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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23345
Gene name Gene Name - the full gene name approved by the HGNC.	Spectrin repeat containing nuclear envelope protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SYNE1
Synonyms (NCBI Gene) Gene synonyms aliases	8B, AMC3, AMCM, ARCA1, C6orf98, CPG2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, dJ45H2.2
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q25.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35686213	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, synonymous variant
rs41301343	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs77853132	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs80265744	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs111367233	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs111511993	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs113163375	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs114858512	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs115534729	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs117360770	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs117480635	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs118022241	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs119103244	G>A,T	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs119103245	G>A	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs119103246	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs119103248	C>T	Uncertain-significance, pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs137919524	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138004884	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138032057	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs138039375	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138173087	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138277154	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138307449	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138407813	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs138509817	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138617999	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs138650597	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs138787771	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant
rs139070088	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs139466191	A>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs139480065	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, intron variant, upstream transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs139834542	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs140005424	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs140136749	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140259310	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs140577642	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140861713	A>G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs140927945	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs141170182	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141202420	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141263831	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs141315921	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs141464488	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs141586001	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs141716975	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs141858284	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs142251671	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs142422990	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs142690727	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs143070183	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs143093185	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs143105336	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs143118084	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs143490673	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs143674856	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs144056525	G>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs144105769	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs144376043	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs144418713	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs144435836	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs145401144	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146180064	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146238726	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146244669	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs146567178	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs146567226	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146705789	A>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs146789107	G>C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs147143947	C>A,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs147173664	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs147508177	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs147870520	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs147998933	A>G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs148008634	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148028681	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs148240825	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs148376885	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148486281	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs149005052	T>A,C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149109801	A>G,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs149146258	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149260051	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs149272010	C>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149536991	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs149758808	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs149901087	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, genic upstream transcript variant, intron variant, missense variant, non coding transcript variant
rs150072383	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs150170988	G>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs150304757	C>T	Benign, benign-likely-benign, likely-benign, likely-pathogenic, uncertain-significance	Intron variant, genic upstream transcript variant, non coding transcript variant
rs150376715	G>C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs150637898	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs150811468	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs150905950	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs150912982	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs151081036	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs151247098	T>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs183683592	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs184006845	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs184264920	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs185350092	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs185829704	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs187410988	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs199554198	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs199701902	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs199762799	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs199779021	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs199996504	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200002217	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs200276242	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200412221	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs200424447	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs200658991	C>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs201078523	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201146062	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs201344762	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs201392317	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs201692248	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, intron variant
rs201715967	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs201799566	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant, synonymous variant, genic downstream transcript variant
rs201898019	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, genic downstream transcript variant
rs201908045	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs202207154	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs367603152	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs368364250	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs369587906	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs371017408	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs372723292	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs372744173	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs372832470	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs373129942	G>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs373438870	A>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs375077588	G>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs375558499	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs375707429	G>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs375826346	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs375862387	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs376033376	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs376218204	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs376327805	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs376491803	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, genic downstream transcript variant, intron variant
rs376651419	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs377058395	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs377088951	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, intron variant
rs377113267	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs377344899	A>C,G	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs567435072	->A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs569973824	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, synonymous variant
rs570916267	G>A,T	Likely-pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs573806608	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs606231134	T>C	Pathogenic	Genic upstream transcript variant, intron variant
rs606231135	CA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs606231292	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant
rs746328978	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant, stop gained
rs746438011	A>G,T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs748695956	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs750318922	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs750669148	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant, genic downstream transcript variant
rs752224921	G>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs753367709	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs755531859	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs755622688	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs755709525	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs756713928	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs757104773	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs757124573	G>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs757280513	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs757479164	C>T	Uncertain-significance, pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs757744079	C>A,G	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs758337239	A>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs758375991	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs758555741	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, intron variant
rs759403157	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs759460806	T>C,G	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant
rs760209358	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs760715690	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs761266231	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs761395846	A>C,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs761939786	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs763325410	G>A,C	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant, genic downstream transcript variant, genic upstream transcript variant
rs763818494	G>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs763930147	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs765865910	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, coding sequence variant, synonymous variant
rs767090248	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs767294195	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs768958602	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs770210620	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs770448083	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, intron variant
rs771573516	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs771857618	T>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs771898973	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs771955377	G>A,T	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs773028680	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs773593843	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs774388631	->T	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant, genic upstream transcript variant
rs776288515	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs776505129	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs776806501	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs780451185	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs780644969	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs780991031	T>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs781552217	T>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs794727110	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs794727577	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs794727986	AATCA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs797045109	->CC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs797046024	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs797046025	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs797046026	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs863224927	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs863224928	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs863224929	TCTGAAATAAC>G	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant, genic upstream transcript variant, non coding transcript variant
rs886042380	T>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886042421	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886042657	GA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886042799	C>A,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886043012	->T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886043162	T>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886043645	AGAGACTGCGAAAGCTTCTTTTTGAAAGT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs886043963	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886044155	A>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs886044346	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886044380	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs886044588	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs893217390	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs910956017	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs968884551	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, synonymous variant, coding sequence variant
rs1057518603	G>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1057519157	C>-	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant, coding sequence variant
rs1057520134	G>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057520552	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057521719	T>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1057521813	A>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1060499769	C>T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1064794555	C>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1064796579	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1064797331	G>A	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs1064797332	G>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1164612098	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, splice donor variant
rs1174316105	G>A	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1194460500	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1203553546	C>A,T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1269308421	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained, synonymous variant
rs1362058277	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1385280819	->T	Likely-pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1412791793	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1452163185	A>G,T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, missense variant, coding sequence variant
rs1466752822	A>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, stop gained
rs1554226673	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs1554246434	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs1554247806	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1554372048	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1554414122	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554440887	AGGAGAAT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554451078	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554455233	->T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554468335	G>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554471992	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554491478	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1554544827	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1554550339	C>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant, non coding transcript variant
rs1554553667	->T	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1554558620	TCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCTC>-	Pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, frameshift variant
rs1554573328	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, genic upstream transcript variant, stop gained
rs1554676394	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554681651	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554709875	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1554721227	AC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554753528	T>C	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant, intron variant
rs1554756035	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1554768245	C>-	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1554829141	AG>-	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1562643321	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1562842409	C>A,T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1562984446	C>-	Pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1563118316	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1563123183	->T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1563130387	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1563330296	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs1563391747	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1563941569	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1564136499	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1564367104	GA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1564400585	T>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1564555089	C>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant
rs1586285494	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1586296730	G>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1586909309	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, genic upstream transcript variant
rs1588855714	A>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1589780980	T>GA	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1589919815	AAGGTTACCT>-	Likely-pathogenic	Intron variant, splice donor variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1590102028	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590230520	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590463470	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590820792	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590884711	CTGAGGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1590998146	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1592490234	TCACCTCTGC>-	Likely-pathogenic	Intron variant, splice donor variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1593379577	G>C	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1594574182	C>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant

Show/Hide all(124)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001329	hsa-miR-1-3p	pSILAC	18668040
MIRT019351	hsa-miR-148b-3p	Microarray	17612493
MIRT021329	hsa-miR-9-5p	Microarray	17612493
MIRT022525	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT001329	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT029291	hsa-miR-26b-5p	Microarray	19088304
MIRT032256	hsa-let-7b-5p	Proteomics	18668040
MIRT732926	hsa-miR-223-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blotting	31712567
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2343677	hsa-miR-3065-3p	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT2637342	hsa-miR-1184	CLIP-seq
MIRT2637343	hsa-miR-1205	CLIP-seq
MIRT2637344	hsa-miR-15a	CLIP-seq
MIRT2637345	hsa-miR-15b	CLIP-seq
MIRT2637346	hsa-miR-16	CLIP-seq
MIRT2637347	hsa-miR-195	CLIP-seq
MIRT2637348	hsa-miR-22	CLIP-seq
MIRT2637349	hsa-miR-29a	CLIP-seq
MIRT2637350	hsa-miR-29b	CLIP-seq
MIRT2637351	hsa-miR-29c	CLIP-seq
MIRT2637352	hsa-miR-3064-3p	CLIP-seq
MIRT2343677	hsa-miR-3065-3p	CLIP-seq
MIRT2637353	hsa-miR-3122	CLIP-seq
MIRT2637354	hsa-miR-3146	CLIP-seq
MIRT2637355	hsa-miR-3153	CLIP-seq
MIRT2637356	hsa-miR-3158-3p	CLIP-seq
MIRT2637357	hsa-miR-3158-5p	CLIP-seq
MIRT2637358	hsa-miR-3189-3p	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT2637359	hsa-miR-320a	CLIP-seq
MIRT2637360	hsa-miR-320b	CLIP-seq
MIRT2637361	hsa-miR-320c	CLIP-seq
MIRT2637362	hsa-miR-320d	CLIP-seq
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT2637363	hsa-miR-3909	CLIP-seq
MIRT2637364	hsa-miR-3913-5p	CLIP-seq
MIRT2637365	hsa-miR-424	CLIP-seq
MIRT2637366	hsa-miR-4429	CLIP-seq
MIRT2637367	hsa-miR-4502	CLIP-seq
MIRT2637368	hsa-miR-450b-3p	CLIP-seq
MIRT2637369	hsa-miR-4640-5p	CLIP-seq
MIRT2637370	hsa-miR-4642	CLIP-seq
MIRT2637371	hsa-miR-4668-5p	CLIP-seq
MIRT2637372	hsa-miR-4687-3p	CLIP-seq
MIRT2637373	hsa-miR-4721	CLIP-seq
MIRT2637374	hsa-miR-4724-5p	CLIP-seq
MIRT2637375	hsa-miR-4726-5p	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT2637376	hsa-miR-4760-3p	CLIP-seq
MIRT2637377	hsa-miR-4761-5p	CLIP-seq
MIRT2637378	hsa-miR-497	CLIP-seq
MIRT2637379	hsa-miR-544	CLIP-seq
MIRT2637380	hsa-miR-601	CLIP-seq
MIRT2637381	hsa-miR-634	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2637382	hsa-miR-647	CLIP-seq
MIRT2637383	hsa-miR-767-5p	CLIP-seq
MIRT2637384	hsa-miR-769-3p	CLIP-seq
MIRT2637385	hsa-miR-934	CLIP-seq
MIRT2637342	hsa-miR-1184	CLIP-seq
MIRT2637343	hsa-miR-1205	CLIP-seq
MIRT2637344	hsa-miR-15a	CLIP-seq
MIRT2637345	hsa-miR-15b	CLIP-seq
MIRT2637346	hsa-miR-16	CLIP-seq
MIRT2637347	hsa-miR-195	CLIP-seq
MIRT2637348	hsa-miR-22	CLIP-seq
MIRT2637349	hsa-miR-29a	CLIP-seq
MIRT2637350	hsa-miR-29b	CLIP-seq
MIRT2637351	hsa-miR-29c	CLIP-seq
MIRT2637352	hsa-miR-3064-3p	CLIP-seq
MIRT2343677	hsa-miR-3065-3p	CLIP-seq
MIRT2637353	hsa-miR-3122	CLIP-seq
MIRT2637354	hsa-miR-3146	CLIP-seq
MIRT2637355	hsa-miR-3153	CLIP-seq
MIRT2637356	hsa-miR-3158-3p	CLIP-seq
MIRT2637357	hsa-miR-3158-5p	CLIP-seq
MIRT2637358	hsa-miR-3189-3p	CLIP-seq
MIRT2121651	hsa-miR-3200-5p	CLIP-seq
MIRT2637359	hsa-miR-320a	CLIP-seq
MIRT2637360	hsa-miR-320b	CLIP-seq
MIRT2637361	hsa-miR-320c	CLIP-seq
MIRT2637362	hsa-miR-320d	CLIP-seq
MIRT1405701	hsa-miR-3689a-3p	CLIP-seq
MIRT1405702	hsa-miR-3689c	CLIP-seq
MIRT1405703	hsa-miR-3907	CLIP-seq
MIRT2637363	hsa-miR-3909	CLIP-seq
MIRT2637364	hsa-miR-3913-5p	CLIP-seq
MIRT2637365	hsa-miR-424	CLIP-seq
MIRT2637366	hsa-miR-4429	CLIP-seq
MIRT2637367	hsa-miR-4502	CLIP-seq
MIRT2637368	hsa-miR-450b-3p	CLIP-seq
MIRT2637371	hsa-miR-4668-5p	CLIP-seq
MIRT2637372	hsa-miR-4687-3p	CLIP-seq
MIRT2637373	hsa-miR-4721	CLIP-seq
MIRT2637374	hsa-miR-4724-5p	CLIP-seq
MIRT1405704	hsa-miR-4728-5p	CLIP-seq
MIRT1405705	hsa-miR-4729	CLIP-seq
MIRT2637377	hsa-miR-4761-5p	CLIP-seq
MIRT2637378	hsa-miR-497	CLIP-seq
MIRT2637379	hsa-miR-544	CLIP-seq
MIRT2637380	hsa-miR-601	CLIP-seq
MIRT2637381	hsa-miR-634	CLIP-seq
MIRT1405706	hsa-miR-636	CLIP-seq
MIRT2637382	hsa-miR-647	CLIP-seq
MIRT2637383	hsa-miR-767-5p	CLIP-seq
MIRT2637384	hsa-miR-769-3p	CLIP-seq
MIRT2637385	hsa-miR-934	CLIP-seq

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000932	Component	P-body	IDA	24862572
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003779	Function	Actin binding	IDA	12408964
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	12163176, 17462627, 18396275, 22632968, 28716842, 31413325, 33058875, 33393904
GO:0005521	Function	Lamin binding	IPI	11801724
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	11792814
GO:0005635	Component	Nuclear envelope	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA	24862572
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	11792814
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	12808039
GO:0005794	Component	Golgi apparatus	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006997	Process	Nucleus organization	NAS	11792814
GO:0007030	Process	Golgi organization	IDA	12808039
GO:0007283	Process	Spermatogenesis	IEA
GO:0016020	Component	Membrane	IDA	11792814
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	24862572
GO:0030017	Component	Sarcomere	IDA	12408964
GO:0030017	Component	Sarcomere	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IDA	18396275
GO:0034993	Component	Meiotic nuclear membrane microtubule tethering complex	IEA
GO:0042692	Process	Muscle cell differentiation	IDA	11792814
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	12163176
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0045211	Component	Postsynaptic membrane	IDA	10878022
GO:0051015	Function	Actin filament binding	ISS
GO:0090292	Process	Nuclear matrix anchoring at nuclear membrane	IDA	11801724
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IDA	18396275
GO:0140444	Function	Cytoskeleton-nuclear membrane anchor activity	IEA

MIM	HGNC	e!Ensembl
608441	17089	ENSG00000131018

Protein

UniProt ID

Q8NF91

Protein name

Nesprin-1 (Enaptin) (KASH domain-containing protein 1) (KASH1) (Myocyte nuclear envelope protein 1) (Myne-1) (Nuclear envelope spectrin repeat protein 1) (Synaptic nuclear envelope protein 1) (Syne-1)

Protein function

Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved

PDB

4DXR , 6R15 , 6XF2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	27 → 135	Calponin homology (CH) domain	Domain
PF00307	CH	178 → 284	Calponin homology (CH) domain	Domain
PF00435	Spectrin	3174 → 3277	Spectrin repeat	Domain
PF00435	Spectrin	3816 → 3919	Spectrin repeat	Domain
PF00435	Spectrin	5738 → 5835	Spectrin repeat	Domain
PF00435	Spectrin	7022 → 7126	Spectrin repeat	Domain
PF00435	Spectrin	7136 → 7233	Spectrin repeat	Domain
PF00435	Spectrin	7352 → 7453	Spectrin repeat	Domain
PF00435	Spectrin	7780 → 7882	Spectrin repeat	Domain
PF00435	Spectrin	7885 → 7996	Spectrin repeat	Domain
PF00435	Spectrin	8109 → 8211	Spectrin repeat	Domain
PF00435	Spectrin	8440 → 8547	Spectrin repeat	Domain
PF10541	KASH	8740 → 8797	Nuclear envelope localisation domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isofor

Sequence

MATSRGASRCPRDIANVMQRLQDEQEIVQKRTFTKWINSHLAKRKPPMVVDDLFEDMKDG
VKLLALLEVLSGQKLPCEQGRRMKRIHAVANIGTALKFLEGRKIKLVNINSTDIADGRPS
IVLGLMWTIILYFQIEELTSNLPQLQSLSSSASSVDSIVSSETPSPPSKRKVTTKIQGNA
KKALLKWVQYTAGKQTGIEVKDFGKSWRSGVAFHSVIHAIRPELVDLETVKGRSNRENLE
DAFTIAETELGIPRLLDPEDVDVDKPDEKSIMTYVAQFLKHYPDIHNASTDGQEDDEILP
GFPSFANSVQNFKREDRVIFKEMKVWIEQFERDLTRAQMVESNLQDKYQSFKHFRVQYEM
KRKQIEHLIQPLHRDGKLSLDQALVKQSWDRVTSRLFDWHIQLDKSLPAPLGTIGAWLYR
AEVALREEITVQQVHEETANTIQRKLEQHKDLLQNTDAHKRAFHEIYRTRSVNGIPVPPD
QLEDMAERFHFVSSTSELHLMKMEFLELKYRLLSLLVLAESKLKSWIIKYGRRESVEQLL
QNYVSFIENSKFFEQYEVTYQILKQTAEMYVKADGSVEEAENVMKFMNETTAQWRNLSVE
VRSVRSMLEEVISNWDRYGNTVASLQAWLEDAEKMLNQSENAKKDFFRNLPHWIQQHTAM
NDAGNFLIETCDEMVSRDLKQQLLLLNGRWRELFMEVKQYAQADEMDRMKKEYTDCVVTL
SAFATEAHKKLSEPLEVSFMNVKLLIQDLEDIEQRVPVMDAQYKIITKTAHLITKESPQE
EGKEMFATMSKLKEQLTKVKECYSPLLYESQQLLIPLEELEKQMTSFYDSLGKINEIITV
LEREAQSSALFKQKHQELLACQENCKKTLTLIEKGSQSVQKFVTLSNVLKHFDQTRLQRQ
IADIHVAFQSMVKKTGDWKKHVETNSRLMKKFEESRAELEKVLRIAQEGLEEKGDPEELL
RRHTEFFSQLDQRVLNAFLKACDELTDILPEQEQQGLQEAVRKLHKQWKDLQGEAPYHLL
HLKIDVEKNRFLASVEECRTELDRETKLMPQEGSEKIIKEHRVFFSDKGPHHLCEKRLQL
IEELCVKLPVRDPVRDTPGTCHVTLKELRAAIDSTYRKLMEDPDKWKDYTSRFSEFSSWI
STNETQLKGIKGEAIDTANHGEVKRAVEEIRNGVTKRGETLSWLKSRLKVLTEVSSENEA
QKQGDELAKLSSSFKALVTLLSEVEKMLSNFGDCVQYKEIVKNSLEELISGSKEVQEQAE
KILDTENLFEAQQLLLHHQQKTKRISAKKRDVQQQIAQAQQGEGGLPDRGHEELRKLEST
LDGLERSRERQERRIQVTLRKWERFETNKETVVRYLFQTGSSHERFLSFSSLESLSSELE
QTKEFSKRTESIAVQAENLVKEASEIPLGPQNKQLLQQQAKSIKEQVKKLEDTLEEDIKT
MEMVKTKWDHFGSNFETLSVWITEKEKELNALETSSSAMDMQISQIKVTIQEIESKLSSI
VGLEEEAQSFAQFVTTGESARIKAKLTQIRRYGEELREHAQCLEGTILGHLSQQQKFEEN
LRKIQQSVSEFEDKLAVPIKICSSATETYKVLQEHMDLCQALESLSSAITAFSASARKVV
NRDSCVQEAAALQQQYEDILRRAKERQTALENLLAHWQRLEKELSSFLTWLERGEAKASS
PEMDISADRVKVEGELQLIQALQNEVVSQASFYSKLLQLKESLFSVASKDDVKMMKLHLE
QLDERWRDLPQIINKRINFLQSVVAEHQQFDELLLSFSVWIKLFLSELQTTSEISIMDHQ
VALTRHKDHAAEVESKKGELQSLQGHLAKLGSLGRAEDLHLLQGKAEDCFQLFEEASQVV
ERRQLALSHLAEFLQSHASLSGILRQLRQTVEATNSMNKNESDLIEKDLNDALQNAKALE
SAAVSLDGILSKAQYHLKIGSSEQRTSCRATADQLCGEVERIQNLLGTKQSEADALAVLK
KAFQDQKEELLKSIEDIEERTDKERLKEPTRQALQQRLRVFNQLEDELNSHEHELCWLKD
KAKQIAQKDVAFAPEVDREINRLEVTWDDTKRLIHENQGQCCGLIDLMREYQNLKSAVSK
VLENASSVIVTRTTIKDQEDLKWAFSKHETAKNKMNYKQKDLDNFTSKGKHLLSELKKIH
SSDFSLVKTDMESTVDKWLDVSEKLEENMDRLRVSLSIWDDVLSTRDEIEGWSNNCVPQM
AENISNLDNHLRAEELLKEFESEVKNKALRLEELHSKVNDLKELTKNLETPPDLQFIEAD
LMQKLEHAKEITEVAKGTLKDFTAQSTQVEKFINDITTWFTKVEESLMNCAQNETCEALK
KVKDIQKELQSQQSNISSTQENLNSLCRKYHSAELESLGRAMTGLIKKHEAVSQLCSKTQ
ASLQESLEKHFSESMQEFQEWFLGAKAAAKESSDRTGDSKVLEAKLHDLQNILDSVSDGQ
SKLDAVTQEGQTLYAHLSKQIVSSIQEQITKANEEFQAFLKQCLKDKQALQDCASELGSF
EDQHRKLNLWIHEMEERFNTENLGESKQHIPEKKNEVHKVEMFLGELLAARESLDKLSQR
GQLLSEEGHGAGQEGRLCSQLLTSHQNLLRMTKEKLRSCQVALQEHEALEEALQSMWFWV
KAIQDRLACAESTLGSKDTLEKRLSQIQDILLMKGEGEVKLNMAIGKGEQALRSSNKEGQ
RVIQTQLETLKEVWADIMSSSVHAQSTLESVISQWNDYVERKNQLEQWMESVDQKIEHPL
QPQPGLKEKFVLLDHLQSILSEAEDHTRALHRLIAKSRELYEKTEDESFKDTAQEELKTQ
FNDIMTVAKEKMRKVEEIVKDHLMYLDAVHEFTDWLHSAKEELHRWSDMSGDSSATQKKL
SKIKELIDSREIGASRLSRVESLAPEVKQNTTASGCELMHTEMQALRADWKQWEDSVFQT
QSCLENLVSQMALSEQEFSGQVAQLEQALEQFSALLKTWAQQLTLLEGKNTDEEIVECWH
KGQEILDALQKAEPRTEDLKSQLNELCRFSRDLSTYSGKVSGLIKEYNCLCLQASKGCQN
KEQILQQRFRKAFRDFQQWLVNAKITTAKCFDIPQNISEVSTSLQKIQEFLSESENGQHK
LNMMLSKGELLSTLLTKEKAKGIQAKVTAAKEDWKNFHSNLHQKESALENLKIQMKDFEV
SAEPIQDWLSKTEKMVHESSNRLYDLPAKRREQQKLQSVLEEIHCYEPQLNRLKEKAQQL
WEGQAASKSFRHRVSQLSSQYLALSNLTKEKVSRLDRIVAEHNQFSLGIKELQDWMTDAI
HMLDSYCHPTSDKSVLDSRTLKLEALLSVKQEKEIQMKMIVTRGESVLQNTSPEGIPTIQ
QQLQSVKDMWASLLSAGIRCKSQLEGALSKWTSYQDGVRQFSGWMDSMEANLNESERQHA
ELRDKTTMLGKAKLLNEEVLSYSSLLETIEVKGAGMTEHYVTQLELQDLQERYRAIQERA
KEAVTKSEKLVRLHQEYQRDLKAFEVWLGQEQEKLDQYSVLEGDAHTHETTLRDLQELQV
HCAEGQALLNSVLHTREDVIPSGIPQAEDRALESLRQDWQAYQHRLSETRTQFNNVVNKL
RLMEQKFQQVDEWLKTAEEKVSPRTRRQSNRATKEIQLHQMKKWHEEVTAYRDEVEEVGA
RAQEILDESHVNSRMGCQATQLTSRYQALLLQVLEQIKFLEEEIQSLEESESSLSSYSDW
YGSTHKNFKNVATKIDKVDTVMMGKKLKTLEVLLKDMEKGHSLLKSAREKGERAVKYLEE
GEAERLRKEIHDHMEQLKELTSTVRKEHMTLEKGLHLAKEFSDKCKALTQWIAEYQEILH
VPEEPKMELYEKKAQLSKYKSLQQTVLSHEPSVKSVREKGEALLELVQDVTLKDKIDQLQ
SDYQDLCSIGKEHVFSLEAKVKDHEDYNSELQEVEKWLLQMSGRLVAPDLLETSSLETIT
QQLAHHKAMMEEIAGFEDRLNNLQMKGDTLIGQCADHLQAKLKQNVHAHLQGTKDSYSAI
CSTAQRMYQSLEHELQKHVSRQDTLQQCQAWLSAVQPDLEPSPQPPLSRAEAIKQVKHFR
ALQEQARTYLDLLCSMCDLSNASVKTTAKDIQQTEQTIEQKLVQAQNLTQGWEEIKHLKS
ELWIYLQDADQQLQNMKRRHSELELNIAQNMVSQVKDFVKKLQSKQASVNTIIEKVNKLT
KKEESPEHKEINHLNDQWLDLCRQSNNLCLQREEDLQRTRDYHDCMNVVEVFLEKFTTEW
DNLARSDAESTAVHLEALKKLALALQERKYAIEDLKDQKQKMIEHLNLDDKELVKEQTSH
LEQRWFQLEDLIKRKIQVSVTNLEELNVVQSRFQELMEWAEEQQPNIAEALKQSPPPDMA
QNLLMDHLAICSELEAKQMLLKSLIKDADRVMADLGLNERQVIQKALSDAQSHVNCLSDL
VGQRRKYLNKALSEKTQFLMAVFQATSQIQQHERKIMFREHICLLPDDVSKQVKTCKSAQ
ASLKTYQNEVTGLWAQGRELMKEVTEQEKSEVLGKLQELQSVYDSVLQKCSHRLQELEKN
LVSRKHFKEDFDKACHWLKQADIVTFPEINLMNESSELHTQLAKYQNILEQSPEYENLLL
TLQRTGQTILPSLNEVDHSYLSEKLNALPRQFNVIVALAKDKFYKVQEAILARKEYASLI
ELTTQSLSELEAQFLRMSKVPTDLAVEEALSLQDGCRAILDEVAGLGEAVDELNQKKEGF
RSTGQPWQPDKMLHLVTLYHRLKRQTEQRVSLLEDTTSAYQEHEKMCQQLERQLKSVKEE
QSKVNEETLPAEEKLKMYHSLAGSLQDSGIVLKRVTIHLEDLAPHLDPLAYEKARHQIQS
WQGELKLLTSAIGETVTECESRMVQSIDFQTEMSRSLDWLRRVKAELSGPVYLDLNLQDI
QEEIRKIQIHQEEVQSSLRIMNALSHKEKEKFTKAKELISADLEHSLAELSELDGDIQEA
LRTRQATLTEIYSQCQRYYQVFQAANDWLEDAQELLQLAGNGLDVESAEENLKSHMEFFS
TEDQFHSNLEELHSLVATLDPLIKPTGKEDLEQKVASLELRSQRMSRDSGAQVDLLQRCT
AQWHDYQKAREEVIELMNDTEKKLSEFSLLKTSSSHEAEEKLSEHKALVSVVNSFHEKIV
ALEEKASQLEKTGNDASKATLSRSMTTVWQRWTRLRAVAQDQEKILEDAVDEWTGFNNKV
KKATEMIDQLQDKLPGSSAEKASKAELLTLLEYHDTFVLELEQQQSALGMLRQQTLSMLQ
DGAAPTPGEEPPLMQEITAMQDRCLNMQEKVKTNGKLVKQELKDREMVETQINSVKCWVQ
ETKEYLGNPTIEIDAQLEELQILLTEATNHRQNIEKMAEEQKEKYLGLYTILPSELSLQL
AEVALDLKIRDQIQDKIKEVEQSKATSQELSRQIQKLAKDLTTILTKLKAKTDNVVQAKT
DQKVLGEELDGCNSKLMELDAAVQKFLEQNGQLGKPLAKKIGKLTELHQQTIRQAENRLS
KLNQAASHLEEYNEMLELILKWIEKAKVLAHGTIAWNSASQLREQYILHQTLLEESKEID
SELEAMTEKLQYLTSVYCTEKMSQQVAELGRETEELRQMIKIRLQNLQDAAKDMKKFEAE
LKKLQAALEQAQATLTSPEVGRLSLKEQLSHRQHLLSEMESLKPKVQAVQLCQSALRIPE
DVVASLPLCHAALRLQEEASRLQHTAIQQCNIMQEAVVQYEQYEQEMKHLQQLIEGAHRE
IEDKPVATSNIQELQAQISRHEELAQKIKGYQEQIASLNSKCKMLTMKAKHATMLLTVTE
VEGLAEGTEDLDGELLPTPSAHPSVVMMTAGRCHTLLSPVTEESGEEGTNSEISSPPACR
SPSPVANTDASVNQDIAYYQALSAERLQTDAAKIHPSTSASQEFYEPGLEPSATAKLGDL
QRSWETLKNVISEKQRTLYEALERQQKYQDSLQSISTKMEAIELKLSESPEPGRSPESQM
AEHQALMDEILMLQDEINELQSSLAEELVSESCEADPAEQLALQSTLTVLAERMSTIRMK
ASGKRQLLEEKLNDQLEEQRQEQALQRYRCEADELDSWLLSTKATLDTALSPPKEPMDME
AQLMDCQNMLVEIEQKVVALSELSVHNENLLLEGKAHTKDEAEQLAGKLRRLKGSLLELQ
RALHDKQLNMQGTAQEKEESDVDLTATQSPGVQEWLAQARTTWTQQRQSSLQQQKELEQE
LAEQKSLLRSVASRGEEILIQHSAAETSGDAGEKPDVLSQELGMEGEKSSAEDQMRMKWE
SLHQEFSTKQKLLQNVLEQEQEQVLYSRPNRLLSGVPLYKGDVPTQDKSAVTSLLDGLNQ
AFEEVSSQSGGAKRQSIHLEQKLYDGVSATSTWLDDVEERLFVATALLPEETETCLFNQE
ILAKDIKEMSEEMDKNKNLFSQAFPENGDNRDVIEDTLGCLLGRLSLLDSVVNQRCHQMK
ERLQQILNFQNDLKVLFTSLADNKYIILQKLANVFEQPVAEQIEAIQQAEDGLKEFDAGI
IELKRRGDKLQVEQPSMQELSKLQDMYDELMMIIGSRRSGLNQNLTLKSQYERALQDLAD
LLETGQEKMAGDQKIIVSSKEEIQQLLDKHKEYFQGLESHMILTETLFRKIISFAVQKET
QFHTELMAQASAVLKRAHKRGVELEYILETWSHLDEDQQELSRQLEVVESSIPSVGLVEE
NEDRLIDRITLYQHLKSSLNEYQPKLYQVLDDGKRLLISISCSDLESQLNQLGECWLSNT
NKMSKELHRLETILKHWTRYQSESADLIHWLQSAKDRLEFWTQQSVTVPQELEMVRDHLN
AFLEFSKEVDAQSSLKSSVLSTGNQLLRLKKVDTATLRSELSRIDSQWTDLLTNIPAVQE
KLHQLQMDKLPSRHAISEVMSWISLMENVIQKDEDNIKNSIGYKAIHEYLQKYKGFKIDI
NCKQLTVDFVNQSVLQISSQDVESKRSDKTDFAEQLGAMNKSWQILQGLVTEKIQLLEGL
LESWSEYENNVQCLKTWFETQEKRLKQQHRIGDQASVQNALKDCQDLEDLIKAKEKEVEK
IEQNGLALIQNKKEDVSSIVMSTLRELGQTWANLDHMVGQLKILLKSVLDQWSSHKVAFD
KINSYLMEARYSLSRFRLLTGSLEAVQVQVDNLQNLQDDLEKQERSLQKFGSITNQLLKE
CHPPVTETLTNTLKEVNMRWNNLLEEIAEQLQSSKALLQLWQRYKDYSKQCASTVQQQED
RTNELLKAATNKDIADDEVATWIQDCNDLLKGLGTVKDSLFFLHELGEQLKQQVDASAAS
AIQSDQLSLSQHLCALEQALCKQQTSLQAGVLDYETFAKSLEALEAWIVEAEEILQGQDP
SHSSDLSTIQERMEELKGQMLKFSSMAPDLDRLNELGYRLPLNDKEIKRMQNLNRHWSLI
SSQTTERFSKLQSFLLQHQTFLEKCETWMEFLVQTEQKLAVEISGNYQHLLEQQRAHELF
QAEMFSRQQILHSIIIDGQRLLEQGQVDDRDEFNLKLTLLSNQWQGVIRRAQQRRGIIDS
QIRQWQRYREMAEKLRKWLVEVSYLPMSGLGSVPIPLQQARTLFDEVQFKEKVFLRQQGS
YILTVEAGKQLLLSADSGAEAALQAELAEIQEKWKSASMRLEEQKKKLAFLLKDWEKCEK
GIADSLEKLRTFKKKLSQSLPDHHEELHAEQMRCKELENAVGSWTDDLTQLSLLKDTLSA
YISADDISILNERVELLQRQWEELCHQLSLRRQQIGERLNEWAVFSEKNKELCEWLTQME
SKVSQNGDILIEEMIEKLKKDYQEEIAIAQENKIQLQQMGERLAKASHESKASEIEYKLG
KVNDRWQHLLDLIAARVKKLKETLVAVQQLDKNMSSLRTWLAHIESELAKPIVYDSCNSE
EIQRKLNEQQELQRDIEKHSTGVASVLNLCEVLLHDCDACATDAECDSIQQATRNLDRRW
RNICAMSMERRLKIEETWRLWQKFLDDYSRFEDWLKSSERTAAFPSSSGVIYTVAKEELK
KFEAFQRQVHECLTQLELINKQYRRLARENRTDSACSLKQMVHEGNQRWDNLQKRVTSIL
RRLKHFIGQREEFETARDSILVWLTEMDLQLTNIEHFSECDVQAKIKQLKAFQQEISLNH
NKIEQIIAQGEQLIEKSEPLDAAIIEEELDELRRYCQEVFGRVERYHKKLIRLPLPDDEH
DLSDRELELEDSAALSDLHWHDRSADSLLSPQPSSNLSLSLAQPLRSERSGRDTPASVDS
IPLEWDHDYDLSRDLESAMSRALPSEDEEGQDDKDFYLRGAVGLSGDHSALESQIRQLGK
ALDDSRFQIQQTENIIRSKTPTGPELDTSYKGYMKLLGECSSSIDSVKRLEHKLKEEEES
LPGFVNLHSTETQTAGVIDRWELLQAQALSKELRMKQNLQKWQQFNSDLNSIWAWLGDTE
EELEQLQRLELSTDIQTIELQIKKLKELQKAVDHRKAIILSINLCSPEFTQADSKESRDL
QDRLSQMNGRWDRVCSLLEEWRGLLQDALMQCQGFHEMSHGLLLMLENIDRRKNEIVPID
SNLDAEILQDHHKQLMQIKHELLESQLRVASLQDMSCQLLVNAEGTDCLEAKEKVHVIGN
RLKLLLKEVSRHIKELEKLLDVSSSQQDLSSWSSADELDTSGSVSPTSGRSTPNRQKTPR
GKCSLSQPGPSVSSPHSRSTKGGSDSSLSEPGPGRSGRGFLFRVLRAALPLQLLLLLLIG
LACLVPMSEEDYSCALSNNFARSFHPMLRYTNGPPPL

Sequence length

8797

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita 3, myogenic type	rs746177326, rs760715690, rs1586285494	N/A
Ataxia	autosomal recessive ataxia, beauce type	rs1554829141, rs1564136499, rs797046024, rs763325410, rs1269308421, rs119103243, rs797046026, rs1554721227, rs119103244, rs780451185, rs1554226673, rs119103245, rs863224929, rs1554768245, rs606231135 View all (20 more)	N/A
Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	rs606231134, rs1586909309, rs1588855714, rs1554451078	N/A
Amyotrophic Lateral Sclerosis	juvenile amyotrophic lateral sclerosis	rs2076486420, rs775935265	N/A
Cerebellar Ataxia	Autosomal recessive cerebellar ataxia	rs759460806	N/A

Show/Hide Unknown Diseases (10)

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.
Bipolar Disorder	Bipolar disorder, Bipolar I disorder	N/A	N/A	GWAS
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Endometriosis	Endometriosis	N/A	N/A	GWAS
Ependymoma	ependymoma	N/A	N/A	ClinVar
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Myogenic Arthrogryposis Multiplex Congenita	autosomal recessive myogenic arthrogryposis multiplex congenita	N/A	N/A	GenCC
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Spastic Ataxia	spastic ataxia	N/A	N/A	ClinVar
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (83)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma Mucinous	Associate	20056644
Adenoma	Associate	21154739, 28058013
Adenoma Villous	Associate	21154739
Alcoholic Neuropathy	Associate	27178001
Amyotrophic Lateral Sclerosis	Associate	25681989
Anorexia Nervosa	Associate	20375995
Arrhythmias Cardiac	Associate	33949037
Arthritis Psoriatic	Associate	34344401
Arthrogryposis	Associate	27178001, 27782104, 35595401, 35739559
Arthrogryposis multiplex congenita distal type 1	Associate	27782104
Asthma	Associate	27445529
Ataxia	Associate	27178001, 29915382
Ataxia Telangiectasia Like Disorder	Associate	29915382
Atherosclerosis	Associate	40076866
Autism Spectrum Disorder	Associate	31674007
Autosomal Recessive Cerebellar Ataxia Type 1	Associate	35595401
Basal Ganglia Diseases	Associate	29509064
Bipolar Disorder	Associate	24387768, 30610203, 31236099, 40562893
Breast Neoplasms	Associate	32734521, 34888385
Bundle Branch Block	Associate	33567613
Carcinoma Hepatocellular	Associate	35602894
Carcinoma Ovarian Epithelial	Associate	20056644, 37762518
Carcinoma Renal Cell	Associate	25184692, 35886066, 37480572
Carcinoma Renal Cell	Inhibit	39473430
Cardiomyopathies	Associate	28594148, 35595401
Cardiomyopathy Dilated	Associate	28594148, 33949037
Cardiomyopathy Right Ventricular Dilated	Associate	33567613
Cerebellar Ataxia	Associate	27086870, 27178001, 27782104, 29482223, 34663476, 38136976
Cerebellar Diseases	Associate	35595401
Charcot Marie Tooth Disease	Associate	22555292
Charcot Marie Tooth disease Type 2B	Associate	22555292
Cognition Disorders	Associate	27178001, 35595401
Colorectal Neoplasms	Associate	25538088, 28058013, 33714943
Contracture	Associate	28583108
Conversion Disorder	Associate	34371182
Coronary Artery Disease	Associate	27864399
Coronavirus Infections	Associate	32747502
Creutzfeldt Jakob Syndrome	Associate	29509064
Death Sudden Cardiac	Associate	33949037
Diffuse Lewy Body Disease with Gaze Palsy	Associate	35595401
Dysmenorrhea	Associate	25315199
Exotropia	Associate	39773702
Fanconi Anemia	Associate	31990679
Gait Disorders Neurologic	Associate	29509064
Genetic Diseases Inborn	Associate	35739559
Genital Neoplasms Female	Associate	37762518
Gerstmann Straussler Scheinker Disease	Associate	29509064
Glioblastoma	Associate	21649900
Heart Diseases	Associate	30610203
Immunologic Deficiency Syndromes	Associate	38136976
Inflammation	Associate	37762518
Leukemia	Associate	26308964
Leukemic Infiltration	Associate	37762518
Lung Neoplasms	Associate	19017733
Lymphoma Follicular	Associate	27750045
Lymphoma Mantle Cell	Associate	32584970, 32770099
Major Affective Disorder 2	Associate	28178086
Migraine Disorders	Associate	25315199
Mitochondrial Diseases	Associate	38136976
Muscle Hypotonia	Associate	35739559
Muscle Spasticity	Associate	27178001
Muscular Atrophy	Associate	28583108
Muscular Atrophy Spinal	Associate	27178001
Muscular Dystrophies	Associate	35595401
Muscular Dystrophy Duchenne	Associate	22555292
Muscular Dystrophy Emery Dreifuss	Associate	22555292, 23671687, 28583108
Myocardial Infarction	Associate	40076866
Myotonia Congenita	Associate	32231000
Myotonic Dystrophy	Associate	34371182
Neoplasms	Inhibit	19017733
Neoplasms	Associate	26352260, 35886066, 37762518
Neuromuscular Diseases	Associate	27178001, 27782104, 33567613
Ovarian Neoplasms	Associate	20056644, 37762518
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	27750045
Retinal Dysplasia	Associate	21154739
Schizophrenia	Associate	24387768
Shwachman Diamond Syndrome	Associate	31990679
Spinocerebellar Ataxias	Associate	27178001, 35595401
Spinocerebellar Degenerations	Associate	29509064
Squamous Cell Carcinoma of Head and Neck	Associate	37340028, 37373553
Stomach Neoplasms	Associate	33530176, 34095982
Urinary Bladder Neoplasms	Associate	37247272
Ventricular Fibrillation	Associate	33949037

SYNE1 (spectrin repeat containing nuclear envelope protein 1)