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

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