Hs05335733_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33883290 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
nsv437798	Chr.15:33883135 - 33885515 on Build GRCh38	Loss	AVEN
nsv471235	Chr.15:33743328 - 34129750 on Build GRCh38	Gain	EMC7 RYR3 PGBD4 CHRM5 AVEN
esv3636092	Chr.15:33878005 - 33890938 on Build GRCh38	Gain	AVEN
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	GOLGA8A LOC105370757 MIR1233-2 RYR3 PGBD4 NUTM1 CHRM5 GOLGA8B FMN1 EMC4 LOC101928042 TMCO5B MIR1233-1 LOC101928134 LOC100131315 NOP10 SCG5 ARHGAP11A EMC7 GREM1 KATNBL1 LPCAT4 AVEN SLC12A6
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	GOLGA8A LOC105370757 MIR1233-2 WHAMMP1 RYR3 CHRM5 FMN1 LOC105370940 LOC101928042 GOLGA8K LOC101928134 NOP10 SCG5 LOC101060588 ARHGAP11A EMC7 GOLGA8N GREM1 AVEN SLC12A6 GOLGA8O ULK4P1 LOC100653133 PGBD4 NUTM1 GOLGA8B EMC4 LOC100996255 TMCO5B MIR1233-1 LOC100131315 KATNBL1 LPCAT4 CHRNA7
nsv568921	Chr.15:33754434 - 33955421 on Build GRCh38	Gain	RYR3 AVEN
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	GOLGA8A MIR1233-2 AQR RYR3 PGBD4 GJD2 NUTM1 CHRM5 GOLGA8B EMC4 MIR1233-1 NOP10 LOC101928174 ZNF770 EMC7 KATNBL1 LPCAT4 ACTC1 AVEN SLC12A6
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	RYR3 CHRM5 AVEN
nsv568920	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	EMC7 RYR3 PGBD4 CHRM5 AVEN
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	GOLGA8A LOC105370757 MIR1233-2 RYR3 CHRM5 FMN1 LOC101928042 LOC101928134 NOP10 SCG5 ARHGAP11A EMC7 GOLGA8N GREM1 AVEN SLC12A6 PGBD4 NUTM1 GOLGA8B EMC4 TMCO5B MIR1233-1 LOC100131315 KATNBL1 LPCAT4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

apoptotic process
negative regulation of apoptotic process

Function(s)

protein binding