Hs05562880_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23787687 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	SMARCB1 SPECC1L CHCHD10 SUSD2 GGT1 POM121L9P GUCD1 LOC388882 LRRC75B PCAT14 GSTT2B GUSBP11 DERL3 LOC100652871 GSTTP1 ZDHHC8P1 DRICH1 RGL4 CABIN1 GSTT2 CES5AP1 SNRPD3 ADORA2A-AS1 VPREB3 C22orf15 DDTL ADORA2A SPECC1L-ADORA2A UPB1 MIF-AS1 IGLL1 LOC107985555 ZNF70 MMP11 GGT5 LOC107985559 MIF DDT LOC101929374 SLC2A11
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	SMARCB1 CHCHD10 VPREB3 C22orf15 DDTL MIF-AS1 IGLL1 PCAT14 GSTT2B ZNF70 GUSBP11 DERL3 LOC100652871 MMP11 DRICH1 RGL4 LOC107985559 GSTT2 MIF DDT SLC2A11
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	SMARCB1 SPECC1L CHCHD10 BCRP3 SUSD2 GGT1 POM121L9P GUCD1 LOC388882 LRRC75B PCAT14 GSTT2B GUSBP11 DERL3 LOC100652871 POM121L10P GSTTP1 ZDHHC8P1 DRICH1 RGL4 CABIN1 GSTT2 CES5AP1 SNRPD3 ADORA2A-AS1 VPREB3 C22orf15 DDTL BCR ADORA2A SPECC1L-ADORA2A UPB1 MIF-AS1 IGLL1 LOC107985555 ZNF70 MMP11 GGT5 LOC107985559 MIF DDT LOC101929374 SLC2A11
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SMARCB1 SPECC1L CHCHD10 SUSD2 GGT1 POM121L9P GUCD1 LOC388882 LRRC75B PCAT14 GSTT2B GUSBP11 DERL3 LOC100652871 GSTTP1 ZDHHC8P1 DRICH1 RGL4 CABIN1 GSTT2 CES5AP1 SNRPD3 ADORA2A-AS1 VPREB3 C22orf15 DDTL ADORA2A SPECC1L-ADORA2A UPB1 MIF-AS1 IGLL1 LOC107985555 ZNF70 MMP11 GGT5 LOC107985559 MIF DDT LOC101929374 SLC2A11
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	SMARCB1 CHCHD10 VPREB3 C22orf15 MIF-AS1 IGLL1 LOC388882 PCAT14 ZNF70 GUSBP11 DERL3 MMP11 DRICH1 RGL4 MIF LOC101929374 SLC2A11
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	SMARCB1 CHCHD10 IGLV3-21 LOC388882 MIR5571 PCAT14 GSTT2B GUSBP11 DERL3 LOC100652871 IGLV4-3 IGLJ3 ZDHHC8P1 DRICH1 RGL4 RSPH14 GSTT2 GNAZ IGLV3-19 CES5AP1 FBXW4P1 IGLV2-5 VPREB3 C22orf15 DDTL BCR MIF-AS1 IGLL1 LOC107985555 RAB36 IGLL5 ZNF70 MIR650 MMP11 LOC107985559 IGLC1 MIF DDT LOC101929374 IGLV3-25 SLC2A11
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	SMARCB1 SPECC1L CHCHD10 BCRP3 SUSD2 GGT1 POM121L9P GUCD1 LOC388882 LRRC75B PCAT14 GSTT2B GUSBP11 DERL3 LOC100652871 POM121L10P GSTTP1 ZDHHC8P1 DRICH1 RGL4 CABIN1 GSTT2 CES5AP1 SNRPD3 ADORA2A-AS1 VPREB3 C22orf15 DDTL ADORA2A SPECC1L-ADORA2A UPB1 MIF-AS1 IGLL1 LOC107985555 ZNF70 MMP11 GGT5 LOC107985559 MIF DDT LOC101929374 SLC2A11
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	SMARCB1 CHCHD10 IGLV3-21 LOC388882 MIR5571 PCAT14 GSTT2B GUSBP11 DERL3 LOC100652871 IGLV4-3 GSTTP1 IGLJ3 ZDHHC8P1 DRICH1 RGL4 RSPH14 GSTT2 GNAZ IGLV3-19 CES5AP1 FBXW4P1 IGLV2-5 VPREB3 C22orf15 DDTL BCR MIF-AS1 GGTLC2 IGLL1 LOC107985555 RAB36 IGLL5 ZNF70 MIR650 MMP11 POM121L1P LOC107985559 IGLC1 MIF DDT LOC101929374 IGLV3-25 SLC2A11
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	SMARCB1 SPECC1L CHCHD10 BCRP3 SUSD2 GGT1 POM121L9P GUCD1 LOC388882 LRRC75B PCAT14 GSTT2B GUSBP11 DERL3 LOC100652871 POM121L10P GSTTP1 ZDHHC8P1 DRICH1 RGL4 CABIN1 GSTT2 CES5AP1 SNRPD3 ADORA2A-AS1 VPREB3 C22orf15 DDTL ADORA2A SPECC1L-ADORA2A UPB1 MIF-AS1 IGLL1 LOC107985555 ZNF70 MMP11 GGT5 LOC107985559 MIF DDT LOC101929374 SLC2A11

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