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 CHRM5 EMC7 RYR3 PGBD4
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	LOC100131315 AVEN CHRM5 FMN1 EMC7 LOC101928134 NUTM1 TMCO5B SLC12A6 GOLGA8A GREM1 GOLGA8B LOC105370757 SCG5 ARHGAP11A KATNBL1 NOP10 RYR3 LPCAT4 MIR1233-2 EMC4 PGBD4 LOC101928042 MIR1233-1
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	GOLGA8O LOC100131315 AVEN EMC7 LOC101928134 NUTM1 WHAMMP1 TMCO5B LOC105370940 SLC12A6 LOC105370757 ARHGAP11A RYR3 LPCAT4 PGBD4 LOC101928042 LOC100996255 CHRM5 FMN1 GOLGA8N GOLGA8K GOLGA8A GREM1 GOLGA8B SCG5 LOC101060588 CHRNA7 KATNBL1 NOP10 MIR1233-2 EMC4 LOC100653133 ULK4P1 MIR1233-1
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	LOC101928174 AVEN CHRM5 EMC7 NUTM1 SLC12A6 ACTC1 GOLGA8A GOLGA8B ZNF770 GJD2 KATNBL1 NOP10 RYR3 LPCAT4 MIR1233-2 AQR EMC4 PGBD4 MIR1233-1
nsv456789	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	AVEN CHRM5 EMC7 RYR3 PGBD4
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	LOC100131315 AVEN EMC7 LOC101928134 NUTM1 TMCO5B SLC12A6 LOC105370757 ARHGAP11A RYR3 LPCAT4 PGBD4 LOC101928042 CHRM5 FMN1 GOLGA8N GOLGA8A GREM1 GOLGA8B SCG5 KATNBL1 NOP10 MIR1233-2 EMC4 MIR1233-1

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