Hs05390946_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33878446 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 6

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	PGBD4 CHRM5 EMC7 AVEN RYR3
esv3636092	Chr.15:33878005 - 33890938 on Build GRCh38	Gain	AVEN
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	SLC12A6 MIR1233-2 LOC101928042 GOLGA8A FMN1 GOLGA8B NUTM1 ARHGAP11A CHRM5 EMC7 LPCAT4 MIR1233-1 PGBD4 EMC4 GREM1 SCG5 LOC105370757 TMCO5B LOC100131315 KATNBL1 NOP10 AVEN LOC101928134 RYR3
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	LOC100996255 LOC101060588 NUTM1 EMC7 CHRNA7 GOLGA8N LOC105370940 PGBD4 ULK4P1 EMC4 GREM1 GOLGA8K TMCO5B WHAMMP1 KATNBL1 NOP10 LOC101928134 RYR3 SLC12A6 MIR1233-2 LOC101928042 GOLGA8A FMN1 GOLGA8B GOLGA8O ARHGAP11A CHRM5 LOC100653133 LPCAT4 MIR1233-1 SCG5 LOC105370757 LOC100131315 AVEN
nsv568921	Chr.15:33754434 - 33955421 on Build GRCh38	Gain	AVEN RYR3
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	SLC12A6 MIR1233-2 GOLGA8A GOLGA8B GJD2 NUTM1 CHRM5 ZNF770 EMC7 LPCAT4 MIR1233-1 PGBD4 EMC4 AQR LOC101928174 KATNBL1 NOP10 AVEN RYR3 ACTC1
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	CHRM5 AVEN RYR3
nsv568920	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	PGBD4 CHRM5 EMC7 AVEN RYR3
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	NUTM1 EMC7 GOLGA8N PGBD4 EMC4 GREM1 TMCO5B KATNBL1 NOP10 LOC101928134 RYR3 SLC12A6 MIR1233-2 LOC101928042 GOLGA8A FMN1 GOLGA8B ARHGAP11A CHRM5 LPCAT4 MIR1233-1 SCG5 LOC105370757 LOC100131315 AVEN

More Information

Additional Information:

For this assay, SNP(s) [rs116322214,rs140776501] 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