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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7248
Gene name Gene Name - the full gene name approved by the HGNC.	TSC complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TSC1
Synonyms (NCBI Gene) Gene synonyms aliases	LAM, TSC
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapam

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35958226	C>T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs75820036	G>A,C,T	Conflicting-interpretations-of-pathogenicity, not-provided, benign-likely-benign, pathogenic, benign, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs77464996	G>A,T	Conflicting-interpretations-of-pathogenicity, not-provided, likely-benign, benign, uncertain-significance	Missense variant, coding sequence variant
rs118203345	A>C,G	Likely-pathogenic, not-provided	Coding sequence variant, missense variant, intron variant
rs118203352	T>G	Pathogenic, not-provided	Splice acceptor variant, intron variant
rs118203353	C>A,T	Pathogenic, likely-pathogenic, not-provided	Splice acceptor variant, intron variant
rs118203360	AG>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs118203362	->T,TT	Pathogenic, not-provided	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs118203370	C>A,T	Likely-pathogenic, not-provided	Synonymous variant, 5 prime UTR variant, intron variant, coding sequence variant, missense variant
rs118203372	C>A,T	Likely-pathogenic, not-provided	Intron variant, splice donor variant
rs118203380	ACACCAAGACGC>TG	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203384	G>A,C	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant, stop gained
rs118203387	C>T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203388	G>T	Pathogenic	Coding sequence variant, stop gained
rs118203395	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, not-provided	Coding sequence variant, missense variant
rs118203396	A>G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs118203398	G>A,C	Benign, pathogenic, likely-benign, not-provided	Coding sequence variant, synonymous variant, stop gained
rs118203402	C>G,T	Likely-pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs118203403	A>C,G,T	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs118203417	AA>-,A	Pathogenic, not-provided	Coding sequence variant, frameshift variant, stop gained
rs118203419	C>T	Likely-pathogenic, pathogenic, not-provided	Splice donor variant
rs118203423	C>G,T	Likely-pathogenic, pathogenic, not-provided	Splice acceptor variant
rs118203426	A>C,T	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs118203427	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203434	G>A	Pathogenic	Coding sequence variant, stop gained
rs118203435	C>-,CCC	Pathogenic, not-provided	Coding sequence variant, splice donor variant
rs118203436	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic, not-provided	Coding sequence variant, missense variant
rs118203438	C>A,T	Pathogenic, not-provided	Splice donor variant
rs118203439	T>C	Likely-pathogenic, uncertain-significance, not-provided	Intron variant
rs118203440	T>A,C	Likely-pathogenic, pathogenic, not-provided	Splice acceptor variant
rs118203447	A>C,G,T	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant, stop gained
rs118203450	C>A,T	Likely-benign, pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant, stop gained
rs118203451	AT>-	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203454	A>C	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203463	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203464	GT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203474	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant, stop gained
rs118203477	AG>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203478	->A,AA	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203479	CA>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203501	T>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203504	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic, benign, likely-benign	Coding sequence variant, stop gained, missense variant
rs118203506	G>-,GG	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203509	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203527	CTTT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203537	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203542	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203544	GT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203549	G>A	Likely-pathogenic, pathogenic, not-provided	Coding sequence variant, stop gained
rs118203550	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203557	TTTCATCAGCACTGCCGCAGGGC>-,TTTCATCAGCACTGCCGCAGGGCTTTCATCAGCACTGCCGCAGGGC	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203563	G>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203564	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203597	GT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203599	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203603	->T	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203606	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203610	C>G,T	Pathogenic, not-provided	Splice donor variant
rs118203614	C>A,G,T	Pathogenic, not-provided	Splice acceptor variant
rs118203620	C>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203631	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203638	AACT>-,AACTAACT	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203645	TA>-	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203647	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203650	C>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203657	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs118203661	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203662	C>T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203668	G>C,T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203670	T>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, likely-benign	Coding sequence variant, missense variant
rs118203673	G>A,C	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, missense variant, stop gained
rs118203680	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203682	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203685	C>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203687	C>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203704	T>C	Pathogenic, not-provided	Splice acceptor variant
rs118203706	G>C	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203707	TTTG>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203709	->T	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203711	CAAC>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203712	C>-,CC	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203717	T>A,C,G	Likely-pathogenic, not-provided	Splice acceptor variant
rs118203720	G>A	Conflicting-interpretations-of-pathogenicity, not-provided, benign, likely-benign	Coding sequence variant, synonymous variant
rs118203723	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided	Coding sequence variant, missense variant
rs118203724	T>-,TT,TTT	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203726	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs118203727	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203728	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203732	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203735	G>A	Pathogenic, not-provided	Coding sequence variant, stop gained
rs118203742	C>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, missense variant
rs118203745	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, not-provided	Coding sequence variant, synonymous variant, missense variant
rs142662480	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs142954164	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, synonymous variant, coding sequence variant
rs148931779	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199620268	A>C	Not-provided, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs200200869	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs200514807	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201452238	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202241429	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs281875358	AG>-,AGAG	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs368481360	C>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371225009	T>C,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs371555137	T>C,G	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs371908551	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs372215435	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs373454700	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374222196	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375956049	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs377598226	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514774	G>A	Pathogenic, not-provided	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs397514776	A>C	Pathogenic, not-provided	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs397514777	CC>-,CCC	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs397514783	G>A,T	Pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs397514800	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Missense variant, coding sequence variant
rs397514842	C>T	Pathogenic, not-provided	Splice donor variant
rs397514859	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided	Missense variant, coding sequence variant
rs397514861	T>-	Pathogenic, not-provided	Intron variant, frameshift variant, coding sequence variant
rs397514862	G>A,T	Uncertain-significance, pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs397514867	G>C	Pathogenic, not-provided	Stop gained, coding sequence variant
rs397514871	G>A	Pathogenic, not-provided	Stop gained, coding sequence variant
rs397514874	G>A	Pathogenic, not-provided	Stop gained, coding sequence variant
rs535868591	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs548002938	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs745384145	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs747602915	C>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs748901883	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs749030456	G>A	Uncertain-significance, likely-benign, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs749979841	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs750512029	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant
rs752054698	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs752290177	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs753360364	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs753838459	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs761959210	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs765695557	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs769566267	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs773003016	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs775869914	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs779395169	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant, intron variant, 5 prime UTR variant
rs779599439	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs781371665	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs794727320	CACT>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053462	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs796053464	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053466	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053470	->A	Pathogenic	Coding sequence variant, stop gained
rs796053471	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039662	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039735	CTGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041456	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041524	C>A	Pathogenic	Coding sequence variant, stop gained
rs886041538	C>A	Pathogenic	Coding sequence variant, stop gained
rs886041638	T>C	Pathogenic	Splice acceptor variant
rs886041684	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041959	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs886041977	GTGGTGACATCGGCTGAACGATGAGGAAAGCG>AACGATGAGGAAAGC	Pathogenic	Coding sequence variant, frameshift variant
rs886042012	->AAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTC	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs940292214	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, coding sequence variant, missense variant
rs1057517842	GAGT>AAACGCTCTTAAAACAA	Pathogenic	Coding sequence variant, frameshift variant
rs1057518217	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1057518945	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519319	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057520444	T>A	Pathogenic	Coding sequence variant, stop gained
rs1060503192	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1060503210	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503213	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503224	C>G	Likely-pathogenic	Splice donor variant
rs1060505021	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1064793494	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1064793693	ATT>G	Pathogenic	Coding sequence variant, frameshift variant
rs1064793844	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794132	A>T	Likely-pathogenic, pathogenic	Splice donor variant
rs1064794504	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1064794760	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs1064795285	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796162	GTTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796237	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, stop gained
rs1114167619	G>A	Pathogenic	Coding sequence variant, stop gained
rs1114167620	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1157060310	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1447417010	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554813331	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554813568	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs1554814935	->CGGTCATGCTGCAGCTGTCT	Pathogenic	Coding sequence variant, frameshift variant
rs1554815049	CTCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554815054	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554815246	->GCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1554815454	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554815476	GGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554815828	GCCCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554815829	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554815856	A>-	Pathogenic	Coding sequence variant, stop gained
rs1554815889	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554815914	TCCCGCA>GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554816029	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554816076	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554816245	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554816394	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554816432	C>T	Pathogenic	Splice acceptor variant
rs1554817140	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554817164	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554817222	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554817227	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554817259	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554817334	T>C	Likely-pathogenic	Intron variant
rs1554817336	A>G	Likely-pathogenic	Splice donor variant
rs1554817344	TTATCAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554817388	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554817612	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1554817676	TCGATCAC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554817691	C>A	Pathogenic	Coding sequence variant, stop gained
rs1554817707	CACCT>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1554819509	->CTTGACCACTTCT	Pathogenic	Coding sequence variant, frameshift variant
rs1554819620	C>T	Likely-pathogenic	Splice acceptor variant
rs1554819870	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs1554819896	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554819900	AGAAG>GAAA	Pathogenic	Coding sequence variant, frameshift variant
rs1554819932	TG>A	Pathogenic	Coding sequence variant, frameshift variant
rs1554820321	A>C	Likely-pathogenic	Intron variant
rs1554820976	A>G	Likely-pathogenic	Splice donor variant
rs1554821022	CAGCATGGCAAGAAGCTCC>TTG	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1564474974	CAACAGCTGCCTGTTCAAGAAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564475884	G>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1564477162	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1564478705	->GA	Pathogenic	Frameshift variant, coding sequence variant
rs1564480935	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564481122	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564482288	GCTGAGAAC>CA	Pathogenic	Frameshift variant, coding sequence variant
rs1564482622	C>A	Pathogenic	Stop gained, coding sequence variant
rs1564488264	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1564488773	GG>-,G	Pathogenic	Frameshift variant, coding sequence variant
rs1564488810	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs1564490210	C>T	Likely-pathogenic	Splice acceptor variant
rs1564497308	A>G	Likely-pathogenic	Splice donor variant
rs1564497826	T>A	Pathogenic	Stop gained, coding sequence variant
rs1564504869	->TTTAA	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1588290078	G>A	Pathogenic	Coding sequence variant, stop gained
rs1588290111	T>C	Likely-pathogenic	Splice acceptor variant
rs1588290641	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588290658	->GG	Pathogenic	Coding sequence variant, frameshift variant
rs1588291118	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588297391	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1588298866	TCTTCTTA>-	Likely-pathogenic	Intron variant, splice donor variant
rs1588299158	T>A	Pathogenic	Coding sequence variant, stop gained
rs1588299201	G>-	Pathogenic	Coding sequence variant, stop gained
rs1588301269	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588301374	TCTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588301951	G>A	Pathogenic	Coding sequence variant, stop gained
rs1588303890	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588303969	->GCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1588309702	->GTCTGGCA	Pathogenic	Coding sequence variant, frameshift variant
rs1588310754	G>A	Pathogenic	Coding sequence variant, stop gained
rs1588312765	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588321344	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588322764	CTGTA>-	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1588324435	GCTGCCCTGGCATA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588324615	TATTTAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588326629	->GTGGTGACATCGGCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1588345595	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1588350477	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588355566	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs1588355628	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs1588355838	C>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, stop gained
rs1588359822	->ATAG	Pathogenic	Coding sequence variant, frameshift variant, intron variant

Show/Hide all(585)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006630	hsa-miR-32-5p	Luciferase reporter assay, qRT-PCR, Western blot	22431589
MIRT019220	hsa-miR-335-5p	Microarray	18185580
MIRT044756	hsa-miR-320a	CLASH	23622248
MIRT044265	hsa-miR-106b-5p	CLASH	23622248
MIRT041346	hsa-miR-193b-3p	CLASH	23622248
MIRT626526	hsa-miR-548u	HITS-CLIP	23824327
MIRT626525	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT626524	hsa-miR-8087	HITS-CLIP	23824327
MIRT626523	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626522	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626521	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT626520	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT626519	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626518	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT626517	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT626516	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT726226	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726227	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT006630	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT735632	hsa-miR-451a	qRT-PCR, Western blot	26458815
MIRT735632	hsa-miR-451a	Flow, Luciferase reporter assay, qRT-PCR, Western blot	25915427
MIRT735632	hsa-miR-451a	Luciferase reporter assay, Western blotting, qRT-PCR	32013265
MIRT726227	hsa-miR-92b-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR	31975504
MIRT626526	hsa-miR-548u	HITS-CLIP	23824327
MIRT626525	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT626524	hsa-miR-8087	HITS-CLIP	23824327
MIRT626523	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626522	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626521	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT626520	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT626519	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626518	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT626517	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT626516	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT1458051	hsa-miR-103a	CLIP-seq
MIRT1458052	hsa-miR-107	CLIP-seq
MIRT1458053	hsa-miR-1197	CLIP-seq
MIRT1458054	hsa-miR-1237	CLIP-seq
MIRT1458055	hsa-miR-1248	CLIP-seq
MIRT1458056	hsa-miR-1301	CLIP-seq
MIRT1458057	hsa-miR-186	CLIP-seq
MIRT1458058	hsa-miR-21	CLIP-seq
MIRT1458059	hsa-miR-2276	CLIP-seq
MIRT1458060	hsa-miR-3064-3p	CLIP-seq
MIRT1458061	hsa-miR-320b	CLIP-seq
MIRT1458062	hsa-miR-320c	CLIP-seq
MIRT1458063	hsa-miR-320d	CLIP-seq
MIRT1458064	hsa-miR-320e	CLIP-seq
MIRT1458065	hsa-miR-361-5p	CLIP-seq
MIRT1458066	hsa-miR-3622b-5p	CLIP-seq
MIRT1458067	hsa-miR-3646	CLIP-seq
MIRT1458068	hsa-miR-4253	CLIP-seq
MIRT1458069	hsa-miR-4304	CLIP-seq
MIRT1458070	hsa-miR-433	CLIP-seq
MIRT1458071	hsa-miR-4429	CLIP-seq
MIRT1458072	hsa-miR-4476	CLIP-seq
MIRT1458073	hsa-miR-4480	CLIP-seq
MIRT1458074	hsa-miR-450b-3p	CLIP-seq
MIRT1458075	hsa-miR-4643	CLIP-seq
MIRT1458076	hsa-miR-4662a-3p	CLIP-seq
MIRT1458077	hsa-miR-4667-5p	CLIP-seq
MIRT1458078	hsa-miR-4672	CLIP-seq
MIRT1458079	hsa-miR-4700-5p	CLIP-seq
MIRT1458080	hsa-miR-4712-3p	CLIP-seq
MIRT1458081	hsa-miR-4713-3p	CLIP-seq
MIRT1458082	hsa-miR-4715-3p	CLIP-seq
MIRT1458083	hsa-miR-4717-3p	CLIP-seq
MIRT1458084	hsa-miR-4737	CLIP-seq
MIRT1458085	hsa-miR-4776-3p	CLIP-seq
MIRT1458086	hsa-miR-500a	CLIP-seq
MIRT1458087	hsa-miR-5047	CLIP-seq
MIRT1458088	hsa-miR-590-5p	CLIP-seq
MIRT1458089	hsa-miR-603	CLIP-seq
MIRT1458090	hsa-miR-637	CLIP-seq
MIRT1458091	hsa-miR-638	CLIP-seq
MIRT1458092	hsa-miR-664	CLIP-seq
MIRT1458093	hsa-miR-7	CLIP-seq
MIRT1458094	hsa-miR-769-3p	CLIP-seq
MIRT1458095	hsa-miR-873	CLIP-seq
MIRT1458051	hsa-miR-103a	CLIP-seq
MIRT1458052	hsa-miR-107	CLIP-seq
MIRT1458096	hsa-miR-1279	CLIP-seq
MIRT1458056	hsa-miR-1301	CLIP-seq
MIRT1458097	hsa-miR-130a	CLIP-seq
MIRT1458098	hsa-miR-130b	CLIP-seq
MIRT1458099	hsa-miR-25	CLIP-seq
MIRT1458100	hsa-miR-301a	CLIP-seq
MIRT1458101	hsa-miR-301b	CLIP-seq
MIRT1458102	hsa-miR-3129-3p	CLIP-seq
MIRT1458103	hsa-miR-3189-3p	CLIP-seq
MIRT1458104	hsa-miR-32	CLIP-seq
MIRT1458105	hsa-miR-335	CLIP-seq
MIRT1458106	hsa-miR-363	CLIP-seq
MIRT1458107	hsa-miR-3666	CLIP-seq
MIRT1458108	hsa-miR-367	CLIP-seq
MIRT1458109	hsa-miR-3974	CLIP-seq
MIRT1458068	hsa-miR-4253	CLIP-seq
MIRT1458110	hsa-miR-4271	CLIP-seq
MIRT1458111	hsa-miR-4274	CLIP-seq
MIRT1458112	hsa-miR-4295	CLIP-seq
MIRT1458113	hsa-miR-4312	CLIP-seq
MIRT1458074	hsa-miR-450b-3p	CLIP-seq
MIRT1458114	hsa-miR-454	CLIP-seq
MIRT1458077	hsa-miR-4667-5p	CLIP-seq
MIRT1458079	hsa-miR-4700-5p	CLIP-seq
MIRT1458081	hsa-miR-4713-3p	CLIP-seq
MIRT1458115	hsa-miR-4720-3p	CLIP-seq
MIRT1458116	hsa-miR-4725-3p	CLIP-seq
MIRT1458117	hsa-miR-4733-5p	CLIP-seq
MIRT1458118	hsa-miR-4747-5p	CLIP-seq
MIRT1458119	hsa-miR-4757-5p	CLIP-seq
MIRT1458120	hsa-miR-4804-3p	CLIP-seq
MIRT1458121	hsa-miR-493	CLIP-seq
MIRT1458087	hsa-miR-5047	CLIP-seq
MIRT1458122	hsa-miR-513a-3p	CLIP-seq
MIRT1458123	hsa-miR-519a	CLIP-seq
MIRT1458124	hsa-miR-519b-3p	CLIP-seq
MIRT1458125	hsa-miR-519c-3p	CLIP-seq
MIRT1458126	hsa-miR-532-5p	CLIP-seq
MIRT1458090	hsa-miR-637	CLIP-seq
MIRT1458091	hsa-miR-638	CLIP-seq
MIRT1458094	hsa-miR-769-3p	CLIP-seq
MIRT1458127	hsa-miR-92a	CLIP-seq
MIRT1458128	hsa-miR-92b	CLIP-seq
MIRT2137419	hsa-miR-1179	CLIP-seq
MIRT2137420	hsa-miR-1202	CLIP-seq
MIRT2137421	hsa-miR-1227	CLIP-seq
MIRT2137422	hsa-miR-1228	CLIP-seq
MIRT2137423	hsa-miR-136	CLIP-seq
MIRT2137424	hsa-miR-141	CLIP-seq
MIRT2137425	hsa-miR-15a	CLIP-seq
MIRT2137426	hsa-miR-15b	CLIP-seq
MIRT2137427	hsa-miR-16	CLIP-seq
MIRT2137428	hsa-miR-1912	CLIP-seq
MIRT2137429	hsa-miR-195	CLIP-seq
MIRT2137430	hsa-miR-200a	CLIP-seq
MIRT2137431	hsa-miR-204	CLIP-seq
MIRT2137432	hsa-miR-211	CLIP-seq
MIRT2137433	hsa-miR-221	CLIP-seq
MIRT2137434	hsa-miR-222	CLIP-seq
MIRT2137435	hsa-miR-2681	CLIP-seq
MIRT2137436	hsa-miR-3065-5p	CLIP-seq
MIRT2137437	hsa-miR-3121-5p	CLIP-seq
MIRT2137438	hsa-miR-3150b-3p	CLIP-seq
MIRT2137439	hsa-miR-3151	CLIP-seq
MIRT2137440	hsa-miR-3169	CLIP-seq
MIRT2137441	hsa-miR-3194-5p	CLIP-seq
MIRT2137442	hsa-miR-338-3p	CLIP-seq
MIRT2137443	hsa-miR-338-5p	CLIP-seq
MIRT2137444	hsa-miR-3615	CLIP-seq
MIRT1458065	hsa-miR-361-5p	CLIP-seq
MIRT2137445	hsa-miR-3667-3p	CLIP-seq
MIRT2137446	hsa-miR-3692	CLIP-seq
MIRT2137447	hsa-miR-3945	CLIP-seq
MIRT2137448	hsa-miR-3972	CLIP-seq
MIRT2137449	hsa-miR-3973	CLIP-seq
MIRT2137450	hsa-miR-424	CLIP-seq
MIRT1458068	hsa-miR-4253	CLIP-seq
MIRT2137451	hsa-miR-4310	CLIP-seq
MIRT1458113	hsa-miR-4312	CLIP-seq
MIRT2137452	hsa-miR-4463	CLIP-seq
MIRT2137453	hsa-miR-4514	CLIP-seq
MIRT2137454	hsa-miR-4645-5p	CLIP-seq
MIRT2137455	hsa-miR-4659a-3p	CLIP-seq
MIRT2137456	hsa-miR-4659b-3p	CLIP-seq
MIRT2137457	hsa-miR-4667-3p	CLIP-seq
MIRT1458078	hsa-miR-4672	CLIP-seq
MIRT2137458	hsa-miR-4673	CLIP-seq
MIRT2137459	hsa-miR-4689	CLIP-seq
MIRT2137460	hsa-miR-4692	CLIP-seq
MIRT2137461	hsa-miR-4704-3p	CLIP-seq
MIRT2137462	hsa-miR-4713-5p	CLIP-seq
MIRT2137463	hsa-miR-4727-3p	CLIP-seq
MIRT2137464	hsa-miR-4727-5p	CLIP-seq
MIRT2137465	hsa-miR-4731-3p	CLIP-seq
MIRT2137466	hsa-miR-4733-3p	CLIP-seq
MIRT2137467	hsa-miR-4740-5p	CLIP-seq
MIRT2137468	hsa-miR-4755-5p	CLIP-seq
MIRT1458119	hsa-miR-4757-5p	CLIP-seq
MIRT2137469	hsa-miR-4769-3p	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT1458085	hsa-miR-4776-3p	CLIP-seq
MIRT2137471	hsa-miR-4780	CLIP-seq
MIRT2137472	hsa-miR-4784	CLIP-seq
MIRT2137473	hsa-miR-4789-5p	CLIP-seq
MIRT2137474	hsa-miR-4801	CLIP-seq
MIRT2137475	hsa-miR-483-3p	CLIP-seq
MIRT2137476	hsa-miR-486-3p	CLIP-seq
MIRT2137477	hsa-miR-489	CLIP-seq
MIRT2137478	hsa-miR-497	CLIP-seq
MIRT2137479	hsa-miR-499a-5p	CLIP-seq
MIRT1458122	hsa-miR-513a-3p	CLIP-seq
MIRT2137480	hsa-miR-513b	CLIP-seq
MIRT2137481	hsa-miR-515-5p	CLIP-seq
MIRT2137482	hsa-miR-548aa	CLIP-seq
MIRT2137483	hsa-miR-548k	CLIP-seq
MIRT2137484	hsa-miR-548v	CLIP-seq
MIRT2137485	hsa-miR-591	CLIP-seq
MIRT2137486	hsa-miR-606	CLIP-seq
MIRT2137487	hsa-miR-623	CLIP-seq
MIRT2137488	hsa-miR-627	CLIP-seq
MIRT2137489	hsa-miR-635	CLIP-seq
MIRT2137490	hsa-miR-668	CLIP-seq
MIRT2137491	hsa-miR-940	CLIP-seq
MIRT2358159	hsa-let-7a	CLIP-seq
MIRT2358160	hsa-let-7b	CLIP-seq
MIRT2358161	hsa-let-7c	CLIP-seq
MIRT2358162	hsa-let-7d	CLIP-seq
MIRT2358163	hsa-let-7e	CLIP-seq
MIRT2358164	hsa-let-7f	CLIP-seq
MIRT2358165	hsa-let-7g	CLIP-seq
MIRT2358166	hsa-let-7i	CLIP-seq
MIRT1458051	hsa-miR-103a	CLIP-seq
MIRT1458052	hsa-miR-107	CLIP-seq
MIRT2358167	hsa-miR-10a	CLIP-seq
MIRT2358168	hsa-miR-10b	CLIP-seq
MIRT2358169	hsa-miR-1178	CLIP-seq
MIRT2137419	hsa-miR-1179	CLIP-seq
MIRT2358170	hsa-miR-1184	CLIP-seq
MIRT2358171	hsa-miR-1207-3p	CLIP-seq
MIRT2358172	hsa-miR-1226	CLIP-seq
MIRT2137422	hsa-miR-1228	CLIP-seq
MIRT1458054	hsa-miR-1237	CLIP-seq
MIRT2358173	hsa-miR-1243	CLIP-seq
MIRT2358174	hsa-miR-1245	CLIP-seq
MIRT1458055	hsa-miR-1248	CLIP-seq
MIRT2358175	hsa-miR-125a-3p	CLIP-seq
MIRT2358176	hsa-miR-1266	CLIP-seq
MIRT2358177	hsa-miR-1275	CLIP-seq
MIRT2358178	hsa-miR-128	CLIP-seq
MIRT2358179	hsa-miR-1286	CLIP-seq
MIRT2358180	hsa-miR-1288	CLIP-seq
MIRT2358181	hsa-miR-1296	CLIP-seq
MIRT1458056	hsa-miR-1301	CLIP-seq
MIRT2358182	hsa-miR-1302	CLIP-seq
MIRT1458097	hsa-miR-130a	CLIP-seq
MIRT1458098	hsa-miR-130b	CLIP-seq
MIRT2358183	hsa-miR-140-3p	CLIP-seq
MIRT2137424	hsa-miR-141	CLIP-seq
MIRT2358184	hsa-miR-1470	CLIP-seq
MIRT2358185	hsa-miR-154	CLIP-seq
MIRT2137425	hsa-miR-15a	CLIP-seq
MIRT2137426	hsa-miR-15b	CLIP-seq
MIRT2137427	hsa-miR-16	CLIP-seq
MIRT2358186	hsa-miR-185	CLIP-seq
MIRT1458057	hsa-miR-186	CLIP-seq
MIRT2358187	hsa-miR-18a	CLIP-seq
MIRT2358188	hsa-miR-18b	CLIP-seq
MIRT2358189	hsa-miR-1914	CLIP-seq
MIRT2137429	hsa-miR-195	CLIP-seq
MIRT2358190	hsa-miR-196a	CLIP-seq
MIRT2358191	hsa-miR-196b	CLIP-seq
MIRT2358192	hsa-miR-19a	CLIP-seq
MIRT2358193	hsa-miR-19b	CLIP-seq
MIRT2137430	hsa-miR-200a	CLIP-seq
MIRT1458058	hsa-miR-21	CLIP-seq
MIRT2358194	hsa-miR-2116	CLIP-seq
MIRT2137433	hsa-miR-221	CLIP-seq
MIRT2137434	hsa-miR-222	CLIP-seq
MIRT2358195	hsa-miR-2278	CLIP-seq
MIRT2358196	hsa-miR-27a	CLIP-seq
MIRT2358197	hsa-miR-27b	CLIP-seq
MIRT2358198	hsa-miR-2861	CLIP-seq
MIRT2358199	hsa-miR-2909	CLIP-seq
MIRT2358200	hsa-miR-29a	CLIP-seq
MIRT2358201	hsa-miR-29b	CLIP-seq
MIRT2358202	hsa-miR-29c	CLIP-seq
MIRT1458100	hsa-miR-301a	CLIP-seq
MIRT1458101	hsa-miR-301b	CLIP-seq
MIRT2358203	hsa-miR-3065-3p	CLIP-seq
MIRT2137436	hsa-miR-3065-5p	CLIP-seq
MIRT2358204	hsa-miR-30a	CLIP-seq
MIRT2358205	hsa-miR-30b	CLIP-seq
MIRT2358206	hsa-miR-30c	CLIP-seq
MIRT2358207	hsa-miR-30d	CLIP-seq
MIRT2358208	hsa-miR-30e	CLIP-seq
MIRT2358209	hsa-miR-3141	CLIP-seq
MIRT2137439	hsa-miR-3151	CLIP-seq
MIRT2358210	hsa-miR-3153	CLIP-seq
MIRT2137440	hsa-miR-3169	CLIP-seq
MIRT2358211	hsa-miR-3185	CLIP-seq
MIRT2358212	hsa-miR-3187-3p	CLIP-seq
MIRT1458103	hsa-miR-3189-3p	CLIP-seq
MIRT1458061	hsa-miR-320b	CLIP-seq
MIRT1458062	hsa-miR-320c	CLIP-seq
MIRT1458063	hsa-miR-320d	CLIP-seq
MIRT2358213	hsa-miR-323b-3p	CLIP-seq
MIRT2358214	hsa-miR-329	CLIP-seq
MIRT2358215	hsa-miR-331-5p	CLIP-seq
MIRT1458105	hsa-miR-335	CLIP-seq
MIRT2137442	hsa-miR-338-3p	CLIP-seq
MIRT2137443	hsa-miR-338-5p	CLIP-seq
MIRT2358216	hsa-miR-345	CLIP-seq
MIRT2358217	hsa-miR-3591-3p	CLIP-seq
MIRT2358218	hsa-miR-3613-3p	CLIP-seq
MIRT1458065	hsa-miR-361-5p	CLIP-seq
MIRT2358219	hsa-miR-3621	CLIP-seq
MIRT1458066	hsa-miR-3622b-5p	CLIP-seq
MIRT2358220	hsa-miR-362-3p	CLIP-seq
MIRT2358221	hsa-miR-3650	CLIP-seq
MIRT2358222	hsa-miR-3656	CLIP-seq
MIRT2358223	hsa-miR-3664-3p	CLIP-seq
MIRT1458107	hsa-miR-3666	CLIP-seq
MIRT2137446	hsa-miR-3692	CLIP-seq
MIRT2358224	hsa-miR-375	CLIP-seq
MIRT2358225	hsa-miR-384	CLIP-seq
MIRT2358226	hsa-miR-3925-3p	CLIP-seq
MIRT2358227	hsa-miR-3926	CLIP-seq
MIRT2358228	hsa-miR-3934	CLIP-seq
MIRT2358229	hsa-miR-3941	CLIP-seq
MIRT2358230	hsa-miR-3944-5p	CLIP-seq
MIRT1458109	hsa-miR-3974	CLIP-seq
MIRT2137450	hsa-miR-424	CLIP-seq
MIRT2358231	hsa-miR-4252	CLIP-seq
MIRT1458068	hsa-miR-4253	CLIP-seq
MIRT2358232	hsa-miR-4254	CLIP-seq
MIRT2358233	hsa-miR-4263	CLIP-seq
MIRT2358234	hsa-miR-4268	CLIP-seq
MIRT1458110	hsa-miR-4271	CLIP-seq
MIRT2358235	hsa-miR-4277	CLIP-seq
MIRT1458112	hsa-miR-4295	CLIP-seq
MIRT2358236	hsa-miR-4298	CLIP-seq
MIRT1458069	hsa-miR-4304	CLIP-seq
MIRT2358237	hsa-miR-4306	CLIP-seq
MIRT2358238	hsa-miR-4308	CLIP-seq
MIRT2137451	hsa-miR-4310	CLIP-seq
MIRT1458113	hsa-miR-4312	CLIP-seq
MIRT2358239	hsa-miR-4315	CLIP-seq
MIRT2358240	hsa-miR-4320	CLIP-seq
MIRT2358241	hsa-miR-4325	CLIP-seq
MIRT2358242	hsa-miR-4330	CLIP-seq
MIRT2358243	hsa-miR-4418	CLIP-seq
MIRT2358244	hsa-miR-4421	CLIP-seq
MIRT2358245	hsa-miR-4422	CLIP-seq
MIRT1458071	hsa-miR-4429	CLIP-seq
MIRT2358246	hsa-miR-4434	CLIP-seq
MIRT2358247	hsa-miR-4435	CLIP-seq
MIRT2358248	hsa-miR-4447	CLIP-seq
MIRT2358249	hsa-miR-4450	CLIP-seq
MIRT2358250	hsa-miR-4454	CLIP-seq
MIRT2358251	hsa-miR-4458	CLIP-seq
MIRT2358252	hsa-miR-4459	CLIP-seq
MIRT2358253	hsa-miR-4461	CLIP-seq
MIRT2137452	hsa-miR-4463	CLIP-seq
MIRT2358254	hsa-miR-4472	CLIP-seq
MIRT2358255	hsa-miR-4494	CLIP-seq
MIRT2358256	hsa-miR-4495	CLIP-seq
MIRT2358257	hsa-miR-4500	CLIP-seq
MIRT1458074	hsa-miR-450b-3p	CLIP-seq
MIRT2358258	hsa-miR-450b-5p	CLIP-seq
MIRT2358259	hsa-miR-4516	CLIP-seq
MIRT2358260	hsa-miR-4518	CLIP-seq
MIRT2358261	hsa-miR-4522	CLIP-seq
MIRT2358262	hsa-miR-4525	CLIP-seq
MIRT2358263	hsa-miR-4531	CLIP-seq
MIRT1458114	hsa-miR-454	CLIP-seq
MIRT1458075	hsa-miR-4643	CLIP-seq
MIRT2358264	hsa-miR-4644	CLIP-seq
MIRT2358265	hsa-miR-4653-3p	CLIP-seq
MIRT2358266	hsa-miR-4665-5p	CLIP-seq
MIRT2137457	hsa-miR-4667-3p	CLIP-seq
MIRT1458077	hsa-miR-4667-5p	CLIP-seq
MIRT2358267	hsa-miR-4671-3p	CLIP-seq
MIRT1458078	hsa-miR-4672	CLIP-seq
MIRT2358268	hsa-miR-4678	CLIP-seq
MIRT2358269	hsa-miR-4680-5p	CLIP-seq
MIRT2358270	hsa-miR-4693-3p	CLIP-seq
MIRT2358271	hsa-miR-4698	CLIP-seq
MIRT1458079	hsa-miR-4700-5p	CLIP-seq
MIRT2358272	hsa-miR-4701-5p	CLIP-seq
MIRT1458081	hsa-miR-4713-3p	CLIP-seq
MIRT1458083	hsa-miR-4717-3p	CLIP-seq
MIRT2358273	hsa-miR-4722-5p	CLIP-seq
MIRT2358274	hsa-miR-4723-5p	CLIP-seq
MIRT1458116	hsa-miR-4725-3p	CLIP-seq
MIRT2358275	hsa-miR-4725-5p	CLIP-seq
MIRT2137463	hsa-miR-4727-3p	CLIP-seq
MIRT2137464	hsa-miR-4727-5p	CLIP-seq
MIRT2137465	hsa-miR-4731-3p	CLIP-seq
MIRT2358276	hsa-miR-4735-3p	CLIP-seq
MIRT1458118	hsa-miR-4747-5p	CLIP-seq
MIRT1458119	hsa-miR-4757-5p	CLIP-seq
MIRT2358277	hsa-miR-4764-5p	CLIP-seq
MIRT2358278	hsa-miR-4766-5p	CLIP-seq
MIRT2137469	hsa-miR-4769-3p	CLIP-seq
MIRT2358279	hsa-miR-4771	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT2358280	hsa-miR-4782-5p	CLIP-seq
MIRT2137474	hsa-miR-4801	CLIP-seq
MIRT2358281	hsa-miR-4802-5p	CLIP-seq
MIRT2137476	hsa-miR-486-3p	CLIP-seq
MIRT2358282	hsa-miR-488	CLIP-seq
MIRT2137477	hsa-miR-489	CLIP-seq
MIRT2358283	hsa-miR-491-3p	CLIP-seq
MIRT2358284	hsa-miR-491-5p	CLIP-seq
MIRT1458121	hsa-miR-493	CLIP-seq
MIRT2137478	hsa-miR-497	CLIP-seq
MIRT2358285	hsa-miR-498	CLIP-seq
MIRT2137479	hsa-miR-499a-5p	CLIP-seq
MIRT2358286	hsa-miR-501-3p	CLIP-seq
MIRT2358287	hsa-miR-502-3p	CLIP-seq
MIRT2358288	hsa-miR-504	CLIP-seq
MIRT1458087	hsa-miR-5047	CLIP-seq
MIRT2358289	hsa-miR-509-3-5p	CLIP-seq
MIRT2358290	hsa-miR-509-5p	CLIP-seq
MIRT1458122	hsa-miR-513a-3p	CLIP-seq
MIRT2358291	hsa-miR-513a-5p	CLIP-seq
MIRT2137481	hsa-miR-515-5p	CLIP-seq
MIRT2358292	hsa-miR-516a-3p	CLIP-seq
MIRT2358293	hsa-miR-516b	CLIP-seq
MIRT1458123	hsa-miR-519a	CLIP-seq
MIRT1458124	hsa-miR-519b-3p	CLIP-seq
MIRT1458125	hsa-miR-519c-3p	CLIP-seq
MIRT1458126	hsa-miR-532-5p	CLIP-seq
MIRT2358294	hsa-miR-541	CLIP-seq
MIRT2358295	hsa-miR-544	CLIP-seq
MIRT2358296	hsa-miR-545	CLIP-seq
MIRT2137482	hsa-miR-548aa	CLIP-seq
MIRT2358297	hsa-miR-548ac	CLIP-seq
MIRT2358298	hsa-miR-548d-3p	CLIP-seq
MIRT2137483	hsa-miR-548k	CLIP-seq
MIRT2358299	hsa-miR-548s	CLIP-seq
MIRT2137484	hsa-miR-548v	CLIP-seq
MIRT2358300	hsa-miR-548z	CLIP-seq
MIRT2358301	hsa-miR-587	CLIP-seq
MIRT2358302	hsa-miR-588	CLIP-seq
MIRT1458088	hsa-miR-590-5p	CLIP-seq
MIRT2358303	hsa-miR-592	CLIP-seq
MIRT2358304	hsa-miR-597	CLIP-seq
MIRT1458089	hsa-miR-603	CLIP-seq
MIRT2358305	hsa-miR-625	CLIP-seq
MIRT2358306	hsa-miR-634	CLIP-seq
MIRT2137489	hsa-miR-635	CLIP-seq
MIRT1458090	hsa-miR-637	CLIP-seq
MIRT1458091	hsa-miR-638	CLIP-seq
MIRT2358307	hsa-miR-642a	CLIP-seq
MIRT2358308	hsa-miR-654-5p	CLIP-seq
MIRT1458093	hsa-miR-7	CLIP-seq
MIRT2358309	hsa-miR-764	CLIP-seq
MIRT2358310	hsa-miR-766	CLIP-seq
MIRT2358311	hsa-miR-767-5p	CLIP-seq
MIRT1458094	hsa-miR-769-3p	CLIP-seq
MIRT2358312	hsa-miR-922	CLIP-seq
MIRT2358313	hsa-miR-98	CLIP-seq
MIRT2396395	hsa-miR-1245b-3p	CLIP-seq
MIRT2137425	hsa-miR-15a	CLIP-seq
MIRT2137426	hsa-miR-15b	CLIP-seq
MIRT2137427	hsa-miR-16	CLIP-seq
MIRT2137429	hsa-miR-195	CLIP-seq
MIRT2358217	hsa-miR-3591-3p	CLIP-seq
MIRT2396396	hsa-miR-3622a-3p	CLIP-seq
MIRT2396397	hsa-miR-3622b-3p	CLIP-seq
MIRT2137450	hsa-miR-424	CLIP-seq
MIRT2137478	hsa-miR-497	CLIP-seq
MIRT2137479	hsa-miR-499a-5p	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT2358285	hsa-miR-498	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT2358285	hsa-miR-498	CLIP-seq
MIRT1458051	hsa-miR-103a	CLIP-seq
MIRT1458052	hsa-miR-107	CLIP-seq
MIRT2358169	hsa-miR-1178	CLIP-seq
MIRT2358170	hsa-miR-1184	CLIP-seq
MIRT2694215	hsa-miR-1193	CLIP-seq
MIRT2694216	hsa-miR-1207-5p	CLIP-seq
MIRT1458054	hsa-miR-1237	CLIP-seq
MIRT2358174	hsa-miR-1245	CLIP-seq
MIRT1458055	hsa-miR-1248	CLIP-seq
MIRT2694217	hsa-miR-1261	CLIP-seq
MIRT2694218	hsa-miR-1267	CLIP-seq
MIRT2694219	hsa-miR-1285	CLIP-seq
MIRT2694220	hsa-miR-1299	CLIP-seq
MIRT2358182	hsa-miR-1302	CLIP-seq
MIRT2694221	hsa-miR-132	CLIP-seq
MIRT2694222	hsa-miR-150	CLIP-seq
MIRT2137425	hsa-miR-15a	CLIP-seq
MIRT2137426	hsa-miR-15b	CLIP-seq
MIRT2137427	hsa-miR-16	CLIP-seq
MIRT2694223	hsa-miR-1910	CLIP-seq
MIRT2137428	hsa-miR-1912	CLIP-seq
MIRT2694224	hsa-miR-1913	CLIP-seq
MIRT2137429	hsa-miR-195	CLIP-seq
MIRT2358194	hsa-miR-2116	CLIP-seq
MIRT2694225	hsa-miR-212	CLIP-seq
MIRT2694226	hsa-miR-2392	CLIP-seq
MIRT2137435	hsa-miR-2681	CLIP-seq
MIRT2694227	hsa-miR-3120-3p	CLIP-seq
MIRT1458102	hsa-miR-3129-3p	CLIP-seq
MIRT2694228	hsa-miR-3130-5p	CLIP-seq
MIRT2694229	hsa-miR-3134	CLIP-seq
MIRT2694230	hsa-miR-3135	CLIP-seq
MIRT2694231	hsa-miR-3136-5p	CLIP-seq
MIRT2694232	hsa-miR-3147	CLIP-seq
MIRT2694233	hsa-miR-3150a-3p	CLIP-seq
MIRT2358210	hsa-miR-3153	CLIP-seq
MIRT2694234	hsa-miR-3160-3p	CLIP-seq
MIRT2694235	hsa-miR-3174	CLIP-seq
MIRT2694236	hsa-miR-3175	CLIP-seq
MIRT2694237	hsa-miR-3187-5p	CLIP-seq
MIRT2694238	hsa-miR-3200-5p	CLIP-seq
MIRT2694239	hsa-miR-324-3p	CLIP-seq
MIRT2694240	hsa-miR-331-3p	CLIP-seq
MIRT1458105	hsa-miR-335	CLIP-seq
MIRT2694241	hsa-miR-3529	CLIP-seq
MIRT2694242	hsa-miR-3605-5p	CLIP-seq
MIRT2694243	hsa-miR-3612	CLIP-seq
MIRT2694244	hsa-miR-3653	CLIP-seq
MIRT2694245	hsa-miR-3661	CLIP-seq
MIRT2694246	hsa-miR-3687	CLIP-seq
MIRT2694247	hsa-miR-379	CLIP-seq
MIRT2694248	hsa-miR-3912	CLIP-seq
MIRT2694249	hsa-miR-3927	CLIP-seq
MIRT2694250	hsa-miR-421	CLIP-seq
MIRT2137450	hsa-miR-424	CLIP-seq
MIRT2694251	hsa-miR-4257	CLIP-seq
MIRT2358233	hsa-miR-4263	CLIP-seq
MIRT2358234	hsa-miR-4268	CLIP-seq
MIRT2694252	hsa-miR-4273	CLIP-seq
MIRT2694253	hsa-miR-4292	CLIP-seq
MIRT2358236	hsa-miR-4298	CLIP-seq
MIRT2694254	hsa-miR-4303	CLIP-seq
MIRT2694255	hsa-miR-4328	CLIP-seq
MIRT1458070	hsa-miR-433	CLIP-seq
MIRT2358242	hsa-miR-4330	CLIP-seq
MIRT2358243	hsa-miR-4418	CLIP-seq
MIRT2694256	hsa-miR-4439	CLIP-seq
MIRT2694257	hsa-miR-4442	CLIP-seq
MIRT2694258	hsa-miR-4443	CLIP-seq
MIRT2694259	hsa-miR-4449	CLIP-seq
MIRT2694260	hsa-miR-4470	CLIP-seq
MIRT2694261	hsa-miR-4482	CLIP-seq
MIRT2358258	hsa-miR-450b-5p	CLIP-seq
MIRT2694262	hsa-miR-4513	CLIP-seq
MIRT2358261	hsa-miR-4522	CLIP-seq
MIRT2694263	hsa-miR-4529-5p	CLIP-seq
MIRT2694264	hsa-miR-4534	CLIP-seq
MIRT2694265	hsa-miR-4539	CLIP-seq
MIRT2694266	hsa-miR-4640-5p	CLIP-seq
MIRT2358265	hsa-miR-4653-3p	CLIP-seq
MIRT2137455	hsa-miR-4659a-3p	CLIP-seq
MIRT2137456	hsa-miR-4659b-3p	CLIP-seq
MIRT2694267	hsa-miR-4677-5p	CLIP-seq
MIRT2694268	hsa-miR-4688	CLIP-seq
MIRT2694269	hsa-miR-4703-3p	CLIP-seq
MIRT2137462	hsa-miR-4713-5p	CLIP-seq
MIRT1458083	hsa-miR-4717-3p	CLIP-seq
MIRT1458115	hsa-miR-4720-3p	CLIP-seq
MIRT2694270	hsa-miR-4726-5p	CLIP-seq
MIRT2137464	hsa-miR-4727-5p	CLIP-seq
MIRT1458117	hsa-miR-4733-5p	CLIP-seq
MIRT2694271	hsa-miR-4736	CLIP-seq
MIRT2694272	hsa-miR-4742-5p	CLIP-seq
MIRT2694273	hsa-miR-4761-5p	CLIP-seq
MIRT2694274	hsa-miR-4763-3p	CLIP-seq
MIRT2694275	hsa-miR-4764-3p	CLIP-seq
MIRT2137469	hsa-miR-4769-3p	CLIP-seq
MIRT2137470	hsa-miR-4773	CLIP-seq
MIRT2358280	hsa-miR-4782-5p	CLIP-seq
MIRT2694276	hsa-miR-4795-5p	CLIP-seq
MIRT2358281	hsa-miR-4802-5p	CLIP-seq
MIRT1458120	hsa-miR-4804-3p	CLIP-seq
MIRT2358282	hsa-miR-488	CLIP-seq
MIRT2358284	hsa-miR-491-5p	CLIP-seq
MIRT2137478	hsa-miR-497	CLIP-seq
MIRT2358285	hsa-miR-498	CLIP-seq
MIRT1458086	hsa-miR-500a	CLIP-seq
MIRT2694277	hsa-miR-508-3p	CLIP-seq
MIRT2694278	hsa-miR-508-5p	CLIP-seq
MIRT2358289	hsa-miR-509-3-5p	CLIP-seq
MIRT2358290	hsa-miR-509-5p	CLIP-seq
MIRT2694279	hsa-miR-5096	CLIP-seq
MIRT2358293	hsa-miR-516b	CLIP-seq
MIRT2694280	hsa-miR-532-3p	CLIP-seq
MIRT2694281	hsa-miR-543	CLIP-seq
MIRT2358296	hsa-miR-545	CLIP-seq
MIRT2137482	hsa-miR-548aa	CLIP-seq
MIRT2358301	hsa-miR-587	CLIP-seq
MIRT2137486	hsa-miR-606	CLIP-seq
MIRT2694282	hsa-miR-612	CLIP-seq
MIRT2137488	hsa-miR-627	CLIP-seq
MIRT2694283	hsa-miR-631	CLIP-seq
MIRT2694284	hsa-miR-650	CLIP-seq
MIRT2694285	hsa-miR-657	CLIP-seq
MIRT2694286	hsa-miR-924	CLIP-seq
MIRT2694287	hsa-miR-939	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
AR	Repression	21036700

Show/Hide all(74)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001952	Process	Regulation of cell-matrix adhesion	IMP	10806479
GO:0002250	Process	Adaptive immune response	IEA
GO:0005515	Function	Protein binding	IPI	9580671, 9809973, 10585443, 10806479, 12226091, 17355907, 17658474, 17693255, 18381890, 18692468, 20368287, 20412061, 21134130, 21653829, 25263562, 26893383, 28514442, 28561026, 33436626, 33961781, 38890443
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	9580671
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	24529379
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005811	Component	Lipid droplet	IDA
GO:0005829	Component	Cytosol	IDA	10585443, 24529379
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005884	Component	Actin filament	IDA	10806479
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IDA	10806479
GO:0006457	Process	Protein folding	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0007160	Process	Cell-matrix adhesion	IMP	10806479
GO:0007399	Process	Nervous system development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	10915759
GO:0008306	Process	Associative learning	IEA
GO:0008344	Process	Adult locomotory behavior	ISS
GO:0009267	Process	Cellular response to starvation	IDA	24529379
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IDA	16636147
GO:0016020	Component	Membrane	IEA
GO:0016242	Process	Negative regulation of macroautophagy	ISS
GO:0021766	Process	Hippocampus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030027	Component	Lamellipodium	IDA	10806479
GO:0030030	Process	Cell projection organization	IEA
GO:0030544	Function	Hsp70 protein binding	IDA	29127155
GO:0032007	Process	Negative regulation of TOR signaling	IBA
GO:0032007	Process	Negative regulation of TOR signaling	IDA	22795129
GO:0032007	Process	Negative regulation of TOR signaling	IMP	17308101, 28215400
GO:0032007	Process	Negative regulation of TOR signaling	ISS
GO:0032780	Process	Negative regulation of ATP-dependent activity	IDA	29127155
GO:0032868	Process	Response to insulin	IDA	16996505
GO:0032991	Component	Protein-containing complex	IDA	10585443
GO:0033596	Component	TSC1-TSC2 complex	EXP	26893383
GO:0033596	Component	TSC1-TSC2 complex	IBA
GO:0033596	Component	TSC1-TSC2 complex	IDA	9580671, 12172553, 12842888, 12906785, 24529379, 33436626
GO:0033596	Component	TSC1-TSC2 complex	IPI	22795129
GO:0036064	Component	Ciliary basal body	IDA
GO:0036294	Process	Cellular response to decreased oxygen levels	ISS
GO:0038202	Process	TORC1 signaling	IDA	12087098
GO:0042030	Function	ATPase inhibitor activity	IDA	29127155
GO:0042030	Function	ATPase inhibitor activity	IEA
GO:0042552	Process	Myelination	IEA
GO:0043379	Process	Memory T cell differentiation	IEA
GO:0044183	Function	Protein folding chaperone	IDA	10585443
GO:0045792	Process	Negative regulation of cell size	IEA
GO:0046323	Process	D-glucose import	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0050808	Process	Synapse organization	IEA
GO:0050821	Process	Protein stabilization	IDA	11175345
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IMP	29127155
GO:0051087	Function	Protein-folding chaperone binding	IPI	10585443
GO:0051492	Process	Regulation of stress fiber assembly	IDA	10806479
GO:0051726	Process	Regulation of cell cycle	IBA
GO:0051879	Function	Hsp90 protein binding	IPI	29127155
GO:0051894	Process	Positive regulation of focal adhesion assembly	IDA	10806479
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0090630	Process	Activation of GTPase activity	IDA	10806479
GO:0101031	Component	Protein folding chaperone complex	IDA	29127155
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	12172553, 12842888, 12906785, 24529379
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	12172553

MIM	HGNC	e!Ensembl
605284	12362	ENSG00000165699

Protein

UniProt ID

Q92574

Protein name

Hamartin (Tuberous sclerosis 1 protein)

Protein function

Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule bi

PDB

4Z6Y , 5EJC , 7DL2 , 9C9I , 9CE3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04388	Hamartin	7 → 719	Hamartin protein	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney (PubMed:9242607). Also expressed in embryonic kidney cells (PubMed:9242607). {ECO:0000269|PubMed:9242607}.

Sequence

MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHI
LTTLQEPHDKHLLDRINEYVGKAATRLSILSLLGHVIRLQPSWKHKLSQAPLLPSLLKCL
KMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL
HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDH
ELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQISARFPHRSADVTTSPYADT
QNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPSTRLITEPPQATLWSPSMVCGMTTPPT
SPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPATSPPPAPLCHSDDYVHISLPQATVTPPR
KEERMDSARPCLHRQHHLLNDRGSEEPPGSKGSVTLSDLPGFLGDLASEEDSIEKDKEEA
AISRELSEITTAEAEPVVPRGGFDSPFYRDSLPGSQRKTHSAASSSQGASVNPEPLHSSL
DKLGPDTPKQAFTPIDLPCGSADESPAGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQ
PPPYDHLFEVALPKTAHHFVIRKTEELLKKAKGNTEEDGVPSTSPMEVLDRLIQQGADAH
SKELNKLPLPSKSVDWTHFGGSPPSDEIRTLRDQLLLLHNQLLYERFKRQQHALRNRRLL
RKVIKAAALEEHNAAMKDQLKLQEKDIQMWKVSLQKEQARYNQLQEQRDTMVTKLHSQIR
QLQHDREEFYNQSQELQTKLEDCRNMIAELRIELKKANNKVCHTELLLSQVSQKLSNSES
VQQQMEFLNRQLLVLGEVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQ
RLDTSQKRILELESHLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFEL
EILDLYGRLEKDGLLKKLEEEKAEAAEAAEERLDCCNDGCSDSMVGHNEEASGHNGETKT
PRPSSARGSSGSRGGGGSSSSSSELSTPEKPPHQRAGPFSSRWETTMGEASASIPTTVGS
LPSSKSFLGMKARELFRNKSESQCDEDGMTSSLSESLKTELGKDLGVEAKIPLNLDGPHP
SPPTPDSVGQLHIMDYNETHHEHS

Sequence length

1164

Interactions

View interactions

	KEGG		Reactome
	Phospholipase D signaling pathway Autophagy - animal mTOR signaling pathway PI3K-Akt signaling pathway AMPK signaling pathway Longevity regulating pathway Cellular senescence Thermogenesis Insulin signaling pathway Human cytomegalovirus infection Human papillomavirus infection Herpes simplex virus 1 infection Choline metabolism in cancer		Macroautophagy Inhibition of TSC complex formation by PKB Energy dependent regulation of mTOR by LKB1-AMPK TP53 Regulates Metabolic Genes TBC/RABGAPs

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Isolated focal cortical dysplasia	Isolated focal cortical dysplasia type II	rs118203645, rs118203628, rs1064794132	N/A
lymphangiomyomatosis	Lymphangiomyomatosis	rs118203707, rs118203537, rs397514780, rs1588309702, rs118203388	N/A
Tuberous Sclerosis	Tuberous sclerosis syndrome, Tuberous sclerosis 1	rs397514788, rs1564504869, rs118203396, rs118203673, rs118203463, rs118203620, rs1554821022, rs118203390, rs397514865, rs281875358, rs118203549, rs397514879, rs118203724, rs1845932297, rs118203582 View all (239 more)	N/A

Show/Hide Unknown Diseases (8)

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.
acute myeloid leukemia	Acute myeloid leukemia	N/A	N/A	ClinVar
Acute Myeloid Leukemia	Acute myeloid leukemia	Reduced expression levels of LZTR1, NF1, TSC1, and TSC2 correlate with reduced sensitivity to sorafenib in samples from patients with acute myeloid leukemia and deficiency results in hyperactivation of MAPK or MTOR pathways in acute myeloid leukemia cells	33375770	CBGDA
autism spectrum disorder	Autism spectrum disorder	N/A	N/A	ClinVar
Breast Cancer	Malignant tumor of breast	N/A	N/A	ClinVar
Neuroblastoma	neuroblastoma	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Psoriasis	Psoriasis	N/A	N/A	GWAS
seizure	Seizure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (137)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abdominal Neoplasms	Associate	23867796
Adenocarcinoma	Associate	11696455, 18413730, 24593867, 28302097, 36239337
Adenocarcinoma of Lung	Associate	11696455
Adrenocortical Carcinoma	Associate	33626208
Alzheimer Disease	Associate	37440991
Angina Stable	Associate	30220708
Angiofibroma	Associate	11112665, 37141891
Angiofibroma	Inhibit	32461669
Angiomyolipoma	Associate	18547304, 19133941, 20498439, 25476905, 27494029, 27640314, 29764404, 30285856, 31586081, 31927531
Astrocytoma	Associate	20133820, 27625244, 32461669, 33051600
Ataxia	Associate	34130600
Autism Spectrum Disorder	Associate	21403110, 22558107, 30705255, 31591157, 31921404, 37880800
Autistic Disorder	Associate	21345208, 22558107, 23205844, 25160545
Barrett Esophagus	Associate	18413730
Beta ketothiolase deficiency	Associate	23851963
Blindness	Associate	30220708
Brain Diseases	Associate	27406250, 34130600
Brain Neoplasms	Associate	37423059
Breast Neoplasms	Inhibit	20658316, 26167915
Breast Neoplasms	Associate	20658316, 22562547, 28027327, 31704974, 36539038
Capillary Malformation Arteriovenous Malformation	Associate	19912235
Carcinogenesis	Associate	18413730
Carcinoma Adenoid Cystic	Associate	23778141
Carcinoma Ductal	Associate	20658316
Carcinoma Hepatocellular	Associate	25526364, 30373752, 37769223
Carcinoma Merkel Cell	Associate	36602798
Carcinoma Non Small Cell Lung	Associate	24593867, 30842342, 36239337
Carcinoma Renal Cell	Associate	24821879, 28626070, 29941307, 29975249, 30303819, 31975504, 37964489
Carcinoma Squamous Cell	Associate	24593867
Carcinoma Transitional Cell	Associate	18397877
Central Nervous System Infections	Associate	31921404
Central Nervous System Vascular Malformations	Associate	32502382
Cholangiocarcinoma	Associate	24563076
Chordoma	Associate	19401700, 21266383
Clear cell metastatic renal cell carcinoma	Associate	26831717, 31389395, 39366934
Colonic Neoplasms	Associate	35572821
Colorectal Neoplasms	Associate	20622004, 22363125, 34315829
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19893037
Craniocerebral Trauma	Associate	11112665
Cysts	Associate	27640314, 36142537
Cysts	Inhibit	32461669
Cytomegalovirus Infections	Associate	18407068
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	27682873
Developmental Disabilities	Associate	32461669
Drug Resistant Epilepsy	Associate	32461669
Endometrial Hyperplasia	Associate	11696455
Ependymoma	Associate	18350576
Epilepsies Partial	Associate	30220708, 30911571
Epilepsy	Associate	23205844, 28892148, 30185235, 30911571, 31591157, 32313033, 34252879, 34417327, 35961105, 40665309
Esophageal Neoplasms	Associate	18413730
Fetal Diseases	Associate	34480426
Focal Cortical Dysplasia	Associate	19175396
Focal cortical dysplasia of Taylor	Associate	18368626, 35961105
Fractures Spontaneous	Associate	27406250
Frontotemporal Dementia	Associate	34130600, 36469115
Gastrointestinal Stromal Tumors	Associate	33879132
Gaucher Disease	Associate	34130600
Genetic Diseases Inborn	Associate	24714658, 25476905, 29261847
Gerstmann Straussler Scheinker Disease	Associate	34130600
Glioma	Associate	18759130
Gliosis	Associate	18226172
Glycogen Storage Disease	Associate	34130600
Hamartoma	Associate	11468687, 11710839, 18292222, 28968464
Head and Neck Neoplasms	Associate	16412252
Hemimegalencephaly	Associate	31444548
Histiocytosis Langerhans Cell	Associate	35231481
Huntington Disease	Associate	34130600
Hypercalcemia	Associate	25889454
Hyperparathyroidism Primary	Associate	25889454
Hyperplasia	Associate	20526286, 30794603, 34730894
Hypophosphatemia	Associate	25889454
Hypoxia Brain	Associate	26762835
Inflammation	Associate	18413730
Insulin Resistance	Associate	15380067
Intellectual Disability	Associate	11112665, 25160545, 31005478, 31591157, 32313033, 37880800
Intestinal Atresia Multiple	Associate	40624119
Keratoconus	Associate	29261847, 37990318
Kidney Diseases	Associate	11112665
Kidney Neoplasms	Associate	23038766
Leukemia Myeloid Acute	Associate	20498439, 25476905, 40377620
Leukoencephalopathies	Associate	30581017
Lip Hamartomatous	Stimulate	22301052
Liver Neoplasms	Associate	28302097
Lung Diseases	Associate	19596836, 27871249
Lymphangioleiomyomatosis	Associate	16424383, 16474096, 16575396, 19133941, 19155472, 19596836, 19893037, 20630348, 20639436, 21036916, 21128782, 23555865, 23867796, 24051985, 25411763 View all (11 more)
Lymphoma Non Hodgkin	Associate	38460672
Macules hereditary congenital hypopigmented and hyperpigmented	Inhibit	32461669
Malnutrition	Associate	35458174
Megalencephaly	Associate	28892148
Melanoma	Associate	28302097
Mental Disorders	Associate	29196670, 36232477
Multiple Myeloma	Inhibit	30396185
Muscular dystrophy congenital with central nervous system involvement	Associate	32313033
Myopia	Associate	36719021
Neoplasm Metastasis	Associate	25009010
Neoplasm Metastasis	Inhibit	26167915
Neoplasms	Inhibit	11696455, 12867426, 12906785, 15380067, 15728574, 16424383, 18538015, 19349254, 20671064, 21036916, 21128782, 22301052, 23341583, 24051985, 24271014 View all (6 more)
Neoplasms	Associate	15662135, 16412252, 18397877, 20884743, 23778141, 24345884, 24714658, 25009010, 25476905, 25526364, 25727005, 26655088, 27270441, 27682873, 27871249 View all (21 more)
Neoplastic Syndromes Hereditary	Associate	27682873
Nerve Degeneration	Associate	20498439
Nervous System Diseases	Associate	22791573
Neurodevelopmental Disorders	Associate	31921404
Neuronal Ceroid Lipofuscinoses	Associate	34130600
Niemann Pick Disease Type A	Associate	34130600
Obesity	Associate	28445147
Ovarian Neoplasms	Associate	33560870
Pancreatic Neoplasms	Associate	31160355, 36261830, 38203311
Parkinson Disease	Associate	34130600
Perivascular Epithelioid Cell Neoplasms	Associate	20048174, 27871249, 33180365, 36367123, 37041531
Pigmentation Disorders	Associate	27918305
Pleural Effusion Malignant	Associate	20884743
Pneumothorax	Associate	27229674
Precancerous Conditions	Associate	27682873
Prostatic Neoplasms	Associate	32264916
Rectal Neoplasms	Associate	20622004
Respiratory Tract Infections	Associate	33727259
Retinitis	Associate	11112665
Retinoblastoma	Associate	39451177
Rhabdomyoma	Associate	10340649, 29877000, 34480426
Seizures	Associate	11112665, 19133941, 32461669, 9989450
Small Cell Lung Carcinoma	Associate	24593867, 24978188
Spasms Infantile	Associate	18801034, 36279597
Squamous Cell Carcinoma of Head and Neck	Associate	18538015
Stomach Neoplasms	Associate	12174360, 27156070
Sweat Gland Neoplasms	Associate	33515627
Tauopathies	Associate	36469115
Thymoma	Associate	37703595
Thyroid Nodule	Associate	31525612
Tourette Syndrome	Associate	28978585
Tuberous Sclerosis	Associate	10090883, 10227394, 10340649, 11068191, 11112665, 11468687, 11710839, 12271141, 12582162, 1427899, 15150271, 15340059, 15380067, 16192644, 16624901 View all (121 more)
Tuberous Sclerosis	Inhibit	12867426, 12906785, 18368626, 20498439, 27918305, 31834371
Tuberous Sclerosis 1	Associate	10227394, 18397877
Tuberous Sclerosis 1	Inhibit	22301052
Tuberous Sclerosis 2	Inhibit	33180365
Urethral Neoplasms	Associate	21533174, 32767682
Urinary Bladder Neoplasms	Associate	18397877, 22923433, 27270441, 31393349
Xanthogranuloma Juvenile	Associate	32532290

TSC1 (TSC complex subunit 1)