Hs00229005_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23801102 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 4 - Intron 4

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	4	690
	AK303620.1	4	684
	AL389878.1
	AU143041.1
	AY207470.1			AAO59166.1
	AY207471.1			AAO59167.1
	AY562997.1			AAS75587.1
	BC117114.1
	BC143667.1
	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	LOC107985559 DRICH1 ZDHHC8P1 DERL3 MIF-AS1 UPB1 SPECC1L-ADORA2A LOC101929374 POM121L9P MIF RGL4 CES5AP1 DDT SMARCB1 GGT1 DDTL ADORA2A-AS1 IGLL1 GSTT2 GSTT2B CABIN1 LOC100652871 PCAT14 LOC388882 SPECC1L GGT5 ADORA2A LRRC75B VPREB3 GUSBP11 LOC107985555 CHCHD10 GUCD1 MMP11 GSTTP1 C22orf15 SLC2A11 ZNF70 SNRPD3 SUSD2
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	LOC107985559 DRICH1 LOC100652871 DERL3 PCAT14 MIF-AS1 VPREB3 GUSBP11 CHCHD10 MIF RGL4 MMP11 DDT C22orf15 SMARCB1 DDTL IGLL1 SLC2A11 ZNF70 GSTT2 GSTT2B
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	LOC107985559 DRICH1 ZDHHC8P1 DERL3 MIF-AS1 UPB1 SPECC1L-ADORA2A LOC101929374 POM121L9P MIF RGL4 CES5AP1 DDT SMARCB1 GGT1 DDTL ADORA2A-AS1 IGLL1 GSTT2 GSTT2B CABIN1 LOC100652871 PCAT14 LOC388882 SPECC1L GGT5 ADORA2A LRRC75B VPREB3 GUSBP11 LOC107985555 CHCHD10 GUCD1 MMP11 GSTTP1 C22orf15 SLC2A11 ZNF70 SNRPD3 SUSD2
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	LOC107985559 DRICH1 BCR ZDHHC8P1 POM121L10P DERL3 MIF-AS1 UPB1 SPECC1L-ADORA2A LOC101929374 POM121L9P MIF RGL4 CES5AP1 DDT SMARCB1 GGT1 DDTL ADORA2A-AS1 BCRP3 IGLL1 GSTT2 GSTT2B CABIN1 LOC100652871 PCAT14 LOC388882 SPECC1L GGT5 ADORA2A LRRC75B VPREB3 GUSBP11 LOC107985555 CHCHD10 GUCD1 MMP11 GSTTP1 C22orf15 SLC2A11 ZNF70 SNRPD3 SUSD2
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	DRICH1 DERL3 PCAT14 LOC388882 MIF-AS1 VPREB3 LOC101929374 GUSBP11 CHCHD10 MIF RGL4 MMP11 C22orf15 SMARCB1 IGLL1 SLC2A11 ZNF70
esv3575444	Chr.22:23795497 - 24001082 on Build GRCh38	Gain	LOC107985559 GSTTP1 LOC100652871 DERL3 DDT SMARCB1 DDTL SLC2A11 MIF-AS1 GSTT2 MIF GSTT2B
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	LOC107985559 DRICH1 ZDHHC8P1 POM121L10P DERL3 MIF-AS1 UPB1 SPECC1L-ADORA2A LOC101929374 POM121L9P MIF RGL4 CES5AP1 DDT SMARCB1 GGT1 DDTL ADORA2A-AS1 BCRP3 IGLL1 GSTT2 GSTT2B CABIN1 LOC100652871 PCAT14 LOC388882 SPECC1L GGT5 ADORA2A LRRC75B VPREB3 GUSBP11 LOC107985555 CHCHD10 GUCD1 MMP11 GSTTP1 C22orf15 SLC2A11 ZNF70 SNRPD3 SUSD2
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	LOC107985559 DRICH1 FBXW4P1 BCR ZDHHC8P1 DERL3 MIF-AS1 MIR650 LOC101929374 IGLL5 MIF RGL4 CES5AP1 DDT SMARCB1 DDTL RSPH14 IGLL1 GSTT2 GSTT2B IGLV3-25 LOC100652871 PCAT14 LOC388882 RAB36 VPREB3 GUSBP11 LOC107985555 CHCHD10 IGLV2-5 MMP11 IGLV3-21 IGLV4-3 C22orf15 MIR5571 SLC2A11 IGLC1 ZNF70 IGLV3-19 IGLJ3 GNAZ
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	LOC107985559 DRICH1 FBXW4P1 BCR ZDHHC8P1 DERL3 GGTLC2 MIF-AS1 MIR650 LOC101929374 IGLL5 MIF RGL4 CES5AP1 DDT SMARCB1 DDTL RSPH14 IGLL1 GSTT2 GSTT2B IGLV3-25 LOC100652871 PCAT14 LOC388882 RAB36 VPREB3 GUSBP11 POM121L1P LOC107985555 CHCHD10 IGLV2-5 MMP11 IGLV3-21 GSTTP1 IGLV4-3 C22orf15 MIR5571 SLC2A11 IGLC1 ZNF70 IGLV3-19 IGLJ3 GNAZ
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	LOC107985559 DRICH1 ZDHHC8P1 POM121L10P DERL3 MIF-AS1 UPB1 SPECC1L-ADORA2A LOC101929374 POM121L9P MIF RGL4 CES5AP1 DDT SMARCB1 GGT1 DDTL ADORA2A-AS1 BCRP3 IGLL1 GSTT2 GSTT2B CABIN1 LOC100652871 PCAT14 LOC388882 SPECC1L GGT5 ADORA2A LRRC75B VPREB3 GUSBP11 LOC107985555 CHCHD10 GUCD1 MMP11 GSTTP1 C22orf15 SLC2A11 ZNF70 SNRPD3 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