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

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