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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6597
Gene name Gene Name - the full gene name approved by the HGNC.	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SMARCA4
Synonyms (NCBI Gene) Gene synonyms aliases	BAF190, BAF190A, BRG1, CSS4, MRD16, OTSC12, RTPS2, SNF2, SNF2-beta, SNF2L4, SNF2LB, SWI2, hSNF2b
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by alt

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SNP ID	Visualize variation	Clinical significance	Consequence
rs115992445	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs117611401	C>A,G,T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs141259126	C>A,G,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs141806282	T>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs145867502	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs182644267	G>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs199847974	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs267607070	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs281875226	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs281875227	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs281875228	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs281875229	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs281875230	C>G	Pathogenic, not-provided	Missense variant, coding sequence variant, non coding transcript variant
rs372319442	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs372410282	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs376775933	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs573885719	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs587777460	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587777461	G>A	Pathogenic	Splice donor variant
rs587777462	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs587777463	C>A,G,T	Uncertain-significance, pathogenic	Intron variant
rs587777464	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587779750	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs758517117	C>A,T	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs770014321	C>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs770680174	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs780424104	AG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797044856	G>C	Likely-pathogenic	Splice donor variant
rs797045980	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045982	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs797045984	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs797045987	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs869312964	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs876657378	AAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs878854224	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs898406635	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs972341316	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1057518049	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs1057521113	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057524208	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057524559	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1060499936	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1060502085	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1060502086	G>C,T	Likely-pathogenic, uncertain-significance	Splice donor variant, intron variant
rs1060502088	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1060502102	G>A	Likely-pathogenic	Splice acceptor variant
rs1064794284	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064794535	AGTACT>GGC	Likely-pathogenic	Coding sequence variant, inframe indel, non coding transcript variant
rs1064795105	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064795161	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064796254	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1064796885	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1085307556	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1085307769	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1131691371	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1295192121	C>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs1342399494	AGAA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1469271544	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1475054297	T>A,C	Likely-pathogenic	Splice donor variant
rs1489795776	T>A,C	Pathogenic	Splice donor variant
rs1555754177	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555754293	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555755067	CCGCA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555756326	TGA>-	Pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1555757738	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555763642	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs1555763780	AAAA>-,A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, inframe deletion
rs1555771571	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555773269	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555774631	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555774702	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555774786	G>A	Likely-pathogenic	Splice donor variant
rs1555778709	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555778812	T>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555778828	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555784468	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555784586	G>A,C	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555785054	G>A	Likely-pathogenic	Splice donor variant
rs1555785056	T>C	Likely-pathogenic	Splice donor variant
rs1555787120	GG>C	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555795091	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555795884	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568419675	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568422286	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568430280	A>C	Likely-pathogenic	Splice acceptor variant
rs1568455217	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1568462513	A>G	Likely-pathogenic	Splice acceptor variant
rs1568486679	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1568498107	G>T	Likely-pathogenic	Splice acceptor variant
rs1599941421	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1599942345	T>G	Likely-pathogenic	Splice donor variant
rs1600068013	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600082188	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600278307	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600300837	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600301361	G>T	Likely-pathogenic	Splice donor variant
rs1600335765	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600365455	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600388982	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1600389034	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1600394246	G>C	Likely-pathogenic	Intron variant, splice donor variant
rs1600407324	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600644179	TGACAGTGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1600644640	G>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006516	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21317927
MIRT006516	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21317927
MIRT006516	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21317927
MIRT006516	hsa-miR-21-5p	Luciferase reporter assay, qRT-PCR, Western blot	21317927
MIRT020993	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT025405	hsa-miR-34a-5p	Proteomics	21566225
MIRT025405	hsa-miR-34a-5p	Proteomics	21566225
MIRT025405	hsa-miR-34a-5p	Proteomics	21566225
MIRT027823	hsa-miR-98-5p	Microarray	19088304
MIRT032484	hsa-let-7b-5p	Proteomics	18668040
MIRT032484	hsa-let-7b-5p	CLASH	23622248
MIRT051309	hsa-miR-16-5p	CLASH	23622248
MIRT046781	hsa-miR-222-3p	CLASH	23622248
MIRT039649	hsa-miR-615-3p	CLASH	23622248
MIRT039649	hsa-miR-615-3p	CLASH	23622248
MIRT039649	hsa-miR-615-3p	CLASH	23622248
MIRT038217	hsa-miR-342-5p	CLASH	23622248
MIRT020993	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT020993	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT731821	hsa-miR-139-5p	Northern blot, qRT-PCR, Western blot	27605510
MIRT731821	hsa-miR-139-5p	Northern blot, qRT-PCR, Western blot	27605510
MIRT020993	hsa-miR-155-5p	qRT-PCR, Western blot	28251496
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT1371448	hsa-miR-1299	CLIP-seq
MIRT1371449	hsa-miR-3145-5p	CLIP-seq
MIRT1371450	hsa-miR-3184	CLIP-seq
MIRT1371451	hsa-miR-3691-3p	CLIP-seq
MIRT1371452	hsa-miR-423-5p	CLIP-seq
MIRT1371453	hsa-miR-4283	CLIP-seq
MIRT1371454	hsa-miR-4639-5p	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371457	hsa-miR-4753-5p	CLIP-seq
MIRT1371458	hsa-miR-4766-5p	CLIP-seq
MIRT1371459	hsa-miR-508-5p	CLIP-seq
MIRT1371460	hsa-miR-875-3p	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT2110191	hsa-miR-101	CLIP-seq
MIRT2110192	hsa-miR-1825	CLIP-seq
MIRT2110193	hsa-miR-184	CLIP-seq
MIRT2110194	hsa-miR-199a-5p	CLIP-seq
MIRT2110195	hsa-miR-199b-5p	CLIP-seq
MIRT2110196	hsa-miR-208a	CLIP-seq
MIRT2110197	hsa-miR-208b	CLIP-seq
MIRT2110198	hsa-miR-296-5p	CLIP-seq
MIRT2110199	hsa-miR-3117-5p	CLIP-seq
MIRT2110200	hsa-miR-3163	CLIP-seq
MIRT2110201	hsa-miR-323b-3p	CLIP-seq
MIRT2110202	hsa-miR-3617	CLIP-seq
MIRT2110203	hsa-miR-3661	CLIP-seq
MIRT2110204	hsa-miR-3913-3p	CLIP-seq
MIRT2110205	hsa-miR-4256	CLIP-seq
MIRT2110206	hsa-miR-4266	CLIP-seq
MIRT2110207	hsa-miR-4285	CLIP-seq
MIRT2110208	hsa-miR-4695-5p	CLIP-seq
MIRT2110209	hsa-miR-4707-5p	CLIP-seq
MIRT2110210	hsa-miR-4779	CLIP-seq
MIRT2110211	hsa-miR-4804-5p	CLIP-seq
MIRT2110212	hsa-miR-489	CLIP-seq
MIRT2110213	hsa-miR-499-5p	CLIP-seq
MIRT2110214	hsa-miR-514	CLIP-seq
MIRT2110215	hsa-miR-514b-3p	CLIP-seq
MIRT2110216	hsa-miR-631	CLIP-seq
MIRT2110217	hsa-miR-641	CLIP-seq
MIRT2110218	hsa-miR-765	CLIP-seq
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT2110191	hsa-miR-101	CLIP-seq
MIRT2333770	hsa-miR-1202	CLIP-seq
MIRT2333771	hsa-miR-1278	CLIP-seq
MIRT2333772	hsa-miR-132	CLIP-seq
MIRT2110192	hsa-miR-1825	CLIP-seq
MIRT2333773	hsa-miR-191	CLIP-seq
MIRT2333774	hsa-miR-1910	CLIP-seq
MIRT2110194	hsa-miR-199a-5p	CLIP-seq
MIRT2110195	hsa-miR-199b-5p	CLIP-seq
MIRT2333775	hsa-miR-212	CLIP-seq
MIRT2110198	hsa-miR-296-5p	CLIP-seq
MIRT2110199	hsa-miR-3117-5p	CLIP-seq
MIRT1371449	hsa-miR-3145-5p	CLIP-seq
MIRT2110200	hsa-miR-3163	CLIP-seq
MIRT2333776	hsa-miR-3194-5p	CLIP-seq
MIRT2110201	hsa-miR-323b-3p	CLIP-seq
MIRT2110203	hsa-miR-3661	CLIP-seq
MIRT2333777	hsa-miR-3688-3p	CLIP-seq
MIRT1371451	hsa-miR-3691-3p	CLIP-seq
MIRT2110204	hsa-miR-3913-3p	CLIP-seq
MIRT2333778	hsa-miR-3960	CLIP-seq
MIRT2333779	hsa-miR-3972	CLIP-seq
MIRT2110205	hsa-miR-4256	CLIP-seq
MIRT2110207	hsa-miR-4285	CLIP-seq
MIRT2333780	hsa-miR-4328	CLIP-seq
MIRT2333781	hsa-miR-452	CLIP-seq
MIRT1371454	hsa-miR-4639-5p	CLIP-seq
MIRT2333782	hsa-miR-4676-3p	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT2333783	hsa-miR-4693-5p	CLIP-seq
MIRT2333784	hsa-miR-4699-5p	CLIP-seq
MIRT2110209	hsa-miR-4707-5p	CLIP-seq
MIRT2333785	hsa-miR-4709-5p	CLIP-seq
MIRT2333786	hsa-miR-4718	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371457	hsa-miR-4753-5p	CLIP-seq
MIRT2333787	hsa-miR-4775	CLIP-seq
MIRT2333788	hsa-miR-4789-5p	CLIP-seq
MIRT2110212	hsa-miR-489	CLIP-seq
MIRT1371459	hsa-miR-508-5p	CLIP-seq
MIRT2110214	hsa-miR-514	CLIP-seq
MIRT2110215	hsa-miR-514b-3p	CLIP-seq
MIRT2333789	hsa-miR-556-3p	CLIP-seq
MIRT2333790	hsa-miR-568	CLIP-seq
MIRT2333791	hsa-miR-582-5p	CLIP-seq
MIRT2333792	hsa-miR-606	CLIP-seq
MIRT2110216	hsa-miR-631	CLIP-seq
MIRT2333793	hsa-miR-7	CLIP-seq
MIRT2333794	hsa-miR-942	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT2394856	hsa-miR-155	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371458	hsa-miR-4766-5p	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT1371447	hsa-miR-100	CLIP-seq
MIRT1371448	hsa-miR-1299	CLIP-seq
MIRT1371454	hsa-miR-4639-5p	CLIP-seq
MIRT1371455	hsa-miR-4686	CLIP-seq
MIRT1371456	hsa-miR-4738-3p	CLIP-seq
MIRT1371457	hsa-miR-4753-5p	CLIP-seq
MIRT1371460	hsa-miR-875-3p	CLIP-seq
MIRT1371461	hsa-miR-99a	CLIP-seq
MIRT1371462	hsa-miR-99b	CLIP-seq
MIRT2110191	hsa-miR-101	CLIP-seq
MIRT2691412	hsa-miR-144	CLIP-seq
MIRT2110198	hsa-miR-296-5p	CLIP-seq
MIRT2110200	hsa-miR-3163	CLIP-seq
MIRT2110201	hsa-miR-323b-3p	CLIP-seq
MIRT2110203	hsa-miR-3661	CLIP-seq
MIRT2110205	hsa-miR-4256	CLIP-seq
MIRT2110206	hsa-miR-4266	CLIP-seq
MIRT2110207	hsa-miR-4285	CLIP-seq
MIRT2110208	hsa-miR-4695-5p	CLIP-seq
MIRT2110209	hsa-miR-4707-5p	CLIP-seq
MIRT2110210	hsa-miR-4779	CLIP-seq
MIRT2110216	hsa-miR-631	CLIP-seq
MIRT2110218	hsa-miR-765	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
STAT1	Unknown	16195385

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	17938176, 19149898
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	12065415, 15774904
GO:0000785	Component	Chromatin	NAS	12192000, 29374058
GO:0001164	Function	RNA polymerase I core promoter sequence-specific DNA binding	IDA	22368283
GO:0001188	Process	RNA polymerase I preinitiation complex assembly	IEA
GO:0001221	Function	Transcription coregulator binding	IPI	14701856, 22368283
GO:0001650	Component	Fibrillar center	IDA
GO:0002039	Function	P53 binding	IPI	11950834
GO:0003407	Process	Neural retina development	IEP	18816825
GO:0003677	Function	DNA binding	IBA
GO:0003682	Function	Chromatin binding	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	11950834, 15774904
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IMP	16687403
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0003714	Function	Transcription corepressor activity	IDA	18487222, 20418909
GO:0003723	Function	RNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	8208605
GO:0005515	Function	Protein binding	IPI	10078207, 11726552, 11780067, 11988099, 12065415, 12192000, 12200431, 12368262, 12917342, 14701856, 15985610, 16051670, 16687403, 17984088, 18303029, 19149898, 19571879, 20224553, 20418909, 22140357, 23022380, 23540691, 24434208, 24550003, 24981860, 28420882, 28514442, 28649782, 301
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8232556, 11726552, 20418909, 22368283, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	34910916
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	22368283
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IC	18816825
GO:0006338	Process	Chromatin remodeling	IDA	10943845, 11726552
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	IMP	22368283
GO:0006338	Process	Chromatin remodeling	NAS	10078207, 29374058
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17340523, 17920018, 18809673, 29374058
GO:0007399	Process	Nervous system development	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IGI	8232556
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	29374058
GO:0016020	Component	Membrane	HDA	19946888
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 8895581, 10943845, 11078522, 11950834, 29374058
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	19571879
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030308	Process	Negative regulation of cell growth	IMP	12065415
GO:0030957	Function	Tat protein binding	IPI	16687403
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0031507	Process	Heterochromatin formation	IBA
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0042393	Function	Histone binding	IEA
GO:0042802	Function	Identical protein binding	IPI	12917342, 35512704
GO:0043923	Process	Host-mediated activation of viral transcription	IMP	16687403
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045596	Process	Negative regulation of cell differentiation	NAS	30510198
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	ISS	34910916
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12065415
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	18487222
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	8208605
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11950834, 15774904, 17938176
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	8232556
GO:0050681	Function	Nuclear androgen receptor binding	IPI	18487222
GO:0060766	Process	Negative regulation of androgen receptor signaling pathway	IMP	18487222
GO:0070182	Function	DNA polymerase binding	IPI	19571879
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	IDA	18816825
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	34910916
GO:0140092	Component	BBAF complex	NAS	12368262
GO:0140288	Component	GBAF complex	NAS	29374058
GO:0140658	Function	ATP-dependent chromatin remodeler activity	ISS	34910916
GO:0140750	Function	Nucleosome array spacer activity	IBA
GO:1901798	Process	Positive regulation of signal transduction by p53 class mediator	IDA	17938176
GO:1901838	Process	Positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	22368283
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	19279220, 30510198
GO:1902661	Process	Positive regulation of glucose mediated signaling pathway	IDA	22368283
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	25569094
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
603254	11100	ENSG00000127616

Protein

UniProt ID

P51532

Protein name

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 (SMARCA4) (EC 3.6.4.-) (BRG1-associated factor 190A) (BAF190A) (Mitotic growth and transcription activator) (Protein BRG-1) (Protein brahma homolog 1) (SNF2-beta

Protein function

ATPase 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 c

PDB

2GRC , 2H60 , 3UVD , 5DKD , 5EA1 , 6BGH , 6HR2 , 6LTH , 6LTJ , 6SY2 , 6ZS2 , 7TAB , 7TD9 , 7VDT , 7VDV , 7VRB , 7Y8R , 8EB1 , 8G1Q , 8QJR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08880	QLQ	171 → 205	QLQ	Domain
PF07529	HSA	461 → 531	HSA	Domain
PF07533	BRK	611 → 654	BRK domain	Domain
PF00176	SNF2_N	728 → 1052	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	1080 → 1194	Helicase conserved C-terminal domain	Family
PF14619	SnAC	1322 → 1389	Snf2-ATP coupling, chromatin remodelling complex	Domain
PF00439	Bromodomain	1462 → 1551	Bromodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Colocalizes with ZEB1 in E-cadherin-negative cells from established lines, and stroma of normal colon as well as in de-differentiated epithelial cells at the invasion front of colorectal carcinomas (at protein level). {ECO:0000269|PubM

Sequence

MSTPDPPLGGTPRPGPSPGPGPSPGAMLGPSPGPSPGSAHSMMGPSPGPPSAGHPIPTQG
PGGYPQDNMHQMHKPMESMHEKGMSDDPRYNQMKGMGMRSGGHAGMGPPPSPMDQHSQGY
PSPLGGSEHASSPVPASGPSSGPQMSSGPGGAPLDGADPQALGQQNRGPTPFNQNQLHQL
RAQIMAYKMLARGQPLPDHLQMAVQGKRPMPGMQQQMPTLPPPSVSATGPGPGPGPGPGP
GPGPAPPNYSRPHGMGGPNMPPPGPSGVPPGMPGQPPGGPPKPWPEGPMANAAAPTSTPQ
KLIPPQPTGRPSPAPPAVPPAASPVMPPQTQSPGQPAQPAPMVPLHQKQSRITPIQKPRG
LDPVEILQEREYRLQARIAHRIQELENLPGSLAGDLRTKATIELKALRLLNFQRQLRQEV
VVCMRRDTALETALNAKAYKRSKRQSLREARITEKLEKQQKIEQERKRRQKHQEYLNSIL
QHAKDFKEYHRSVTGKIQKLTKAVATYHANTEREQKKENERIEKERMRRLMAEDEEGYRK
LIDQKKDKRLAYLLQQTDEYVANLTELVRQHKAAQVAKEKKKKKKKKKAENAEGQTPAIG
PDGEPLDETSQMSDLPVKVIHVESGKILTGTDAPKAGQLEAWLEMNPGYEVAPRSDSEES
GSEEEEEEEEEEQPQAAQPPTLPVEEKKKIPDPDSDDVSEVDARHIIENAKQDVDDEYGV
SQALARGLQSYYAVAHAVTERVDKQSALMVNGVLKQYQIKGLEWLVSLYNNNLNGILADE
MGLGKTIQTIALITYLMEHKRINGPFLIIVPLSTLSNWAYEFDKWAPSVVKVSYKGSPAA
RRAFVPQLRSGKFNVLLTTYEYIIKDKHILAKIRWKYMIVDEGHRMKNHHCKLTQVLNTH
YVAPRRLLLTGTPLQNKLPELWALLNFLLPTIFKSCSTFEQWFNAPFAMTGEKVDLNEEE
TILIIRRLHKVLRPFLLRRLKKEVEAQLPEKVEYVIKCDMSALQRVLYRHMQAKGVLLTD
GSEKDKKGKGGTKTLMNTIMQLRKICNHPYMFQHIEESFSEHLGFTGGIVQGLDLYRASG
KFELLDRILPKLRATNHKVLLFCQMTSLMTIMEDYFAYRGFKYLRLDGTTKAEDRGMLLK
TFNEPGSEYFIFLLSTRAGGLGLNLQSADTVIIFDSDWNPHQDLQAQDRAHRIGQQNEVR
VLRLCTVNSVEEKILAAAKYKLNVDQKVIQAGMFDQKSSSHERRAFLQAILEHEEQDESR
HCSTGSGSASFAHTAPPPAGVNPDLEEPPLKEEDEVPDDETVNQMIARHEEEFDLFMRMD
LDRRREEARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKMFGRGSRHRKEVDYS
DSLTEKQWLKAIEEGTLEEIEEEVRQKKSSRKRKRDSDAGSSTPTTSTRSRDKDDESKKQ
KKRGRPPAEKLSPNPPNLTKKMKKIVDAVIKYKDSSSGRQLSEVFIQLPSRKELPEYYEL
IRKPVDFKKIKERIRNHKYRSLNDLEKDVMLLCQNAQTFNLEGSLIYEDSIVLQSVFTSV
RQKIEKEDDSEGEESEEEEEGEEEGSESESRSVKVKIKLGRKEKAQDRLKGGRRRPSRGS
RAKPVVSDDDSEEEQEEDRSGSGSEED

Sequence length

1647

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma		Interleukin-7 signaling Formation of the beta-catenin:TCF transactivating complex RMTs methylate histone arginines Chromatin modifying enzymes RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known EGR2 and SOX10-mediated initiation of Schwann cell myelination

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
Developmental Delay	global developmental delay	rs2087029320	N/A
Mental retardation	Intellectual disability, autosomal dominant 16	rs770014321, rs1600082188, rs876657378, rs281875227, rs770680174, rs281875228, rs797045984, rs281875229, rs281875230, rs587779750, rs1060499936	N/A
neoplasm	Neoplasm	rs1568498107	N/A
Rhabdoid Tumor Predisposition Syndrome	rhabdoid tumor predisposition syndrome 2	rs1568419675, rs587777461, rs1060502085, rs1064796254, rs1555773269, rs2086888561, rs1568462513, rs587777462, rs1060502102, rs1600644640, rs1555774786, rs2087033635, rs1568455217, rs587777463, rs1064794284 View all (40 more)	N/A
Neuroblastoma	neuroblastoma	rs1469271544	N/A

Show/Hide Unknown Diseases (19)

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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Breast Cancer	Malignant tumor of breast	N/A	N/A	ClinVar
Coffin-Siris Syndrome	coffin-siris syndrome, Coffin-Siris syndrome 1, Coffin-Siris syndrome	N/A	N/A	ClinVar, GenCC
Colorectal Cancer	hereditary nonpolyposis colon cancer	N/A	N/A	GenCC
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Heart Failure	Heart failure	N/A	N/A	GWAS
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
Hyperlipidemia	Familial combined hyperlipidemia defined by Brunzell criteria	N/A	N/A	GWAS
Ischemic Stroke	Ischemic stroke	N/A	N/A	GWAS
Medulloblastoma	medulloblastoma	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Rhabdoid Tumor	familial rhabdoid tumor	N/A	N/A	GenCC
Sarcoma	uterine corpus sarcoma	N/A	N/A	GenCC
seizure	Seizure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (201)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Associate	27029062, 27223259
Adenocarcinoma	Inhibit	16998464
Adenocarcinoma	Associate	29522538, 30885352, 31208361, 31906887, 31988001, 33506581, 34432771, 35468657, 37054973, 40101550
Adenocarcinoma Clear Cell	Associate	37697729
Adenocarcinoma Mucinous	Associate	35900231
Adenocarcinoma of Lung	Associate	22975805, 30089603, 31987030, 32083571, 32460018, 32855269, 33107184, 33355651, 34240140, 34675941, 35964518, 40453096
Adenocarcinoma of Lung	Inhibit	23163725
Adenoma Pleomorphic	Associate	36178285
AIDS Dementia Complex	Associate	34205270
Alzheimer Disease	Associate	37895183
Anorectal Malformations	Associate	36474027
Aortic Dissection	Stimulate	26344687
Arthritis Rheumatoid	Associate	28002318, 29848990, 35479077
ATR X syndrome	Associate	39862081
Autism Spectrum Disorder	Associate	28714951, 32661233, 33799280
Autistic Disorder	Associate	37076741
Barrett Esophagus	Associate	37054973
Brachydactyly	Associate	30973214
Brain Neoplasms	Associate	33528916
Breast Neoplasms	Associate	14673169, 15141164, 23533649, 27029062, 27223259, 27390128, 27506935, 30309986, 33692124, 34675941, 35152838
Breast Neoplasms	Inhibit	20333683
Breast Neoplasms Male	Associate	38369186
Burkitt Lymphoma	Associate	23143597, 35794096
Carcinogenesis	Associate	14673169, 21940037, 29750276, 31018240, 33596994, 36902184
Carcinoid Tumor	Associate	38237798
Carcinoma	Associate	28084340, 28731042, 29700418, 31190001, 31751681, 31954538, 32972432, 33481850, 34949765, 35151345, 35278076, 37115272, 37194064, 38059551, 38124509, 38306886, 40275321 View all (2 more)
Carcinoma Endometrioid	Associate	28417598
Carcinoma Hepatocellular	Inhibit	24556940
Carcinoma Hepatocellular	Associate	24556940, 28622513, 28700662, 28901494, 29427621, 34083693
Carcinoma Hepatocellular	Stimulate	29352111
Carcinoma Large Cell	Associate	35307773
Carcinoma Neuroendocrine	Associate	16998464, 34871352
Carcinoma Non Small Cell Lung	Associate	24445599, 25918285, 26671993, 30972962, 31751681, 32709715, 33144586, 33407425, 35151345, 35278076, 35468657, 35747993, 35964518, 36126963, 37184108 View all (5 more)
Carcinoma Non Small Cell Lung	Inhibit	37387441
Carcinoma Papillary	Associate	28731042
Carcinoma Renal Cell	Associate	23792563, 24817979, 28731045, 31208361, 31751681, 37387441
Carcinoma Renal Cell	Inhibit	36178285
Carcinoma Small Cell	Associate	24375037, 24658001, 24658004, 25886974, 26356327, 26546963, 26645725, 26975901, 27866340, 28608987, 29365144, 29700418, 30275002, 31190001, 31844183 View all (10 more)
Carcinoma Small Cell	Inhibit	26564006, 33331994
Carcinoma Squamous Cell	Inhibit	16998464
Cardiomyopathy Dilated	Stimulate	26344687
Cardiovascular Diseases	Associate	28515798
Celiac Disease	Associate	33362776
Cell Transformation Neoplastic	Associate	16135788
Cerebral Hemorrhage	Associate	32474671
Cerebral Infarction	Associate	24190014
Cholangiocarcinoma	Associate	33200197, 35986087
Chondroma	Associate	35151345
Clear cell metastatic renal cell carcinoma	Associate	34980496
Cleft Lip	Associate	35385219
Coffin Siris syndrome	Associate	28608987, 30459321, 30973214, 31160358, 33799280, 34180430, 34205270, 36474027
Colitis Ulcerative	Associate	28524162
Colorectal Neoplasms	Associate	21102582, 25058500, 35590122, 35900231
Complement Factor I Deficiency	Associate	27101785
Congenital Abnormalities	Associate	30973214, 36849876
Coronary Artery Disease	Associate	20810930, 24190014, 24219970, 24902015
Coronary Artery Disease	Inhibit	24219970
Coronary Disease	Associate	28055962
Cough	Associate	30572461
COVID 19	Associate	36894709
Death	Inhibit	26671993
Death	Associate	31954538, 35151345
Dermatomyositis	Associate	12905483
Developmental Disabilities	Associate	28714951, 33799280, 34205270, 36849876
Diabetes Complications	Stimulate	26344687
Diabetes Mellitus	Associate	26344687
Dissection Thoracic Aorta	Stimulate	25304030
DNA Repair Deficiency Disorders	Stimulate	31727161
Duane Retraction Syndrome	Associate	31954538
Dysplastic Nevus Syndrome	Associate	23028750
Endometrial Neoplasms	Inhibit	26743474
Endometrial Neoplasms	Associate	27101785, 28863077, 36958196, 39811899
Esophageal Neoplasms	Associate	26812616, 31406271, 37054973
Esophageal Squamous Cell Carcinoma	Associate	26812616, 31406271, 35899307
Familial cylindromatosis	Associate	16135788, 31906887
Fanconi Anemia	Associate	22408259
Fibrosis	Associate	29427621, 36976650
Ganglioneuroma	Associate	35151345
Gastroesophageal Reflux	Associate	37054973
Gastrointestinal Stromal Tumors	Associate	28212550
Glioblastoma	Associate	27579614, 33528916, 37593885, 40133216
Glioma	Associate	22362300, 23276717, 29463646
Glioma	Stimulate	37094128
Glucocorticoid Receptor Deficiency	Associate	19066270
Granulosa cell tumor of the ovary	Associate	33355532
Growth Disorders	Associate	30973214
Guillain Barre Syndrome	Associate	29792595
Heart Defects Congenital	Associate	31160358, 35385219
Heart Diseases	Associate	31160358, 35748249
Hereditary leiomyomatosis and renal cell cancer	Associate	32191807
Histiocytosis Non Langerhans Cell	Associate	37228094
Hyperkinesis	Associate	33058778
Hyperlipoproteinemia Type II	Associate	24219970
Hypersensitivity Immediate	Inhibit	26564006
Hypersensitivity Immediate	Associate	26645725, 29700418, 31190001, 36813544
Hypersensitivity Immediate	Stimulate	33532948
Hypertension	Associate	31507094
Idiopathic Noncirrhotic Portal Hypertension	Associate	29427621
Idiopathic Pulmonary Fibrosis	Associate	38252663
Immunologic Deficiency Syndromes	Inhibit	31617320
Infections	Associate	29848589
Inflammation	Inhibit	28002318
Inflammation	Associate	35479077, 40131774
Intellectual Disability	Associate	30973214, 34706719
Kidney Failure Chronic	Associate	37270804, 37553608
Leukemia	Associate	19066270, 24285714
Leukemia Lymphocytic Chronic B Cell	Inhibit	28002318
Leukemia Lymphoma Adult T Cell	Associate	31142665
Leukemia Myeloid Acute	Associate	29298978, 31178587, 34042280
Leukemia Promyelocytic Acute	Associate	26997274
Liposarcoma	Associate	26743474, 27562491
Liver Cirrhosis	Associate	29427621
Liver Failure	Associate	29427621
Liver Failure	Stimulate	29427621
Lung Diseases	Associate	40158181, 40453096
Lung Neoplasms	Associate	23033341, 23163725, 24445599, 25355421, 26139243, 28256572, 30008631, 31617320, 32709715, 32855269, 33407425, 37387441
Lymphatic Metastasis	Associate	37184108
Lymphoma	Associate	31776129, 40275321
Lymphoma B Cell Marginal Zone	Associate	34952945
Lymphoma Large B Cell Diffuse	Associate	20664054
Lymphoma Mantle Cell	Associate	24682267
Malignant Teratocarcinosarcoma	Associate	34871352, 38201285
Malignant Teratocarcinosarcoma	Inhibit	35307773
Medulloblastoma	Associate	22820256, 22832583, 26290144, 31996670, 33331994
Melanoma	Inhibit	19149898
Melanoma	Associate	19784067, 20969766, 23028750, 23349796, 25026375, 26207740, 36317703
Melanoma Cutaneous Malignant	Associate	36317703
Meningioma	Associate	31470906
Microphthalmia Isolated with Cataract 1	Associate	28608987
Microphthalmos	Associate	28608987
Microsatellite Instability	Associate	34675941
Mitochondrial Diseases	Associate	37210563
Muscle Hypotonia	Associate	34205270
Myocardial Infarction	Associate	24475106, 29615549
Myositis	Associate	12905483
Necrosis	Associate	35468657, 40275321
Neoplasm Metastasis	Associate	20969766, 35590122, 36902184, 37054973, 37084736, 37184108, 40158181
Neoplasms	Associate	11719516, 16135788, 19149898, 19448667, 20137775, 20851996, 21102582, 21520050, 22139574, 22362300, 23355908, 23533649, 24336570, 24375037, 24445599 View all (85 more)
Neoplasms	Inhibit	14673169, 17938176, 18772145, 21317927, 23163725, 24285714, 24658001, 24993775, 25157878, 25271443, 25355421, 27188282, 27486753, 28002318, 28256572, 34042280, 37047493 View all (2 more)
Neoplasms	Stimulate	34836971
Neoplasms Multiple Primary	Associate	37932047
Neuhauser syndrome	Associate	33933102
Neurilemmoma	Associate	25494491
Neuroblastoma	Associate	31018240, 33211929, 36813544, 37186134, 37932047
Neuroendocrine Tumors	Associate	38124509
Nicolaides Baraitser syndrome	Associate	31375262
Non alcoholic Fatty Liver Disease	Associate	29427621
Non Muscle Invasive Bladder Neoplasms	Associate	39817975
Nonsyndromic Deafness	Associate	37054973
Oligodendroglioma	Associate	23276717
Osteosarcoma	Associate	38225273
Ovarian Diseases	Associate	25886974, 35775118
Ovarian Neoplasms	Associate	24375037, 25886974, 28417598, 31676783, 31844183, 33230143, 37272300, 37345881
Ovarian Neoplasms	Inhibit	32149361
Pancreatic Intraductal Neoplasms	Inhibit	21940037
Pancreatic Neoplasms	Inhibit	21940037
Pancreatic Neoplasms	Associate	22233809, 34375311
Parkinson Disease	Associate	38306886
Parotid Neoplasms	Associate	25886974
Personality Disorders	Associate	34980496
Peutz Jeghers Syndrome	Associate	11445556, 15756273
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	31776129
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	28671688, 37932047
Prostatic Neoplasms	Associate	27701467, 33144576, 33323379, 33596994, 36883553
Prostatic Neoplasms	Stimulate	40193710
Prostatic Neoplasms Castration Resistant	Associate	33323379
Pulmonary Emphysema	Associate	28256572
Respiratory Tract Infections	Associate	39513266
Retinal Dystrophies	Associate	30973214
Retinoblastoma	Associate	11719516, 20851996
Rhabdoid Tumor	Associate	20137775, 25494491, 26139243, 27866340, 28084340, 28256572, 29700418, 33331994, 33481850, 34432771
Rhabdoid Tumor Predisposition Syndrome 1	Associate	20137775, 35775118
Rhabdoid Tumor Predisposition Syndrome 1	Stimulate	33532948
Rhabdoid Tumor Predisposition Syndrome 2	Associate	25494491
Rhabdomyosarcoma	Associate	17468105, 34095712, 34836971
Sarcoma	Associate	28256572, 31190001, 31617320, 31751681, 34030451, 34432771, 35151345, 35468657, 36178285, 36813544
Sarcoma Alveolar Soft Part	Associate	30572461
Sarcoma Ewing	Associate	35151345
Sarcoma Synovial	Associate	26139243
Schimke immunoosseous dysplasia	Associate	22704558, 28334870
Sinonasal undifferentiated carcinoma	Associate	28084339, 28084340, 28176137, 32337786, 34871352, 35307773
Squamous Cell Carcinoma of Head and Neck	Associate	36902184
Stomach Diseases	Associate	37054973, 40275321
Stomach Neoplasms	Associate	30177679, 33481850, 33933102, 36916408
Stroke	Associate	24190014
Tauopathies	Associate	32661233
Thoracic Neoplasms	Associate	31751681, 38124509
Thrombophilia due to Activated Protein C Resistance	Associate	32661233
Thyroid Neoplasms	Associate	30272326, 32737449
Thyroiditis	Associate	29750276
Turcot syndrome	Associate	35241494
Typical Teratoid Rhabdoid Tumor	Associate	24375037, 33331994, 36813544, 37020038, 37450044
Uniparental Disomy	Inhibit	20137775
Urinary Bladder Neoplasms	Associate	24993775
Uterine Cervical Neoplasms	Associate	10082538, 34970085, 38178127
Vascular System Injuries	Stimulate	36976650
Ventricular Outflow Obstruction Left	Associate	27760138
Ventricular Outflow Obstruction Right	Associate	35385219
Ventricular Remodeling	Associate	36976650
Virus Diseases	Associate	29848589
Wilms Tumor	Associate	25190313

SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4)