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

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