Hs00660622_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:34003129 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 Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AVEN	NM_020371.2	2	404	NP_065104.1
	XM_011521818.2	3	587	XP_011520120.1
	XM_011521819.2	2	630	XP_011520121.1
	XM_011521820.1	2	105	XP_011520122.1
	AF283508.1	2	400	AAF91470.1
	BC010488.1	2	398	AAH10488.1
	BC063533.1	2	388	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	PGBD4 CHRM5 EMC7 AVEN RYR3
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	GREM1 FMN1 SLC12A6 NOP10 NUTM1 TMCO5B GOLGA8A LOC101928134 EMC4 ARHGAP11A LOC101928042 LOC105370757 EMC7 AVEN RYR3 LPCAT4 PGBD4 CHRM5 LOC100131315 KATNBL1 MIR1233-2 GOLGA8B SCG5 MIR1233-1
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	GREM1 SLC12A6 NOP10 TMCO5B GOLGA8A LOC101928134 EMC4 WHAMMP1 LOC101928042 LOC105370757 EMC7 AVEN LOC100996255 LPCAT4 PGBD4 ULK4P1 MIR1233-2 LOC100653133 GOLGA8B MIR1233-1 FMN1 LOC105370940 NUTM1 ARHGAP11A GOLGA8N RYR3 LOC101060588 CHRM5 GOLGA8K LOC100131315 KATNBL1 GOLGA8O CHRNA7 SCG5
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	ACTC1 AQR SLC12A6 NOP10 NUTM1 GOLGA8A EMC4 EMC7 AVEN RYR3 GJD2 LPCAT4 PGBD4 CHRM5 LOC101928174 ZNF770 KATNBL1 MIR1233-2 GOLGA8B MIR1233-1
nsv456789	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	PGBD4 CHRM5 EMC7 AVEN RYR3
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	CHRM5 AVEN RYR3
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	GREM1 SLC12A6 NOP10 TMCO5B GOLGA8A LOC101928134 EMC4 LOC101928042 LOC105370757 EMC7 AVEN LPCAT4 PGBD4 MIR1233-2 GOLGA8B MIR1233-1 FMN1 NUTM1 ARHGAP11A GOLGA8N RYR3 CHRM5 LOC100131315 KATNBL1 SCG5

More Information

• Set Membership: Intragenic, Exonic, 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