Hs05589337_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23798623 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	LOC107985559 DDT ADORA2A LOC107985555 SLC2A11 SPECC1L VPREB3 POM121L9P DRICH1 ZDHHC8P1 CABIN1 GSTT2 LOC388882 MMP11 DERL3 CES5AP1 ADORA2A-AS1 C22orf15 CHCHD10 SUSD2 LRRC75B SMARCB1 PCAT14 ZNF70 GUSBP11 GGT5 GSTT2B GUCD1 GSTTP1 RGL4 LOC101929374 MIF-AS1 UPB1 SPECC1L-ADORA2A DDTL MIF IGLL1 SNRPD3 LOC100652871 GGT1
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	PCAT14 LOC107985559 ZNF70 DDT GUSBP11 SLC2A11 VPREB3 GSTT2B DRICH1 GSTT2 MMP11 DERL3 RGL4 MIF-AS1 DDTL C22orf15 CHCHD10 MIF IGLL1 LOC100652871 SMARCB1
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	LOC107985559 DDT ADORA2A LOC107985555 SLC2A11 SPECC1L VPREB3 POM121L9P DRICH1 ZDHHC8P1 CABIN1 GSTT2 LOC388882 MMP11 DERL3 CES5AP1 ADORA2A-AS1 C22orf15 CHCHD10 SUSD2 LRRC75B SMARCB1 PCAT14 ZNF70 GUSBP11 GGT5 GSTT2B GUCD1 GSTTP1 RGL4 LOC101929374 MIF-AS1 UPB1 SPECC1L-ADORA2A DDTL MIF IGLL1 SNRPD3 LOC100652871 GGT1
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	LOC107985559 DDT ADORA2A LOC107985555 SLC2A11 SPECC1L VPREB3 POM121L9P DRICH1 ZDHHC8P1 CABIN1 GSTT2 LOC388882 MMP11 DERL3 CES5AP1 ADORA2A-AS1 C22orf15 CHCHD10 SUSD2 LRRC75B SMARCB1 BCR PCAT14 ZNF70 POM121L10P GUSBP11 BCRP3 GGT5 GSTT2B GUCD1 GSTTP1 RGL4 LOC101929374 MIF-AS1 UPB1 SPECC1L-ADORA2A DDTL MIF IGLL1 SNRPD3 LOC100652871 GGT1
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	PCAT14 ZNF70 GUSBP11 SLC2A11 VPREB3 DRICH1 LOC388882 MMP11 DERL3 RGL4 LOC101929374 MIF-AS1 C22orf15 CHCHD10 MIF IGLL1 SMARCB1
esv3575444	Chr.22:23795497 - 24001082 on Build GRCh38	Gain	DERL3 MIF-AS1 LOC107985559 DDTL DDT MIF SLC2A11 GSTT2B LOC100652871 SMARCB1 GSTT2 GSTTP1
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	LOC107985559 DDT ADORA2A LOC107985555 SLC2A11 SPECC1L VPREB3 POM121L9P DRICH1 ZDHHC8P1 CABIN1 GSTT2 LOC388882 MMP11 DERL3 CES5AP1 ADORA2A-AS1 C22orf15 CHCHD10 SUSD2 LRRC75B SMARCB1 PCAT14 ZNF70 POM121L10P GUSBP11 BCRP3 GGT5 GSTT2B GUCD1 GSTTP1 RGL4 LOC101929374 MIF-AS1 UPB1 SPECC1L-ADORA2A DDTL MIF IGLL1 SNRPD3 LOC100652871 GGT1
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	IGLV4-3 LOC107985559 DDT LOC107985555 GNAZ SLC2A11 VPREB3 DRICH1 ZDHHC8P1 RAB36 GSTT2 LOC388882 MMP11 DERL3 CES5AP1 IGLL5 IGLV3-19 C22orf15 CHCHD10 MIR650 SMARCB1 BCR PCAT14 IGLV3-25 IGLC1 ZNF70 GUSBP11 GSTT2B RGL4 FBXW4P1 LOC101929374 MIF-AS1 IGLJ3 IGLV3-21 DDTL MIR5571 MIF IGLL1 IGLV2-5 LOC100652871 RSPH14
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	IGLV4-3 LOC107985559 DDT LOC107985555 GNAZ SLC2A11 GGTLC2 VPREB3 DRICH1 ZDHHC8P1 RAB36 GSTT2 LOC388882 MMP11 DERL3 CES5AP1 IGLL5 IGLV3-19 C22orf15 CHCHD10 MIR650 SMARCB1 BCR PCAT14 IGLV3-25 POM121L1P IGLC1 ZNF70 GUSBP11 GSTT2B GSTTP1 RGL4 FBXW4P1 LOC101929374 MIF-AS1 IGLJ3 IGLV3-21 DDTL MIR5571 MIF IGLL1 IGLV2-5 LOC100652871 RSPH14
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	LOC107985559 DDT ADORA2A LOC107985555 SLC2A11 SPECC1L VPREB3 POM121L9P DRICH1 ZDHHC8P1 CABIN1 GSTT2 LOC388882 MMP11 DERL3 CES5AP1 ADORA2A-AS1 C22orf15 CHCHD10 SUSD2 LRRC75B SMARCB1 PCAT14 ZNF70 POM121L10P GUSBP11 BCRP3 GGT5 GSTT2B GUCD1 GSTTP1 RGL4 LOC101929374 MIF-AS1 UPB1 SPECC1L-ADORA2A DDTL MIF IGLL1 SNRPD3 LOC100652871 GGT1

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