Hs05367514_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:34000762 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	EMC7 AVEN RYR3 CHRM5 PGBD4
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	TMCO5B FMN1 EMC7 MIR1233-1 EMC4 MIR1233-2 LOC100131315 SCG5 CHRM5 GOLGA8A LOC101928042 ARHGAP11A NUTM1 GOLGA8B LOC101928134 LPCAT4 AVEN NOP10 SLC12A6 RYR3 KATNBL1 LOC105370757 PGBD4 GREM1
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	TMCO5B GOLGA8K EMC7 MIR1233-1 MIR1233-2 LOC101060588 LOC100131315 SCG5 CHRM5 GOLGA8A LOC101928042 WHAMMP1 NUTM1 GOLGA8B LOC101928134 LOC100653133 KATNBL1 PGBD4 ULK4P1 FMN1 EMC4 GOLGA8N ARHGAP11A LPCAT4 LOC100996255 GOLGA8O CHRNA7 LOC105370940 AVEN NOP10 SLC12A6 RYR3 LOC105370757 GREM1
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	AQR ZNF770 EMC7 MIR1233-1 EMC4 MIR1233-2 CHRM5 ACTC1 GJD2 GOLGA8A LOC101928174 NUTM1 GOLGA8B LPCAT4 AVEN NOP10 SLC12A6 RYR3 KATNBL1 PGBD4
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	AVEN RYR3 CHRM5
nsv568920	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	EMC7 AVEN RYR3 CHRM5 PGBD4
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	TMCO5B EMC7 MIR1233-1 MIR1233-2 LOC100131315 SCG5 CHRM5 GOLGA8A LOC101928042 NUTM1 GOLGA8B LOC101928134 KATNBL1 PGBD4 FMN1 EMC4 GOLGA8N ARHGAP11A LPCAT4 AVEN NOP10 SLC12A6 RYR3 LOC105370757 GREM1

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