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.	56916
Gene name Gene Name - the full gene name approved by the HGNC.	SNF2 related chromatin remodeling ATPase with DExD box 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SMARCAD1
Synonyms (NCBI Gene) Gene synonyms aliases	ADERM, BASNS, ETL1, HEL1, HRZ, TYS
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs895436485	A>G,T	Pathogenic	Intron variant
rs1057519613	G>A,T	Pathogenic	Splice donor variant, intron variant
rs1114167276	T>C	Pathogenic	Splice donor variant, intron variant
rs1114167277	G>C	Pathogenic	Intron variant
rs1560542180	GAAGGCATAAGCACTGGT>-	Pathogenic	5 prime UTR variant, intron variant, splice donor variant
rs1560542214	->T	Pathogenic	Intron variant, splice donor variant

Show/Hide all(375)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026072	hsa-miR-196a-5p	Sequencing	20371350
MIRT032177	hsa-let-7d-5p	Sequencing	20371350
MIRT052382	hsa-let-7a-5p	CLASH	23622248
MIRT044732	hsa-miR-320a	CLASH	23622248
MIRT094457	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT094460	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT094474	hsa-miR-4458	PAR-CLIP	20371350
MIRT094463	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT094465	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT094464	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT094461	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT032177	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT094458	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT094475	hsa-miR-4500	PAR-CLIP	20371350
MIRT052382	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT213827	hsa-miR-5692a	PAR-CLIP	20371350
MIRT311040	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT501062	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT501061	hsa-miR-5680	PAR-CLIP	20371350
MIRT094473	hsa-miR-3927-3p	PAR-CLIP	20371350
MIRT094478	hsa-miR-6831-5p	PAR-CLIP	20371350
MIRT213826	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT501060	hsa-miR-5002-5p	PAR-CLIP	20371350
MIRT501059	hsa-miR-3689d	PAR-CLIP	20371350
MIRT501058	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT213825	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT501057	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT501056	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT213823	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT213824	hsa-miR-4443	PAR-CLIP	20371350
MIRT213828	hsa-miR-6515-5p	PAR-CLIP	20371350
MIRT529357	hsa-miR-548a-3p	PAR-CLIP	22012620
MIRT529356	hsa-miR-548ar-3p	PAR-CLIP	22012620
MIRT529355	hsa-miR-548az-3p	PAR-CLIP	22012620
MIRT529354	hsa-miR-548e-3p	PAR-CLIP	22012620
MIRT529353	hsa-miR-548f-3p	PAR-CLIP	22012620
MIRT529352	hsa-miR-548av-3p	PAR-CLIP	22012620
MIRT529351	hsa-miR-3129-3p	PAR-CLIP	22012620
MIRT529350	hsa-miR-5583-5p	PAR-CLIP	22012620
MIRT529349	hsa-miR-892c-5p	PAR-CLIP	22012620
MIRT529348	hsa-miR-1251-3p	PAR-CLIP	22012620
MIRT094457	hsa-let-7b-5p	PAR-CLIP	24398324
MIRT094460	hsa-let-7e-5p	PAR-CLIP	24398324
MIRT094474	hsa-miR-4458	PAR-CLIP	24398324
MIRT094463	hsa-miR-98-5p	PAR-CLIP	24398324
MIRT094465	hsa-let-7i-5p	PAR-CLIP	24398324
MIRT094464	hsa-let-7g-5p	PAR-CLIP	24398324
MIRT094461	hsa-let-7f-5p	PAR-CLIP	24398324
MIRT032177	hsa-let-7d-5p	PAR-CLIP	24398324
MIRT094458	hsa-let-7c-5p	PAR-CLIP	24398324
MIRT094475	hsa-miR-4500	PAR-CLIP	24398324
MIRT052382	hsa-let-7a-5p	PAR-CLIP	24398324
MIRT213827	hsa-miR-5692a	PAR-CLIP	24398324
MIRT311040	hsa-miR-1277-5p	PAR-CLIP	24398324
MIRT501062	hsa-miR-338-5p	PAR-CLIP	24398324
MIRT501061	hsa-miR-5680	PAR-CLIP	24398324
MIRT094473	hsa-miR-3927-3p	PAR-CLIP	24398324
MIRT094478	hsa-miR-6831-5p	PAR-CLIP	24398324
MIRT213826	hsa-miR-5011-5p	PAR-CLIP	24398324
MIRT501060	hsa-miR-5002-5p	PAR-CLIP	24398324
MIRT501059	hsa-miR-3689d	PAR-CLIP	24398324
MIRT501058	hsa-miR-6851-5p	PAR-CLIP	24398324
MIRT213825	hsa-miR-4650-3p	PAR-CLIP	24398324
MIRT501057	hsa-miR-520d-5p	PAR-CLIP	24398324
MIRT501056	hsa-miR-524-5p	PAR-CLIP	24398324
MIRT213823	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT213824	hsa-miR-4443	PAR-CLIP	24398324
MIRT213828	hsa-miR-6515-5p	PAR-CLIP	24398324
MIRT094457	hsa-let-7b-5p	PAR-CLIP	20371350
MIRT094460	hsa-let-7e-5p	PAR-CLIP	20371350
MIRT094474	hsa-miR-4458	PAR-CLIP	20371350
MIRT094463	hsa-miR-98-5p	PAR-CLIP	20371350
MIRT094465	hsa-let-7i-5p	PAR-CLIP	20371350
MIRT094464	hsa-let-7g-5p	PAR-CLIP	20371350
MIRT094461	hsa-let-7f-5p	PAR-CLIP	20371350
MIRT032177	hsa-let-7d-5p	PAR-CLIP	20371350
MIRT094458	hsa-let-7c-5p	PAR-CLIP	20371350
MIRT094475	hsa-miR-4500	PAR-CLIP	20371350
MIRT052382	hsa-let-7a-5p	PAR-CLIP	20371350
MIRT213827	hsa-miR-5692a	PAR-CLIP	20371350
MIRT311040	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT501062	hsa-miR-338-5p	PAR-CLIP	20371350
MIRT501061	hsa-miR-5680	PAR-CLIP	20371350
MIRT094473	hsa-miR-3927-3p	PAR-CLIP	20371350
MIRT094478	hsa-miR-6831-5p	PAR-CLIP	20371350
MIRT213826	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT501060	hsa-miR-5002-5p	PAR-CLIP	20371350
MIRT501059	hsa-miR-3689d	PAR-CLIP	20371350
MIRT501058	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT213825	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT501057	hsa-miR-520d-5p	PAR-CLIP	20371350
MIRT501056	hsa-miR-524-5p	PAR-CLIP	20371350
MIRT213823	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT213824	hsa-miR-4443	PAR-CLIP	20371350
MIRT213828	hsa-miR-6515-5p	PAR-CLIP	20371350
MIRT529357	hsa-miR-548a-3p	PAR-CLIP	22012620
MIRT529356	hsa-miR-548ar-3p	PAR-CLIP	22012620
MIRT529355	hsa-miR-548az-3p	PAR-CLIP	22012620
MIRT529354	hsa-miR-548e-3p	PAR-CLIP	22012620
MIRT529353	hsa-miR-548f-3p	PAR-CLIP	22012620
MIRT529352	hsa-miR-548av-3p	PAR-CLIP	22012620
MIRT529351	hsa-miR-3129-3p	PAR-CLIP	22012620
MIRT529350	hsa-miR-5583-5p	PAR-CLIP	22012620
MIRT529349	hsa-miR-892c-5p	PAR-CLIP	22012620
MIRT529348	hsa-miR-1251-3p	PAR-CLIP	22012620
MIRT094457	hsa-let-7b-5p	PAR-CLIP	24398324
MIRT094460	hsa-let-7e-5p	PAR-CLIP	24398324
MIRT094474	hsa-miR-4458	PAR-CLIP	24398324
MIRT094463	hsa-miR-98-5p	PAR-CLIP	24398324
MIRT094465	hsa-let-7i-5p	PAR-CLIP	24398324
MIRT094464	hsa-let-7g-5p	PAR-CLIP	24398324
MIRT094461	hsa-let-7f-5p	PAR-CLIP	24398324
MIRT032177	hsa-let-7d-5p	PAR-CLIP	24398324
MIRT094458	hsa-let-7c-5p	PAR-CLIP	24398324
MIRT094475	hsa-miR-4500	PAR-CLIP	24398324
MIRT052382	hsa-let-7a-5p	PAR-CLIP	24398324
MIRT213827	hsa-miR-5692a	PAR-CLIP	24398324
MIRT311040	hsa-miR-1277-5p	PAR-CLIP	24398324
MIRT501062	hsa-miR-338-5p	PAR-CLIP	24398324
MIRT501061	hsa-miR-5680	PAR-CLIP	24398324
MIRT094473	hsa-miR-3927-3p	PAR-CLIP	24398324
MIRT094478	hsa-miR-6831-5p	PAR-CLIP	24398324
MIRT213826	hsa-miR-5011-5p	PAR-CLIP	24398324
MIRT501060	hsa-miR-5002-5p	PAR-CLIP	24398324
MIRT501059	hsa-miR-3689d	PAR-CLIP	24398324
MIRT501058	hsa-miR-6851-5p	PAR-CLIP	24398324
MIRT213825	hsa-miR-4650-3p	PAR-CLIP	24398324
MIRT501057	hsa-miR-520d-5p	PAR-CLIP	24398324
MIRT501056	hsa-miR-524-5p	PAR-CLIP	24398324
MIRT213823	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT213824	hsa-miR-4443	PAR-CLIP	24398324
MIRT213828	hsa-miR-6515-5p	PAR-CLIP	24398324
MIRT1371597	hsa-miR-124	CLIP-seq
MIRT1371598	hsa-miR-3617	CLIP-seq
MIRT1371599	hsa-miR-3671	CLIP-seq
MIRT1371600	hsa-miR-3714	CLIP-seq
MIRT1371601	hsa-miR-3910	CLIP-seq
MIRT1371602	hsa-miR-4495	CLIP-seq
MIRT1371603	hsa-miR-506	CLIP-seq
MIRT1371604	hsa-miR-548p	CLIP-seq
MIRT1371605	hsa-miR-641	CLIP-seq
MIRT1371606	hsa-let-7a	CLIP-seq
MIRT1371607	hsa-let-7b	CLIP-seq
MIRT1371608	hsa-let-7c	CLIP-seq
MIRT1371609	hsa-let-7d	CLIP-seq
MIRT1371610	hsa-let-7e	CLIP-seq
MIRT1371611	hsa-let-7f	CLIP-seq
MIRT1371612	hsa-let-7g	CLIP-seq
MIRT1371613	hsa-let-7i	CLIP-seq
MIRT1371614	hsa-miR-1208	CLIP-seq
MIRT1371615	hsa-miR-1238	CLIP-seq
MIRT1371616	hsa-miR-128	CLIP-seq
MIRT1371617	hsa-miR-130a	CLIP-seq
MIRT1371618	hsa-miR-130b	CLIP-seq
MIRT1371619	hsa-miR-151-3p	CLIP-seq
MIRT1371620	hsa-miR-200b	CLIP-seq
MIRT1371621	hsa-miR-200c	CLIP-seq
MIRT1371622	hsa-miR-2116	CLIP-seq
MIRT1371623	hsa-miR-2682	CLIP-seq
MIRT1371624	hsa-miR-27a	CLIP-seq
MIRT1371625	hsa-miR-27b	CLIP-seq
MIRT1371626	hsa-miR-301a	CLIP-seq
MIRT1371627	hsa-miR-301b	CLIP-seq
MIRT1371628	hsa-miR-3145-3p	CLIP-seq
MIRT1371629	hsa-miR-3148	CLIP-seq
MIRT1371630	hsa-miR-335	CLIP-seq
MIRT1371631	hsa-miR-34b	CLIP-seq
MIRT1371632	hsa-miR-3660	CLIP-seq
MIRT1371633	hsa-miR-3666	CLIP-seq
MIRT1371634	hsa-miR-3927	CLIP-seq
MIRT1371635	hsa-miR-3978	CLIP-seq
MIRT1371636	hsa-miR-4263	CLIP-seq
MIRT1371637	hsa-miR-4264	CLIP-seq
MIRT1371638	hsa-miR-4277	CLIP-seq
MIRT1371639	hsa-miR-429	CLIP-seq
MIRT1371640	hsa-miR-4295	CLIP-seq
MIRT1371641	hsa-miR-4423-3p	CLIP-seq
MIRT1371642	hsa-miR-4461	CLIP-seq
MIRT1371643	hsa-miR-4463	CLIP-seq
MIRT1371644	hsa-miR-4473	CLIP-seq
MIRT1371602	hsa-miR-4495	CLIP-seq
MIRT1371645	hsa-miR-4499	CLIP-seq
MIRT1371646	hsa-miR-449c	CLIP-seq
MIRT1371647	hsa-miR-4513	CLIP-seq
MIRT1371648	hsa-miR-4514	CLIP-seq
MIRT1371649	hsa-miR-4517	CLIP-seq
MIRT1371650	hsa-miR-4526	CLIP-seq
MIRT1371651	hsa-miR-454	CLIP-seq
MIRT1371652	hsa-miR-4658	CLIP-seq
MIRT1371653	hsa-miR-4671-3p	CLIP-seq
MIRT1371654	hsa-miR-4692	CLIP-seq
MIRT1371655	hsa-miR-4693-3p	CLIP-seq
MIRT1371656	hsa-miR-4709-5p	CLIP-seq
MIRT1371657	hsa-miR-4758-5p	CLIP-seq
MIRT1371658	hsa-miR-4797-3p	CLIP-seq
MIRT1371659	hsa-miR-4799-5p	CLIP-seq
MIRT1371660	hsa-miR-498	CLIP-seq
MIRT1371661	hsa-miR-501-3p	CLIP-seq
MIRT1371662	hsa-miR-502-3p	CLIP-seq
MIRT1371663	hsa-miR-513a-5p	CLIP-seq
MIRT1371604	hsa-miR-548p	CLIP-seq
MIRT1371664	hsa-miR-570	CLIP-seq
MIRT1371665	hsa-miR-576-5p	CLIP-seq
MIRT1371666	hsa-miR-622	CLIP-seq
MIRT1371667	hsa-miR-767-5p	CLIP-seq
MIRT1371668	hsa-miR-889	CLIP-seq
MIRT1371669	hsa-miR-940	CLIP-seq
MIRT1371670	hsa-miR-98	CLIP-seq
MIRT1371606	hsa-let-7a	CLIP-seq
MIRT1371607	hsa-let-7b	CLIP-seq
MIRT1371608	hsa-let-7c	CLIP-seq
MIRT1371609	hsa-let-7d	CLIP-seq
MIRT1371610	hsa-let-7e	CLIP-seq
MIRT1371611	hsa-let-7f	CLIP-seq
MIRT1371612	hsa-let-7g	CLIP-seq
MIRT1371613	hsa-let-7i	CLIP-seq
MIRT1371614	hsa-miR-1208	CLIP-seq
MIRT2110255	hsa-miR-1270	CLIP-seq
MIRT2110256	hsa-miR-155	CLIP-seq
MIRT2110257	hsa-miR-219-2-3p	CLIP-seq
MIRT2110258	hsa-miR-2964a-3p	CLIP-seq
MIRT2110259	hsa-miR-3152-5p	CLIP-seq
MIRT1371631	hsa-miR-34b	CLIP-seq
MIRT2110260	hsa-miR-3673	CLIP-seq
MIRT1371634	hsa-miR-3927	CLIP-seq
MIRT1371637	hsa-miR-4264	CLIP-seq
MIRT2110261	hsa-miR-4297	CLIP-seq
MIRT2110262	hsa-miR-4680-3p	CLIP-seq
MIRT2110263	hsa-miR-4705	CLIP-seq
MIRT2110264	hsa-miR-4774-3p	CLIP-seq
MIRT1371658	hsa-miR-4797-3p	CLIP-seq
MIRT1371659	hsa-miR-4799-5p	CLIP-seq
MIRT1371664	hsa-miR-570	CLIP-seq
MIRT2110265	hsa-miR-576-3p	CLIP-seq
MIRT2110266	hsa-miR-620	CLIP-seq
MIRT1371666	hsa-miR-622	CLIP-seq
MIRT2110267	hsa-miR-875-3p	CLIP-seq
MIRT1371668	hsa-miR-889	CLIP-seq
MIRT1371670	hsa-miR-98	CLIP-seq
MIRT1371606	hsa-let-7a	CLIP-seq
MIRT1371607	hsa-let-7b	CLIP-seq
MIRT1371608	hsa-let-7c	CLIP-seq
MIRT1371609	hsa-let-7d	CLIP-seq
MIRT1371610	hsa-let-7e	CLIP-seq
MIRT1371611	hsa-let-7f	CLIP-seq
MIRT1371612	hsa-let-7g	CLIP-seq
MIRT1371613	hsa-let-7i	CLIP-seq
MIRT2333813	hsa-miR-1206	CLIP-seq
MIRT1371614	hsa-miR-1208	CLIP-seq
MIRT2333814	hsa-miR-1225-5p	CLIP-seq
MIRT2333815	hsa-miR-1236	CLIP-seq
MIRT1371597	hsa-miR-124	CLIP-seq
MIRT2333816	hsa-miR-1243	CLIP-seq
MIRT2333817	hsa-miR-1245	CLIP-seq
MIRT2110255	hsa-miR-1270	CLIP-seq
MIRT1371619	hsa-miR-151-3p	CLIP-seq
MIRT2333818	hsa-miR-1825	CLIP-seq
MIRT2333819	hsa-miR-196a	CLIP-seq
MIRT2333820	hsa-miR-196b	CLIP-seq
MIRT2333821	hsa-miR-199a-5p	CLIP-seq
MIRT2333822	hsa-miR-199b-5p	CLIP-seq
MIRT2110257	hsa-miR-219-2-3p	CLIP-seq
MIRT2110258	hsa-miR-2964a-3p	CLIP-seq
MIRT1371628	hsa-miR-3145-3p	CLIP-seq
MIRT2110259	hsa-miR-3152-5p	CLIP-seq
MIRT2333823	hsa-miR-3163	CLIP-seq
MIRT2333824	hsa-miR-3171	CLIP-seq
MIRT2333825	hsa-miR-3173-3p	CLIP-seq
MIRT2333826	hsa-miR-329	CLIP-seq
MIRT1371630	hsa-miR-335	CLIP-seq
MIRT2333827	hsa-miR-340	CLIP-seq
MIRT1371631	hsa-miR-34b	CLIP-seq
MIRT2333828	hsa-miR-362-3p	CLIP-seq
MIRT2333829	hsa-miR-3646	CLIP-seq
MIRT2333830	hsa-miR-3654	CLIP-seq
MIRT2333831	hsa-miR-3662	CLIP-seq
MIRT1371599	hsa-miR-3671	CLIP-seq
MIRT2110260	hsa-miR-3673	CLIP-seq
MIRT2333832	hsa-miR-3677-5p	CLIP-seq
MIRT2333833	hsa-miR-3688-5p	CLIP-seq
MIRT1371600	hsa-miR-3714	CLIP-seq
MIRT2333834	hsa-miR-374c	CLIP-seq
MIRT1371601	hsa-miR-3910	CLIP-seq
MIRT2333835	hsa-miR-3937	CLIP-seq
MIRT2333836	hsa-miR-3941	CLIP-seq
MIRT2333837	hsa-miR-3942-5p	CLIP-seq
MIRT1371636	hsa-miR-4263	CLIP-seq
MIRT2333838	hsa-miR-4282	CLIP-seq
MIRT2110261	hsa-miR-4297	CLIP-seq
MIRT2333839	hsa-miR-4422	CLIP-seq
MIRT2333840	hsa-miR-4432	CLIP-seq
MIRT2333841	hsa-miR-4460	CLIP-seq
MIRT1371643	hsa-miR-4463	CLIP-seq
MIRT2333842	hsa-miR-4470	CLIP-seq
MIRT1371602	hsa-miR-4495	CLIP-seq
MIRT1371645	hsa-miR-4499	CLIP-seq
MIRT2333843	hsa-miR-4509	CLIP-seq
MIRT1371647	hsa-miR-4513	CLIP-seq
MIRT2333844	hsa-miR-451b	CLIP-seq
MIRT2333845	hsa-miR-4643	CLIP-seq
MIRT1371652	hsa-miR-4658	CLIP-seq
MIRT2110262	hsa-miR-4680-3p	CLIP-seq
MIRT2333846	hsa-miR-4688	CLIP-seq
MIRT2333847	hsa-miR-4703-5p	CLIP-seq
MIRT2110263	hsa-miR-4705	CLIP-seq
MIRT1371656	hsa-miR-4709-5p	CLIP-seq
MIRT2333848	hsa-miR-4727-3p	CLIP-seq
MIRT2333849	hsa-miR-4727-5p	CLIP-seq
MIRT2333850	hsa-miR-4744	CLIP-seq
MIRT2333851	hsa-miR-4755-3p	CLIP-seq
MIRT1371657	hsa-miR-4758-5p	CLIP-seq
MIRT2333852	hsa-miR-4766-3p	CLIP-seq
MIRT2333853	hsa-miR-4769-3p	CLIP-seq
MIRT2110264	hsa-miR-4774-3p	CLIP-seq
MIRT1371659	hsa-miR-4799-5p	CLIP-seq
MIRT2333854	hsa-miR-486-5p	CLIP-seq
MIRT2333855	hsa-miR-496	CLIP-seq
MIRT1371660	hsa-miR-498	CLIP-seq
MIRT1371603	hsa-miR-506	CLIP-seq
MIRT2333856	hsa-miR-513a-3p	CLIP-seq
MIRT2333857	hsa-miR-520a-5p	CLIP-seq
MIRT2333858	hsa-miR-525-5p	CLIP-seq
MIRT2333859	hsa-miR-548c-3p	CLIP-seq
MIRT1371604	hsa-miR-548p	CLIP-seq
MIRT1371664	hsa-miR-570	CLIP-seq
MIRT1371665	hsa-miR-576-5p	CLIP-seq
MIRT2333860	hsa-miR-603	CLIP-seq
MIRT2110266	hsa-miR-620	CLIP-seq
MIRT1371666	hsa-miR-622	CLIP-seq
MIRT2333861	hsa-miR-624	CLIP-seq
MIRT2333862	hsa-miR-655	CLIP-seq
MIRT2333863	hsa-miR-760	CLIP-seq
MIRT1371667	hsa-miR-767-5p	CLIP-seq
MIRT2110267	hsa-miR-875-3p	CLIP-seq
MIRT2333864	hsa-miR-935	CLIP-seq
MIRT1371670	hsa-miR-98	CLIP-seq
MIRT2628087	hsa-miR-607	CLIP-seq
MIRT2628087	hsa-miR-607	CLIP-seq
MIRT2691413	hsa-miR-105	CLIP-seq
MIRT2333815	hsa-miR-1236	CLIP-seq
MIRT2333816	hsa-miR-1243	CLIP-seq
MIRT2691414	hsa-miR-1284	CLIP-seq
MIRT2691415	hsa-miR-1299	CLIP-seq
MIRT2110257	hsa-miR-219-2-3p	CLIP-seq
MIRT2110258	hsa-miR-2964a-3p	CLIP-seq
MIRT2691416	hsa-miR-3133	CLIP-seq
MIRT2691417	hsa-miR-3143	CLIP-seq
MIRT2691418	hsa-miR-3161	CLIP-seq
MIRT2333823	hsa-miR-3163	CLIP-seq
MIRT2333829	hsa-miR-3646	CLIP-seq
MIRT2333830	hsa-miR-3654	CLIP-seq
MIRT2333831	hsa-miR-3662	CLIP-seq
MIRT1371599	hsa-miR-3671	CLIP-seq
MIRT2110260	hsa-miR-3673	CLIP-seq
MIRT2691419	hsa-miR-3908	CLIP-seq
MIRT2333835	hsa-miR-3937	CLIP-seq
MIRT2333837	hsa-miR-3942-5p	CLIP-seq
MIRT2691420	hsa-miR-3977	CLIP-seq
MIRT2691421	hsa-miR-410	CLIP-seq
MIRT2691422	hsa-miR-4261	CLIP-seq
MIRT2691423	hsa-miR-4490	CLIP-seq
MIRT2691424	hsa-miR-4511	CLIP-seq
MIRT2110262	hsa-miR-4680-3p	CLIP-seq
MIRT2691425	hsa-miR-4686	CLIP-seq
MIRT2333847	hsa-miR-4703-5p	CLIP-seq
MIRT2691426	hsa-miR-4738-3p	CLIP-seq
MIRT2333852	hsa-miR-4766-3p	CLIP-seq
MIRT2691427	hsa-miR-4782-5p	CLIP-seq
MIRT2691428	hsa-miR-4803	CLIP-seq
MIRT2333854	hsa-miR-486-5p	CLIP-seq
MIRT2691429	hsa-miR-516b	CLIP-seq
MIRT2691430	hsa-miR-582-3p	CLIP-seq
MIRT2628087	hsa-miR-607	CLIP-seq
MIRT2333863	hsa-miR-760	CLIP-seq
MIRT2110267	hsa-miR-875-3p	CLIP-seq

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000018	Process	Regulation of DNA recombination	IEP	11031099
GO:0000166	Function	Nucleotide binding	IEA
GO:0000729	Process	DNA double-strand break processing	IBA
GO:0000729	Process	DNA double-strand break processing	IMP	22960744
GO:0000785	Component	Chromatin	IBA
GO:0000792	Component	Heterochromatin	IEA
GO:0000792	Component	Heterochromatin	ISS
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	18675275
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	18675275, 21549307
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IMP	22960744
GO:0006338	Process	Chromatin remodeling	NAS	21549307
GO:0006974	Process	DNA damage response	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0035861	Component	Site of double-strand break	IDA	22960744
GO:0043130	Function	Ubiquitin binding	IEA
GO:0043596	Component	Nuclear replication fork	IDA	21549307
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0051304	Process	Chromosome separation	IMP	21549307
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IMP	22960744
GO:0140750	Function	Nucleosome array spacer activity	IBA

MIM	HGNC	e!Ensembl
612761	18398	ENSG00000163104

Protein

UniProt ID

Q9H4L7

Protein name

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (SMARCAD1) (EC 3.6.4.12) (ATP-dependent helicase 1) (hHEL1)

Protein function

DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably act

PDB

6H3A , 6QU1 , 7Z36

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00176	SNF2_N	498 → 788	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	854 → 967	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is expressed ubiquitously. Isoform 3 is expressed mainly in skin and esophagus. Expressed in fibroblasts and keratinocytes (at protein level) (PubMed:29409814). {ECO:0000269|PubMed:11031099, ECO:0000269|PubMed:21820097, ECO:0

Sequence

MNLFNLDRFRFEKRNKIEEAPEATPQPSQPGPSSPISLSAEEENAEGEVSRANTPDSDIT
EKTEDSSVPETPDNERKASISYFKNQRGIQYIDLSSDSEDVVSPNCSNTVQEKTFNKDTV
IIVSEPSEDEESQGLPTMARRNDDISELEDLSELEDLKDAKLQTLKELFPQRSDNDLLKL
IESTSTMDGAIAAALLMFGDAGGGPRKRKLSSSSEPYEEDEFNDDQSIKKTRLDHGEESN
ESAESSSNWEKQESIVLKLQKEFPNFDKQELREVLKEHEWMYTEALESLKVFAEDQDMQY
VSQSEVPNGKEVSSRSQNYPKNATKTKLKQKFSMKAQNGFNKKRKKNVFNPKRVVEDSEY
DSGSDVGSSLDEDYSSGEEVMEDGYKGKILHFLQDASIGELTLIPQCSQKKAQKITELRP
FNSWEALFTKMSKTNGLSEDLIWHCKTLIQERDVVIRLMNKCEDISNKLTKQVTMLTGNG
GGWNIEQPSILNQSLSLKPYQKVGLNWLALVHKHGLNGILADEMGLGKTIQAIAFLAYLY
QEGNNGPHLIVVPASTIDNWLREVNLWCPTLKVLCYYGSQEERKQIRFNIHSRYEDYNVI
VTTYNCAISSSDDRSLFRRLKLNYAIFDEGHMLKNMGSIRYQHLMTINANNRLLLTGTPV
QNNLLELMSLLNFVMPHMFSSSTSEIRRMFSSKTKSADEQSIYEKERIAHAKQIIKPFIL
RRVKEEVLKQLPPKKDRIELCAMSEKQEQLYLGLFNRLKKSINNLEKNTEMCNVMMQLRK
MANHPLLHRQYYTAEKLKEMSQLMLKEPTHCEANPDLIFEDMEVMTDFELHVLCKQYRHI
NNFQLDMDLILDSGKFRVLGCILSELKQKGDRVVLFSQFTMMLDILEVLLKHHQHRYLRL
DGKTQISERIHLIDEFNTDMDIFVFLLSTKAGGLGINLTSANVVILHDIDCNPYNDKQAE
DRCHRVGQTKEVLVIKLISQGTIEESMLKINQQKLKLEQDMTTVDEGDEGSMPADIATLL
KTSMGL

Sequence length

1026

Interactions

View interactions

	KEGG
	Signaling pathways regulating pluripotency of stem cells

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Basan Syndrome	basan syndrome	rs1057519613, rs895436485	N/A
Isolated Congenital Adermatoglyphia	Adermatoglyphia	rs1114167276, rs1114167277, rs1057519613	N/A
Keratoderma With Scleroatrophy Of The Extremities	keratoderma with scleroatrophy of the extremities	rs1114167276, rs1560542180, rs1560542214	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Androgenetic Alopecia	Androgenetic alopecia	N/A	N/A	GWAS
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Ectodermal Dysplasia	ectodermal dysplasia syndrome	N/A	N/A	GenCC
Palmoplantar keratoderma	palmoplantar keratoderma-sclerodactyly syndrome	N/A	N/A	GenCC
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Basan syndrome	Associate	26932190, 30289605, 35592705
Blister	Associate	30289605
Carcinoma Squamous Cell	Associate	35592705
Contracture	Associate	30289605
Ectodermal Dysplasia	Associate	30289605
Facial paresis hereditary congenital	Associate	30289605
Fingerprints Absence of	Associate	26932190, 30289605
Immunodeficiency X Linked with Deficiency of 115 000 Dalton Surface Glycoprotein	Associate	26932190
Mental Disorders	Associate	30289605
Nail Diseases	Associate	30289605
Neoplasm Metastasis	Associate	30745850
Pancreatic Neoplasms	Associate	30745850
Syndrome	Associate	30289605
Urinary Bladder Neoplasms	Associate	25907251, 34589136

SMARCAD1 (SNF2 related chromatin remodeling ATPase with DExD box 1)