Hs00864029_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23793608 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 2 - Exon 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
	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	C22orf15 POM121L9P SMARCB1 DERL3 LOC100652871 CES5AP1 SPECC1L SPECC1L-ADORA2A RGL4 CABIN1 GSTT2 ADORA2A-AS1 IGLL1 ZNF70 PCAT14 MMP11 MIF SNRPD3 VPREB3 GSTT2B LOC101929374 GGT5 ADORA2A UPB1 GGT1 DDTL LOC107985555 LOC388882 DDT GUCD1 GSTTP1 DRICH1 LOC107985559 MIF-AS1 ZDHHC8P1 GUSBP11 CHCHD10 SLC2A11 LRRC75B SUSD2
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	C22orf15 SMARCB1 DERL3 LOC100652871 DDT RGL4 GSTT2 DRICH1 LOC107985559 MIF-AS1 IGLL1 ZNF70 PCAT14 MMP11 MIF VPREB3 GUSBP11 GSTT2B CHCHD10 SLC2A11 DDTL
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	C22orf15 POM121L9P SMARCB1 POM121L10P DERL3 LOC100652871 CES5AP1 SPECC1L SPECC1L-ADORA2A RGL4 CABIN1 GSTT2 ADORA2A-AS1 BCR IGLL1 ZNF70 PCAT14 MMP11 MIF SNRPD3 VPREB3 GSTT2B LOC101929374 GGT5 ADORA2A UPB1 GGT1 DDTL LOC107985555 LOC388882 DDT GUCD1 GSTTP1 DRICH1 LOC107985559 MIF-AS1 ZDHHC8P1 BCRP3 GUSBP11 CHCHD10 SLC2A11 LRRC75B SUSD2
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	C22orf15 POM121L9P SMARCB1 DERL3 LOC100652871 CES5AP1 SPECC1L SPECC1L-ADORA2A RGL4 CABIN1 GSTT2 ADORA2A-AS1 IGLL1 ZNF70 PCAT14 MMP11 MIF SNRPD3 VPREB3 GSTT2B LOC101929374 GGT5 ADORA2A UPB1 GGT1 DDTL LOC107985555 LOC388882 DDT GUCD1 GSTTP1 DRICH1 LOC107985559 MIF-AS1 ZDHHC8P1 GUSBP11 CHCHD10 SLC2A11 LRRC75B SUSD2
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	C22orf15 SMARCB1 LOC388882 DERL3 RGL4 DRICH1 MIF-AS1 IGLL1 ZNF70 PCAT14 MMP11 MIF VPREB3 GUSBP11 LOC101929374 CHCHD10 SLC2A11
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	C22orf15 GNAZ SMARCB1 DERL3 LOC100652871 CES5AP1 RGL4 GSTT2 BCR MIR5571 IGLL1 ZNF70 PCAT14 MMP11 MIF VPREB3 GSTT2B LOC101929374 IGLV3-21 DDTL LOC107985555 RAB36 LOC388882 DDT IGLJ3 IGLL5 FBXW4P1 IGLC1 RSPH14 IGLV2-5 MIR650 IGLV3-25 DRICH1 LOC107985559 MIF-AS1 ZDHHC8P1 GUSBP11 CHCHD10 IGLV3-19 SLC2A11 IGLV4-3
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	C22orf15 POM121L9P SMARCB1 POM121L10P DERL3 LOC100652871 CES5AP1 SPECC1L SPECC1L-ADORA2A RGL4 CABIN1 GSTT2 ADORA2A-AS1 IGLL1 ZNF70 PCAT14 MMP11 MIF SNRPD3 VPREB3 GSTT2B LOC101929374 GGT5 ADORA2A UPB1 GGT1 DDTL LOC107985555 LOC388882 DDT GUCD1 GSTTP1 DRICH1 LOC107985559 MIF-AS1 ZDHHC8P1 BCRP3 GUSBP11 CHCHD10 SLC2A11 LRRC75B SUSD2
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	POM121L1P C22orf15 GNAZ SMARCB1 DERL3 LOC100652871 CES5AP1 RGL4 GSTT2 BCR MIR5571 IGLL1 ZNF70 PCAT14 MMP11 MIF VPREB3 GSTT2B LOC101929374 IGLV3-21 DDTL LOC107985555 RAB36 LOC388882 DDT IGLJ3 GGTLC2 IGLL5 FBXW4P1 IGLC1 RSPH14 IGLV2-5 MIR650 IGLV3-25 GSTTP1 DRICH1 LOC107985559 MIF-AS1 ZDHHC8P1 GUSBP11 CHCHD10 IGLV3-19 SLC2A11 IGLV4-3
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	C22orf15 POM121L9P SMARCB1 POM121L10P DERL3 LOC100652871 CES5AP1 SPECC1L SPECC1L-ADORA2A RGL4 CABIN1 GSTT2 ADORA2A-AS1 IGLL1 ZNF70 PCAT14 MMP11 MIF SNRPD3 VPREB3 GSTT2B LOC101929374 GGT5 ADORA2A UPB1 GGT1 DDTL LOC107985555 LOC388882 DDT GUCD1 GSTTP1 DRICH1 LOC107985559 MIF-AS1 ZDHHC8P1 BCRP3 GUSBP11 CHCHD10 SLC2A11 LRRC75B SUSD2

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