Hs05572706_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23788753 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 Intron 1

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

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA 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