Hs01110129_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23791778 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: Overlaps Intron 1 - Exon 2

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

More Information

• Set Membership: Intragenic, 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