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

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

apoptotic process
negative regulation of apoptotic process

Function(s)

protein binding