Hs05332517_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33975339 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	PGBD4 RYR3 AVEN EMC7 CHRM5
dgv447e214	Chr.15:33925039 - 33987978 on Build GRCh38	Gain	AVEN CHRM5
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	PGBD4 LOC101928134 RYR3 GREM1 SLC12A6 TMCO5B ARHGAP11A KATNBL1 GOLGA8B CHRM5 GOLGA8A LOC100131315 FMN1 EMC4 LOC101928042 SCG5 LOC105370757 AVEN LPCAT4 MIR1233-1 EMC7 MIR1233-2 NUTM1 NOP10
nsv568923	Chr.15:33971817 - 33989532 on Build GRCh38	Loss	AVEN CHRM5
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	PGBD4 LOC101928134 LOC100996255 KATNBL1 LOC101060588 LOC100131315 FMN1 EMC4 CHRNA7 SCG5 LOC100653133 GOLGA8N LPCAT4 EMC7 NUTM1 RYR3 GREM1 SLC12A6 GOLGA8O GOLGA8K ULK4P1 TMCO5B ARHGAP11A GOLGA8B CHRM5 GOLGA8A WHAMMP1 LOC101928042 LOC105370757 AVEN MIR1233-1 MIR1233-2 NOP10 LOC105370940
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	PGBD4 ZNF770 GJD2 RYR3 SLC12A6 AQR KATNBL1 GOLGA8B CHRM5 GOLGA8A EMC4 ACTC1 LOC101928174 AVEN LPCAT4 MIR1233-1 EMC7 MIR1233-2 NUTM1 NOP10
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	RYR3 AVEN CHRM5
nsv568920	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	PGBD4 RYR3 AVEN EMC7 CHRM5
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	PGBD4 LOC101928134 KATNBL1 LOC100131315 FMN1 EMC4 SCG5 GOLGA8N LPCAT4 EMC7 NUTM1 RYR3 GREM1 SLC12A6 TMCO5B ARHGAP11A GOLGA8B CHRM5 GOLGA8A LOC101928042 LOC105370757 AVEN MIR1233-1 MIR1233-2 NOP10

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