Hs05589337_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23798623 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 3

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
	AY562997.1			AAS75587.1
	BC117114.1
	BC143667.1
	BG705851.1
	CB161660.1
	CR456581.1			CAG30467.1

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	MMP11 LRRC75B IGLL1 LOC107985555 VPREB3 GGT1 LOC107985559 MIF LOC388882 CES5AP1 SLC2A11 GUCD1 SUSD2 SNRPD3 ZNF70 CABIN1 DERL3 GSTT2 PCAT14 LOC100652871 GUSBP11 SPECC1L CHCHD10 ZDHHC8P1 DDT POM121L9P RGL4 DRICH1 GGT5 ADORA2A-AS1 DDTL UPB1 GSTT2B LOC101929374 C22orf15 ADORA2A SMARCB1 GSTTP1 MIF-AS1 SPECC1L-ADORA2A
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	MMP11 IGLL1 VPREB3 GUSBP11 LOC107985559 CHCHD10 DDT MIF RGL4 DRICH1 SLC2A11 DDTL GSTT2B C22orf15 ZNF70 DERL3 GSTT2 PCAT14 SMARCB1 LOC100652871 MIF-AS1
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	MMP11 LRRC75B IGLL1 LOC107985555 VPREB3 GGT1 LOC107985559 BCR MIF LOC388882 BCRP3 CES5AP1 SLC2A11 GUCD1 SUSD2 SNRPD3 ZNF70 CABIN1 DERL3 GSTT2 PCAT14 LOC100652871 GUSBP11 SPECC1L CHCHD10 ZDHHC8P1 DDT POM121L9P RGL4 POM121L10P DRICH1 GGT5 ADORA2A-AS1 DDTL UPB1 GSTT2B LOC101929374 C22orf15 ADORA2A SMARCB1 GSTTP1 MIF-AS1 SPECC1L-ADORA2A
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	MMP11 LRRC75B IGLL1 LOC107985555 VPREB3 GGT1 LOC107985559 MIF LOC388882 CES5AP1 SLC2A11 GUCD1 SUSD2 SNRPD3 ZNF70 CABIN1 DERL3 GSTT2 PCAT14 LOC100652871 GUSBP11 SPECC1L CHCHD10 ZDHHC8P1 DDT POM121L9P RGL4 DRICH1 GGT5 ADORA2A-AS1 DDTL UPB1 GSTT2B LOC101929374 C22orf15 ADORA2A SMARCB1 GSTTP1 MIF-AS1 SPECC1L-ADORA2A
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	MMP11 IGLL1 VPREB3 GUSBP11 CHCHD10 MIF LOC388882 RGL4 DRICH1 SLC2A11 LOC101929374 C22orf15 ZNF70 DERL3 PCAT14 SMARCB1 MIF-AS1
esv3575444	Chr.22:23795497 - 24001082 on Build GRCh38	Gain	SLC2A11 DDTL LOC107985559 GSTT2B DDT MIF DERL3 GSTT2 SMARCB1 LOC100652871 GSTTP1 MIF-AS1
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	MMP11 IGLL1 LOC107985555 VPREB3 LOC107985559 FBXW4P1 RSPH14 BCR IGLV3-25 MIF LOC388882 MIR5571 IGLC1 CES5AP1 IGLL5 SLC2A11 IGLV3-19 ZNF70 DERL3 GSTT2 PCAT14 LOC100652871 GNAZ RAB36 GUSBP11 MIR650 CHCHD10 ZDHHC8P1 DDT IGLV2-5 RGL4 DRICH1 IGLV4-3 DDTL IGLV3-21 GSTT2B LOC101929374 C22orf15 IGLJ3 SMARCB1 MIF-AS1
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	MMP11 LRRC75B IGLL1 LOC107985555 VPREB3 GGT1 LOC107985559 MIF LOC388882 BCRP3 CES5AP1 SLC2A11 GUCD1 SUSD2 SNRPD3 ZNF70 CABIN1 DERL3 GSTT2 PCAT14 LOC100652871 GUSBP11 SPECC1L CHCHD10 ZDHHC8P1 DDT POM121L9P RGL4 POM121L10P DRICH1 GGT5 ADORA2A-AS1 DDTL UPB1 GSTT2B LOC101929374 C22orf15 ADORA2A SMARCB1 GSTTP1 MIF-AS1 SPECC1L-ADORA2A
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	MMP11 IGLL1 LOC107985555 VPREB3 LOC107985559 GGTLC2 FBXW4P1 RSPH14 BCR IGLV3-25 MIF LOC388882 MIR5571 IGLC1 CES5AP1 IGLL5 SLC2A11 IGLV3-19 ZNF70 DERL3 GSTT2 PCAT14 LOC100652871 GNAZ RAB36 GUSBP11 MIR650 CHCHD10 ZDHHC8P1 DDT IGLV2-5 RGL4 DRICH1 IGLV4-3 DDTL IGLV3-21 GSTT2B LOC101929374 C22orf15 IGLJ3 POM121L1P SMARCB1 GSTTP1 MIF-AS1
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	MMP11 LRRC75B IGLL1 LOC107985555 VPREB3 GGT1 LOC107985559 MIF LOC388882 BCRP3 CES5AP1 SLC2A11 GUCD1 SUSD2 SNRPD3 ZNF70 CABIN1 DERL3 GSTT2 PCAT14 LOC100652871 GUSBP11 SPECC1L CHCHD10 ZDHHC8P1 DDT POM121L9P RGL4 POM121L10P DRICH1 GGT5 ADORA2A-AS1 DDTL UPB1 GSTT2B LOC101929374 C22orf15 ADORA2A SMARCB1 GSTTP1 MIF-AS1 SPECC1L-ADORA2A

More Information

• Set Membership: Intragenic, Intronic, 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