Hs05331614_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33869033 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 Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AVEN	NM_020371.2			NP_065104.1
	XM_011521818.2			XP_011520120.1
	XM_011521819.2			XP_011520121.1
	XM_011521820.1			XP_011520122.1
	AF283508.1			AAF91470.1
	BC010488.1			AAH10488.1
	BC063533.1			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	CHRM5 EMC7 RYR3 PGBD4 AVEN
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	CHRM5 EMC7 MIR1233-1 PGBD4 LOC100131315 SCG5 KATNBL1 TMCO5B LOC101928042 LOC101928134 ARHGAP11A SLC12A6 GOLGA8A MIR1233-2 GREM1 GOLGA8B RYR3 EMC4 LPCAT4 NOP10 LOC105370757 NUTM1 FMN1 AVEN
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	CHRM5 EMC7 MIR1233-1 GOLGA8N LOC100131315 LOC100653133 SCG5 KATNBL1 LOC101928042 LOC105370940 GOLGA8A GREM1 RYR3 EMC4 FMN1 GOLGA8K WHAMMP1 PGBD4 TMCO5B LOC101928134 ARHGAP11A SLC12A6 LOC101060588 MIR1233-2 LOC100996255 GOLGA8O GOLGA8B ULK4P1 CHRNA7 LPCAT4 NOP10 LOC105370757 NUTM1 AVEN
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	ACTC1 CHRM5 AQR GJD2 EMC7 MIR1233-1 PGBD4 KATNBL1 LOC101928174 SLC12A6 GOLGA8A MIR1233-2 GOLGA8B RYR3 ZNF770 EMC4 LPCAT4 NOP10 NUTM1 AVEN
nsv568921	Chr.15:33754434 - 33955421 on Build GRCh38	Gain	RYR3 AVEN
nsv456789	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	CHRM5 EMC7 RYR3 PGBD4 AVEN
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	CHRM5 RYR3 AVEN
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	CHRM5 EMC7 MIR1233-1 GOLGA8N LOC100131315 SCG5 KATNBL1 LOC101928042 GOLGA8A GREM1 RYR3 EMC4 FMN1 PGBD4 TMCO5B LOC101928134 ARHGAP11A SLC12A6 MIR1233-2 GOLGA8B LPCAT4 NOP10 LOC105370757 NUTM1 AVEN

More Information

Additional Information:

For this assay, SNP(s) [rs118139889] 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

Gene Ontology Categories:

Process(es)

apoptotic process
negative regulation of apoptotic process

Function(s)

protein binding