Hs05561208_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23788326 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 1

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

More Information

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

Panther Classification:

Molecular Function -

DNA 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