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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26278
Gene name	Sacsin molecular chaperone
Gene symbol	SACS
Synonyms (NCBI Gene)	ARSACSDNAJC29PPP1R138SPAX6
Chromosome	13
Chromosome location	13q12.12
Summary	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

485

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

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

5210

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic; Pathogenic	rs752059006	RCV000454220
Abnormal central motor function	Likely pathogenic; Pathogenic	rs2137636957, rs762475019, rs775059063	RCV001814320 RCV001814368 RCV001814081
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability	Pathogenic	rs886041949	RCV001544509
Autosomal recessive spastic ataxia	Likely pathogenic; Pathogenic	rs876657721, rs876657720, rs2542139382, rs1883571351	RCV000824756 RCV000214078 RCV004017968 RCV001195303
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs750732115	RCV005626399
Charcot-Marie-Tooth disease X-linked dominant 1	Pathogenic	rs1555255676	RCV002305528
Charlevoix-Saguenay spastic ataxia	Likely pathogenic; Pathogenic	rs750732115, rs1883571494, rs2137557859, rs2137561134, rs2137569225, rs2137569412, rs2137622518, rs1383333220, rs2137636957, rs2137580127, rs1213203489, rs1285760809, rs2137613912, rs2137561854, rs765361868 View all (511 more)	RCV001328754 RCV002790005 RCV005005912 RCV003399200 RCV002469390 RCV003469668 RCV005005920 RCV001849514 RCV001421039 RCV001421040 RCV001421041 RCV004764969 RCV001535819 RCV001542778 RCV001832778 RCV001588048 RCV004815600 RCV001729997 RCV001775261 RCV001775262 RCV001779520 RCV001784933 RCV001783708 RCV001783709 RCV001806843 RCV003470924 RCV001808018 RCV001843706 RCV001843707 RCV003470942 RCV004815647 RCV005006088 RCV003471066 RCV003471168 RCV003471072 RCV002272512 RCV002290791 RCV003471011 RCV003136371 RCV003136367 RCV005006303 RCV003485753 RCV005006133 RCV005607017 RCV003471188 RCV003475241 RCV004571648 RCV003471087 RCV003467200 RCV004567163 RCV002226971 RCV002238635 RCV002250908 RCV002251088 RCV002266460 RCV002281746 RCV002281768 RCV002283632 RCV002284304 RCV002288393 RCV002289230 RCV002306456 RCV002309552 RCV002309654 RCV002309741 RCV002309883 RCV002309947 RCV002307885 RCV002307933 RCV002307953 RCV002308007 RCV002308283 RCV002308366 RCV002309095 RCV002309096 RCV002309327 RCV002306868 RCV002306974 RCV002307218 RCV002307329 RCV000157061 RCV002310072 RCV002310272 RCV002310305 RCV002310335 RCV002310427 RCV002310490 RCV002471600 RCV000169272 RCV000169401 RCV000169220 RCV000168999 RCV000169603 RCV000169583 RCV000169208 RCV004817193 RCV003465925 RCV005010900 RCV003475510 RCV005011008 RCV003465980 RCV004572801 RCV003134495 RCV000005847 RCV000005848 RCV000005849 RCV000005850 RCV000005852 RCV000005853 RCV000005854 RCV000005855 RCV000005856 RCV000005857 RCV003465855 RCV000194514 RCV000192438 RCV000192515 RCV000194102 RCV005010854 RCV003465905 RCV004572665 RCV000218042 RCV002790004 RCV003133877 RCV003152887 RCV003226800 RCV003226801 RCV003227588 RCV000984212 RCV000411666 RCV000762910 RCV000670743 RCV003313827 RCV003314472 RCV003444027 RCV003324177 RCV003329139 RCV003336691 RCV003336692 RCV003388663 RCV003466309 RCV003466310 RCV003466311 RCV003466312 RCV003466313 RCV003466314 RCV003466315 RCV003466316 RCV003466317 RCV003466318 RCV003466319 RCV003466320 RCV003466321 RCV003466322 RCV003466323 RCV003466325 RCV003466326 RCV003466327 RCV003466328 RCV003466329 RCV003466330 RCV003466332 RCV003466333 RCV003466334 RCV003466335 RCV003466336 RCV003466337 RCV003466339 RCV003466340 RCV003466341 RCV003466342 RCV003466343 RCV003466344 RCV003466345 RCV003466346 RCV003466347 RCV003466348 RCV003466350 RCV003466351 RCV003466352 RCV003466353 RCV003466354 RCV003466355 RCV003466356 RCV003466357 RCV003466358 RCV003466359 RCV003466361 RCV003466362 RCV003466363 RCV003466364 RCV003466365 RCV003466366 RCV003466367 RCV003466368 RCV003466369 RCV003466370 RCV003466371 RCV003466372 RCV003466373 RCV003466374 RCV003466375 RCV003466376 RCV003466377 RCV003466378 RCV003466379 RCV003466381 RCV003472568 RCV003472569 RCV003472570 RCV003472571 RCV003472572 RCV003472573 RCV003472574 RCV003472575 RCV003472576 RCV003472578 RCV003472579 RCV003472580 RCV003472581 RCV003472582 RCV003472583 RCV003472584 RCV003472585 RCV003472586 RCV003472587 RCV004765001 RCV004574068 RCV005013046 RCV005409946 RCV005637004 RCV005013150 RCV004573338 RCV004573355 RCV003993717 RCV004576161 RCV004576162 RCV004576163 RCV004574812 RCV004574813 RCV004574814 RCV004574815 RCV004574816 RCV004574817 RCV004574818 RCV004574819 RCV004573533 RCV004573534 RCV004573535 RCV004573537 RCV004573538 RCV004573539 RCV004573540 RCV004573541 RCV004573542 RCV004573543 RCV004573544 RCV004573545 RCV004573546 RCV004573547 RCV004573548 RCV004573549 RCV004573550 RCV004573551 RCV004573552 RCV004573553 RCV004573554 RCV000409320 RCV000410263 RCV000409460 RCV000412310 RCV000411930 RCV000411243 RCV000411155 RCV000409109 RCV000410800 RCV000412102 RCV000412194 RCV000410993 RCV000411733 RCV000410430 RCV000409179 RCV000412241 RCV000410438 RCV000410298 RCV000410981 RCV000410587 RCV000410750 RCV000409008 RCV000411855 RCV000409838 RCV000409386 RCV000411570 RCV000408978 RCV000409571 RCV000409944 RCV000410665 RCV000410317 RCV000411674 RCV000412060 RCV000408983 RCV000412481 RCV000411394 RCV000409610 RCV000411320 RCV000410468 RCV000411355 RCV000409433 RCV000410379 RCV000411869 RCV000409299 RCV000409004 RCV000412471 RCV000412006 RCV000409240 RCV000411344 RCV000409566 RCV000410059 RCV000409192 RCV000410424 RCV000412449 RCV000409583 RCV000412109 RCV000411216 RCV000412355 RCV000409140 RCV000409133 RCV000411525 RCV000410288 RCV000409346 RCV000412381 RCV000410645 RCV000411780 RCV000410889 RCV000409220 RCV000411818 RCV000409079 RCV000411406 RCV000410403 RCV000409711 RCV000409439 RCV000409645 RCV000449537 RCV001782958 RCV001283763 RCV001785620 RCV005860084 RCV001785652 RCV001276945 RCV000674417 RCV000984213 RCV000674260 RCV004568750 RCV000578242 RCV001835847 RCV000032008 RCV000591507 RCV000612398 RCV000625786 RCV000625764 RCV000625765 RCV001785684 RCV000664233 RCV000673080 RCV000674839 RCV000669007 RCV000668994 RCV000669297 RCV000666783 RCV000674086 RCV000673391 RCV000674437 RCV000673287 RCV000667371 RCV000671528 RCV000674868 RCV000666608 RCV000667372 RCV000673654 RCV000673160 RCV000670921 RCV000670492 RCV000671834 RCV000671599 RCV000672857 RCV000673214 RCV000668565 RCV000671777 RCV000668407 RCV000671609 RCV000670862 RCV000667508 RCV000671337 RCV000666635 RCV000666183 RCV000666945 RCV000670397 RCV000671025 RCV000673405 RCV000674023 RCV000671109 RCV000667644 RCV000674360 RCV000664974 RCV000666271 RCV000665203 RCV000669195 RCV000673644 RCV000668806 RCV000664967 RCV000669989 RCV000669770 RCV000665272 RCV000674844 RCV000665635 RCV000667332 RCV000667512 RCV000672777 RCV000664830 RCV000672354 RCV000672222 RCV000674140 RCV000670029 RCV000670810 RCV000668193 RCV000672108 RCV000671013 RCV000668875 RCV000665628 RCV000671709 RCV000669284 RCV000674129 RCV000673091 RCV000664740 RCV000673586 RCV000673219 RCV000670846 RCV000667429 RCV000669495 RCV000665991 RCV000667379 RCV000669250 RCV000668512 RCV000665439 RCV000666291 RCV000666605 RCV000672257 RCV000673402 RCV000670859 RCV000664891 RCV000671001 RCV000668294 RCV000667425 RCV000672847 RCV000668817 RCV000673181 RCV000666450 RCV000666804 RCV000668473 RCV000673894 RCV000672515 RCV000670775 RCV000667339 RCV000667851 RCV000674504 RCV000666128 RCV000668288 RCV000670135 RCV000671797 RCV000672553 RCV000671785 RCV000672744 RCV000673869 RCV000666037 RCV000674267 RCV000670813 RCV000669728 RCV000671096 RCV000666383 RCV000677657 RCV000677658 RCV003472245 RCV000761546 RCV000781830 RCV004569536 RCV003472362 RCV001830692 RCV001785730 RCV000850595 RCV000850593 RCV000850594 RCV000988964 RCV000988966 RCV000991449 RCV003467552 RCV001004402 RCV003467581 RCV003473557 RCV001832428 RCV003467764 RCV005606753 RCV001785771 RCV001261525 RCV001785775 RCV005633884 RCV001174760 RCV001192590 RCV005012624 RCV003473764 RCV003469338 RCV001785796 RCV001255707 RCV001255708 RCV001255857 RCV002499459 RCV002271637 RCV001391383 RCV001391382 RCV001391381 RCV001391627 RCV001391626 RCV001391625 RCV001391624 RCV001391623 RCV001391622 RCV001391621 RCV001391620 RCV001391619 RCV001391618 RCV001391617 RCV001391616 RCV001391615 RCV001830105
Hereditary ataxia	Likely pathogenic; Pathogenic	rs867249938, rs374128662, rs1555252349	RCV005625669 RCV000824757 RCV005626145
Hereditary spastic paraplegia	Pathogenic; Likely pathogenic	rs765361868, rs770311689, rs61326562, rs61548169, rs2137590717, rs2137586930, rs1435126137, rs281865117, rs281865118, rs752059006, rs761089024, rs371019314, rs754439135, rs1160357920, rs923921184, rs1555251699, rs767871841 View all (2 more)	RCV001847304 RCV001847528 RCV001847534 RCV001847535 RCV001847548 RCV001847551 RCV001847552 RCV001847583 RCV001847584 RCV001848046 RCV000515938 RCV001848816 RCV001848893 RCV001848923 RCV001849000 RCV001849038 RCV001847200
Ovarian serous cystadenocarcinoma	Pathogenic	rs770490672	RCV005906933
Papillary renal cell carcinoma type 1	Likely pathogenic	rs2542415812	RCV005939489
SACS-related disorder	Likely pathogenic; Pathogenic	rs775059063, rs281865117, rs137853017, rs2542312909, rs867249938, rs994374354	RCV004748615 RCV004748502 RCV003415662 RCV003898940 RCV004748805 RCV003396439
Spastic paraplegia	Likely pathogenic; Pathogenic	rs750732115, rs2137596408, rs2137550994, rs899469618, rs2137552117, rs2137557859, rs2137561134, rs2137564626, rs2137565163, rs2137569225, rs2137569412, rs2137573025, rs2137610914, rs2137615608, rs2137622518 View all (353 more)	RCV001386448 RCV001377958 RCV001388519 RCV001382512 RCV001386614 RCV001381067 RCV001382083 RCV001381999 RCV001380877 RCV001383518 RCV001381975 RCV001390548 RCV001382750 RCV001385609 RCV001387164 RCV001381695 RCV001390906 RCV001389169 RCV001380838 RCV001380169 RCV001385563 RCV003588739 RCV003588740 RCV002568880 RCV003750864 RCV001866008 RCV003588769 RCV002542495 RCV003120717 RCV002543366 RCV001885404 RCV001897252 RCV001924150 RCV001994539 RCV001994605 RCV001941644 RCV001939412 RCV001960602 RCV001863890 RCV001946699 RCV001950930 RCV001931462 RCV001953837 RCV001910778 RCV001962227 RCV001967606 RCV001987866 RCV001891348 RCV001928957 RCV002027504 RCV001916980 RCV001919725 RCV002002380 RCV001994797 RCV002002445 RCV001993145 RCV002035271 RCV001993218 RCV001994657 RCV002000017 RCV002037806 RCV001972259 RCV001955384 RCV002007560 RCV001999710 RCV001962886 RCV001962960 RCV001939498 RCV001986687 RCV002002551 RCV001939334 RCV001941598 RCV001883059 RCV001951096 RCV001925798 RCV001958663 RCV001885797 RCV001931657 RCV001972862 RCV002030552 RCV002041966 RCV001890074 RCV001972740 RCV001972812 RCV001904555 RCV001953580 RCV001951390 RCV001983010 RCV001891213 RCV001891232 RCV001972058 RCV001982168 RCV001895500 RCV001974534 RCV001943515 RCV001934125 RCV003101688 RCV003111572 RCV001850396 RCV003588583 RCV001850393 RCV003588582 RCV001850407 RCV001850406 RCV001382654 RCV003062567 RCV003058406 RCV003062568 RCV003041183 RCV003062569 RCV003072857 RCV003070405 RCV002598743 RCV003087029 RCV002581827 RCV003097541 RCV002619784 RCV002611287 RCV002638070 RCV002624233 RCV002601068 RCV002643466 RCV002690955 RCV002755108 RCV002740818 RCV002756833 RCV002806928 RCV000460039 RCV001851681 RCV001851682 RCV002824159 RCV002815253 RCV002846501 RCV002835233 RCV002833402 RCV002843514 RCV002898745 RCV002866056 RCV000633059 RCV002857970 RCV002875870 RCV002858138 RCV002871666 RCV002876647 RCV002871414 RCV002881058 RCV002867817 RCV002909026 RCV002877225 RCV002942290 RCV002909778 RCV002994432 RCV002999842 RCV003028187 RCV003016489 RCV003037641 RCV003055541 RCV003039514 RCV003043384 RCV003049345 RCV003046652 RCV003047042 RCV003035791 RCV003036515 RCV003066103 RCV003750943 RCV001859535 RCV001223182 RCV001379554 RCV003588887 RCV005100221 RCV003750973 RCV003779104 RCV003588924 RCV003588925 RCV003588926 RCV003588927 RCV003779105 RCV003750974 RCV003589765 RCV003588987 RCV003589540 RCV003588973 RCV003589937 RCV003590532 RCV003590534 RCV003590524 RCV003589912 RCV003588378 RCV003588221 RCV003589287 RCV003589218 RCV003589266 RCV003589244 RCV003590020 RCV003590133 RCV003590291 RCV003590109 RCV003590097 RCV003590161 RCV003590203 RCV003590146 RCV003591071 RCV003590970 RCV003751000 RCV003751076 RCV003751201 RCV003751644 RCV003751727 RCV003751802 RCV003751846 RCV003751850 RCV003751897 RCV003751950 RCV003751989 RCV003751963 RCV003752080 RCV003752144 RCV003752040 RCV003752186 RCV003752307 RCV003752193 RCV003752384 RCV003752341 RCV003752417 RCV003752480 RCV003752460 RCV003752544 RCV003750341 RCV003750456 RCV003750444 RCV003750477 RCV003750458 RCV003750708 RCV003751257 RCV003751382 RCV003815889 RCV003822071 RCV003839846 RCV003845487 RCV003843868 RCV003849384 RCV003858932 RCV003851924 RCV003862374 RCV001218630 RCV001865265 RCV002523875 RCV003766121 RCV003750787 RCV001861386 RCV005090648 RCV001861363 RCV001861393 RCV002523868 RCV001861390 RCV001218622 RCV001388052 RCV002524619 RCV000704868 RCV001051132 RCV003750786 RCV001245824 RCV002523880 RCV003588624 RCV001387964 RCV001865273 RCV003588625 RCV001224413 RCV003588623 RCV001383371 RCV002523873 RCV001384946 RCV001243148 RCV001850954 RCV003750785 RCV000463355 RCV000470443 RCV000458276 RCV001857925 RCV001035595 RCV000706287 RCV001064306 RCV001851489 RCV000549870 RCV000536906 RCV000531534 RCV001044731 RCV001853995 RCV001380372 RCV003588659 RCV001065954 RCV000633036 RCV000691411 RCV003750816 RCV001381028 RCV003750814 RCV001232544 RCV001855479 RCV001389177 RCV001385440 RCV001868253 RCV001861822 RCV003750817 RCV001387161 RCV001204188 RCV001855535 RCV001380633 RCV002531332 RCV002532073 RCV001387162 RCV003767955 RCV003750811 RCV003750813 RCV002532164 RCV002532128 RCV003750818 RCV002544685 RCV000707311 RCV000696681 RCV000704212 RCV003750821 RCV000792819 RCV000821707 RCV000819911 RCV000795244 RCV000800465 RCV000793079 RCV000794256 RCV000824652 RCV000813900 RCV000802055 RCV000802665 RCV000821092 RCV000819151 RCV000808384 RCV000850334 RCV001386982 RCV001858698 RCV001003607 RCV003750840 RCV001862751 RCV001045016 RCV001051896 RCV001068096 RCV001037067 RCV001043420 RCV001064865 RCV001036146 RCV001046076 RCV001062774 RCV001050533 RCV001039830 RCV001038367 RCV001046270 RCV001062044 RCV001387163 RCV001232497 RCV001216711 RCV001215300 RCV001214103 RCV001213960 RCV001207414 RCV001233062 RCV001227414 RCV001233437 RCV001225898 RCV001238976 RCV001383726 RCV002541639 RCV001880217 RCV001880216 RCV003750860
Uterine corpus endometrial carcinoma	Pathogenic	rs973719913	RCV005927721

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1555254281	-
Acute myeloid leukemia	Benign; Likely benign	rs142967124, rs3751368	RCV005893643 RCV005893923
Cervical cancer	Benign; Likely benign	rs142967124	RCV005893644
Cholangiocarcinoma	Benign; Likely benign	rs142967124	RCV005893647
Clear cell carcinoma of kidney	Benign; Likely benign	rs142967124	RCV005893645
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	rs142967124, rs149638449	RCV005893642 RCV005901156
Gastric cancer	Benign; Likely benign	rs3751368	RCV005893927
Intellectual disability	Conflicting classifications of pathogenicity	rs111920492, rs556248979, rs186436335	RCV005625487 RCV005625541 RCV005625615
Lung cancer	Benign; Likely benign	rs142967124, rs3751368	RCV005893648 RCV005893928
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs3751368	RCV005893925
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	rs3751368, rs563145604	RCV005893924 RCV005913726
Myoepithelial tumor	Uncertain significance	rs759080255	RCV002463899
Sarcoma	Uncertain significance; Benign; Likely benign	rs965068037, rs3751368	RCV005918719 RCV005893926
See cases	Conflicting classifications of pathogenicity; Uncertain significance	rs746764976, rs968562650, rs771746381, rs1213203489	RCV002252684 RCV002252533 RCV002252206 RCV004797883
Spastic ataxia	Conflicting classifications of pathogenicity; Uncertain significance	rs751415868, rs2137722315, rs147949881	RCV001647189 RCV001647243 RCV001642968
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs762151262	RCV005930569

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)