Hs00506696_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23791905 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: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCB1	NM_001007468.2			NP_001007469.1
	NM_001317946.1			NP_001304875.1
	NM_003073.4			NP_003064.2
	XM_011530345.2			XP_011528647.1
	AB017523.1			BAC77068.1
	AJ011737.1			CAA09758.1
	AJ011738.1			CAA09759.1
	AK021419.1
	AK024025.1			BAB14784.1
	AK299411.1
	AK303620.1
	AL389878.1
	AU143041.1
	AY207470.1			AAO59166.1
	AY207471.1			AAO59167.1
	BC117114.1
	BC143667.1
	BG705851.1
	CR456581.1			CAG30467.1
	HY013730.1

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

More Information

• Set Membership: Intragenic, Non-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