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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	26278
Gene name Gene Name - the full gene name approved by the HGNC.	Sacsin molecular chaperone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SACS
Synonyms (NCBI Gene) Gene synonyms aliases	ARSACS, DNAJC29, PPP1R138, SPAX6
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q12.12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34382952	T>G	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs34928783	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs41283958	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs61729954	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs61754478	A>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs111540787	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs111920492	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs116907814	A>C	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137853016	C>G	Pathogenic	Missense variant, coding sequence variant
rs137853017	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853018	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853019	A>G	Pathogenic	Missense variant, coding sequence variant
rs138457742	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139517699	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139805032	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs139993038	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140034972	A>C,G,T	Uncertain-significance, likely-pathogenic, benign-likely-benign	Stop gained, synonymous variant, coding sequence variant
rs140507581	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs140551762	G>C,T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141315518	G>A,C,T	Likely-pathogenic, likely-benign	Stop gained, missense variant, coding sequence variant, synonymous variant
rs142037771	A>C,G	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs142967124	C>A,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs143386746	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144179865	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144267558	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs144303334	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145766983	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs146154135	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146451611	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146722795	G>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs146852400	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147099630	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs147506904	T>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148297332	G>A	Pathogenic	Stop gained, coding sequence variant
rs148878361	T>C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs150981983	T>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs192610957	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200517685	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201690040	G>A,C	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs201857647	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs202199411	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs281865117	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs281865118	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs281865120	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs374128662	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs376376974	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs527513599	G>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs537408260	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs550680855	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs557113294	T>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs565203731	G>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs606231163	->G	Pathogenic	Frameshift variant, coding sequence variant
rs727503785	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs745907077	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs745961541	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs747676277	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs747868017	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs751568153	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs752059006	G>A,C	Uncertain-significance, likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs753012964	AAGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs753205260	GATT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs753277514	G>A,T	Likely-pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs753958013	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs754439135	TTT>-,TT,TTTT	Uncertain-significance, pathogenic	Inframe deletion, frameshift variant, coding sequence variant
rs755186798	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs756597098	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs757872635	GCCA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs758572409	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs759166250	TAAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs761089024	G>A	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs762947018	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs764585158	T>A,C,G	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs765992922	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs766457071	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs766711286	G>A	Pathogenic	Stop gained, coding sequence variant
rs767435985	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs767871841	T>-,TT	Pathogenic, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs770490672	A>T	Pathogenic	Stop gained, coding sequence variant
rs770866403	T>-,TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs771943685	T>C	Likely-pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs772704931	TT>-,TTT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs773182375	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs773588375	A>G	Affects	Missense variant, coding sequence variant
rs774906736	G>A	Pathogenic	Coding sequence variant, stop gained
rs775059063	AT>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs775206528	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs778572943	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs779338945	GAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs780184251	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs780197970	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs780247476	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs786204416	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786204628	CTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786204750	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs797044608	->TG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs797045936	->T	Pathogenic	Coding sequence variant, frameshift variant
rs797045937	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045938	GC>AG	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs863224916	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs867249938	A>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs876657720	->T	Pathogenic	Coding sequence variant, frameshift variant
rs876657721	AA>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs886041813	G>C	Pathogenic	Coding sequence variant, stop gained
rs886041949	A>T	Pathogenic	Coding sequence variant, stop gained
rs911764681	C>A,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs923921184	G>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs959856535	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs994374354	G>C	Likely-pathogenic, pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs1006060877	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1028098148	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516222	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516224	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516285	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516294	TGCATTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516295	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516347	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516365	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516398	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516406	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516438	TTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516464	GTCTTTTAGAGTAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516543	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516551	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516554	T>C	Likely-pathogenic	Splice acceptor variant
rs1057516578	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1057516580	GTCA>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516624	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516625	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516635	GAACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516689	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516767	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516773	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516779	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516820	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516829	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516837	G>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1057516853	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516856	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516875	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516930	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516932	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516959	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516987	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517002	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1057517014	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1057517020	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517034	->CA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517039	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517060	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517099	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517123	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517138	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517172	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517212	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517222	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517232	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517242	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517250	A>C	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1057517285	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517294	CTTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517297	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517301	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517305	->AC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517311	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057517349	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517366	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517383	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517437	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517451	TTGGGACTGCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060499656	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1060503431	ACAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796097	ATTCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1085307587	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1156566314	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1160357920	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1167474602	TT>-,TTT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1175545518	G>A	Pathogenic	Stop gained, coding sequence variant
rs1181477970	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1188844823	TA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1213203489	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1214399996	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs1240368715	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1259615333	GTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1279988199	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1326359185	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1360298758	T>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1365858851	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1372213267	CT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1400601705	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1408290451	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1417057515	A>G	Likely-pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs1440541889	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1459899547	A>C,T	Likely-pathogenic	Stop gained, coding sequence variant
rs1485209013	G>A	Pathogenic	Coding sequence variant, stop gained
rs1485885260	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249106	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555249276	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555249326	->CTGAAATG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249338	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249371	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249425	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249460	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249479	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249555	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555249599	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249607	CAAGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249633	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555249648	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249662	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249695	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249745	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555249766	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555249789	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555249797	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249826	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249878	GTTTGAACAACTGGTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249881	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555249894	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249904	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555249966	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555249977	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250016	->TA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250022	->GATGAAATCT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250082	CT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555250160	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555250183	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250191	TTCTT>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555250255	CTTTT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250359	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555250383	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250395	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250508	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250557	AACA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250642	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250653	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250684	ATTAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250872	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250949	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555250987	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555250991	GAGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251007	GATA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251015	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555251151	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251241	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555251254	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251301	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251421	->CAGTGGTA	Likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs1555251428	CC>AAA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251514	->CAAT	Likely-pathogenic	Stop gained, coding sequence variant
rs1555251539	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251553	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555251615	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555251699	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251818	GTCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251822	AATC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555251840	AA>G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251853	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251905	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251935	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251944	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555251960	TTT>-,TTTT	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, inframe deletion
rs1555251963	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555251990	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252055	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252086	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252113	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252142	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252148	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252184	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252345	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555252349	CACA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252359	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252388	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252433	->TCCTCATGCA	Pathogenic	Stop gained, inframe insertion, coding sequence variant
rs1555252448	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252458	->CATTAAACATTAATGTT	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252465	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252518	AACTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252531	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252545	->CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252587	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252611	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252623	CTCCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252634	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252786	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252844	AAACA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252876	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252909	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252926	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252928	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252929	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555252944	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555252953	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555254256	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555254281	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555254439	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555254489	C>T	Likely-pathogenic	Splice acceptor variant
rs1555254734	C>T	Likely-pathogenic	Splice donor variant
rs1555255676	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1566054340	A>G	Pathogenic	Coding sequence variant, missense variant
rs1566055368	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1566058677	G>-	Pathogenic	Stop gained, coding sequence variant
rs1566059895	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1566069517	C>A	Pathogenic	Coding sequence variant, missense variant
rs1566071225	T>C	Pathogenic	Coding sequence variant, missense variant
rs1593121484	G>A	Pathogenic	Stop gained, coding sequence variant
rs1593121507	ATACTGCTCAATAATCGAGGTCTA>T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1593121924	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593123432	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1593125290	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1593125341	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593126754	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1593129673	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593133306	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593133395	G>A	Pathogenic	Stop gained, coding sequence variant
rs1593133607	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593133714	T>A	Pathogenic	Stop gained, coding sequence variant
rs1593144167	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593144544	C>T	Pathogenic	Stop gained, coding sequence variant
rs1593144887	C>A	Pathogenic	Stop gained, coding sequence variant
rs1593145590	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1593147785	G>A	Pathogenic	Stop gained, coding sequence variant
rs1593157923	T>A	Pathogenic	Stop gained, coding sequence variant, intron variant

Show/Hide all(485)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027667	hsa-miR-98-5p	Microarray	19088304
MIRT029563	hsa-miR-26b-5p	Sequencing	20371350
MIRT042454	hsa-miR-424-5p	CLASH	23622248
MIRT036435	hsa-miR-1226-3p	CLASH	23622248
MIRT468813	hsa-miR-5684	HITS-CLIP	21572407
MIRT468812	hsa-miR-3159	HITS-CLIP	21572407
MIRT468811	hsa-miR-5697	HITS-CLIP	21572407
MIRT468810	hsa-miR-1297	HITS-CLIP	21572407
MIRT468809	hsa-miR-26a-5p	HITS-CLIP	21572407
MIRT029563	hsa-miR-26b-5p	HITS-CLIP	21572407
MIRT468808	hsa-miR-4465	HITS-CLIP	21572407
MIRT468813	hsa-miR-5684	PAR-CLIP	20371350
MIRT468812	hsa-miR-3159	PAR-CLIP	20371350
MIRT468811	hsa-miR-5697	PAR-CLIP	20371350
MIRT468810	hsa-miR-1297	PAR-CLIP	20371350
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT468808	hsa-miR-4465	PAR-CLIP	20371350
MIRT468813	hsa-miR-5684	PAR-CLIP	20371350
MIRT468812	hsa-miR-3159	PAR-CLIP	20371350
MIRT468811	hsa-miR-5697	PAR-CLIP	20371350
MIRT468810	hsa-miR-1297	PAR-CLIP	20371350
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT468808	hsa-miR-4465	PAR-CLIP	20371350
MIRT554506	hsa-miR-6512-5p	PAR-CLIP	20371350
MIRT468813	hsa-miR-5684	PAR-CLIP	20371350
MIRT468812	hsa-miR-3159	PAR-CLIP	20371350
MIRT468811	hsa-miR-5697	PAR-CLIP	20371350
MIRT565937	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT468810	hsa-miR-1297	PAR-CLIP	20371350
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT468808	hsa-miR-4465	PAR-CLIP	20371350
MIRT468813	hsa-miR-5684	PAR-CLIP	20371350
MIRT468812	hsa-miR-3159	PAR-CLIP	20371350
MIRT468811	hsa-miR-5697	PAR-CLIP	20371350
MIRT468810	hsa-miR-1297	PAR-CLIP	20371350
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT468808	hsa-miR-4465	PAR-CLIP	20371350
MIRT554506	hsa-miR-6512-5p	PAR-CLIP	21572407
MIRT468813	hsa-miR-5684	PAR-CLIP	21572407
MIRT468812	hsa-miR-3159	PAR-CLIP	21572407
MIRT468811	hsa-miR-5697	PAR-CLIP	21572407
MIRT534538	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT468810	hsa-miR-1297	PAR-CLIP	21572407
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT468808	hsa-miR-4465	PAR-CLIP	21572407
MIRT468813	hsa-miR-5684	PAR-CLIP	21572407
MIRT468812	hsa-miR-3159	PAR-CLIP	21572407
MIRT468811	hsa-miR-5697	PAR-CLIP	21572407
MIRT468810	hsa-miR-1297	PAR-CLIP	21572407
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT468808	hsa-miR-4465	PAR-CLIP	21572407
MIRT468813	hsa-miR-5684	PAR-CLIP	22012620
MIRT468812	hsa-miR-3159	PAR-CLIP	22012620
MIRT468811	hsa-miR-5697	PAR-CLIP	22012620
MIRT534538	hsa-miR-216b-3p	PAR-CLIP	22012620
MIRT468810	hsa-miR-1297	PAR-CLIP	22012620
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT468808	hsa-miR-4465	PAR-CLIP	22012620
MIRT468813	hsa-miR-5684	PAR-CLIP	23446348
MIRT468812	hsa-miR-3159	PAR-CLIP	23446348
MIRT468811	hsa-miR-5697	PAR-CLIP	23446348
MIRT468810	hsa-miR-1297	PAR-CLIP	23446348
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23446348
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23446348
MIRT468808	hsa-miR-4465	PAR-CLIP	23446348
MIRT468813	hsa-miR-5684	PAR-CLIP	23446348
MIRT468812	hsa-miR-3159	PAR-CLIP	23446348
MIRT468811	hsa-miR-5697	PAR-CLIP	23446348
MIRT468810	hsa-miR-1297	PAR-CLIP	23446348
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23446348
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23446348
MIRT468808	hsa-miR-4465	PAR-CLIP	23446348
MIRT468813	hsa-miR-5684	PAR-CLIP	23446348
MIRT468812	hsa-miR-3159	PAR-CLIP	23446348
MIRT468811	hsa-miR-5697	PAR-CLIP	23446348
MIRT468810	hsa-miR-1297	PAR-CLIP	23446348
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23446348
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23446348
MIRT468808	hsa-miR-4465	PAR-CLIP	23446348
MIRT468813	hsa-miR-5684	PAR-CLIP	23446348
MIRT468812	hsa-miR-3159	PAR-CLIP	23446348
MIRT468811	hsa-miR-5697	PAR-CLIP	23446348
MIRT468810	hsa-miR-1297	PAR-CLIP	23446348
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23446348
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23446348
MIRT468808	hsa-miR-4465	PAR-CLIP	23446348
MIRT468813	hsa-miR-5684	PAR-CLIP	23592263
MIRT468812	hsa-miR-3159	PAR-CLIP	23592263
MIRT468811	hsa-miR-5697	PAR-CLIP	23592263
MIRT468810	hsa-miR-1297	PAR-CLIP	23592263
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23592263
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23592263
MIRT468808	hsa-miR-4465	PAR-CLIP	23592263
MIRT439717	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439715	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439716	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439717	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726670	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726669	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726667	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726668	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439715	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439716	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT468809	hsa-miR-26a-5p	HITS-CLIP	22473208
MIRT029563	hsa-miR-26b-5p	HITS-CLIP	22473208
MIRT726666	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT726665	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT726664	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT726663	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT726662	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT468813	hsa-miR-5684	HITS-CLIP	21572407
MIRT468812	hsa-miR-3159	HITS-CLIP	21572407
MIRT468811	hsa-miR-5697	HITS-CLIP	21572407
MIRT468810	hsa-miR-1297	HITS-CLIP	21572407
MIRT468809	hsa-miR-26a-5p	HITS-CLIP	21572407
MIRT029563	hsa-miR-26b-5p	HITS-CLIP	21572407
MIRT468808	hsa-miR-4465	HITS-CLIP	21572407
MIRT468813	hsa-miR-5684	PAR-CLIP	20371350
MIRT468812	hsa-miR-3159	PAR-CLIP	20371350
MIRT468811	hsa-miR-5697	PAR-CLIP	20371350
MIRT468810	hsa-miR-1297	PAR-CLIP	20371350
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT468808	hsa-miR-4465	PAR-CLIP	20371350
MIRT468813	hsa-miR-5684	PAR-CLIP	20371350
MIRT468812	hsa-miR-3159	PAR-CLIP	20371350
MIRT468811	hsa-miR-5697	PAR-CLIP	20371350
MIRT468810	hsa-miR-1297	PAR-CLIP	20371350
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT468808	hsa-miR-4465	PAR-CLIP	20371350
MIRT554506	hsa-miR-6512-5p	PAR-CLIP	20371350
MIRT468813	hsa-miR-5684	PAR-CLIP	20371350
MIRT468812	hsa-miR-3159	PAR-CLIP	20371350
MIRT468811	hsa-miR-5697	PAR-CLIP	20371350
MIRT565937	hsa-miR-302a-5p	PAR-CLIP	20371350
MIRT468810	hsa-miR-1297	PAR-CLIP	20371350
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT468808	hsa-miR-4465	PAR-CLIP	20371350
MIRT468813	hsa-miR-5684	PAR-CLIP	20371350
MIRT468812	hsa-miR-3159	PAR-CLIP	20371350
MIRT468811	hsa-miR-5697	PAR-CLIP	20371350
MIRT468810	hsa-miR-1297	PAR-CLIP	20371350
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT468808	hsa-miR-4465	PAR-CLIP	20371350
MIRT554506	hsa-miR-6512-5p	PAR-CLIP	21572407
MIRT468813	hsa-miR-5684	PAR-CLIP	21572407
MIRT468812	hsa-miR-3159	PAR-CLIP	21572407
MIRT468811	hsa-miR-5697	PAR-CLIP	21572407
MIRT534538	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT468810	hsa-miR-1297	PAR-CLIP	21572407
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT468808	hsa-miR-4465	PAR-CLIP	21572407
MIRT468813	hsa-miR-5684	PAR-CLIP	21572407
MIRT468812	hsa-miR-3159	PAR-CLIP	21572407
MIRT468811	hsa-miR-5697	PAR-CLIP	21572407
MIRT468810	hsa-miR-1297	PAR-CLIP	21572407
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT468808	hsa-miR-4465	PAR-CLIP	21572407
MIRT468813	hsa-miR-5684	PAR-CLIP	22012620
MIRT468812	hsa-miR-3159	PAR-CLIP	22012620
MIRT468811	hsa-miR-5697	PAR-CLIP	22012620
MIRT534538	hsa-miR-216b-3p	PAR-CLIP	22012620
MIRT468810	hsa-miR-1297	PAR-CLIP	22012620
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT468808	hsa-miR-4465	PAR-CLIP	22012620
MIRT468813	hsa-miR-5684	PAR-CLIP	23446348
MIRT468812	hsa-miR-3159	PAR-CLIP	23446348
MIRT468811	hsa-miR-5697	PAR-CLIP	23446348
MIRT468810	hsa-miR-1297	PAR-CLIP	23446348
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23446348
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23446348
MIRT468808	hsa-miR-4465	PAR-CLIP	23446348
MIRT468813	hsa-miR-5684	PAR-CLIP	23446348
MIRT468812	hsa-miR-3159	PAR-CLIP	23446348
MIRT468811	hsa-miR-5697	PAR-CLIP	23446348
MIRT468810	hsa-miR-1297	PAR-CLIP	23446348
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23446348
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23446348
MIRT468808	hsa-miR-4465	PAR-CLIP	23446348
MIRT468813	hsa-miR-5684	PAR-CLIP	23446348
MIRT468812	hsa-miR-3159	PAR-CLIP	23446348
MIRT468811	hsa-miR-5697	PAR-CLIP	23446348
MIRT468810	hsa-miR-1297	PAR-CLIP	23446348
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23446348
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23446348
MIRT468808	hsa-miR-4465	PAR-CLIP	23446348
MIRT468813	hsa-miR-5684	PAR-CLIP	23446348
MIRT468812	hsa-miR-3159	PAR-CLIP	23446348
MIRT468811	hsa-miR-5697	PAR-CLIP	23446348
MIRT468810	hsa-miR-1297	PAR-CLIP	23446348
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23446348
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23446348
MIRT468808	hsa-miR-4465	PAR-CLIP	23446348
MIRT468813	hsa-miR-5684	PAR-CLIP	23592263
MIRT468812	hsa-miR-3159	PAR-CLIP	23592263
MIRT468811	hsa-miR-5697	PAR-CLIP	23592263
MIRT468810	hsa-miR-1297	PAR-CLIP	23592263
MIRT468809	hsa-miR-26a-5p	PAR-CLIP	23592263
MIRT029563	hsa-miR-26b-5p	PAR-CLIP	23592263
MIRT468808	hsa-miR-4465	PAR-CLIP	23592263
MIRT1324732	hsa-miR-103a	CLIP-seq
MIRT1324733	hsa-miR-106a	CLIP-seq
MIRT1324734	hsa-miR-106b	CLIP-seq
MIRT1324735	hsa-miR-107	CLIP-seq
MIRT1324736	hsa-miR-1184	CLIP-seq
MIRT1324737	hsa-miR-127-5p	CLIP-seq
MIRT1324738	hsa-miR-142-5p	CLIP-seq
MIRT1324739	hsa-miR-1468	CLIP-seq
MIRT1324740	hsa-miR-17	CLIP-seq
MIRT1324741	hsa-miR-181a	CLIP-seq
MIRT1324742	hsa-miR-181b	CLIP-seq
MIRT1324743	hsa-miR-181c	CLIP-seq
MIRT1324744	hsa-miR-181d	CLIP-seq
MIRT1324745	hsa-miR-182	CLIP-seq
MIRT1324746	hsa-miR-183	CLIP-seq
MIRT1324747	hsa-miR-20a	CLIP-seq
MIRT1324748	hsa-miR-20b	CLIP-seq
MIRT1324749	hsa-miR-221	CLIP-seq
MIRT1324750	hsa-miR-222	CLIP-seq
MIRT1324751	hsa-miR-2276	CLIP-seq
MIRT1324752	hsa-miR-3065-3p	CLIP-seq
MIRT1324753	hsa-miR-30a	CLIP-seq
MIRT1324754	hsa-miR-30b	CLIP-seq
MIRT1324755	hsa-miR-30c	CLIP-seq
MIRT1324756	hsa-miR-30d	CLIP-seq
MIRT1324757	hsa-miR-30e	CLIP-seq
MIRT1324758	hsa-miR-3120-3p	CLIP-seq
MIRT1324759	hsa-miR-3156-5p	CLIP-seq
MIRT1324760	hsa-miR-340	CLIP-seq
MIRT1324761	hsa-miR-3607-3p	CLIP-seq
MIRT1324762	hsa-miR-3609	CLIP-seq
MIRT1324763	hsa-miR-410	CLIP-seq
MIRT1324764	hsa-miR-4262	CLIP-seq
MIRT1324765	hsa-miR-4418	CLIP-seq
MIRT1324766	hsa-miR-4426	CLIP-seq
MIRT1324767	hsa-miR-4511	CLIP-seq
MIRT1324768	hsa-miR-4639-5p	CLIP-seq
MIRT1324769	hsa-miR-4647	CLIP-seq
MIRT1324770	hsa-miR-4662b	CLIP-seq
MIRT1324771	hsa-miR-4676-5p	CLIP-seq
MIRT1324772	hsa-miR-4712-5p	CLIP-seq
MIRT1324773	hsa-miR-4715-3p	CLIP-seq
MIRT1324774	hsa-miR-4729	CLIP-seq
MIRT1324775	hsa-miR-4772-3p	CLIP-seq
MIRT1324776	hsa-miR-4796-3p	CLIP-seq
MIRT1324777	hsa-miR-4803	CLIP-seq
MIRT1324778	hsa-miR-495	CLIP-seq
MIRT1324779	hsa-miR-509-3-5p	CLIP-seq
MIRT1324780	hsa-miR-509-5p	CLIP-seq
MIRT1324781	hsa-miR-517a	CLIP-seq
MIRT1324782	hsa-miR-517c	CLIP-seq
MIRT1324783	hsa-miR-519a	CLIP-seq
MIRT1324784	hsa-miR-519b-3p	CLIP-seq
MIRT1324785	hsa-miR-519c-3p	CLIP-seq
MIRT1324786	hsa-miR-519d	CLIP-seq
MIRT1324787	hsa-miR-544	CLIP-seq
MIRT1324788	hsa-miR-548ah	CLIP-seq
MIRT1324789	hsa-miR-548v	CLIP-seq
MIRT1324790	hsa-miR-575	CLIP-seq
MIRT1324791	hsa-miR-659	CLIP-seq
MIRT1324792	hsa-miR-671-5p	CLIP-seq
MIRT1324793	hsa-miR-770-5p	CLIP-seq
MIRT1324794	hsa-miR-9	CLIP-seq
MIRT1324795	hsa-miR-922	CLIP-seq
MIRT1324796	hsa-miR-93	CLIP-seq
MIRT1324732	hsa-miR-103a	CLIP-seq
MIRT1324735	hsa-miR-107	CLIP-seq
MIRT1324736	hsa-miR-1184	CLIP-seq
MIRT1324752	hsa-miR-3065-3p	CLIP-seq
MIRT1324765	hsa-miR-4418	CLIP-seq
MIRT1324779	hsa-miR-509-3-5p	CLIP-seq
MIRT1324780	hsa-miR-509-5p	CLIP-seq
MIRT1324792	hsa-miR-671-5p	CLIP-seq
MIRT1324732	hsa-miR-103a	CLIP-seq
MIRT1324735	hsa-miR-107	CLIP-seq
MIRT1324736	hsa-miR-1184	CLIP-seq
MIRT1324752	hsa-miR-3065-3p	CLIP-seq
MIRT1324765	hsa-miR-4418	CLIP-seq
MIRT1324779	hsa-miR-509-3-5p	CLIP-seq
MIRT1324780	hsa-miR-509-5p	CLIP-seq
MIRT1324732	hsa-miR-103a	CLIP-seq
MIRT1324735	hsa-miR-107	CLIP-seq
MIRT1324736	hsa-miR-1184	CLIP-seq
MIRT2096403	hsa-miR-1206	CLIP-seq
MIRT1324739	hsa-miR-1468	CLIP-seq
MIRT2096404	hsa-miR-1911	CLIP-seq
MIRT1324752	hsa-miR-3065-3p	CLIP-seq
MIRT1324753	hsa-miR-30a	CLIP-seq
MIRT1324754	hsa-miR-30b	CLIP-seq
MIRT1324755	hsa-miR-30c	CLIP-seq
MIRT1324756	hsa-miR-30d	CLIP-seq
MIRT1324757	hsa-miR-30e	CLIP-seq
MIRT2096405	hsa-miR-3129-3p	CLIP-seq
MIRT1324761	hsa-miR-3607-3p	CLIP-seq
MIRT1324763	hsa-miR-410	CLIP-seq
MIRT2096406	hsa-miR-4307	CLIP-seq
MIRT1324765	hsa-miR-4418	CLIP-seq
MIRT1324766	hsa-miR-4426	CLIP-seq
MIRT1324769	hsa-miR-4647	CLIP-seq
MIRT1324770	hsa-miR-4662b	CLIP-seq
MIRT1324771	hsa-miR-4676-5p	CLIP-seq
MIRT1324772	hsa-miR-4712-5p	CLIP-seq
MIRT1324773	hsa-miR-4715-3p	CLIP-seq
MIRT2096407	hsa-miR-4724-3p	CLIP-seq
MIRT1324774	hsa-miR-4729	CLIP-seq
MIRT2096408	hsa-miR-4760-5p	CLIP-seq
MIRT1324777	hsa-miR-4803	CLIP-seq
MIRT1324779	hsa-miR-509-3-5p	CLIP-seq
MIRT1324780	hsa-miR-509-5p	CLIP-seq
MIRT2096409	hsa-miR-548k	CLIP-seq
MIRT2096410	hsa-miR-548l	CLIP-seq
MIRT1324790	hsa-miR-575	CLIP-seq
MIRT2096411	hsa-miR-664	CLIP-seq
MIRT1324792	hsa-miR-671-5p	CLIP-seq
MIRT1324793	hsa-miR-770-5p	CLIP-seq
MIRT2096412	hsa-miR-935	CLIP-seq
MIRT2096413	hsa-miR-944	CLIP-seq
MIRT1324732	hsa-miR-103a	CLIP-seq
MIRT1324735	hsa-miR-107	CLIP-seq
MIRT1324736	hsa-miR-1184	CLIP-seq
MIRT1324738	hsa-miR-142-5p	CLIP-seq
MIRT1324739	hsa-miR-1468	CLIP-seq
MIRT1324741	hsa-miR-181a	CLIP-seq
MIRT1324742	hsa-miR-181b	CLIP-seq
MIRT1324743	hsa-miR-181c	CLIP-seq
MIRT1324744	hsa-miR-181d	CLIP-seq
MIRT2320608	hsa-miR-1825	CLIP-seq
MIRT2320609	hsa-miR-198	CLIP-seq
MIRT2320610	hsa-miR-199a-5p	CLIP-seq
MIRT2320611	hsa-miR-199b-5p	CLIP-seq
MIRT1324749	hsa-miR-221	CLIP-seq
MIRT1324750	hsa-miR-222	CLIP-seq
MIRT1324752	hsa-miR-3065-3p	CLIP-seq
MIRT2320612	hsa-miR-384	CLIP-seq
MIRT1324764	hsa-miR-4262	CLIP-seq
MIRT1324765	hsa-miR-4418	CLIP-seq
MIRT2096407	hsa-miR-4724-3p	CLIP-seq
MIRT1324779	hsa-miR-509-3-5p	CLIP-seq
MIRT1324780	hsa-miR-509-5p	CLIP-seq
MIRT1324781	hsa-miR-517a	CLIP-seq
MIRT1324782	hsa-miR-517c	CLIP-seq
MIRT1324789	hsa-miR-548v	CLIP-seq
MIRT1324732	hsa-miR-103a	CLIP-seq
MIRT1324735	hsa-miR-107	CLIP-seq
MIRT1324736	hsa-miR-1184	CLIP-seq
MIRT1324739	hsa-miR-1468	CLIP-seq
MIRT1324752	hsa-miR-3065-3p	CLIP-seq
MIRT1324765	hsa-miR-4418	CLIP-seq
MIRT1324773	hsa-miR-4715-3p	CLIP-seq
MIRT1324779	hsa-miR-509-3-5p	CLIP-seq
MIRT1324780	hsa-miR-509-5p	CLIP-seq
MIRT1324738	hsa-miR-142-5p	CLIP-seq
MIRT1324739	hsa-miR-1468	CLIP-seq
MIRT2432892	hsa-miR-153	CLIP-seq
MIRT1324763	hsa-miR-410	CLIP-seq
MIRT2432893	hsa-miR-448	CLIP-seq
MIRT1324774	hsa-miR-4729	CLIP-seq
MIRT2432894	hsa-miR-548a-5p	CLIP-seq
MIRT2432895	hsa-miR-548ab	CLIP-seq
MIRT2432896	hsa-miR-548ak	CLIP-seq
MIRT2432897	hsa-miR-548b-5p	CLIP-seq
MIRT2432898	hsa-miR-548c-5p	CLIP-seq
MIRT2432899	hsa-miR-548d-5p	CLIP-seq
MIRT2432900	hsa-miR-548h	CLIP-seq
MIRT2432901	hsa-miR-548i	CLIP-seq
MIRT2432902	hsa-miR-548j	CLIP-seq
MIRT2096409	hsa-miR-548k	CLIP-seq
MIRT2096410	hsa-miR-548l	CLIP-seq
MIRT2432903	hsa-miR-548w	CLIP-seq
MIRT2432904	hsa-miR-548y	CLIP-seq
MIRT2432905	hsa-miR-559	CLIP-seq
MIRT1324795	hsa-miR-922	CLIP-seq
MIRT2096413	hsa-miR-944	CLIP-seq
MIRT1324739	hsa-miR-1468	CLIP-seq
MIRT1324753	hsa-miR-30a	CLIP-seq
MIRT1324754	hsa-miR-30b	CLIP-seq
MIRT1324755	hsa-miR-30c	CLIP-seq
MIRT1324756	hsa-miR-30d	CLIP-seq
MIRT1324757	hsa-miR-30e	CLIP-seq
MIRT1324761	hsa-miR-3607-3p	CLIP-seq
MIRT1324773	hsa-miR-4715-3p	CLIP-seq
MIRT1324777	hsa-miR-4803	CLIP-seq
MIRT1324792	hsa-miR-671-5p	CLIP-seq
MIRT1324733	hsa-miR-106a	CLIP-seq
MIRT1324734	hsa-miR-106b	CLIP-seq
MIRT2616633	hsa-miR-1283	CLIP-seq
MIRT1324739	hsa-miR-1468	CLIP-seq
MIRT2616634	hsa-miR-148a	CLIP-seq
MIRT2616635	hsa-miR-148b	CLIP-seq
MIRT2616636	hsa-miR-152	CLIP-seq
MIRT1324740	hsa-miR-17	CLIP-seq
MIRT2616637	hsa-miR-19a	CLIP-seq
MIRT2616638	hsa-miR-19b	CLIP-seq
MIRT1324747	hsa-miR-20a	CLIP-seq
MIRT1324748	hsa-miR-20b	CLIP-seq
MIRT2616639	hsa-miR-23a	CLIP-seq
MIRT2616640	hsa-miR-23b	CLIP-seq
MIRT2616641	hsa-miR-23c	CLIP-seq
MIRT1324753	hsa-miR-30a	CLIP-seq
MIRT1324754	hsa-miR-30b	CLIP-seq
MIRT1324755	hsa-miR-30c	CLIP-seq
MIRT1324756	hsa-miR-30d	CLIP-seq
MIRT1324757	hsa-miR-30e	CLIP-seq
MIRT2616642	hsa-miR-3163	CLIP-seq
MIRT1324761	hsa-miR-3607-3p	CLIP-seq
MIRT1324762	hsa-miR-3609	CLIP-seq
MIRT2616643	hsa-miR-3662	CLIP-seq
MIRT2616644	hsa-miR-3689d	CLIP-seq
MIRT2616645	hsa-miR-3938	CLIP-seq
MIRT2616646	hsa-miR-3942-5p	CLIP-seq
MIRT1324763	hsa-miR-410	CLIP-seq
MIRT2616647	hsa-miR-4282	CLIP-seq
MIRT1324766	hsa-miR-4426	CLIP-seq
MIRT2616648	hsa-miR-4491	CLIP-seq
MIRT2616649	hsa-miR-4495	CLIP-seq
MIRT1324769	hsa-miR-4647	CLIP-seq
MIRT2616650	hsa-miR-4657	CLIP-seq
MIRT1324770	hsa-miR-4662b	CLIP-seq
MIRT2616651	hsa-miR-4666-5p	CLIP-seq
MIRT2616652	hsa-miR-4703-5p	CLIP-seq
MIRT1324773	hsa-miR-4715-3p	CLIP-seq
MIRT1324776	hsa-miR-4796-3p	CLIP-seq
MIRT1324777	hsa-miR-4803	CLIP-seq
MIRT1324783	hsa-miR-519a	CLIP-seq
MIRT1324784	hsa-miR-519b-3p	CLIP-seq
MIRT1324785	hsa-miR-519c-3p	CLIP-seq
MIRT1324786	hsa-miR-519d	CLIP-seq
MIRT2616653	hsa-miR-520d-5p	CLIP-seq
MIRT2616654	hsa-miR-524-5p	CLIP-seq
MIRT2616655	hsa-miR-543	CLIP-seq
MIRT1324788	hsa-miR-548ah	CLIP-seq
MIRT1324792	hsa-miR-671-5p	CLIP-seq
MIRT1324795	hsa-miR-922	CLIP-seq
MIRT1324796	hsa-miR-93	CLIP-seq
MIRT1324733	hsa-miR-106a	CLIP-seq
MIRT1324734	hsa-miR-106b	CLIP-seq
MIRT2616633	hsa-miR-1283	CLIP-seq
MIRT1324739	hsa-miR-1468	CLIP-seq
MIRT1324740	hsa-miR-17	CLIP-seq
MIRT1324747	hsa-miR-20a	CLIP-seq
MIRT1324748	hsa-miR-20b	CLIP-seq
MIRT2616639	hsa-miR-23a	CLIP-seq
MIRT2616640	hsa-miR-23b	CLIP-seq
MIRT2616641	hsa-miR-23c	CLIP-seq
MIRT1324753	hsa-miR-30a	CLIP-seq
MIRT1324754	hsa-miR-30b	CLIP-seq
MIRT1324755	hsa-miR-30c	CLIP-seq
MIRT1324756	hsa-miR-30d	CLIP-seq
MIRT1324757	hsa-miR-30e	CLIP-seq
MIRT1324761	hsa-miR-3607-3p	CLIP-seq
MIRT1324762	hsa-miR-3609	CLIP-seq
MIRT2616643	hsa-miR-3662	CLIP-seq
MIRT1324763	hsa-miR-410	CLIP-seq
MIRT2616647	hsa-miR-4282	CLIP-seq
MIRT1324766	hsa-miR-4426	CLIP-seq
MIRT2616649	hsa-miR-4495	CLIP-seq
MIRT1324769	hsa-miR-4647	CLIP-seq
MIRT1324770	hsa-miR-4662b	CLIP-seq
MIRT2616651	hsa-miR-4666-5p	CLIP-seq
MIRT1324773	hsa-miR-4715-3p	CLIP-seq
MIRT1324776	hsa-miR-4796-3p	CLIP-seq
MIRT1324777	hsa-miR-4803	CLIP-seq
MIRT1324783	hsa-miR-519a	CLIP-seq
MIRT1324784	hsa-miR-519b-3p	CLIP-seq
MIRT1324785	hsa-miR-519c-3p	CLIP-seq
MIRT1324786	hsa-miR-519d	CLIP-seq
MIRT2616653	hsa-miR-520d-5p	CLIP-seq
MIRT2616654	hsa-miR-524-5p	CLIP-seq
MIRT1324788	hsa-miR-548ah	CLIP-seq
MIRT1324792	hsa-miR-671-5p	CLIP-seq
MIRT1324795	hsa-miR-922	CLIP-seq
MIRT1324796	hsa-miR-93	CLIP-seq

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IDA	19208651
GO:0005737	Component	Cytoplasm	IDA	19208651
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	19208651
GO:0006457	Process	Protein folding	NAS	10655055
GO:0030424	Component	Axon	TAS	19208651
GO:0030425	Component	Dendrite	TAS	19208651
GO:0030544	Function	Hsp70 protein binding	IBA
GO:0030544	Function	Hsp70 protein binding	IPI	19208651
GO:0042802	Function	Identical protein binding	IPI	21507954
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IDA	15082773
GO:0051087	Function	Protein-folding chaperone binding	IDA	19208651
GO:0070628	Function	Proteasome binding	IPI	19208651
GO:0070852	Component	Cell body fiber	TAS	19208651
GO:0090084	Process	Negative regulation of inclusion body assembly	IMP	19208651

MIM	HGNC	e!Ensembl
604490	10519	ENSG00000151835

Protein

UniProt ID

Q9NZJ4

Protein name

Sacsin (DnaJ homolog subfamily C member 29)

Protein function

Co-chaperone which acts as a regulator of the Hsp70 chaperone machinery and may be involved in the processing of other ataxia-linked proteins.

PDB

1IUR , 3O10 , 5V44 , 5V45 , 5V46 , 5VSX , 5VSZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00240	ubiquitin	20 → 79	Ubiquitin family	Domain
PF05168	HEPN	4447 → 4574	HEPN domain	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.

Sequence

METKENRWVPVTVLPGCVGCRTVAALASWTVRDVKERIFAETGFPVSEQRLWRGGRELSD
WIKIGDLTSKNCHLFVNLQSKGLKGGGRFGQTTPPLVDFLKDILRRYPEGGQILKELIQN
AEDAGATEVKFLYDETQYGTETLWSKDMAPYQGPALYVYNNAVFTPEDWHGIQEIARSRK
KDDPLKVGRFGIGFNSVYHITDVPCIFSGDQIGMLDPHQTLFGPHESGQCWNLKDDSKEI
SELSDQFAPFVGIFGSTKETFINGNFPGTFFRFPLRLQPSQLSSNLYNKQKVLELFESFR
ADADTVLLFLKSVQDVSLYVREADGTEKLVFRVTSSESKALKHERPNSIKILGTAISNYC
KKTPSNNITCVTYHVNIVLEEESTKDAQKTSWLVCNSVGGRGISSKLDSLADELKFVPII
GIAMPLSSRDDEAKGATSDFSGKAFCFLPLPPGEESSTGLPVHISGFFGLTDNRRSIKWR
ELDQWRDPAALWNEFLVMNVVPKAYATLILDSIKRLEMEKSSDFPLSVDVIYKLWPEASK
VKVHWQPVLEPLFSELLQNAVIYSISCDWVRLEQVYFSELDENLEYTKTVLNYLQSSGKQ
IAKVPGNVDAAVQLTAASGTTPVRKVTPAWVRQVLRKCAHLGCAEEKLHLLEFVLSDQAY
SELLGLELLPLQNGNFVPFSSSVSDQDVIYITSAEYPRSLFPSLEGRFILDNLKPHLVAA
LKEAAQTRGRPCTQLQLLNPERFARLIKEVMNTFWPGRELIVQWYPFDENRNHPSVSWLK
MVWKNLYIHFSEDLTLFDEMPLIPRTILEEGQTCVELIRLRIPSLVILDDESEAQLPEFL
ADIVQKLGGFVLKKLDASIQHPLIKKYIHSPLPSAVLQIMEKMPLQKLCNQITSLLPTHK
DALRKFLASLTDSSEKEKRIIQELAIFKRINHSSDQGISSYTKLKGCKVLHHTAKLPADL
RLSISVIDSSDEATIRLANMLKIEQLKTTSCLKLVLKDIENAFYSHEEVTQLMLWVLENL
SSLKNENPNVLEWLTPLKFIQISQEQMVSAGELFDPDIEVLKDLFCNEEGTYFPPSVFTS
PDILHSLRQIGLKNEASLKEKDVVQVAKKIEALQVGACPDQDVLLKKAKTLLLVLNKNHT
LLQSSEGKMTLKKIKWVPACKERPPNYPGSLVWKGDLCNLCAPPDMCDVGHAILIGSSLP
LVESIHVNLEKALGIFTKPSLSAVLKHFKIVVDWYSSKTFSDEDYYQFQHILLEIYGFMH
DHLNEGKDSFRALKFPWVWTGKKFCPLAQAVIKPIHDLDLQPYLHNVPKTMAKFHQLFKV
CGSIEELTSDHISMVIQKIYLKSDQDLSEQESKQNLHLMLNIIRWLYSNQIPASPNTPVP
IHHSKNPSKLIMKPIHECCYCDIKVDDLNDLLEDSVEPIILVHEDIPMKTAEWLKVPCLS
TRLINPENMGFEQSGQREPLTVRIKNILEEYPSVSDIFKELLQNADDANATECSFLIDMR
RNMDIRENLLDPGMAACHGPALWSFNNSQFSDSDFVNITRLGESLKRGEVDKVGKFGLGF
NSVYHITDIPIIMSREFMIMFDPNINHISKHIKDKSNPGIKINWSKQQKRLRKFPNQFKP
FIDVFGCQLPLTVEAPYSYNGTLFRLSFRTQQEAKVSEVSSTCYNTADIYSLVDEFSLCG
HRLIIFTQSVKSMYLKYLKIEETNPSLAQDTVIIKKKSCSSKALNTPVLSVLKEAAKLMK
TCSSSNKKLPSDEPKSSCILQITVEEFHHVFRRIADLQSPLFRGPDDDPAALFEMAKSGQ
SKKPSDELSQKTVECTTWLLCTCMDTGEALKFSLSESGRRLGLVPCGAVGVQLSEIQDQK
WTVKPHIGEVFCYLPLRIKTGLPVHINGCFAVTSNRKEIWKTDTKGRWNTTFMRHVIVKA
YLQVLSVLRDLATSGELMDYTYYAVWPDPDLVHDDFSVICQGFYEDIAHGKGKELTKVFS
DGSTWVSMKNVRFLDDSILKRRDVGSAAFKIFLKYLKKTGSKNLCAVELPSSVKLGFEEA
GCKQILLENTFSEKQFFSEVFFPNIQEIEAELRDPLMIFVLNEKVDEFSGVLRVTPCIPC
SLEGHPLVLPSRLIHPEGRVAKLFDIKDGRFPYGSTQDYLNPIILIKLVQLGMAKDDILW
DDMLERAVSVAEINKSDHVAACLRSSILLSLIDEKLKIRDPRAKDFAAKYQTIRFLPFLT
KPAGFSLDWKGNSFKPETMFAATDLYTAEHQDIVCLLQPILNENSHSFRGCGSVSLAVKE
FLGLLKKPTVDLVINQLKEVAKSVDDGITLYQENITNACYKYLHEALMQNEITKMSIIDK
LKPFSFILVENAYVDSEKVSFHLNFEAAPYLYQLPNKYKNNFRELFETVGVRQSCTVEDF
ALVLESIDQERGTKQITEENFQLCRRIISEGIWSLIREKKQEFCEKNYGKILLPDTNLML
LPAKSLCYNDCPWIKVKDTTVKYCHADIPREVAVKLGAVPKRHKALERYASNVCFTTLGT
EFGQKEKLTSRIKSILNAYPSEKEMLKELLQNADDAKATEICFVFDPRQHPVDRIFDDKW
APLQGPALCVYNNQPFTEDDVRGIQNLGKGTKEGNPYKTGQYGIGFNSVYHITDCPSFIS
GNDILCIFDPHARYAPGATSISPGRMFRDLDADFRTQFSDVLDLYLGTHFKLDNCTMFRF
PLRNAEMAKVSEISSVPASDRMVQNLLDKLRSDGAELLMFLNHMEKISICEIDKSTGALN
VLYSVKGKITDGDRLKRKQFHASVIDSVTKKRQLKDIPVQQITYTMDTEDSEGNLTTWLI
CNRSGFSSMEKVSKSVISAHKNQDITLFPRGGVAACITHNYKKPHRAFCFLPLSLETGLP
FHVNGHFALDSARRNLWRDDNGVGVRSDWNNSLMTALIAPAYVELLIQLKKRYFPGSDPT
LSVLQNTPIHVVKDTLKKFLSFFPVNRLDLQPDLYCLVKALYNCIHEDMKRLLPVVRAPN
IDGSDLHSAVIITWINMSTSNKTRPFFDNLLQDELQHLKNADYNITTRKTVAENVYRLKH
LLLEIGFNLVYNCDETANLYHCLIDADIPVSYVTPADIRSFLMTFSSPDTNCHIGKLPCR
LQQTNLKLFHSLKLLVDYCFKDAEENEIEVEGLPLLITLDSVLQTFDAKRPKFLTTYHEL
IPSRKDLFMNTLYLKYSNILLNCKVAKVFDISSFADLLSSVLPREYKTKSCTKWKDNFAS
ESWLKNAWHFISESVSVKEDQEETKPTFDIVVDTLKDWALLPGTKFTVSANQLVVPEGDV
LLPLSLMHIAVFPNAQSDKVFHALMKAGCIQLALNKICSKDSAFVPLLSCHTANIESPTS
ILKALHYMVQTSTFRAEKLVENDFEALLMYFNCNLNHLMSQDDIKILKSLPCYKSISGRY
VSIGKFGTCYVLTKSIPSAEVEKWTQSSSSAFLEEKIHLKELYEVIGCVPVDDLEVYLKH
LLPKIENLSYDAKLEHLIYLKNRLSSAEELSEIKEQLFEKLESLLIIHDANSRLKQAKHF
YDRTVRVFEVMLPEKLFIPNDFFKKLEQLIKPKNHVTFMTSWVEFLRNIGLKYILSQQQL
LQFAKEISVRANTENWSKETLQNTVDILLHHIFQERMDLLSGNFLKELSLIPFLCPERAP
AEFIRFHPQYQEVNGTLPLIKFNGAQVNPKFKQCDVLQLLWTSCPILPEKATPLSIKEQE
GSDLGPQEQLEQVLNMLNVNLDPPLDKVINNCRNICNITTLDEEMVKTRAKVLRSIYEFL
SAEKREFRFQLRGVAFVMVEDGWKLLKPEEVVINLEYESDFKPYLYKLPLELGTFHQLFK
HLGTEDIISTKQYVEVLSRIFKNSEGKQLDPNEMRTVKRVVSGLFRSLQNDSVKVRSDLE
NVRDLALYLPSQDGRLVKSSILVFDDAPHYKSRIQGNIGVQMLVDLSQCYLGKDHGFHTK
LIMLFPQKLRPRLLSSILEEQLDEETPKVCQFGALCSLQGRLQLLLSSEQFITGLIRIMK
HENDNAFLANEEKAIRLCKALREGLKVSCFEKLQTTLRVKGFNPIPHSRSETFAFLKRFG
NAVILLYIQHSDSKDINFLLALAMTLKSATDNLISDTSYLIAMLGCNDIYRIGEKLDSLG
VKYDSSEPSKLELPMPGTPIPAEIHYTLLMDPMNVFYPGEYVGYLVDAEGGDIYGSYQPT
YTYAIIVQEVEREDADNSSFLGKIYQIDIGYSEYKIVSSLDLYKFSRPEESSQSRDSAPS
TPTSPTEFLTPGLRSIPPLFSGRESHKTSSKHQSPKKLKVNSLPEILKEVTSVVEQAWKL
PESERKKIIRRLYLKWHPDKNPENHDIANEVFKHLQNEINRLEKQAFLDQNADRASRRTF
STSASRFQSDKYSFQRFYTSWNQEATSHKSERQQQNKEKCPPSAGQTYSQRFFVPPTFKS
VGNPVEARRWLRQARANFSAARNDLHKNANEWVCFKCYLSTKLALIAADYAVRGKSDKDV
KPTALAQKIEEYSQQLEGLTNDVHTLEAYGVDSLKTRYPDLLPFPQIPNDRFTSEVAMRV
MECTACIIIKLENFMQQKV

Sequence length

4579

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hereditary spastic paraplegia	Hereditary spastic paraplegia	rs281865118, rs754439135, rs761089024, rs1555251699, rs1160357920, rs923921184, rs371019314, rs752059006, rs281865117	N/A
Spastic Ataxia	Charlevoix-Saguenay spastic ataxia, Autosomal recessive spastic ataxia	rs1057516554, rs1868872666, rs1593129673, rs759166250, rs1214399996, rs1555251615, rs1440541889, rs1555249904, rs1883405453, rs1028098148, rs886041949, rs1555252113, rs1057516820, rs281865120, rs1555252545 View all (250 more)	N/A
Spastic Paraplegia	spastic paraplegia	rs1400601705, rs1057517002, rs780247476, rs1555252086, rs1593157923, rs1057517311, rs1593125290, rs1057517039, rs1869006331, rs1593133395, rs281865118, rs759166250, rs1440541889, rs1555249904, rs1883566609 View all (110 more)	N/A
Charcot-Marie-Tooth Disease, X-Linked	Charcot-Marie-Tooth disease X-linked dominant 1	rs1555255676	N/A

Show/Hide Unknown Diseases (1)

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.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ataxia	Associate	18465152, 23497566, 24030952, 35326432
Autonomic Nervous System Diseases	Associate	22892508
Cardiomegaly	Associate	38261029
Cerebellar Ataxia	Associate	18465152, 23043354, 29482223, 32729297, 33746006, 34121011, 34663476
Cerebellar Diseases	Associate	32729297, 35326432
Cerebral Palsy	Associate	40243517
Charcot Marie Tooth Disease	Associate	36833258, 38549004
Constipation	Associate	22892508
Corpus callosum agenesis neuronopathy	Associate	18465152
Demyelinating Diseases	Associate	23598833, 38261029
Diabetic Foot	Associate	32729297
Epilepsy	Associate	23785480
Erectile Dysfunction	Associate	22892508
Heart Diseases	Associate	23280630
Intracranial Hypertension	Associate	36833258
Multiple Sclerosis	Associate	23239789
Nerve Degeneration	Associate	23598833
Neurodegenerative Diseases	Associate	21507954, 27288452, 31417125
Neurologic Manifestations	Associate	23598833
Nystagmus Pathologic	Associate	32729297
Spastic Ataxia	Associate	15322280, 32775015, 35326432
Spastic ataxia Charlevoix Saguenay type	Associate	21507954, 22892508, 23239789, 23280630, 23497566, 23598833, 23785480, 27288452, 28658401, 29945973, 30144656, 30384130, 31417125, 32466761, 32729297 View all (9 more)
Spastic Paraplegia Hereditary	Associate	39304850
Spinocerebellar Ataxias	Associate	32466761
Spinocerebellar Degenerations	Associate	23497566, 24030952, 35326432, 37510308, 39304850
Urinary Bladder Diseases	Associate	22892508
Urinary Bladder Neoplasms	Associate	30170380

SACS (sacsin molecular chaperone)