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

Gene

• Entrez ID: 56916
• Gene name: SNF2 related chromatin remodeling ATPase with DExD box 1
• Gene symbol: SMARCAD1
• Synonyms (NCBI Gene): ADERM, BASNS, ETL1, HEL1, HRZ, TYS
• Chromosome: 4
• Chromosome location: 4q22.3
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 612761
• HGNC: 18398
• e!Ensembl: 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

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Adermatoglyphia	Pathogenic	rs1057519613, rs1114167276, rs1114167277	RCV000167533 RCV000167534 RCV000167535 RCV000023972	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basan syndrome	Pathogenic	rs895436485, rs1057519613	RCV000167536 RCV000417757	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoderma with scleroatrophy of the extremities	Pathogenic; Likely pathogenic	rs1114167276, rs1560542180, rs1560542214	RCV000761203 RCV000761204 RCV000761205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ECTODERMAL DYSPLASIA SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMARCAD1-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Absence of fingerprints-congenital milia syndrome	Basan syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amniotic Bands	Amniotic Bands	HPO_DG			★☆☆☆☆ Found in Text Mining only
Basan syndrome	Basan Syndrome	BEFREE	24664640, 26932190, 30289605		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basan syndrome	Basan Syndrome	GENOMICS_ENGLAND_DG	24664640, 24909267		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basan syndrome	Basan Syndrome	ORPHANET_DG	26932190		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basan syndrome	Basan Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Basan syndrome	Basan Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blister	Blister	Pubtator	30289605	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27232533, 30308496		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35592705	Associate	★☆☆☆☆ Found in Text Mining only
Congenital palmoplantar keratodermia	Congenital palmoplantar keratodermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	30289605	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31648709		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	30289605		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	30289605	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facial paresis hereditary congenital	Facial nerve disorder	Pubtator	30289605	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	11031099		★☆☆☆☆ Found in Text Mining only
Huriez syndrome	Huriez Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated congenital adermatoglyphia	Isolated Congenital Adermatoglyphia	Orphanet			★☆☆☆☆ Found in Text Mining only
Keratoderma with scleroatrophy of the extremities	Keratoderma With Scleroatrophy Of The Extremities	ORPHANET_DG	29409814		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoderma with scleroatrophy of the extremities	Keratoderma With Scleroatrophy Of The Extremities	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoderma with scleroatrophy of the extremities	Keratoderma With Scleroatrophy Of The Extremities	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG	24664640, 24909267		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	11031099		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27232533, 30308496		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30745850		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18675275		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30308496		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12527938		★☆☆☆☆ Found in Text Mining only
Palmar hyperkeratosis	Palmar hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30745850		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30745850	Associate	★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	30973115		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerodactyly	Sclerodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	25907251, 34589136	Associate	★☆☆☆☆ Found in Text Mining only