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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6605
Gene name	SWI/SNF related BAF chromatin remodeling complex subunit E1
Gene symbol	SMARCE1
Synonyms (NCBI Gene)	BAF57CSS5
Chromosome	17
Chromosome location	17q21.2
Summary	The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF c

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SNP ID	Visualize variation	Clinical significance	Consequence
rs201484943	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs387906857	T>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397509405	G>A	Risk-factor	Stop gained, coding sequence variant
rs397509406	A>G	Risk-factor	Splice donor variant
rs397509407	C>G,T	Risk-factor, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs397509408	->G	Risk-factor	Frameshift variant, coding sequence variant
rs797045990	CACT>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854603	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518166	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060501395	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064796712	GA>TT	Likely-pathogenic	Intron variant
rs1085307924	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1426841589	C>A,T	Pathogenic	Splice donor variant
rs1555605347	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555605750	GC>A	Pathogenic	Frameshift variant, coding sequence variant
rs1555605752	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555605795	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555605893	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597746020	C>T	Uncertain-significance, likely-pathogenic	Splice donor variant

383

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020807	hsa-miR-155-5p	Proteomics	18668040
MIRT027099	hsa-miR-103a-3p	Sequencing	20371350
MIRT029727	hsa-miR-26b-5p	Microarray	19088304
MIRT047936	hsa-miR-30c-5p	CLASH	23622248
MIRT043752	hsa-miR-328-3p	CLASH	23622248
MIRT052720	hsa-miR-1260b	CLASH	23622248
MIRT653368	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653367	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT653366	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653365	hsa-miR-5193	HITS-CLIP	23824327
MIRT287112	hsa-miR-3183	HITS-CLIP	23824327
MIRT287116	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT287119	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653364	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT653363	hsa-miR-4518	HITS-CLIP	23824327
MIRT287120	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT077050	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT077049	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT077055	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT653362	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653361	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT287121	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT641906	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT641905	hsa-miR-4490	HITS-CLIP	23824327
MIRT641904	hsa-miR-4774-5p	HITS-CLIP	23824327
MIRT641903	hsa-miR-3182	HITS-CLIP	23824327
MIRT641902	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT505593	hsa-miR-107	PAR-CLIP	20371350
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	20371350
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	20371350
MIRT505590	hsa-miR-1184	PAR-CLIP	20371350
MIRT505589	hsa-miR-1205	PAR-CLIP	20371350
MIRT505588	hsa-miR-17-3p	PAR-CLIP	20371350
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	20371350
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	20371350
MIRT505585	hsa-miR-544a	PAR-CLIP	20371350
MIRT505593	hsa-miR-107	PAR-CLIP	21572407
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT554117	hsa-miR-3910	PAR-CLIP	21572407
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT554116	hsa-miR-4476	PAR-CLIP	21572407
MIRT554115	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	21572407
MIRT505590	hsa-miR-1184	PAR-CLIP	21572407
MIRT505589	hsa-miR-1205	PAR-CLIP	21572407
MIRT505588	hsa-miR-17-3p	PAR-CLIP	21572407
MIRT554114	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT554113	hsa-miR-3160-3p	PAR-CLIP	21572407
MIRT554112	hsa-miR-558	PAR-CLIP	21572407
MIRT554111	hsa-miR-4487	PAR-CLIP	21572407
MIRT554110	hsa-miR-1256	PAR-CLIP	21572407
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT554108	hsa-miR-8065	PAR-CLIP	21572407
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	21572407
MIRT505585	hsa-miR-544a	PAR-CLIP	21572407
MIRT505593	hsa-miR-107	PAR-CLIP	23446348
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	23446348
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	23446348
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	23446348
MIRT505590	hsa-miR-1184	PAR-CLIP	23446348
MIRT505589	hsa-miR-1205	PAR-CLIP	23446348
MIRT505588	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	23446348
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT505585	hsa-miR-544a	PAR-CLIP	23446348
MIRT736306	hsa-miR-206	Luciferase reporter assayRNA-seqqRT-PCR	32129700
MIRT653368	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT653367	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT653366	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653365	hsa-miR-5193	HITS-CLIP	23824327
MIRT287112	hsa-miR-3183	HITS-CLIP	23824327
MIRT287116	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT287119	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653364	hsa-miR-1266-5p	HITS-CLIP	23824327
MIRT653363	hsa-miR-4518	HITS-CLIP	23824327
MIRT287120	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT077050	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT077049	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT077055	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT653362	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653361	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653360	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT287121	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT641906	hsa-miR-6870-3p	HITS-CLIP	23824327
MIRT641905	hsa-miR-4490	HITS-CLIP	23824327
MIRT641904	hsa-miR-4774-5p	HITS-CLIP	23824327
MIRT641903	hsa-miR-3182	HITS-CLIP	23824327
MIRT641902	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT505593	hsa-miR-107	PAR-CLIP	20371350
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	20371350
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	20371350
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	20371350
MIRT505590	hsa-miR-1184	PAR-CLIP	20371350
MIRT505589	hsa-miR-1205	PAR-CLIP	20371350
MIRT505588	hsa-miR-17-3p	PAR-CLIP	20371350
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	20371350
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	20371350
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	20371350
MIRT505585	hsa-miR-544a	PAR-CLIP	20371350
MIRT505593	hsa-miR-107	PAR-CLIP	21572407
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT554117	hsa-miR-3910	PAR-CLIP	21572407
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT554116	hsa-miR-4476	PAR-CLIP	21572407
MIRT554115	hsa-miR-6876-5p	PAR-CLIP	21572407
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	21572407
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	21572407
MIRT505590	hsa-miR-1184	PAR-CLIP	21572407
MIRT505589	hsa-miR-1205	PAR-CLIP	21572407
MIRT505588	hsa-miR-17-3p	PAR-CLIP	21572407
MIRT554114	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT554113	hsa-miR-3160-3p	PAR-CLIP	21572407
MIRT554112	hsa-miR-558	PAR-CLIP	21572407
MIRT554111	hsa-miR-4487	PAR-CLIP	21572407
MIRT554110	hsa-miR-1256	PAR-CLIP	21572407
MIRT554109	hsa-miR-376a-2-5p	PAR-CLIP	21572407
MIRT554108	hsa-miR-8065	PAR-CLIP	21572407
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	21572407
MIRT505585	hsa-miR-544a	PAR-CLIP	21572407
MIRT505593	hsa-miR-107	PAR-CLIP	23446348
MIRT027099	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT505592	hsa-miR-5571-5p	PAR-CLIP	23446348
MIRT505591	hsa-miR-520f-5p	PAR-CLIP	23446348
MIRT077061	hsa-miR-3158-5p	PAR-CLIP	23446348
MIRT505590	hsa-miR-1184	PAR-CLIP	23446348
MIRT505589	hsa-miR-1205	PAR-CLIP	23446348
MIRT505588	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT505587	hsa-miR-376a-5p	PAR-CLIP	23446348
MIRT505586	hsa-miR-4684-5p	PAR-CLIP	23446348
MIRT505585	hsa-miR-544a	PAR-CLIP	23446348
MIRT1372042	hsa-miR-103a	CLIP-seq
MIRT1372043	hsa-miR-1200	CLIP-seq
MIRT1372044	hsa-miR-1322	CLIP-seq
MIRT1372045	hsa-miR-135a	CLIP-seq
MIRT1372046	hsa-miR-135b	CLIP-seq
MIRT1372047	hsa-miR-190	CLIP-seq
MIRT1372048	hsa-miR-190b	CLIP-seq
MIRT1372049	hsa-miR-214	CLIP-seq
MIRT1372050	hsa-miR-2467-5p	CLIP-seq
MIRT1372051	hsa-miR-3119	CLIP-seq
MIRT1372052	hsa-miR-3136-5p	CLIP-seq
MIRT1372053	hsa-miR-3144-5p	CLIP-seq
MIRT1372054	hsa-miR-3188	CLIP-seq
MIRT1372055	hsa-miR-3191	CLIP-seq
MIRT1372056	hsa-miR-3199	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372058	hsa-miR-320a	CLIP-seq
MIRT1372059	hsa-miR-320b	CLIP-seq
MIRT1372060	hsa-miR-320c	CLIP-seq
MIRT1372061	hsa-miR-320d	CLIP-seq
MIRT1372062	hsa-miR-323-5p	CLIP-seq
MIRT1372063	hsa-miR-3613-3p	CLIP-seq
MIRT1372064	hsa-miR-3616-3p	CLIP-seq
MIRT1372065	hsa-miR-3619-5p	CLIP-seq
MIRT1372066	hsa-miR-3650	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT1372068	hsa-miR-3663-5p	CLIP-seq
MIRT1372069	hsa-miR-3689a-5p	CLIP-seq
MIRT1372070	hsa-miR-3689b	CLIP-seq
MIRT1372071	hsa-miR-3689e	CLIP-seq
MIRT1372072	hsa-miR-3689f	CLIP-seq
MIRT1372073	hsa-miR-3920	CLIP-seq
MIRT1372074	hsa-miR-3975	CLIP-seq
MIRT1372075	hsa-miR-3977	CLIP-seq
MIRT1372076	hsa-miR-4291	CLIP-seq
MIRT1372077	hsa-miR-4303	CLIP-seq
MIRT1372078	hsa-miR-4324	CLIP-seq
MIRT1372079	hsa-miR-433	CLIP-seq
MIRT1372080	hsa-miR-4429	CLIP-seq
MIRT1372081	hsa-miR-4439	CLIP-seq
MIRT1372082	hsa-miR-4464	CLIP-seq
MIRT1372083	hsa-miR-4474-5p	CLIP-seq
MIRT1372084	hsa-miR-450b-3p	CLIP-seq
MIRT1372085	hsa-miR-4513	CLIP-seq
MIRT1372086	hsa-miR-4515	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT1372088	hsa-miR-455-5p	CLIP-seq
MIRT1372089	hsa-miR-4646-5p	CLIP-seq
MIRT1372090	hsa-miR-4649-3p	CLIP-seq
MIRT1372091	hsa-miR-4652-5p	CLIP-seq
MIRT1372092	hsa-miR-4694-3p	CLIP-seq
MIRT1372093	hsa-miR-4713-3p	CLIP-seq
MIRT1372094	hsa-miR-4719	CLIP-seq
MIRT1372095	hsa-miR-4721	CLIP-seq
MIRT1372096	hsa-miR-4747-5p	CLIP-seq
MIRT1372097	hsa-miR-4748	CLIP-seq
MIRT1372098	hsa-miR-4762-3p	CLIP-seq
MIRT1372099	hsa-miR-4764-5p	CLIP-seq
MIRT1372100	hsa-miR-4799-5p	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT1372102	hsa-miR-485-5p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372104	hsa-miR-515-5p	CLIP-seq
MIRT1372105	hsa-miR-522	CLIP-seq
MIRT1372106	hsa-miR-544	CLIP-seq
MIRT1372107	hsa-miR-544b	CLIP-seq
MIRT1372108	hsa-miR-554	CLIP-seq
MIRT1372109	hsa-miR-577	CLIP-seq
MIRT1372110	hsa-miR-601	CLIP-seq
MIRT1372111	hsa-miR-638	CLIP-seq
MIRT1372112	hsa-miR-760	CLIP-seq
MIRT1372113	hsa-miR-761	CLIP-seq
MIRT1372114	hsa-miR-769-3p	CLIP-seq
MIRT1372115	hsa-miR-873	CLIP-seq
MIRT1372116	hsa-miR-876-3p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372118	hsa-miR-922	CLIP-seq
MIRT1372042	hsa-miR-103a	CLIP-seq
MIRT2110457	hsa-miR-1246	CLIP-seq
MIRT2110458	hsa-miR-1290	CLIP-seq
MIRT2110459	hsa-miR-1912	CLIP-seq
MIRT2110460	hsa-miR-3130-5p	CLIP-seq
MIRT2110461	hsa-miR-3134	CLIP-seq
MIRT2110462	hsa-miR-3167	CLIP-seq
MIRT1372073	hsa-miR-3920	CLIP-seq
MIRT1372082	hsa-miR-4464	CLIP-seq
MIRT2110463	hsa-miR-4482	CLIP-seq
MIRT1372097	hsa-miR-4748	CLIP-seq
MIRT1372098	hsa-miR-4762-3p	CLIP-seq
MIRT1372099	hsa-miR-4764-5p	CLIP-seq
MIRT1372106	hsa-miR-544	CLIP-seq
MIRT1372108	hsa-miR-554	CLIP-seq
MIRT2110464	hsa-miR-876-5p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372042	hsa-miR-103a	CLIP-seq
MIRT1372045	hsa-miR-135a	CLIP-seq
MIRT1372046	hsa-miR-135b	CLIP-seq
MIRT1372051	hsa-miR-3119	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372058	hsa-miR-320a	CLIP-seq
MIRT1372059	hsa-miR-320b	CLIP-seq
MIRT1372060	hsa-miR-320c	CLIP-seq
MIRT1372061	hsa-miR-320d	CLIP-seq
MIRT2333947	hsa-miR-329	CLIP-seq
MIRT2333948	hsa-miR-362-3p	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT2333949	hsa-miR-3941	CLIP-seq
MIRT1372080	hsa-miR-4429	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT2333950	hsa-miR-466	CLIP-seq
MIRT2333951	hsa-miR-4672	CLIP-seq
MIRT2333952	hsa-miR-4773	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372106	hsa-miR-544	CLIP-seq
MIRT2333953	hsa-miR-603	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372044	hsa-miR-1322	CLIP-seq
MIRT1372047	hsa-miR-190	CLIP-seq
MIRT1372048	hsa-miR-190b	CLIP-seq
MIRT2628159	hsa-miR-298	CLIP-seq
MIRT2628160	hsa-miR-30a	CLIP-seq
MIRT2628161	hsa-miR-30b	CLIP-seq
MIRT2628162	hsa-miR-30c	CLIP-seq
MIRT2628163	hsa-miR-30d	CLIP-seq
MIRT2628164	hsa-miR-30e	CLIP-seq
MIRT2628165	hsa-miR-3121-5p	CLIP-seq
MIRT1372052	hsa-miR-3136-5p	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372062	hsa-miR-323-5p	CLIP-seq
MIRT2333947	hsa-miR-329	CLIP-seq
MIRT2628166	hsa-miR-3591-3p	CLIP-seq
MIRT1372063	hsa-miR-3613-3p	CLIP-seq
MIRT2333948	hsa-miR-362-3p	CLIP-seq
MIRT1372066	hsa-miR-3650	CLIP-seq
MIRT2628167	hsa-miR-3653	CLIP-seq
MIRT2628168	hsa-miR-3658	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT2628169	hsa-miR-3678-3p	CLIP-seq
MIRT1372069	hsa-miR-3689a-5p	CLIP-seq
MIRT1372070	hsa-miR-3689b	CLIP-seq
MIRT1372071	hsa-miR-3689e	CLIP-seq
MIRT1372072	hsa-miR-3689f	CLIP-seq
MIRT2628170	hsa-miR-374c	CLIP-seq
MIRT2333949	hsa-miR-3941	CLIP-seq
MIRT1372075	hsa-miR-3977	CLIP-seq
MIRT1372079	hsa-miR-433	CLIP-seq
MIRT1372081	hsa-miR-4439	CLIP-seq
MIRT1372083	hsa-miR-4474-5p	CLIP-seq
MIRT1372085	hsa-miR-4513	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT2333950	hsa-miR-466	CLIP-seq
MIRT2333951	hsa-miR-4672	CLIP-seq
MIRT1372092	hsa-miR-4694-3p	CLIP-seq
MIRT1372094	hsa-miR-4719	CLIP-seq
MIRT2628171	hsa-miR-4731-3p	CLIP-seq
MIRT2628172	hsa-miR-4801	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT2628173	hsa-miR-485-3p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372104	hsa-miR-515-5p	CLIP-seq
MIRT1372105	hsa-miR-522	CLIP-seq
MIRT2628174	hsa-miR-548a-5p	CLIP-seq
MIRT2628175	hsa-miR-548aa	CLIP-seq
MIRT2628176	hsa-miR-548ab	CLIP-seq
MIRT2628177	hsa-miR-548ak	CLIP-seq
MIRT2628178	hsa-miR-548b-5p	CLIP-seq
MIRT2628179	hsa-miR-548c-5p	CLIP-seq
MIRT2628180	hsa-miR-548d-5p	CLIP-seq
MIRT2628181	hsa-miR-548h	CLIP-seq
MIRT2628182	hsa-miR-548i	CLIP-seq
MIRT2628183	hsa-miR-548j	CLIP-seq
MIRT2628184	hsa-miR-548n	CLIP-seq
MIRT2628185	hsa-miR-548t	CLIP-seq
MIRT2628186	hsa-miR-548w	CLIP-seq
MIRT2628187	hsa-miR-548y	CLIP-seq
MIRT1372108	hsa-miR-554	CLIP-seq
MIRT2628188	hsa-miR-555	CLIP-seq
MIRT2628189	hsa-miR-559	CLIP-seq
MIRT2333953	hsa-miR-603	CLIP-seq
MIRT2628190	hsa-miR-655	CLIP-seq
MIRT1372116	hsa-miR-876-3p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq
MIRT1372044	hsa-miR-1322	CLIP-seq
MIRT1372047	hsa-miR-190	CLIP-seq
MIRT1372048	hsa-miR-190b	CLIP-seq
MIRT2628159	hsa-miR-298	CLIP-seq
MIRT2628160	hsa-miR-30a	CLIP-seq
MIRT2628161	hsa-miR-30b	CLIP-seq
MIRT2628162	hsa-miR-30c	CLIP-seq
MIRT2628163	hsa-miR-30d	CLIP-seq
MIRT2628164	hsa-miR-30e	CLIP-seq
MIRT2628165	hsa-miR-3121-5p	CLIP-seq
MIRT1372052	hsa-miR-3136-5p	CLIP-seq
MIRT1372057	hsa-miR-3200-5p	CLIP-seq
MIRT1372062	hsa-miR-323-5p	CLIP-seq
MIRT2333947	hsa-miR-329	CLIP-seq
MIRT2628166	hsa-miR-3591-3p	CLIP-seq
MIRT1372063	hsa-miR-3613-3p	CLIP-seq
MIRT2333948	hsa-miR-362-3p	CLIP-seq
MIRT1372066	hsa-miR-3650	CLIP-seq
MIRT2628167	hsa-miR-3653	CLIP-seq
MIRT2628168	hsa-miR-3658	CLIP-seq
MIRT1372067	hsa-miR-3660	CLIP-seq
MIRT2628169	hsa-miR-3678-3p	CLIP-seq
MIRT1372069	hsa-miR-3689a-5p	CLIP-seq
MIRT1372070	hsa-miR-3689b	CLIP-seq
MIRT1372071	hsa-miR-3689e	CLIP-seq
MIRT1372072	hsa-miR-3689f	CLIP-seq
MIRT2628170	hsa-miR-374c	CLIP-seq
MIRT2333949	hsa-miR-3941	CLIP-seq
MIRT1372079	hsa-miR-433	CLIP-seq
MIRT1372081	hsa-miR-4439	CLIP-seq
MIRT1372085	hsa-miR-4513	CLIP-seq
MIRT1372087	hsa-miR-4526	CLIP-seq
MIRT2333950	hsa-miR-466	CLIP-seq
MIRT2333951	hsa-miR-4672	CLIP-seq
MIRT1372092	hsa-miR-4694-3p	CLIP-seq
MIRT2628171	hsa-miR-4731-3p	CLIP-seq
MIRT2628172	hsa-miR-4801	CLIP-seq
MIRT1372101	hsa-miR-4804-3p	CLIP-seq
MIRT2628173	hsa-miR-485-3p	CLIP-seq
MIRT1372103	hsa-miR-512-5p	CLIP-seq
MIRT1372105	hsa-miR-522	CLIP-seq
MIRT2628174	hsa-miR-548a-5p	CLIP-seq
MIRT2628175	hsa-miR-548aa	CLIP-seq
MIRT2628176	hsa-miR-548ab	CLIP-seq
MIRT2628177	hsa-miR-548ak	CLIP-seq
MIRT2628178	hsa-miR-548b-5p	CLIP-seq
MIRT2628179	hsa-miR-548c-5p	CLIP-seq
MIRT2628180	hsa-miR-548d-5p	CLIP-seq
MIRT2628181	hsa-miR-548h	CLIP-seq
MIRT2628182	hsa-miR-548i	CLIP-seq
MIRT2628183	hsa-miR-548j	CLIP-seq
MIRT2628184	hsa-miR-548n	CLIP-seq
MIRT2628185	hsa-miR-548t	CLIP-seq
MIRT2628186	hsa-miR-548w	CLIP-seq
MIRT2628187	hsa-miR-548y	CLIP-seq
MIRT2628188	hsa-miR-555	CLIP-seq
MIRT2628189	hsa-miR-559	CLIP-seq
MIRT2333953	hsa-miR-603	CLIP-seq
MIRT2628190	hsa-miR-655	CLIP-seq
MIRT1372116	hsa-miR-876-3p	CLIP-seq
MIRT1372117	hsa-miR-9	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000228	Component	Nuclear chromosome	TAS	9435219
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	NAS	12192000
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	TAS	9435219
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0003713	Function	Transcription coactivator activity	TAS	9435219
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12192000, 12917342, 15985610, 16051670, 16919237, 17363140, 21516116, 24981860, 25416956, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006337	Process	Nucleosome disassembly	TAS	9435219
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 17920018, 18809673
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9435219
GO:0007399	Process	Nervous system development	IEA
GO:0008080	Function	N-acetyltransferase activity	IDA	12192000
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 11078522
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0016922	Function	Nuclear receptor binding	IBA
GO:0016922	Function	Nuclear receptor binding	IPI	17363140
GO:0022008	Process	Neurogenesis	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12192000
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	IEA
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	IEA
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0140092	Component	BBAF complex	NAS	12368262
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	19279220
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

MIM	HGNC	e!Ensembl
603111	11109	ENSG00000073584

Q969G3

Protein name

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 (BRG1-associated factor 57) (BAF57)

Protein function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromati

PDB

6LTH , 6LTJ , 7CYU , 7VDV , 7Y8R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00505	HMG_box	66 → 134	HMG (high mobility group) box	Domain

Sequence

MSKRPSYAPPPTPAPATQMPSTPGFVGYNPYSHLAYNNYRLGGNPGTNSRVTASSGITIP
KPPKPPDKPLMPYMRYSRKVWDQVKASNPDLKLWEIGKIIGGMWRDLTDEEKQEYLNEYE
AEKIEYNESMKAYHNSPAYLAYINAKSRAEAALEEESRQRQSRMEKGEPYMSIQPAEDPD
DYDDGFSMKHTATARFQRNHRLISEILSESVVPDVRSVVTTARMQVLKRQVQSLMVHQRK
LEAELLQIEERHQEKKRKFLESTDSFNNELKRLCGLKVEVDMEKIAAEIAQAEEQARKRQ
EEREKEAAEQAERSQSSIVPEEEQAANKGEEKKDDENIPMETEETHLEETTESQQNGEEG
TSTPEDKESGQEGVDSMAEEGTSDSNTGSESNSATVEEPPTDPIPEDEKKE

Sequence length

411

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma		RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

1323

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Coffin-Siris syndrome 5	Pathogenic; Likely pathogenic	rs797045990, rs387906857, rs1555605795, rs1426841589	RCV005600804 RCV000211089 RCV000023251 RCV000677665 RCV000824687
Familial meningioma	Likely pathogenic; Pathogenic	rs2143988221, rs2143988635, rs2143997220, rs1251821702, rs2037146593, rs2143985266, rs2143996133, rs2143988272, rs2143986851, rs2144009190, rs2143997316, rs2143996366, rs2143988301, rs2508598549, rs2508598327 View all (19 more)	RCV001378606 RCV001378947 RCV001378840 RCV001381755 RCV002027877 RCV002042424 RCV001926765 RCV001984921 RCV001936109 RCV001982899 RCV001983042 RCV003126244 RCV003526157 RCV003526149 RCV002466948 RCV000194068 RCV003025897 RCV000231727 RCV003447701 RCV003447716 RCV003525758 RCV003639474 RCV003640292 RCV003837972 RCV005100440 RCV001389940 RCV000193407 RCV000466082 RCV000532842 RCV000638929 RCV000049253 RCV001068256 RCV003526033 RCV001230520 RCV001226002
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs1251821702, rs2143996133, rs2143997316, rs2143996366, rs2508603762, rs2143988301, rs2508598549, rs2143986798, rs2508604717, rs2508597255, rs2508595907, rs2508604703, rs2508604668, rs1057518166, rs1555605752, rs397509405 View all (1 more)	RCV004037651 RCV005278974 RCV002324410 RCV002333702 RCV002323481 RCV002377938 RCV002351922 RCV002421434 RCV003310807 RCV003310816 RCV003382145 RCV003382146 RCV004508449 RCV005492822 RCV000568108 RCV003162427
Medulloblastoma non-WNT/non-SHH group 3	Pathogenic	rs2143997365	RCV006254278
Tessier cleft	Pathogenic	rs2143997365	RCV001526653

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs759870374	RCV005918618
Cholangiocarcinoma	Benign	rs757412	RCV005917961
Hepatocellular carcinoma	Benign	rs757412	RCV005917958
Intellectual disability	Uncertain significance	rs2037096557	RCV001260867
Malignant lymphoma, large B-cell, diffuse	Benign	rs757412	RCV005917959
Melanoma	-	rs2143987097	RCV005922717
Meningioma	Benign; Likely benign; -	rs149613910, rs1240295309	RCV005361414 RCV005648399
Ovarian serous cystadenocarcinoma	Benign	rs759870374	RCV005918619
Rhabdoid tumor predisposition syndrome 1	Benign; Likely benign	rs62622817, rs773720929, rs767262463, rs374977780	RCV003316259 RCV003316599 RCV003316703 RCV003316704
SMARCB1-related schwannomatosis	Benign; Likely benign	rs62622817, rs755995632, rs773720929, rs201484943, rs767262463	RCV005235158 RCV005235319 RCV005235318 RCV005235396 RCV005235395
SMARCE1-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs1178049897, rs142193069, rs143363725, rs148373393, rs2508606741, rs2508598345, rs1295234583, rs773059312, rs148666451, rs755995632, rs765354113, rs542193901, rs776664220, rs773859296, rs376628666 View all (7 more)	RCV003920909 RCV003919952 RCV003897543 RCV003947771 RCV003391374 RCV003400077 RCV003911789 RCV003899963 RCV003925344 RCV003902673 RCV003409621 RCV003409620 RCV003899964 RCV003932709 RCV003942786 RCV004752938 RCV003960302 RCV003962638 RCV003392480 RCV003403472 RCV004731005 RCV003895376
Uterine carcinosarcoma	Benign	rs757412	RCV005917960
Uterine corpus endometrial carcinoma	Likely benign	rs113326396	RCV005919157

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	16538531, 16769725, 18332872
Carcinogenesis	Inhibit	16135788
Carcinoma Hepatocellular	Associate	28740345
Carcinoma Hepatocellular	Inhibit	31611549
Carcinoma Non Small Cell Lung	Associate	25656847
Cell Transformation Neoplastic	Associate	16135788
Coffin Siris syndrome	Associate	30548424, 34180430
Diabetes Mellitus Type 1	Associate	22403184
Endometrial Neoplasms	Associate	25611552
Familial cylindromatosis	Stimulate	16135788
Glioma	Associate	35044082
Hemangioma Cavernous Central Nervous System	Associate	37164167
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	19091943
Lung Diseases	Stimulate	23493350
Lung Neoplasms	Associate	25656847
Lymphedema	Associate	30548424
Meningioma	Inhibit	28474749
Meningioma	Associate	28759666, 29409008, 33319313, 37164167
Mental Retardation X Linked Syndromic Christianson Type	Associate	30548424, 34653234
Myoepithelioma	Associate	25223915
Neoplasms	Associate	16135788, 17591932, 19091943, 25656847
Neoplasms	Inhibit	16538531, 33319313
Neoplasms	Stimulate	23493350
Ovarian Neoplasms	Associate	25611552
Pancreatitis	Associate	22403184
Progesterone Resistance	Associate	17591932
Prostate Cancer Hereditary 8	Associate	37164167
Prostatic Neoplasms	Stimulate	23493350
Spinal Diseases	Associate	37164167
Stomach Neoplasms	Associate	36916408
Tertiary Lymphoid Structures	Stimulate	23493350

SMARCE1 (SWI/SNF related BAF chromatin remodeling complex subunit E1)