SMARCD1 (SWI/SNF related BAF chromatin remodeling complex subunit D1)

Gene

• Entrez ID: 6602
• Gene name: SWI/SNF related BAF chromatin remodeling complex subunit D1
• Gene symbol: SMARCD1
• Synonyms (NCBI Gene): BAF60A, CRACD1, CSS11, Rsc6p
• Chromosome: 12
• Chromosome location: 12q13.12
• Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs372368908	C>A,T	Pathogenic	Non coding transcript variant, stop gained, genic downstream transcript variant, synonymous variant, coding sequence variant
rs1592289150	C>G	Pathogenic	Downstream transcript variant, genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs1592294569	A>G	Pathogenic	Genic downstream transcript variant, intron variant, non coding transcript variant, missense variant, coding sequence variant
rs1592295890	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1592295914	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025886	hsa-miR-7-5p	Sequencing	20371350
MIRT025886	hsa-miR-7-5p	Microarray	17612493
MIRT027347	hsa-miR-101-3p	Sequencing	20371350
MIRT032437	hsa-let-7b-5p	Proteomics	18668040
MIRT052651	hsa-miR-223-3p	Microarray, qRT-PCR	23757351
MIRT032437	hsa-let-7b-5p	CLASH	23622248
MIRT051748	hsa-let-7c-5p	CLASH	23622248
MIRT051748	hsa-let-7c-5p	CLASH	23622248
MIRT039323	hsa-miR-425-5p	CLASH	23622248
MIRT037419	hsa-miR-744-5p	CLASH	23622248
MIRT054259	hsa-miR-490-3p	ChIP-seq, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	25503559
MIRT054259	hsa-miR-490-3p	ChIP-seq, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	25503559
MIRT025886	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT054259	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT273384	hsa-miR-8066	PAR-CLIP	20371350
MIRT273382	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT273383	hsa-miR-3185	PAR-CLIP	20371350
MIRT467555	hsa-miR-3975	PAR-CLIP	20371350
MIRT467554	hsa-miR-2467-5p	PAR-CLIP	20371350
MIRT467553	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT467552	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT467551	hsa-miR-3188	PAR-CLIP	20371350
MIRT467550	hsa-miR-6077	PAR-CLIP	20371350
MIRT467549	hsa-miR-4316	PAR-CLIP	20371350
MIRT467548	hsa-miR-1294	PAR-CLIP	20371350
MIRT025886	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT054259	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT273384	hsa-miR-8066	PAR-CLIP	20371350
MIRT273382	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT273383	hsa-miR-3185	PAR-CLIP	20371350
MIRT467555	hsa-miR-3975	PAR-CLIP	20371350
MIRT467554	hsa-miR-2467-5p	PAR-CLIP	20371350
MIRT467553	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT467552	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT467551	hsa-miR-3188	PAR-CLIP	20371350
MIRT467550	hsa-miR-6077	PAR-CLIP	20371350
MIRT467549	hsa-miR-4316	PAR-CLIP	20371350
MIRT467548	hsa-miR-1294	PAR-CLIP	20371350
MIRT467558	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT113314	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT113317	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT113301	hsa-miR-940	PAR-CLIP	23592263
MIRT467557	hsa-miR-9500	PAR-CLIP	23592263
MIRT467556	hsa-miR-4719	PAR-CLIP	23592263
MIRT025886	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT054259	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT273384	hsa-miR-8066	PAR-CLIP	23592263
MIRT273382	hsa-miR-619-3p	PAR-CLIP	23592263
MIRT273383	hsa-miR-3185	PAR-CLIP	23592263
MIRT467555	hsa-miR-3975	PAR-CLIP	23592263
MIRT467554	hsa-miR-2467-5p	PAR-CLIP	23592263
MIRT467553	hsa-miR-485-5p	PAR-CLIP	23592263
MIRT467552	hsa-miR-6884-5p	PAR-CLIP	23592263
MIRT467551	hsa-miR-3188	PAR-CLIP	23592263
MIRT467550	hsa-miR-6077	PAR-CLIP	23592263
MIRT467549	hsa-miR-4316	PAR-CLIP	23592263
MIRT467548	hsa-miR-1294	PAR-CLIP	23592263
MIRT467547	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT467546	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT467545	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT467544	hsa-miR-4459	PAR-CLIP	23592263
MIRT467543	hsa-miR-665	PAR-CLIP	23592263
MIRT467542	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT113304	hsa-miR-1827	PAR-CLIP	23592263
MIRT467541	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT467540	hsa-miR-4327	PAR-CLIP	23592263
MIRT467539	hsa-miR-3612	PAR-CLIP	23592263
MIRT467538	hsa-miR-650	PAR-CLIP	23592263
MIRT467537	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT467536	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT467535	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT025886	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, Western blot	26542803
MIRT467548	hsa-miR-1294	PAR-CLIP	26701625
MIRT467548	hsa-miR-1294	PAR-CLIP	26701625
MIRT467548	hsa-miR-1294	PAR-CLIP	26701625
MIRT467554	hsa-miR-2467-5p	PAR-CLIP	26701625
MIRT467554	hsa-miR-2467-5p	PAR-CLIP	26701625
MIRT467554	hsa-miR-2467-5p	PAR-CLIP	26701625
MIRT273383	hsa-miR-3185	PAR-CLIP	26701625
MIRT273383	hsa-miR-3185	PAR-CLIP	26701625
MIRT273383	hsa-miR-3185	PAR-CLIP	26701625
MIRT467551	hsa-miR-3188	PAR-CLIP	26701625
MIRT467551	hsa-miR-3188	PAR-CLIP	26701625
MIRT467551	hsa-miR-3188	PAR-CLIP	26701625
MIRT467555	hsa-miR-3975	PAR-CLIP	26701625
MIRT467555	hsa-miR-3975	PAR-CLIP	26701625
MIRT467555	hsa-miR-3975	PAR-CLIP	26701625
MIRT467549	hsa-miR-4316	PAR-CLIP	26701625
MIRT467549	hsa-miR-4316	PAR-CLIP	26701625
MIRT467549	hsa-miR-4316	PAR-CLIP	26701625
MIRT467553	hsa-miR-485-5p	PAR-CLIP	26701625
MIRT467553	hsa-miR-485-5p	PAR-CLIP	26701625
MIRT467553	hsa-miR-485-5p	PAR-CLIP	26701625
MIRT054259	hsa-miR-490-3p	PAR-CLIP	26701625
MIRT054259	hsa-miR-490-3p	PAR-CLIP	26701625
MIRT054259	hsa-miR-490-3p	PAR-CLIP	26701625
MIRT467550	hsa-miR-6077	PAR-CLIP	26701625
MIRT467550	hsa-miR-6077	PAR-CLIP	26701625
MIRT467550	hsa-miR-6077	PAR-CLIP	26701625
MIRT273382	hsa-miR-619-3p	PAR-CLIP	26701625
MIRT273382	hsa-miR-619-3p	PAR-CLIP	26701625
MIRT273382	hsa-miR-619-3p	PAR-CLIP	26701625
MIRT467552	hsa-miR-6884-5p	PAR-CLIP	26701625
MIRT467552	hsa-miR-6884-5p	PAR-CLIP	26701625
MIRT467552	hsa-miR-6884-5p	PAR-CLIP	26701625
MIRT025886	hsa-miR-7-5p	PAR-CLIP	26701625
MIRT025886	hsa-miR-7-5p	PAR-CLIP	26701625
MIRT025886	hsa-miR-7-5p	PAR-CLIP	26701625
MIRT025886	hsa-miR-7-5p	PAR-CLIP	26701625
MIRT273384	hsa-miR-8066	PAR-CLIP	26701625
MIRT273384	hsa-miR-8066	PAR-CLIP	26701625
MIRT273384	hsa-miR-8066	PAR-CLIP	26701625
MIRT735327	hsa-miR-100-5p	Microarray, qRT-PCR, ELISA	32299427
MIRT025886	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT054259	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT273384	hsa-miR-8066	PAR-CLIP	20371350
MIRT273382	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT273383	hsa-miR-3185	PAR-CLIP	20371350
MIRT467555	hsa-miR-3975	PAR-CLIP	20371350
MIRT467554	hsa-miR-2467-5p	PAR-CLIP	20371350
MIRT467553	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT467552	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT467551	hsa-miR-3188	PAR-CLIP	20371350
MIRT467550	hsa-miR-6077	PAR-CLIP	20371350
MIRT467549	hsa-miR-4316	PAR-CLIP	20371350
MIRT467548	hsa-miR-1294	PAR-CLIP	20371350
MIRT025886	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT054259	hsa-miR-490-3p	PAR-CLIP	20371350
MIRT273384	hsa-miR-8066	PAR-CLIP	20371350
MIRT273382	hsa-miR-619-3p	PAR-CLIP	20371350
MIRT273383	hsa-miR-3185	PAR-CLIP	20371350
MIRT467555	hsa-miR-3975	PAR-CLIP	20371350
MIRT467554	hsa-miR-2467-5p	PAR-CLIP	20371350
MIRT467553	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT467552	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT467551	hsa-miR-3188	PAR-CLIP	20371350
MIRT467550	hsa-miR-6077	PAR-CLIP	20371350
MIRT467549	hsa-miR-4316	PAR-CLIP	20371350
MIRT467548	hsa-miR-1294	PAR-CLIP	20371350
MIRT467558	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT113314	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT113317	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT113301	hsa-miR-940	PAR-CLIP	23592263
MIRT467557	hsa-miR-9500	PAR-CLIP	23592263
MIRT467556	hsa-miR-4719	PAR-CLIP	23592263
MIRT025886	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT054259	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT273384	hsa-miR-8066	PAR-CLIP	23592263
MIRT273382	hsa-miR-619-3p	PAR-CLIP	23592263
MIRT273383	hsa-miR-3185	PAR-CLIP	23592263
MIRT467555	hsa-miR-3975	PAR-CLIP	23592263
MIRT467554	hsa-miR-2467-5p	PAR-CLIP	23592263
MIRT467553	hsa-miR-485-5p	PAR-CLIP	23592263
MIRT467552	hsa-miR-6884-5p	PAR-CLIP	23592263
MIRT467551	hsa-miR-3188	PAR-CLIP	23592263
MIRT467550	hsa-miR-6077	PAR-CLIP	23592263
MIRT467549	hsa-miR-4316	PAR-CLIP	23592263
MIRT467548	hsa-miR-1294	PAR-CLIP	23592263
MIRT467547	hsa-miR-4695-5p	PAR-CLIP	23592263
MIRT467546	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT467545	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT467544	hsa-miR-4459	PAR-CLIP	23592263
MIRT467543	hsa-miR-665	PAR-CLIP	23592263
MIRT467542	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT113304	hsa-miR-1827	PAR-CLIP	23592263
MIRT467541	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT467540	hsa-miR-4327	PAR-CLIP	23592263
MIRT467539	hsa-miR-3612	PAR-CLIP	23592263
MIRT467538	hsa-miR-650	PAR-CLIP	23592263
MIRT467537	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT467536	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT467535	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT1371848	hsa-miR-1237	CLIP-seq
MIRT1371849	hsa-miR-1248	CLIP-seq
MIRT1371850	hsa-miR-1292	CLIP-seq
MIRT1371851	hsa-miR-1321	CLIP-seq
MIRT1371852	hsa-miR-142-3p	CLIP-seq
MIRT1371853	hsa-miR-1912	CLIP-seq
MIRT1371854	hsa-miR-1972	CLIP-seq
MIRT1371855	hsa-miR-21	CLIP-seq
MIRT1371856	hsa-miR-214	CLIP-seq
MIRT1371857	hsa-miR-221	CLIP-seq
MIRT1371858	hsa-miR-222	CLIP-seq
MIRT1371859	hsa-miR-2277-3p	CLIP-seq
MIRT1371860	hsa-miR-24	CLIP-seq
MIRT1371861	hsa-miR-3137	CLIP-seq
MIRT1371862	hsa-miR-3144-5p	CLIP-seq
MIRT1371863	hsa-miR-3151	CLIP-seq
MIRT1371864	hsa-miR-3191	CLIP-seq
MIRT1371865	hsa-miR-3199	CLIP-seq
MIRT1371866	hsa-miR-361-5p	CLIP-seq
MIRT1371867	hsa-miR-3619-5p	CLIP-seq
MIRT1371868	hsa-miR-3661	CLIP-seq
MIRT1371869	hsa-miR-3686	CLIP-seq
MIRT1371870	hsa-miR-371b-3p	CLIP-seq
MIRT1371871	hsa-miR-3976	CLIP-seq
MIRT1371872	hsa-miR-4265	CLIP-seq
MIRT1371873	hsa-miR-4269	CLIP-seq
MIRT1371874	hsa-miR-4283	CLIP-seq
MIRT1371875	hsa-miR-4296	CLIP-seq
MIRT1371876	hsa-miR-4322	CLIP-seq
MIRT1371877	hsa-miR-4433	CLIP-seq
MIRT1371878	hsa-miR-4437	CLIP-seq
MIRT1371879	hsa-miR-4438	CLIP-seq
MIRT1371880	hsa-miR-4446-3p	CLIP-seq
MIRT1371881	hsa-miR-4447	CLIP-seq
MIRT1371882	hsa-miR-4471	CLIP-seq
MIRT1371883	hsa-miR-4472	CLIP-seq
MIRT1371884	hsa-miR-4473	CLIP-seq
MIRT1371885	hsa-miR-4489	CLIP-seq
MIRT1371886	hsa-miR-4492	CLIP-seq
MIRT1371887	hsa-miR-4498	CLIP-seq
MIRT1371888	hsa-miR-4505	CLIP-seq
MIRT1371889	hsa-miR-4513	CLIP-seq
MIRT1371890	hsa-miR-4650-5p	CLIP-seq
MIRT1371891	hsa-miR-4652-3p	CLIP-seq
MIRT1371892	hsa-miR-4652-5p	CLIP-seq
MIRT1371893	hsa-miR-4661-5p	CLIP-seq
MIRT1371894	hsa-miR-4667-5p	CLIP-seq
MIRT1371895	hsa-miR-4668-5p	CLIP-seq
MIRT1371896	hsa-miR-4690-5p	CLIP-seq
MIRT1371897	hsa-miR-4700-5p	CLIP-seq
MIRT1371898	hsa-miR-4714-3p	CLIP-seq
MIRT1371899	hsa-miR-4717-3p	CLIP-seq
MIRT1371900	hsa-miR-4721	CLIP-seq
MIRT1371901	hsa-miR-4728-5p	CLIP-seq
MIRT1371902	hsa-miR-4731-5p	CLIP-seq
MIRT1371903	hsa-miR-4739	CLIP-seq
MIRT1371904	hsa-miR-4740-5p	CLIP-seq
MIRT1371905	hsa-miR-4756-5p	CLIP-seq
MIRT1371906	hsa-miR-4768-3p	CLIP-seq
MIRT1371907	hsa-miR-486-3p	CLIP-seq
MIRT1371908	hsa-miR-491-5p	CLIP-seq
MIRT1371909	hsa-miR-498	CLIP-seq
MIRT1371910	hsa-miR-5095	CLIP-seq
MIRT1371911	hsa-miR-512-3p	CLIP-seq
MIRT1371912	hsa-miR-516a-3p	CLIP-seq
MIRT1371913	hsa-miR-520f	CLIP-seq
MIRT1371914	hsa-miR-548b-3p	CLIP-seq
MIRT1371915	hsa-miR-548v	CLIP-seq
MIRT1371916	hsa-miR-590-5p	CLIP-seq
MIRT1371917	hsa-miR-627	CLIP-seq
MIRT1371918	hsa-miR-631	CLIP-seq
MIRT1371919	hsa-miR-761	CLIP-seq
MIRT1371920	hsa-miR-762	CLIP-seq
MIRT1371921	hsa-miR-924	CLIP-seq
MIRT1371848	hsa-miR-1237	CLIP-seq
MIRT1371849	hsa-miR-1248	CLIP-seq
MIRT1371922	hsa-miR-128	CLIP-seq
MIRT1371850	hsa-miR-1292	CLIP-seq
MIRT1371923	hsa-miR-1296	CLIP-seq
MIRT1371851	hsa-miR-1321	CLIP-seq
MIRT1371924	hsa-miR-196a	CLIP-seq
MIRT1371925	hsa-miR-196b	CLIP-seq
MIRT1371855	hsa-miR-21	CLIP-seq
MIRT1371926	hsa-miR-27a	CLIP-seq
MIRT1371927	hsa-miR-27b	CLIP-seq
MIRT1371928	hsa-miR-2909	CLIP-seq
MIRT1371929	hsa-miR-3126-5p	CLIP-seq
MIRT1371930	hsa-miR-3200-5p	CLIP-seq
MIRT1371931	hsa-miR-342-3p	CLIP-seq
MIRT1371866	hsa-miR-361-5p	CLIP-seq
MIRT1371870	hsa-miR-371b-3p	CLIP-seq
MIRT1371932	hsa-miR-3927	CLIP-seq
MIRT1371871	hsa-miR-3976	CLIP-seq
MIRT1371872	hsa-miR-4265	CLIP-seq
MIRT1371933	hsa-miR-4266	CLIP-seq
MIRT1371873	hsa-miR-4269	CLIP-seq
MIRT1371875	hsa-miR-4296	CLIP-seq
MIRT1371934	hsa-miR-4320	CLIP-seq
MIRT1371876	hsa-miR-4322	CLIP-seq
MIRT1371935	hsa-miR-4419a	CLIP-seq
MIRT1371877	hsa-miR-4433	CLIP-seq
MIRT1371936	hsa-miR-4436b-3p	CLIP-seq
MIRT1371879	hsa-miR-4438	CLIP-seq
MIRT1371882	hsa-miR-4471	CLIP-seq
MIRT1371937	hsa-miR-4510	CLIP-seq
MIRT1371938	hsa-miR-4649-3p	CLIP-seq
MIRT1371890	hsa-miR-4650-5p	CLIP-seq
MIRT1371891	hsa-miR-4652-3p	CLIP-seq
MIRT1371893	hsa-miR-4661-5p	CLIP-seq
MIRT1371895	hsa-miR-4668-5p	CLIP-seq
MIRT1371939	hsa-miR-4691-3p	CLIP-seq
MIRT1371898	hsa-miR-4714-3p	CLIP-seq
MIRT1371899	hsa-miR-4717-3p	CLIP-seq
MIRT1371901	hsa-miR-4728-5p	CLIP-seq
MIRT1371903	hsa-miR-4739	CLIP-seq
MIRT1371905	hsa-miR-4756-5p	CLIP-seq
MIRT1371940	hsa-miR-4761-3p	CLIP-seq
MIRT1371906	hsa-miR-4768-3p	CLIP-seq
MIRT1371941	hsa-miR-4778-5p	CLIP-seq
MIRT1371942	hsa-miR-4779	CLIP-seq
MIRT1371909	hsa-miR-498	CLIP-seq
MIRT1371910	hsa-miR-5095	CLIP-seq
MIRT1371912	hsa-miR-516a-3p	CLIP-seq
MIRT1371916	hsa-miR-590-5p	CLIP-seq
MIRT2110339	hsa-miR-1252	CLIP-seq
MIRT1371936	hsa-miR-4436b-3p	CLIP-seq
MIRT2110340	hsa-miR-4475	CLIP-seq
MIRT2110341	hsa-miR-4533	CLIP-seq
MIRT2110342	hsa-miR-1207-3p	CLIP-seq
MIRT2110343	hsa-miR-1207-5p	CLIP-seq
MIRT2110344	hsa-miR-122	CLIP-seq
MIRT2110345	hsa-miR-1245b-3p	CLIP-seq
MIRT2110339	hsa-miR-1252	CLIP-seq
MIRT2110346	hsa-miR-1278	CLIP-seq
MIRT1371850	hsa-miR-1292	CLIP-seq
MIRT2110347	hsa-miR-1295	CLIP-seq
MIRT1371851	hsa-miR-1321	CLIP-seq
MIRT2110348	hsa-miR-1323	CLIP-seq
MIRT2110349	hsa-miR-136	CLIP-seq
MIRT2110350	hsa-miR-1825	CLIP-seq
MIRT2110351	hsa-miR-186	CLIP-seq
MIRT2110352	hsa-miR-1913	CLIP-seq
MIRT2110353	hsa-miR-1915	CLIP-seq
MIRT2110354	hsa-miR-198	CLIP-seq
MIRT2110355	hsa-miR-199a-5p	CLIP-seq
MIRT2110356	hsa-miR-199b-5p	CLIP-seq
MIRT2110357	hsa-miR-200b	CLIP-seq
MIRT2110358	hsa-miR-200c	CLIP-seq
MIRT1371856	hsa-miR-214	CLIP-seq
MIRT2110359	hsa-miR-22	CLIP-seq
MIRT2110360	hsa-miR-2355-3p	CLIP-seq
MIRT2110361	hsa-miR-2355-5p	CLIP-seq
MIRT1371860	hsa-miR-24	CLIP-seq
MIRT2110362	hsa-miR-3128	CLIP-seq
MIRT2110363	hsa-miR-3133	CLIP-seq
MIRT2110364	hsa-miR-3136-3p	CLIP-seq
MIRT2110365	hsa-miR-3138	CLIP-seq
MIRT2110366	hsa-miR-3145-5p	CLIP-seq
MIRT2110367	hsa-miR-3173-3p	CLIP-seq
MIRT2110368	hsa-miR-3189-5p	CLIP-seq
MIRT2110369	hsa-miR-323b-3p	CLIP-seq
MIRT2110370	hsa-miR-323b-5p	CLIP-seq
MIRT2110371	hsa-miR-324-3p	CLIP-seq
MIRT1371867	hsa-miR-3619-5p	CLIP-seq
MIRT2110372	hsa-miR-3668	CLIP-seq
MIRT2110373	hsa-miR-3942-5p	CLIP-seq
MIRT2110374	hsa-miR-3978	CLIP-seq
MIRT1371872	hsa-miR-4265	CLIP-seq
MIRT1371873	hsa-miR-4269	CLIP-seq
MIRT2110375	hsa-miR-4270	CLIP-seq
MIRT2110376	hsa-miR-429	CLIP-seq
MIRT1371875	hsa-miR-4296	CLIP-seq
MIRT2110377	hsa-miR-4308	CLIP-seq
MIRT1371876	hsa-miR-4322	CLIP-seq
MIRT1371935	hsa-miR-4419a	CLIP-seq
MIRT2110378	hsa-miR-4428	CLIP-seq
MIRT1371936	hsa-miR-4436b-3p	CLIP-seq
MIRT1371879	hsa-miR-4438	CLIP-seq
MIRT2110379	hsa-miR-4441	CLIP-seq
MIRT1371882	hsa-miR-4471	CLIP-seq
MIRT2110340	hsa-miR-4475	CLIP-seq
MIRT2110380	hsa-miR-4477a	CLIP-seq
MIRT2110381	hsa-miR-4491	CLIP-seq
MIRT1371937	hsa-miR-4510	CLIP-seq
MIRT2110382	hsa-miR-451b	CLIP-seq
MIRT2110383	hsa-miR-4521	CLIP-seq
MIRT2110341	hsa-miR-4533	CLIP-seq
MIRT2110384	hsa-miR-4645-3p	CLIP-seq
MIRT2110385	hsa-miR-4651	CLIP-seq
MIRT2110386	hsa-miR-4657	CLIP-seq
MIRT2110387	hsa-miR-4685-5p	CLIP-seq
MIRT1371939	hsa-miR-4691-3p	CLIP-seq
MIRT2110388	hsa-miR-4699-5p	CLIP-seq
MIRT2110389	hsa-miR-4703-5p	CLIP-seq
MIRT1371899	hsa-miR-4717-3p	CLIP-seq
MIRT1371901	hsa-miR-4728-5p	CLIP-seq
MIRT1371903	hsa-miR-4739	CLIP-seq
MIRT2110390	hsa-miR-4747-3p	CLIP-seq
MIRT2110391	hsa-miR-4747-5p	CLIP-seq
MIRT1371905	hsa-miR-4756-5p	CLIP-seq
MIRT2110392	hsa-miR-4758-3p	CLIP-seq
MIRT2110393	hsa-miR-4763-3p	CLIP-seq
MIRT2110394	hsa-miR-4800-5p	CLIP-seq
MIRT1371908	hsa-miR-491-5p	CLIP-seq
MIRT2110395	hsa-miR-505	CLIP-seq
MIRT1371910	hsa-miR-5095	CLIP-seq
MIRT2110396	hsa-miR-515-5p	CLIP-seq
MIRT2110397	hsa-miR-518d-5p	CLIP-seq
MIRT2110398	hsa-miR-519b-5p	CLIP-seq
MIRT2110399	hsa-miR-519c-5p	CLIP-seq
MIRT2110400	hsa-miR-520c-5p	CLIP-seq
MIRT2110401	hsa-miR-526a	CLIP-seq
MIRT2110402	hsa-miR-544b	CLIP-seq
MIRT2110403	hsa-miR-548a-3p	CLIP-seq
MIRT2110404	hsa-miR-548e	CLIP-seq
MIRT2110405	hsa-miR-548f	CLIP-seq
MIRT2110406	hsa-miR-548o	CLIP-seq
MIRT2110407	hsa-miR-555	CLIP-seq
MIRT2110408	hsa-miR-608	CLIP-seq
MIRT2110409	hsa-miR-619	CLIP-seq
MIRT2110410	hsa-miR-659	CLIP-seq
MIRT2110411	hsa-miR-676	CLIP-seq
MIRT2110412	hsa-miR-7	CLIP-seq
MIRT2110413	hsa-miR-711	CLIP-seq
MIRT1371919	hsa-miR-761	CLIP-seq
MIRT2110414	hsa-miR-875-3p	CLIP-seq
MIRT2110415	hsa-miR-885-5p	CLIP-seq
MIRT2110343	hsa-miR-1207-5p	CLIP-seq
MIRT2110339	hsa-miR-1252	CLIP-seq
MIRT2333921	hsa-miR-127-5p	CLIP-seq
MIRT2333922	hsa-miR-1304	CLIP-seq
MIRT1371851	hsa-miR-1321	CLIP-seq
MIRT2333923	hsa-miR-1909	CLIP-seq
MIRT2110353	hsa-miR-1915	CLIP-seq
MIRT2110363	hsa-miR-3133	CLIP-seq
MIRT2110364	hsa-miR-3136-3p	CLIP-seq
MIRT2333924	hsa-miR-3150a-3p	CLIP-seq
MIRT2333925	hsa-miR-3616-3p	CLIP-seq
MIRT2110375	hsa-miR-4270	CLIP-seq
MIRT1371936	hsa-miR-4436b-3p	CLIP-seq
MIRT2110379	hsa-miR-4441	CLIP-seq
MIRT1371886	hsa-miR-4492	CLIP-seq
MIRT1371887	hsa-miR-4498	CLIP-seq
MIRT1371888	hsa-miR-4505	CLIP-seq
MIRT2110341	hsa-miR-4533	CLIP-seq
MIRT1371894	hsa-miR-4667-5p	CLIP-seq
MIRT2110387	hsa-miR-4685-5p	CLIP-seq
MIRT1371897	hsa-miR-4700-5p	CLIP-seq
MIRT1371900	hsa-miR-4721	CLIP-seq
MIRT1371901	hsa-miR-4728-5p	CLIP-seq
MIRT1371902	hsa-miR-4731-5p	CLIP-seq
MIRT1371903	hsa-miR-4739	CLIP-seq
MIRT1371905	hsa-miR-4756-5p	CLIP-seq
MIRT2110393	hsa-miR-4763-3p	CLIP-seq
MIRT2333926	hsa-miR-512-5p	CLIP-seq
MIRT2110402	hsa-miR-544b	CLIP-seq
MIRT1371917	hsa-miR-627	CLIP-seq
MIRT2110412	hsa-miR-7	CLIP-seq
MIRT1371920	hsa-miR-762	CLIP-seq
MIRT1371921	hsa-miR-924	CLIP-seq
MIRT2333927	hsa-miR-935	CLIP-seq
MIRT2333928	hsa-miR-939	CLIP-seq
MIRT2110343	hsa-miR-1207-5p	CLIP-seq
MIRT2110340	hsa-miR-4475	CLIP-seq
MIRT1371900	hsa-miR-4721	CLIP-seq
MIRT2110393	hsa-miR-4763-3p	CLIP-seq
MIRT2110412	hsa-miR-7	CLIP-seq
MIRT2110384	hsa-miR-4645-3p	CLIP-seq
MIRT1371914	hsa-miR-548b-3p	CLIP-seq
MIRT1371914	hsa-miR-548b-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	NAS	12192000, 29374058
GO:0003682	Function	Chromatin binding	IEA
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	12917342, 15985610, 16189514, 18303029, 21516116, 21988832, 24421395, 24434208, 24981860, 25416956, 31515488, 32296183, 32459350, 32814053, 33961781, 34591612, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006337	Process	Nucleosome disassembly	IEA
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006338	Process	Chromatin remodeling	IMP	12917342
GO:0006338	Process	Chromatin remodeling	NAS	10078207, 29374058
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
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:0008284	Process	Positive regulation of cell population proliferation	NAS	29374058
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	8804307, 11078522, 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:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0035060	Component	Brahma complex	NAS	8804307
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
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IMP	12917342
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	12917342
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071398	Process	Cellular response to fatty acid	IEA
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:0140288	Component	GBAF complex	NAS	29374058
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	19279220, 30510198
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

Other IDs

• MIM: 601735
• HGNC: 11106
• e!Ensembl: ENSG00000066117

Protein

• UniProt ID: Q96GM5
• Protein name: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 (60 kDa BRG-1/Brm-associated factor subunit A) (BRG1-associated factor 60A) (BAF60A) (SWI/SNF complex 60 kDa subunit)
• 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, 7VDV, 7Y8R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02201	SWIB	293 → 365	SWIB/MDM2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues tested, including brain, heart, kidney, liver, lung, muscle, pancreas and placenta. {ECO:0000269|PubMed:8804307}.
• Sequence:

  MAARAGFQSVAPSGGAGASGGAGAAAALGPGGTPGPPVRMGPAPGQGLYRSPMPGAAYPR
  PGMLPGSRMTPQGPSMGPPGYGGNPSVRPGLAQSGMDQSRKRPAPQQIQQVQQQAVQNRN
  HNAKKKKMADKILPQRIRELVPESQAYMDLLAFERKLDQTIMRKRLDIQEALKRPIKQKR
  KLRIFISNTFNPAKSDAEDGEGTVASWELRVEGRLLEDSALSKYDATKQKRKFSSFFKSL
  VIELDKDLYGPDNHLVEWHRTATTQETDGFQVKRPGDVNVRCTVLLMLDYQPPQFKLDPR
  LARLLGIHTQTRPVIIQALWQYIKTHKLQDPHEREFVICDKYLQQIFESQRMKFSEIPQR
  LHALLMPPEPIIINHVISVDPNDQKKTACYDIDVEVDDTLKTQMNSFLLSTASQQEIATL
  DNKIHETIETINQLKTQREFMLSFARDPQGFINDWLQSQCRDLKTMTDVVGNPEEERRAE
  FYFQPWAQEAVCRYFYSKVQQRRQELEQALGIRNT

• Sequence length: 515

Pathways

KEGG:

ATP-dependent chromatin remodeling
Thermogenesis
Hepatocellular carcinoma

Reactome:

RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

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
Alopecia, androgenetic, 1	Likely pathogenic	rs1253128772	RCV002251689	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coffin-Siris syndrome 11	Pathogenic	rs2137907876, rs1592289150, rs1592294569, rs1592295890, rs1592295914, rs372368908	RCV001644552 RCV001003485 RCV001003486 RCV001003487 RCV001003488 RCV001003489	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COFFIN-SIRIS SYNDROME	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26542803		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	29596882	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	35968497	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31992292	Associate	★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38303608	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26542803		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28598010		★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	32299427	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	30879640		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	30879640		★☆☆☆☆ Found in Text Mining only
Glucocorticoid deficiency with achalasia	Glucocorticoid Deficiency With Achalasia	BEFREE	9693044		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30879640		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26542803	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26542803		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	38303608	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	29596882	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28598010, 28716547, 29079174, 31637714		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26542803		★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	29079174		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33323379	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31637714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tendinopathy	Tendinopathy	GWASCAT_DG	28358823		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35148461	Associate	★☆☆☆☆ Found in Text Mining only