Hs01600831_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33866292 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	1466	NP_065104.1
	XM_011521818.2	7	1649	XP_011520120.1
	XM_011521819.2	6	1692	XP_011520121.1
	XM_011521820.1	6	1167	XP_011520122.1
	AF283508.1	6	1462	AAF91470.1
	AK025888.1	1	429
	BC010488.1	6	1460	AAH10488.1
	BC063533.1	6	1450	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	RYR3 CHRM5 AVEN PGBD4 EMC7
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	RYR3 GREM1 LOC105370757 CHRM5 AVEN TMCO5B SCG5 FMN1 LOC101928134 ARHGAP11A LOC101928042 MIR1233-1 SLC12A6 GOLGA8B GOLGA8A MIR1233-2 NOP10 NUTM1 EMC4 PGBD4 LPCAT4 EMC7 KATNBL1 LOC100131315
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	CHRNA7 RYR3 GREM1 LOC100996255 CHRM5 AVEN LOC100653133 LOC101928042 GOLGA8O NOP10 NUTM1 GOLGA8N EMC4 PGBD4 EMC7 KATNBL1 LOC105370757 TMCO5B SCG5 WHAMMP1 FMN1 LOC101928134 ARHGAP11A MIR1233-1 ULK4P1 SLC12A6 GOLGA8B GOLGA8K GOLGA8A MIR1233-2 LOC101060588 LPCAT4 LOC100131315 LOC105370940
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	RYR3 AQR CHRM5 AVEN MIR1233-1 SLC12A6 GOLGA8B GOLGA8A MIR1233-2 NOP10 ZNF770 NUTM1 EMC4 PGBD4 LPCAT4 EMC7 KATNBL1 GJD2 LOC101928174 ACTC1
nsv568921	Chr.15:33754434 - 33955421 on Build GRCh38	Gain	RYR3 AVEN
nsv456789	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	RYR3 CHRM5 AVEN PGBD4 EMC7
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	RYR3 CHRM5 AVEN
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	RYR3 GREM1 CHRM5 AVEN LOC101928042 NOP10 NUTM1 GOLGA8N EMC4 PGBD4 EMC7 KATNBL1 LOC105370757 TMCO5B SCG5 FMN1 LOC101928134 ARHGAP11A MIR1233-1 SLC12A6 GOLGA8B GOLGA8A MIR1233-2 LPCAT4 LOC100131315

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

apoptotic process
negative regulation of apoptotic process

Function(s)

protein binding