Hs01497967_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23800990 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMARCB1	NM_001007468.2	4	621	NP_001007469.1
	NM_001317946.1	4	621	NP_001304875.1
	NM_003073.4	4	648	NP_003064.2
	XM_011530345.2	4	617	XP_011528647.1
	AB017523.1	4	382	BAC77068.1
	AJ011737.1	4	556	CAA09758.1
	AJ011738.1	4	529	CAA09759.1
	AK021419.1	4	554
	AK024025.1	4	589	BAB14784.1
	AK299411.1	4	578
	AK303620.1	4	572
	AL389878.1	4	458
	AU143041.1	4	589
	AY207470.1			AAO59166.1
	AY207471.1			AAO59167.1
	AY562997.1	2	83	AAS75587.1
	BC117114.1	4	437
	BC143667.1	4	437
	BG705851.1	4	594
	CB161660.1	2	67
	CR456581.1	4	462	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 C22orf15 SNRPD3 GGT1 CABIN1 LOC101929374 RGL4 ADORA2A LOC100652871 GUSBP11 SPECC1L SLC2A11 SMARCB1 CES5AP1 DRICH1 VPREB3 ADORA2A-AS1 POM121L9P ZNF70 LOC107985559 GUCD1 CHCHD10 MIF-AS1 UPB1 ZDHHC8P1 IGLL1 GGT5 LRRC75B LOC107985555 GSTT2B DDT PCAT14 GSTTP1 GSTT2 DERL3 SUSD2 DDTL LOC388882 SPECC1L-ADORA2A MIF
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	MMP11 CHCHD10 C22orf15 MIF-AS1 IGLL1 RGL4 GSTT2B DDT PCAT14 LOC100652871 GSTT2 DERL3 GUSBP11 SLC2A11 DDTL SMARCB1 MIF DRICH1 VPREB3 ZNF70 LOC107985559
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	MMP11 C22orf15 SNRPD3 GGT1 CABIN1 LOC101929374 RGL4 ADORA2A LOC100652871 GUSBP11 SPECC1L SLC2A11 SMARCB1 CES5AP1 DRICH1 VPREB3 ADORA2A-AS1 POM121L9P ZNF70 LOC107985559 GUCD1 CHCHD10 MIF-AS1 UPB1 ZDHHC8P1 IGLL1 GGT5 LRRC75B LOC107985555 GSTT2B DDT PCAT14 GSTTP1 GSTT2 DERL3 SUSD2 DDTL LOC388882 SPECC1L-ADORA2A MIF
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	MMP11 C22orf15 SNRPD3 GGT1 CABIN1 LOC101929374 RGL4 ADORA2A LOC100652871 GUSBP11 POM121L10P SPECC1L SLC2A11 SMARCB1 BCR CES5AP1 BCRP3 DRICH1 VPREB3 ADORA2A-AS1 POM121L9P ZNF70 LOC107985559 GUCD1 CHCHD10 MIF-AS1 UPB1 ZDHHC8P1 IGLL1 GGT5 LRRC75B LOC107985555 GSTT2B DDT PCAT14 GSTTP1 GSTT2 DERL3 SUSD2 DDTL LOC388882 SPECC1L-ADORA2A MIF
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	MMP11 CHCHD10 C22orf15 MIF-AS1 IGLL1 LOC101929374 RGL4 PCAT14 DERL3 GUSBP11 SLC2A11 LOC388882 SMARCB1 MIF DRICH1 VPREB3 ZNF70
esv3575444	Chr.22:23795497 - 24001082 on Build GRCh38	Gain	LOC100652871 GSTTP1 GSTT2 DERL3 MIF-AS1 SLC2A11 DDTL SMARCB1 MIF GSTT2B DDT LOC107985559
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	MMP11 C22orf15 SNRPD3 GGT1 CABIN1 LOC101929374 RGL4 ADORA2A LOC100652871 GUSBP11 POM121L10P SPECC1L SLC2A11 SMARCB1 CES5AP1 BCRP3 DRICH1 VPREB3 ADORA2A-AS1 POM121L9P ZNF70 LOC107985559 GUCD1 CHCHD10 MIF-AS1 UPB1 ZDHHC8P1 IGLL1 GGT5 LRRC75B LOC107985555 GSTT2B DDT PCAT14 GSTTP1 GSTT2 DERL3 SUSD2 DDTL LOC388882 SPECC1L-ADORA2A MIF
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	MMP11 C22orf15 RSPH14 LOC101929374 RGL4 GNAZ IGLV2-5 MIR5571 LOC100652871 GUSBP11 IGLL5 SLC2A11 SMARCB1 BCR CES5AP1 MIR650 IGLV3-21 DRICH1 RAB36 VPREB3 IGLV4-3 ZNF70 LOC107985559 IGLC1 CHCHD10 MIF-AS1 ZDHHC8P1 IGLL1 LOC107985555 GSTT2B DDT PCAT14 GSTT2 DERL3 IGLV3-19 IGLJ3 FBXW4P1 DDTL LOC388882 IGLV3-25 MIF
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	MMP11 C22orf15 RSPH14 LOC101929374 RGL4 GNAZ IGLV2-5 MIR5571 LOC100652871 GUSBP11 IGLL5 SLC2A11 SMARCB1 BCR CES5AP1 MIR650 IGLV3-21 POM121L1P DRICH1 RAB36 VPREB3 IGLV4-3 ZNF70 LOC107985559 IGLC1 CHCHD10 MIF-AS1 ZDHHC8P1 IGLL1 LOC107985555 GSTT2B DDT PCAT14 GSTTP1 GSTT2 DERL3 IGLV3-19 IGLJ3 FBXW4P1 DDTL LOC388882 IGLV3-25 MIF GGTLC2
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	MMP11 C22orf15 SNRPD3 GGT1 CABIN1 LOC101929374 RGL4 ADORA2A LOC100652871 GUSBP11 POM121L10P SPECC1L SLC2A11 SMARCB1 CES5AP1 BCRP3 DRICH1 VPREB3 ADORA2A-AS1 POM121L9P ZNF70 LOC107985559 GUCD1 CHCHD10 MIF-AS1 UPB1 ZDHHC8P1 IGLL1 GGT5 LRRC75B LOC107985555 GSTT2B DDT PCAT14 GSTTP1 GSTT2 DERL3 SUSD2 DDTL LOC388882 SPECC1L-ADORA2A MIF

More Information

• Set Membership: Intragenic, 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