Hs05365823_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:34039679 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 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AVEN	XM_011521818.2			XP_011520120.1
	XM_011521819.2			XP_011520121.1

Target Gene Details

• Entrez Gene ID: 1133
• Gene Name: cholinergic receptor muscarinic 5
• Gene Aliases: HM5
• Location: Chr.15:33968314-34065094 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHRM5	NM_001320917.1			NP_001307846.1
	NM_012125.3			NP_036257.1
	AB084282.1			BAB91222.1
	AK095198.1
	BC041805.1			AAH41805.1

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

More Information

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

Panther Classification:

Molecular Function -

G-protein coupled receptor

Gene Ontology Categories:

Process(es)

apoptotic process
negative regulation of apoptotic process
gastric acid secretion
adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway
phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway
G-protein coupled acetylcholine receptor signaling pathway
synaptic transmission, cholinergic
cell proliferation
dopamine transport
transmission of nerve impulse
regulation of phosphatidylinositol dephosphorylation

Function(s)

protein binding
phosphatidylinositol phospholipase C activity
G-protein coupled acetylcholine receptor activity