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

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