Hs01497967_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23800990 on build GRCh38
• Cytoband: 22q11.23

Target Gene Details

• Entrez Gene ID: 6598
• Gene Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
• Gene Aliases: BAF47, CSS3, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS
• Location: Chr.22:23786931-23834518 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCB1	NM_001007468.2	4	621	NP_001007469.1
	NM_001317946.1	4	621	NP_001304875.1
	NM_003073.4	4	648	NP_003064.2
	XM_011530345.2	4	617	XP_011528647.1
	AB017523.1	4	382	BAC77068.1
	AJ011737.1	4	556	CAA09758.1
	AJ011738.1	4	529	CAA09759.1
	AK021419.1	4	554
	AK024025.1	4	589	BAB14784.1
	AK299411.1	4	578
	AK303620.1	4	572
	AL389878.1	4	458
	AU143041.1	4	589
	AY207470.1			AAO59166.1
	AY207471.1			AAO59167.1
	AY562997.1	2	83	AAS75587.1
	BC117114.1	4	437
	BC143667.1	4	437
	BG705851.1	4	594
	CB161660.1	2	67
	CR456581.1	4	462	CAG30467.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv8039n54	Chr.22:23323169 - 24601506 on Build GRCh38	Gain	RGL4 UPB1 LRRC75B LOC101929374 LOC107985555 C22orf15 GGT5 LOC388882 GGT1 ADORA2A DRICH1 DDTL VPREB3 MIF SUSD2 ZDHHC8P1 DERL3 ZNF70 DDT IGLL1 SNRPD3 SPECC1L-ADORA2A SLC2A11 CABIN1 POM121L9P MIF-AS1 GUCD1 SPECC1L MMP11 GUSBP11 GSTT2B SMARCB1 CES5AP1 CHCHD10 GSTTP1 LOC107985559 GSTT2 PCAT14 ADORA2A-AS1 LOC100652871
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	RGL4 MIF-AS1 MMP11 GUSBP11 C22orf15 GSTT2B SMARCB1 DRICH1 DDTL VPREB3 CHCHD10 LOC107985559 GSTT2 PCAT14 MIF DERL3 ZNF70 DDT IGLL1 SLC2A11 LOC100652871
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	RGL4 UPB1 BCR POM121L10P LRRC75B LOC101929374 LOC107985555 C22orf15 GGT5 LOC388882 BCRP3 GGT1 ADORA2A DRICH1 DDTL VPREB3 MIF SUSD2 ZDHHC8P1 DERL3 ZNF70 DDT IGLL1 SNRPD3 SPECC1L-ADORA2A SLC2A11 CABIN1 POM121L9P MIF-AS1 GUCD1 SPECC1L MMP11 GUSBP11 GSTT2B SMARCB1 CES5AP1 CHCHD10 GSTTP1 LOC107985559 GSTT2 PCAT14 ADORA2A-AS1 LOC100652871
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	RGL4 UPB1 LRRC75B LOC101929374 LOC107985555 C22orf15 GGT5 LOC388882 GGT1 ADORA2A DRICH1 DDTL VPREB3 MIF SUSD2 ZDHHC8P1 DERL3 ZNF70 DDT IGLL1 SNRPD3 SPECC1L-ADORA2A SLC2A11 CABIN1 POM121L9P MIF-AS1 GUCD1 SPECC1L MMP11 GUSBP11 GSTT2B SMARCB1 CES5AP1 CHCHD10 GSTTP1 LOC107985559 GSTT2 PCAT14 ADORA2A-AS1 LOC100652871
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	RGL4 MIF-AS1 MMP11 LOC101929374 GUSBP11 C22orf15 LOC388882 SMARCB1 DRICH1 VPREB3 CHCHD10 PCAT14 MIF DERL3 ZNF70 IGLL1 SLC2A11
esv3575444	Chr.22:23795497 - 24001082 on Build GRCh38	Gain	GSTTP1 LOC107985559 GSTT2 MIF-AS1 MIF DERL3 DDT GSTT2B SMARCB1 SLC2A11 DDTL LOC100652871
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	RSPH14 RGL4 BCR IGLV3-21 IGLV4-3 LOC101929374 LOC107985555 C22orf15 IGLJ3 LOC388882 DRICH1 DDTL VPREB3 MIF ZDHHC8P1 DERL3 ZNF70 MIR5571 DDT IGLL1 MIR650 SLC2A11 FBXW4P1 MIF-AS1 IGLL5 IGLC1 MMP11 IGLV3-19 GUSBP11 GSTT2B SMARCB1 CES5AP1 RAB36 CHCHD10 LOC107985559 GSTT2 IGLV3-25 PCAT14 IGLV2-5 GNAZ LOC100652871
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	RGL4 UPB1 POM121L10P LRRC75B LOC101929374 LOC107985555 C22orf15 GGT5 LOC388882 BCRP3 GGT1 ADORA2A DRICH1 DDTL VPREB3 MIF SUSD2 ZDHHC8P1 DERL3 ZNF70 DDT IGLL1 SNRPD3 SPECC1L-ADORA2A SLC2A11 CABIN1 POM121L9P MIF-AS1 GUCD1 SPECC1L MMP11 GUSBP11 GSTT2B SMARCB1 CES5AP1 CHCHD10 GSTTP1 LOC107985559 GSTT2 PCAT14 ADORA2A-AS1 LOC100652871
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	RSPH14 RGL4 BCR IGLV3-21 IGLV4-3 LOC101929374 LOC107985555 C22orf15 IGLJ3 LOC388882 DRICH1 DDTL POM121L1P VPREB3 MIF ZDHHC8P1 DERL3 ZNF70 MIR5571 DDT IGLL1 MIR650 SLC2A11 FBXW4P1 GGTLC2 MIF-AS1 IGLL5 IGLC1 MMP11 IGLV3-19 GUSBP11 GSTT2B SMARCB1 CES5AP1 RAB36 CHCHD10 GSTTP1 LOC107985559 GSTT2 IGLV3-25 PCAT14 IGLV2-5 GNAZ LOC100652871
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	RGL4 UPB1 POM121L10P LRRC75B LOC101929374 LOC107985555 C22orf15 GGT5 LOC388882 BCRP3 GGT1 ADORA2A DRICH1 DDTL VPREB3 MIF SUSD2 ZDHHC8P1 DERL3 ZNF70 DDT IGLL1 SNRPD3 SPECC1L-ADORA2A SLC2A11 CABIN1 POM121L9P MIF-AS1 GUCD1 SPECC1L MMP11 GUSBP11 GSTT2B SMARCB1 CES5AP1 CHCHD10 GSTTP1 LOC107985559 GSTT2 PCAT14 ADORA2A-AS1 LOC100652871

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein, nucleic acid metabolism protein

Gene Ontology Categories:

Process(es)

blastocyst hatching
DNA repair
nucleosome disassembly
chromatin remodeling
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
cell cycle
nervous system development
negative regulation of cell proliferation
DNA integration
covalent chromatin modification
cell differentiation
single stranded viral RNA replication via double stranded DNA intermediate
ATP-dependent chromatin remodeling
positive regulation by host of viral transcription
positive regulation of transcription from RNA polymerase II promoter
positive regulation of sequence-specific DNA binding transcription factor activity
positive regulation of histone H4 acetylation
negative regulation of histone H3-K9 dimethylation
negative regulation of histone H3-K9 trimethylation
positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter
positive regulation of glucose mediated signaling pathway
positive regulation of histone H3-K9 acetylation
regulation of histone H4-K16 acetylation

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
RNA polymerase II distal enhancer sequence-specific DNA binding
RNA polymerase I CORE element sequence-specific DNA binding
p53 binding
DNA binding
transcription coactivator activity
protein binding
Tat protein binding
nucleosomal DNA binding