Hs05342555_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:34001602 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 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
	AK095198.1

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 AVEN CHRM5 EMC7 PGBD4
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	NUTM1 LPCAT4 AVEN SCG5 FMN1 KATNBL1 SLC12A6 GREM1 LOC101928134 LOC105370757 ARHGAP11A GOLGA8A LOC101928042 RYR3 NOP10 EMC4 TMCO5B CHRM5 EMC7 LOC100131315 PGBD4 MIR1233-1 MIR1233-2 GOLGA8B
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	AVEN SCG5 GOLGA8N FMN1 KATNBL1 LOC105370757 ARHGAP11A GOLGA8A LOC101928042 CHRM5 CHRNA7 EMC7 GOLGA8B LOC100996255 NUTM1 LPCAT4 SLC12A6 GREM1 LOC101060588 LOC101928134 WHAMMP1 LOC100653133 RYR3 NOP10 EMC4 TMCO5B GOLGA8K LOC105370940 ULK4P1 LOC100131315 PGBD4 MIR1233-1 MIR1233-2 GOLGA8O
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	NUTM1 ZNF770 LPCAT4 AVEN AQR GJD2 KATNBL1 SLC12A6 GOLGA8A ACTC1 RYR3 NOP10 EMC4 CHRM5 EMC7 LOC101928174 PGBD4 MIR1233-1 MIR1233-2 GOLGA8B
nsv456789	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	RYR3 AVEN CHRM5 EMC7 PGBD4
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	RYR3 AVEN CHRM5
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	AVEN SCG5 GOLGA8N FMN1 KATNBL1 LOC105370757 ARHGAP11A GOLGA8A LOC101928042 CHRM5 EMC7 GOLGA8B NUTM1 LPCAT4 SLC12A6 GREM1 LOC101928134 RYR3 NOP10 EMC4 TMCO5B LOC100131315 PGBD4 MIR1233-1 MIR1233-2

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