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See other SMARCB1 CNV Assays ›
Gene Symbol
SMARCB1
Assay Reference Genome
Location

Chr.22:23787079 on build GRCh38
Cytoband
22q11.23
Assay ID Hs02354103_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

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 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SMARCB1 NM_001007468.2 1 149 NP_001007469.1
NM_001317946.1 1 149 NP_001304875.1
NM_003073.4 1 149 NP_003064.2
XM_011530345.2 1 118 XP_011528647.1
AJ011737.1 1 57 CAA09758.1
AJ011738.1 1 57 CAA09759.1
AK021419.1 1 82
AK024025.1 1 117 BAB14784.1
AK299411.1 1 79
AK303620.1 1 100
AL389878.1
AU143041.1 1 117
BC117114.1
BC143667.1
BG705851.1 1 122
CR456581.1 CAG30467.1
HY013730.1 1 151

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

DNA metabolism protein

Gene Ontology Categories:

Function(s) Process(es)


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