Hs05326171_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:34000280 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 EMC7 PGBD4 AVEN CHRM5
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	MIR1233-1 SCG5 NUTM1 GOLGA8A GOLGA8B GREM1 PGBD4 AVEN KATNBL1 LOC105370757 SLC12A6 LOC101928134 LPCAT4 FMN1 RYR3 LOC100131315 TMCO5B LOC101928042 EMC7 EMC4 CHRM5 MIR1233-2 ARHGAP11A NOP10
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	MIR1233-1 NUTM1 GOLGA8K GREM1 CHRNA7 ULK4P1 LOC101060588 LOC101928134 LPCAT4 FMN1 RYR3 TMCO5B EMC7 EMC4 ARHGAP11A NOP10 WHAMMP1 SCG5 GOLGA8A GOLGA8B PGBD4 AVEN LOC100996255 KATNBL1 LOC105370757 SLC12A6 LOC100131315 LOC101928042 LOC105370940 GOLGA8N GOLGA8O LOC100653133 CHRM5 MIR1233-2
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	MIR1233-1 ZNF770 ACTC1 NUTM1 GOLGA8A LOC101928174 GOLGA8B AQR PGBD4 AVEN KATNBL1 SLC12A6 LPCAT4 RYR3 EMC7 EMC4 CHRM5 MIR1233-2 NOP10 GJD2
nsv456789	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	RYR3 EMC7 PGBD4 AVEN CHRM5
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	RYR3 AVEN CHRM5
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	MIR1233-1 NUTM1 GREM1 LOC101928134 LPCAT4 FMN1 RYR3 TMCO5B EMC7 EMC4 ARHGAP11A NOP10 SCG5 GOLGA8A GOLGA8B PGBD4 AVEN KATNBL1 LOC105370757 SLC12A6 LOC100131315 LOC101928042 GOLGA8N CHRM5 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