Hs01495432_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33866555 on build GRCh38
• Cytoband: 15q14

Target Gene Details

• Entrez Gene ID: 57099
• Gene Name: apoptosis and caspase activation inhibitor
• Gene Aliases: PDCD12
• Location: Chr.15:33858602-34074877 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AVEN	NM_020371.2	6	1203	NP_065104.1
	XM_011521818.2	7	1386	XP_011520120.1
	XM_011521819.2	6	1429	XP_011520121.1
	XM_011521820.1	6	904	XP_011520122.1
	AF283508.1	6	1199	AAF91470.1
	AK025888.1	1	166
	BC010488.1	6	1197	AAH10488.1
	BC063533.1	6	1187	AAH63533.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv471235	Chr.15:33743328 - 34129750 on Build GRCh38	Gain	EMC7 PGBD4 RYR3 AVEN CHRM5
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	LOC100131315 EMC7 LOC101928134 PGBD4 RYR3 GOLGA8A AVEN NOP10 GREM1 LOC105370757 EMC4 CHRM5 MIR1233-1 LOC101928042 NUTM1 MIR1233-2 LPCAT4 GOLGA8B KATNBL1 SCG5 FMN1 SLC12A6 ARHGAP11A TMCO5B
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	LOC100131315 ULK4P1 LOC101928134 GOLGA8K NOP10 GREM1 CHRM5 GOLGA8N LPCAT4 GOLGA8B CHRNA7 LOC105370940 SCG5 FMN1 SLC12A6 LOC101060588 EMC7 PGBD4 RYR3 GOLGA8A AVEN LOC105370757 EMC4 MIR1233-1 LOC101928042 NUTM1 LOC100653133 MIR1233-2 KATNBL1 LOC100996255 WHAMMP1 GOLGA8O ARHGAP11A TMCO5B
nsv568921	Chr.15:33754434 - 33955421 on Build GRCh38	Gain	RYR3 AVEN
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	ACTC1 AQR EMC7 PGBD4 RYR3 LOC101928174 GOLGA8A AVEN NOP10 EMC4 CHRM5 MIR1233-1 NUTM1 MIR1233-2 LPCAT4 ZNF770 GOLGA8B KATNBL1 GJD2 SLC12A6
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	RYR3 AVEN CHRM5
nsv568920	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	EMC7 PGBD4 RYR3 AVEN CHRM5
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	LOC100131315 LOC101928134 NOP10 GREM1 CHRM5 GOLGA8N LPCAT4 GOLGA8B SCG5 FMN1 SLC12A6 EMC7 PGBD4 RYR3 GOLGA8A AVEN LOC105370757 EMC4 MIR1233-1 LOC101928042 NUTM1 MIR1233-2 KATNBL1 ARHGAP11A TMCO5B

More Information

Additional Information:

For this assay, SNP(s) [rs74008366] 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, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

apoptotic process
negative regulation of apoptotic process

Function(s)

protein binding