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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5310
Gene name Gene Name - the full gene name approved by the HGNC.	Polycystin 1, transient receptor potential channel interacting
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PKD1
Synonyms (NCBI Gene) Gene synonyms aliases	PBP, PC1, Pc-1, TRPP1, eliosin
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(245)

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

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 blotting, Immunoprecipitaion (IP), Immunofluorescence, qRT-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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
polycystic kidney disease	Polycystic kidney disease	rs1555445192, rs1616940, rs1567200516, rs1325300747, rs1452322332, rs1555455457, rs752114168, rs1555452653, rs1555455998, rs1555454353, rs1555444985, rs1567166045, rs1567173924, rs747483368, rs2092503169 View all (38 more)	N/A
Polycystic kidney disease	Polycystic kidney disease, adult type, autosomal dominant polycystic kidney disease, Polycystic liver disease 1, autosomal recessive polycystic kidney disease	rs1596485727, rs867092741, rs2047525622, rs1555444715, rs1567219527, rs1452322332, rs1567176750, rs1174034883, rs1057516202, rs1555447011, rs1555456744, rs750913623, rs2092660457, rs199476097, rs1555455457 View all (272 more)	N/A
Polycystic Kidney Disease With Or Without Polycystic Liver Disease	polycystic kidney disease 3 with or without polycystic liver disease	rs1567187420, rs1567195868, rs1567190244, rs199476100, rs1616940	N/A
renal cyst	Renal cyst	rs1555454411	N/A
Renal Insufficiency	renal insufficiency	rs1596536873	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bile Duct Neoplasms	Bile duct cancer	N/A	N/A	ClinVar
Bladder Exstrophy And Epispadias Complex	Bladder exstrophy-epispadias-cloacal extrophy complex	N/A	N/A	ClinVar
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Kidney Disease	Chronic kidney disease	N/A	N/A	ClinVar
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (116)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)