Hs00735645_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23787198 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 Exon 1 - 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 ZNF70 ADORA2A GUCD1 LRRC75B GSTTP1 DERL3 C22orf15 SNRPD3 LOC388882 GSTT2B LOC100652871 SPECC1L CHCHD10 MIF-AS1 GUSBP11 MMP11 MIF SLC2A11 DDTL GGT1 CABIN1 PCAT14 LOC107985559 POM121L9P DRICH1 LOC107985555 SPECC1L-ADORA2A DDT LOC101929374 IGLL1 GSTT2 GGT5 SUSD2 RGL4 UPB1 CES5AP1 SMARCB1 VPREB3
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	PCAT14 LOC107985559 DRICH1 ZNF70 DDT IGLL1 GSTT2 RGL4 DERL3 C22orf15 GSTT2B LOC100652871 CHCHD10 MIF-AS1 GUSBP11 MMP11 MIF SMARCB1 VPREB3 SLC2A11 DDTL
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	ZDHHC8P1 ADORA2A-AS1 ZNF70 POM121L10P ADORA2A GUCD1 BCRP3 LRRC75B BCR GSTTP1 DERL3 C22orf15 SNRPD3 LOC388882 GSTT2B LOC100652871 SPECC1L CHCHD10 MIF-AS1 GUSBP11 MMP11 MIF SLC2A11 DDTL GGT1 CABIN1 PCAT14 LOC107985559 POM121L9P DRICH1 LOC107985555 SPECC1L-ADORA2A DDT LOC101929374 IGLL1 GSTT2 GGT5 SUSD2 RGL4 UPB1 CES5AP1 SMARCB1 VPREB3
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	ZDHHC8P1 ADORA2A-AS1 ZNF70 ADORA2A GUCD1 LRRC75B GSTTP1 DERL3 C22orf15 SNRPD3 LOC388882 GSTT2B LOC100652871 SPECC1L CHCHD10 MIF-AS1 GUSBP11 MMP11 MIF SLC2A11 DDTL GGT1 CABIN1 PCAT14 LOC107985559 POM121L9P DRICH1 LOC107985555 SPECC1L-ADORA2A DDT LOC101929374 IGLL1 GSTT2 GGT5 SUSD2 RGL4 UPB1 CES5AP1 SMARCB1 VPREB3
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	PCAT14 DRICH1 ZNF70 LOC101929374 IGLL1 RGL4 DERL3 C22orf15 LOC388882 CHCHD10 MIF-AS1 GUSBP11 MMP11 MIF SMARCB1 VPREB3 SLC2A11
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	ZDHHC8P1 IGLC1 ZNF70 BCR IGLV3-21 DERL3 C22orf15 LOC388882 IGLL5 GSTT2B LOC100652871 CHCHD10 MIF-AS1 GUSBP11 MMP11 MIF SLC2A11 DDTL FBXW4P1 PCAT14 LOC107985559 DRICH1 LOC107985555 IGLV2-5 DDT RAB36 LOC101929374 IGLL1 GSTT2 IGLV3-19 IGLV4-3 RGL4 IGLJ3 MIR650 IGLV3-25 RSPH14 CES5AP1 MIR5571 SMARCB1 VPREB3 GNAZ
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	ZDHHC8P1 ADORA2A-AS1 ZNF70 POM121L10P ADORA2A GUCD1 BCRP3 LRRC75B GSTTP1 DERL3 C22orf15 SNRPD3 LOC388882 GSTT2B LOC100652871 SPECC1L CHCHD10 MIF-AS1 GUSBP11 MMP11 MIF SLC2A11 DDTL GGT1 CABIN1 PCAT14 LOC107985559 POM121L9P DRICH1 LOC107985555 SPECC1L-ADORA2A DDT LOC101929374 IGLL1 GSTT2 GGT5 SUSD2 RGL4 UPB1 CES5AP1 SMARCB1 VPREB3
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	ZDHHC8P1 IGLC1 ZNF70 BCR IGLV3-21 GSTTP1 DERL3 C22orf15 LOC388882 IGLL5 GSTT2B LOC100652871 CHCHD10 GGTLC2 MIF-AS1 GUSBP11 MMP11 MIF SLC2A11 DDTL FBXW4P1 PCAT14 LOC107985559 DRICH1 LOC107985555 IGLV2-5 DDT RAB36 LOC101929374 IGLL1 GSTT2 POM121L1P IGLV3-19 IGLV4-3 RGL4 IGLJ3 MIR650 IGLV3-25 RSPH14 CES5AP1 MIR5571 SMARCB1 VPREB3 GNAZ
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	ZDHHC8P1 ADORA2A-AS1 ZNF70 POM121L10P ADORA2A GUCD1 BCRP3 LRRC75B GSTTP1 DERL3 C22orf15 SNRPD3 LOC388882 GSTT2B LOC100652871 SPECC1L CHCHD10 MIF-AS1 GUSBP11 MMP11 MIF SLC2A11 DDTL GGT1 CABIN1 PCAT14 LOC107985559 POM121L9P DRICH1 LOC107985555 SPECC1L-ADORA2A DDT LOC101929374 IGLL1 GSTT2 GGT5 SUSD2 RGL4 UPB1 CES5AP1 SMARCB1 VPREB3

More Information

• Set Membership: Intragenic, 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