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

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