Hs05558226_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23790336 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	SUSD2 C22orf15 DDT CABIN1 LOC388882 RGL4 LOC100652871 ADORA2A-AS1 PCAT14 GGT1 ZDHHC8P1 ADORA2A ZNF70 GSTTP1 LOC101929374 GSTT2 LOC107985559 CES5AP1 VPREB3 MMP11 SPECC1L-ADORA2A UPB1 DDTL SLC2A11 SNRPD3 CHCHD10 DRICH1 MIF-AS1 GUCD1 GSTT2B SMARCB1 SPECC1L LRRC75B MIF POM121L9P GUSBP11 GGT5 LOC107985555 IGLL1 DERL3
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	MMP11 C22orf15 DDT DDTL SLC2A11 RGL4 LOC100652871 CHCHD10 PCAT14 DRICH1 MIF-AS1 GSTT2B SMARCB1 ZNF70 MIF GUSBP11 GSTT2 LOC107985559 IGLL1 DERL3 VPREB3
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	SUSD2 C22orf15 DDT CABIN1 BCR LOC388882 RGL4 LOC100652871 ADORA2A-AS1 PCAT14 GGT1 ZDHHC8P1 ADORA2A ZNF70 GSTTP1 LOC101929374 GSTT2 LOC107985559 CES5AP1 VPREB3 MMP11 SPECC1L-ADORA2A UPB1 DDTL SLC2A11 SNRPD3 CHCHD10 DRICH1 MIF-AS1 GUCD1 GSTT2B SMARCB1 SPECC1L LRRC75B MIF POM121L9P GUSBP11 POM121L10P GGT5 BCRP3 LOC107985555 IGLL1 DERL3
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	SUSD2 C22orf15 DDT CABIN1 LOC388882 RGL4 LOC100652871 ADORA2A-AS1 PCAT14 GGT1 ZDHHC8P1 ADORA2A ZNF70 GSTTP1 LOC101929374 GSTT2 LOC107985559 CES5AP1 VPREB3 MMP11 SPECC1L-ADORA2A UPB1 DDTL SLC2A11 SNRPD3 CHCHD10 DRICH1 MIF-AS1 GUCD1 GSTT2B SMARCB1 SPECC1L LRRC75B MIF POM121L9P GUSBP11 GGT5 LOC107985555 IGLL1 DERL3
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	MMP11 C22orf15 SLC2A11 LOC388882 RGL4 CHCHD10 PCAT14 DRICH1 MIF-AS1 SMARCB1 ZNF70 LOC101929374 MIF GUSBP11 IGLL1 DERL3 VPREB3
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	IGLV3-21 C22orf15 DDT BCR IGLV2-5 IGLC1 LOC388882 RGL4 LOC100652871 PCAT14 MIR5571 ZDHHC8P1 ZNF70 LOC101929374 IGLL5 GSTT2 LOC107985559 CES5AP1 VPREB3 IGLV3-19 MMP11 RSPH14 IGLV3-25 IGLV4-3 DDTL FBXW4P1 SLC2A11 GNAZ RAB36 CHCHD10 DRICH1 MIF-AS1 GSTT2B MIR650 SMARCB1 MIF GUSBP11 LOC107985555 IGLL1 DERL3 IGLJ3
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	SUSD2 C22orf15 DDT CABIN1 LOC388882 RGL4 LOC100652871 ADORA2A-AS1 PCAT14 GGT1 ZDHHC8P1 ADORA2A ZNF70 GSTTP1 LOC101929374 GSTT2 LOC107985559 CES5AP1 VPREB3 MMP11 SPECC1L-ADORA2A UPB1 DDTL SLC2A11 SNRPD3 CHCHD10 DRICH1 MIF-AS1 GUCD1 GSTT2B SMARCB1 SPECC1L LRRC75B MIF POM121L9P GUSBP11 POM121L10P GGT5 BCRP3 LOC107985555 IGLL1 DERL3
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	IGLV3-21 C22orf15 DDT BCR IGLV2-5 IGLC1 LOC388882 RGL4 LOC100652871 PCAT14 MIR5571 ZDHHC8P1 ZNF70 GSTTP1 LOC101929374 IGLL5 GSTT2 LOC107985559 CES5AP1 VPREB3 POM121L1P IGLV3-19 MMP11 RSPH14 IGLV3-25 IGLV4-3 DDTL FBXW4P1 SLC2A11 GNAZ RAB36 CHCHD10 GGTLC2 DRICH1 MIF-AS1 GSTT2B MIR650 SMARCB1 MIF GUSBP11 LOC107985555 IGLL1 DERL3 IGLJ3
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	SUSD2 C22orf15 DDT CABIN1 LOC388882 RGL4 LOC100652871 ADORA2A-AS1 PCAT14 GGT1 ZDHHC8P1 ADORA2A ZNF70 GSTTP1 LOC101929374 GSTT2 LOC107985559 CES5AP1 VPREB3 MMP11 SPECC1L-ADORA2A UPB1 DDTL SLC2A11 SNRPD3 CHCHD10 DRICH1 MIF-AS1 GUCD1 GSTT2B SMARCB1 SPECC1L LRRC75B MIF POM121L9P GUSBP11 POM121L10P GGT5 BCRP3 LOC107985555 IGLL1 DERL3

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