	Uncertain significance; Conflicting classifications of pathogenicity	rs1057518976, rs1555454847	RCV000415037 RCV000626723
Narrow chest	Conflicting classifications of pathogenicity; Uncertain significance	rs376283361, rs760873748	RCV000626652 RCV000626651
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs77566834, rs149151043, rs189277711, rs62621452	RCV005891365 RCV005891375 RCV005891374 RCV005912193
Polycystic kidney disease 2	Uncertain significance	rs538031465	RCV004571072
Proteinuria	Uncertain significance	rs376176735	RCV000414820
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Uncertain significance	rs775980046	RCV005863824
Sarcoma	Benign; Likely benign	rs189277711, rs200573404	RCV005891373 RCV005933271
Uterine carcinosarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs77566834, rs201409107	RCV005891366 RCV005900966
Uterine corpus endometrial carcinoma	Likely benign	rs559071281, rs9924796	RCV005929396 RCV005910929

Show/Hide Text Mining Associations (116)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Renal Tubular	Associate	10207066
Acromegaly	Associate	21744088
Alzheimer Disease	Associate	34290017
Ameloblastoma	Stimulate	36857877
Anemia Sickle Cell	Associate	36646975
Aneurysm	Associate	10577909
Anti N Methyl D Aspartate Receptor Encephalitis	Associate	33881537
Aortic Aneurysm Thoracic	Associate	38002926
Aortic Diseases	Associate	38002926
Aortic Dissection	Inhibit	28076932
Aortic Dissection	Associate	28076932
Arachnoid Cysts	Associate	34175641
Astrocytoma	Associate	25227171
Atherosclerosis	Stimulate	26286632
Atrial Fibrillation	Associate	28839241
Birt Hogg Dube Syndrome	Associate	32398770
Blood Coagulation Disorders	Associate	23001835
Breast Neoplasms	Associate	17928923
Breast Neoplasms	Inhibit	19243594
Carcinogenesis	Associate	28054945
Carcinoma Renal Cell	Associate	19165178
Cardiomyopathy Dilated	Associate	32879264
Caroli Disease	Associate	9211343
Carotid Artery Internal Dissection	Associate	31703639
Carotid Stenosis	Associate	26286632
Cerebral Infarction	Associate	40650005
Chromosome Aberrations	Associate	37231942, 9005987
Chromosome Deletion	Associate	18818683, 22169896, 33485185, 34860161, 38411894, 40170159
Chromosome Disorders	Associate	18818683, 23738537, 26077033, 27595512, 31176519, 31870441
Chronic Kidney Disease Mineral and Bone Disorder	Associate	30042192, 31085678
Cluster Headache	Associate	40114078
Colorectal Neoplasms	Associate	25193853, 31251475
Congenital disorder of glycosylation type 1A	Associate	34586427
Coronary Artery Dissection Spontaneous	Associate	33125268
Craniosynostoses	Associate	33656806, 35285136
Cystic Disease Of Lung	Associate	19165178, 20642692, 26139440, 9382094
Cysts	Associate	10373576, 10504485, 1583643, 17090781, 17396115, 19165178, 20837139, 2215575, 23760289, 24575920, 27552964, 30042192, 31088850, 31186083, 31455242 View all (10 more)
Death	Inhibit	26453610
Death	Associate	29973168
Dentigerous Cyst	Associate	25728110
Diabetes Complications	Associate	33200202
Diabetes Mellitus	Stimulate	26286632
Disease	Associate	11156533, 35177841
Dyslipidemias	Stimulate	26286632
Encephalitis Tick Borne	Associate	31122248
Endometrial Neoplasms	Associate	35816294
Failed Back Surgery Syndrome	Associate	20443916
Familial paroxysmal dystonia	Associate	10364515, 11012875, 18060739, 20558538, 23496908, 24009235, 24374109, 24694054, 25180832, 26139440, 28522688, 30333007, 32505451, 33305291, 36029107, 36773205, 37962562, 38418364, 9291178 View all (4 more)
Gastroschisis	Associate	32163230
Genee Wiedemann syndrome	Associate	22169896
Genetic Diseases Inborn	Associate	23475492
Glioblastoma	Associate	31251475, 35106909
Glomerulosclerosis Focal Segmental	Associate	31455242
Glycosuria Renal	Associate	14718571, 32747355, 9497315
Growth Hormone Secreting Pituitary Adenoma	Associate	21744088
Heart Diseases	Associate	30464138
Hemolytic Uremic Syndrome	Associate	24358217
Hepatic Fibrosis Congenital	Associate	31096464
Hereditary Breast and Ovarian Cancer Syndrome	Associate	31251475
Hernia	Associate	10411677
Hypertension	Associate	10411677, 2215575
Hypertension	Stimulate	26286632
Hypoglossal Nerve Diseases	Associate	31703639
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	20558538
Hypoxia	Inhibit	22974282
Idiopathic Pulmonary Fibrosis	Associate	25000413
Infertility	Associate	30333007, 37540677
Insulin Resistance	Associate	11283790, 7673181
Intellectual Disability	Associate	40225164
Intracranial Aneurysm	Associate	10577909, 34175641, 35108395
Kidney Diseases	Associate	11156533, 2215575, 26453610, 26823553, 29034881, 30042192, 31088850, 31488014, 33095447, 33602752, 34175641, 34632641, 36581342, 37248651, 37509056, 40770708 View all (1 more)
Kidney Diseases Cystic	Associate	18422703, 23001567, 25646624, 34385667, 36573973, 9382094
Kidney Failure Chronic	Associate	12707387, 18215695, 19165178, 19443633, 19686598, 20169078, 20616171, 2215575, 23431072, 26632257, 31556469, 36422197, 37272738, 9291178
Kidney Failure Chronic	Inhibit	26453610
Kidney Neoplasms	Associate	36581342
Leukodystrophy Metachromatic	Associate	38203665
Liver Failure	Associate	26823553
Lung Diseases	Associate	31251475
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	37540677
Melanoma	Associate	14726694
Metabolic Syndrome	Associate	35177841
Myocardial Infarction	Associate	29121521
Myopathies Structural Congenital	Associate	36580209
Neointima	Associate	16778383, 26493500, 30042192, 31186083, 32163234, 35803227
Neoplasm Metastasis	Associate	36497140
Neoplasms	Inhibit	20169078
Neoplasms	Associate	21744088, 24847910, 26388441, 30042192, 31251475, 34064452, 36497140
Neoplasms Cystic Mucinous and Serous	Associate	25728110
Nephrotic Syndrome	Associate	31455242
Neuroectodermal Tumors Primitive	Associate	36497140
Neuroendocrine Tumors	Associate	36497140
Nevus	Associate	14726694
Niemann Pick Disease Type C	Associate	30895336
Pancreatic Neoplasms	Associate	24336522, 24847910
Phenylketonurias	Associate	38203665
Polycystic Kidney Autosomal Dominant	Associate	10097141, 10200984, 10207066, 10339594, 10373576, 10411677, 10562308, 11012875, 11113628, 11115377, 11406351, 11786542, 11967008, 12482949, 12734101 View all (194 more)
Polycystic Kidney Autosomal Recessive	Associate	34290017, 39457385
Polycystic Kidney Diseases	Associate	1404294, 14718571, 15998466, 16778383, 17574468, 19165178, 1971930, 1971935, 1975629, 19759016, 1978860, 1978861, 21694639, 22169896, 22863349 View all (48 more)
Polycystic kidneys severe infantile with tuberous sclerosis	Associate	40170159
Polycystic liver disease	Associate	24706814, 26932689, 37750370
Prostatic Neoplasms	Associate	28077787
Prostatitis	Associate	31251475
Pyuria	Associate	35582184
Renal hypouricemia	Associate	29590654
Renal Insufficiency	Associate	20837139, 25491204, 26311459, 29121521, 32505451
Renal Insufficiency Chronic	Associate	23738537, 24358217, 35325889, 36422197
Solitary Kidney	Associate	35726512
Stroke	Associate	36580209
Sudden Unexpected Death in Epilepsy	Associate	32879264
Testicular Germ Cell Tumor	Associate	27577987
Thrombosis	Associate	23001835
Tourette Syndrome	Associate	28978585
Tuberous Sclerosis	Associate	18060739, 26077033, 31870441, 33485185, 9382094
Tuberous Sclerosis 2	Associate	8554072
Urologic Diseases	Associate	28992127
Ventricular Dysfunction	Associate	30464138

PKD1 (polycystin 1, transient receptor potential channel interacting)