Hs05589066_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23799194 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 3

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
	AY207470.1			AAO59166.1
	AY207471.1			AAO59167.1
	AY562997.1			AAS75587.1
	BC117114.1
	BC143667.1
	BG705851.1
	CB161660.1
	CR456581.1			CAG30467.1

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	SPECC1L CHCHD10 GSTT2 LOC101929374 GGT1 SNRPD3 GGT5 MMP11 C22orf15 VPREB3 MIF-AS1 CABIN1 DRICH1 MIF LOC100652871 SUSD2 RGL4 GSTT2B DDTL SMARCB1 LOC107985559 LRRC75B PCAT14 LOC388882 SLC2A11 GSTTP1 POM121L9P IGLL1 GUCD1 ZNF70 DERL3 ADORA2A-AS1 LOC107985555 SPECC1L-ADORA2A CES5AP1 ZDHHC8P1 GUSBP11 ADORA2A DDT UPB1
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	SMARCB1 LOC107985559 CHCHD10 GSTT2 PCAT14 SLC2A11 IGLL1 MMP11 ZNF70 C22orf15 VPREB3 MIF-AS1 DERL3 DRICH1 GUSBP11 DDT MIF LOC100652871 RGL4 GSTT2B DDTL
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SPECC1L CHCHD10 GSTT2 LOC101929374 GGT1 SNRPD3 GGT5 MMP11 C22orf15 VPREB3 MIF-AS1 CABIN1 DRICH1 MIF LOC100652871 SUSD2 RGL4 GSTT2B DDTL SMARCB1 LOC107985559 LRRC75B PCAT14 LOC388882 SLC2A11 GSTTP1 POM121L9P IGLL1 GUCD1 ZNF70 DERL3 ADORA2A-AS1 LOC107985555 SPECC1L-ADORA2A CES5AP1 ZDHHC8P1 GUSBP11 ADORA2A DDT UPB1
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	SPECC1L CHCHD10 GSTT2 LOC101929374 GGT1 SNRPD3 GGT5 MMP11 C22orf15 VPREB3 MIF-AS1 CABIN1 DRICH1 BCRP3 MIF LOC100652871 POM121L10P SUSD2 RGL4 GSTT2B DDTL SMARCB1 LOC107985559 LRRC75B BCR PCAT14 LOC388882 SLC2A11 GSTTP1 POM121L9P IGLL1 GUCD1 ZNF70 DERL3 ADORA2A-AS1 LOC107985555 SPECC1L-ADORA2A CES5AP1 ZDHHC8P1 GUSBP11 ADORA2A DDT UPB1
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	SMARCB1 CHCHD10 PCAT14 LOC101929374 LOC388882 SLC2A11 IGLL1 MMP11 ZNF70 C22orf15 VPREB3 MIF-AS1 DERL3 DRICH1 GUSBP11 MIF RGL4
esv3575444	Chr.22:23795497 - 24001082 on Build GRCh38	Gain	SMARCB1 LOC107985559 MIF-AS1 DERL3 GSTT2 SLC2A11 GSTTP1 DDT MIF LOC100652871 GSTT2B DDTL
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	SPECC1L CHCHD10 GSTT2 LOC101929374 GGT1 SNRPD3 GGT5 MMP11 C22orf15 VPREB3 MIF-AS1 CABIN1 DRICH1 BCRP3 MIF LOC100652871 POM121L10P SUSD2 RGL4 GSTT2B DDTL SMARCB1 LOC107985559 LRRC75B PCAT14 LOC388882 SLC2A11 GSTTP1 POM121L9P IGLL1 GUCD1 ZNF70 DERL3 ADORA2A-AS1 LOC107985555 SPECC1L-ADORA2A CES5AP1 ZDHHC8P1 GUSBP11 ADORA2A DDT UPB1
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	CHCHD10 GSTT2 LOC101929374 MIR650 FBXW4P1 IGLV3-21 RSPH14 MIR5571 MMP11 C22orf15 VPREB3 MIF-AS1 DRICH1 IGLV3-25 RAB36 IGLL5 IGLJ3 MIF LOC100652871 RGL4 GSTT2B DDTL SMARCB1 LOC107985559 BCR PCAT14 IGLV2-5 LOC388882 IGLV3-19 SLC2A11 IGLC1 IGLL1 GNAZ ZNF70 DERL3 LOC107985555 CES5AP1 ZDHHC8P1 GUSBP11 IGLV4-3 DDT
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	CHCHD10 GSTT2 LOC101929374 MIR650 FBXW4P1 IGLV3-21 RSPH14 MIR5571 MMP11 C22orf15 VPREB3 MIF-AS1 POM121L1P DRICH1 IGLV3-25 RAB36 IGLL5 IGLJ3 MIF LOC100652871 RGL4 GSTT2B DDTL SMARCB1 LOC107985559 BCR PCAT14 IGLV2-5 LOC388882 IGLV3-19 SLC2A11 GSTTP1 IGLC1 IGLL1 GNAZ ZNF70 DERL3 LOC107985555 CES5AP1 ZDHHC8P1 GUSBP11 IGLV4-3 DDT GGTLC2
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	SPECC1L CHCHD10 GSTT2 LOC101929374 GGT1 SNRPD3 GGT5 MMP11 C22orf15 VPREB3 MIF-AS1 CABIN1 DRICH1 BCRP3 MIF LOC100652871 POM121L10P SUSD2 RGL4 GSTT2B DDTL SMARCB1 LOC107985559 LRRC75B PCAT14 LOC388882 SLC2A11 GSTTP1 POM121L9P IGLL1 GUCD1 ZNF70 DERL3 ADORA2A-AS1 LOC107985555 SPECC1L-ADORA2A CES5AP1 ZDHHC8P1 GUSBP11 ADORA2A DDT UPB1

More Information

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

Panther Classification:

Molecular Function -

DNA metabolism protein, nucleic acid 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