Hs05565862_cn

• Gene Symbol: SMARCB1
• Assay Reference Genome Location: Chr.22:23796677 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 3

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
	AY207470.1			AAO59166.1
	AY207471.1			AAO59167.1
	AY562997.1			AAS75587.1
	BC117114.1
	BC143667.1
	BG705851.1
	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	ADORA2A LRRC75B GUSBP11 GSTT2B CES5AP1 LOC101929374 LOC107985559 LOC100652871 C22orf15 GGT5 ADORA2A-AS1 ZDHHC8P1 DERL3 DRICH1 UPB1 MIF-AS1 GSTT2 CABIN1 LOC107985555 VPREB3 MIF IGLL1 PCAT14 SPECC1L-ADORA2A ZNF70 SMARCB1 SLC2A11 RGL4 GSTTP1 DDTL GUCD1 GGT1 SUSD2 SNRPD3 SPECC1L CHCHD10 LOC388882 POM121L9P MMP11 DDT
esv3893461	Chr.22:23509514 - 23995877 on Build GRCh38	Gain	VPREB3 MIF IGLL1 PCAT14 GUSBP11 GSTT2B ZNF70 SMARCB1 SLC2A11 RGL4 DDTL LOC107985559 LOC100652871 C22orf15 DERL3 DRICH1 MIF-AS1 GSTT2 CHCHD10 MMP11 DDT
nsv526567	Chr.22:23348138 - 24600663 on Build GRCh38	Gain	ADORA2A LRRC75B GUSBP11 GSTT2B CES5AP1 LOC101929374 LOC107985559 LOC100652871 C22orf15 GGT5 ADORA2A-AS1 ZDHHC8P1 DERL3 DRICH1 UPB1 MIF-AS1 GSTT2 CABIN1 LOC107985555 VPREB3 MIF IGLL1 PCAT14 SPECC1L-ADORA2A ZNF70 SMARCB1 SLC2A11 RGL4 GSTTP1 DDTL GUCD1 GGT1 SUSD2 SNRPD3 SPECC1L CHCHD10 LOC388882 POM121L9P MMP11 DDT
esv2724041	Chr.22:23315914 - 24669376 on Build GRCh38	Deletion	ADORA2A LRRC75B GUSBP11 GSTT2B CES5AP1 LOC101929374 LOC107985559 LOC100652871 C22orf15 GGT5 ADORA2A-AS1 ZDHHC8P1 DERL3 DRICH1 POM121L10P UPB1 MIF-AS1 GSTT2 CABIN1 LOC107985555 VPREB3 BCR MIF IGLL1 PCAT14 SPECC1L-ADORA2A ZNF70 SMARCB1 SLC2A11 RGL4 BCRP3 GSTTP1 DDTL GUCD1 GGT1 SUSD2 SNRPD3 SPECC1L CHCHD10 LOC388882 POM121L9P MMP11 DDT
nsv1062411	Chr.22:23407914 - 23922609 on Build GRCh38	Gain	VPREB3 MIF IGLL1 PCAT14 GUSBP11 ZNF70 SMARCB1 SLC2A11 RGL4 LOC101929374 C22orf15 DERL3 DRICH1 MIF-AS1 CHCHD10 LOC388882 MMP11
esv3575444	Chr.22:23795497 - 24001082 on Build GRCh38	Gain	LOC107985559 LOC100652871 MIF DERL3 GSTT2B MIF-AS1 SMARCB1 GSTT2 SLC2A11 GSTTP1 DDT DDTL
dgv4528n100	Chr.22:23322244 - 24682765 on Build GRCh38	Gain	ADORA2A LRRC75B GUSBP11 GSTT2B CES5AP1 LOC101929374 LOC107985559 LOC100652871 C22orf15 GGT5 ADORA2A-AS1 ZDHHC8P1 DERL3 DRICH1 POM121L10P UPB1 MIF-AS1 GSTT2 CABIN1 LOC107985555 VPREB3 MIF IGLL1 PCAT14 SPECC1L-ADORA2A ZNF70 SMARCB1 SLC2A11 RGL4 BCRP3 GSTTP1 DDTL GUCD1 GGT1 SUSD2 SNRPD3 SPECC1L CHCHD10 LOC388882 POM121L9P MMP11 DDT
esv3893457	Chr.22:22657560 - 23995877 on Build GRCh38	Gain	MIR650 IGLV3-21 GUSBP11 FBXW4P1 GSTT2B CES5AP1 RAB36 IGLL5 LOC101929374 IGLV4-3 IGLC1 LOC107985559 LOC100652871 C22orf15 GNAZ ZDHHC8P1 DERL3 DRICH1 MIR5571 MIF-AS1 GSTT2 LOC107985555 VPREB3 IGLV3-19 BCR MIF IGLL1 PCAT14 ZNF70 SMARCB1 SLC2A11 RGL4 DDTL IGLV3-25 IGLV2-5 IGLJ3 CHCHD10 LOC388882 MMP11 DDT RSPH14
nsv1066891	Chr.22:22611045 - 24001082 on Build GRCh38	Gain	MIR650 IGLV3-21 GUSBP11 FBXW4P1 GSTT2B CES5AP1 RAB36 GGTLC2 IGLL5 LOC101929374 IGLV4-3 IGLC1 LOC107985559 LOC100652871 C22orf15 GNAZ ZDHHC8P1 DERL3 DRICH1 MIR5571 MIF-AS1 GSTT2 LOC107985555 VPREB3 IGLV3-19 BCR MIF IGLL1 PCAT14 ZNF70 SMARCB1 SLC2A11 RGL4 GSTTP1 DDTL IGLV3-25 IGLV2-5 POM121L1P IGLJ3 CHCHD10 LOC388882 MMP11 DDT RSPH14
esv3575443	Chr.22:23348201 - 24670505 on Build GRCh38	Gain	ADORA2A LRRC75B GUSBP11 GSTT2B CES5AP1 LOC101929374 LOC107985559 LOC100652871 C22orf15 GGT5 ADORA2A-AS1 ZDHHC8P1 DERL3 DRICH1 POM121L10P UPB1 MIF-AS1 GSTT2 CABIN1 LOC107985555 VPREB3 MIF IGLL1 PCAT14 SPECC1L-ADORA2A ZNF70 SMARCB1 SLC2A11 RGL4 BCRP3 GSTTP1 DDTL GUCD1 GGT1 SUSD2 SNRPD3 SPECC1L CHCHD10 LOC388882 POM121L9P MMP11 DDT

More Information

Additional Information:

For this assay, SNP(s) [rs79277445] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, 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