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

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