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

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