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

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