Hs05576775_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23789723 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	SUSD2 LOC100652871 CES5AP1 LOC388882 DERL3 SLC2A11 DRICH1 VPREB3 GSTT2B LOC107985555 PCAT14 RGL4 DDT C22orf15 GSTT2 SPECC1L SNRPD3 MIF GUSBP11 DDTL GGT1 ZNF70 GGT5 CABIN1 MMP11 GUCD1 LRRC75B CHCHD10 POM121L9P MIF-AS1 ZDHHC8P1 LOC107985559 SPECC1L-ADORA2A IGLL1 GSTTP1 ADORA2A SMARCB1 ADORA2A-AS1 UPB1 LOC101929374
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	LOC100652871 MMP11 CHCHD10 DERL3 MIF-AS1 SLC2A11 LOC107985559 DRICH1 VPREB3 GSTT2B PCAT14 IGLL1 RGL4 DDT C22orf15 SMARCB1 GSTT2 MIF GUSBP11 DDTL ZNF70
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	SUSD2 LOC100652871 CES5AP1 LOC388882 DERL3 SLC2A11 BCRP3 DRICH1 VPREB3 GSTT2B LOC107985555 PCAT14 RGL4 DDT C22orf15 GSTT2 SPECC1L SNRPD3 MIF GUSBP11 DDTL GGT1 ZNF70 GGT5 CABIN1 MMP11 GUCD1 LRRC75B CHCHD10 POM121L9P MIF-AS1 ZDHHC8P1 LOC107985559 POM121L10P SPECC1L-ADORA2A BCR IGLL1 GSTTP1 ADORA2A SMARCB1 ADORA2A-AS1 UPB1 LOC101929374
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SUSD2 LOC100652871 CES5AP1 LOC388882 DERL3 SLC2A11 DRICH1 VPREB3 GSTT2B LOC107985555 PCAT14 RGL4 DDT C22orf15 GSTT2 SPECC1L SNRPD3 MIF GUSBP11 DDTL GGT1 ZNF70 GGT5 CABIN1 MMP11 GUCD1 LRRC75B CHCHD10 POM121L9P MIF-AS1 ZDHHC8P1 LOC107985559 SPECC1L-ADORA2A IGLL1 GSTTP1 ADORA2A SMARCB1 ADORA2A-AS1 UPB1 LOC101929374
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	MMP11 CHCHD10 LOC388882 DERL3 MIF-AS1 SLC2A11 DRICH1 VPREB3 PCAT14 IGLL1 RGL4 C22orf15 SMARCB1 MIF GUSBP11 ZNF70 LOC101929374
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	LOC100652871 FBXW4P1 CES5AP1 LOC388882 DERL3 IGLV2-5 SLC2A11 IGLV3-25 DRICH1 VPREB3 GSTT2B LOC107985555 PCAT14 GNAZ RGL4 DDT C22orf15 GSTT2 IGLL5 MIF MIR650 GUSBP11 DDTL ZNF70 IGLC1 IGLV3-19 MIR5571 MMP11 CHCHD10 IGLJ3 MIF-AS1 ZDHHC8P1 LOC107985559 IGLV4-3 BCR IGLL1 SMARCB1 RSPH14 IGLV3-21 RAB36 LOC101929374
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	SUSD2 LOC100652871 CES5AP1 LOC388882 DERL3 SLC2A11 BCRP3 DRICH1 VPREB3 GSTT2B LOC107985555 PCAT14 RGL4 DDT C22orf15 GSTT2 SPECC1L SNRPD3 MIF GUSBP11 DDTL GGT1 ZNF70 GGT5 CABIN1 MMP11 GUCD1 LRRC75B CHCHD10 POM121L9P MIF-AS1 ZDHHC8P1 LOC107985559 POM121L10P SPECC1L-ADORA2A IGLL1 GSTTP1 ADORA2A SMARCB1 ADORA2A-AS1 UPB1 LOC101929374
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	LOC100652871 FBXW4P1 CES5AP1 LOC388882 DERL3 IGLV2-5 SLC2A11 GGTLC2 IGLV3-25 DRICH1 VPREB3 GSTT2B LOC107985555 PCAT14 GNAZ RGL4 DDT C22orf15 GSTT2 IGLL5 MIF MIR650 GUSBP11 DDTL ZNF70 IGLC1 IGLV3-19 MIR5571 MMP11 CHCHD10 IGLJ3 MIF-AS1 ZDHHC8P1 LOC107985559 IGLV4-3 BCR IGLL1 GSTTP1 SMARCB1 POM121L1P RSPH14 IGLV3-21 RAB36 LOC101929374
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	SUSD2 LOC100652871 CES5AP1 LOC388882 DERL3 SLC2A11 BCRP3 DRICH1 VPREB3 GSTT2B LOC107985555 PCAT14 RGL4 DDT C22orf15 GSTT2 SPECC1L SNRPD3 MIF GUSBP11 DDTL GGT1 ZNF70 GGT5 CABIN1 MMP11 GUCD1 LRRC75B CHCHD10 POM121L9P MIF-AS1 ZDHHC8P1 LOC107985559 POM121L10P SPECC1L-ADORA2A IGLL1 GSTTP1 ADORA2A SMARCB1 ADORA2A-AS1 UPB1 LOC101929374

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