Hs05387586_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33987407 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
esv3581622	Chr.15:33982985 - 33988305 on Build GRCh38	Loss	AVEN CHRM5
dgv447e214	Chr.15:33925039 - 33987978 on Build GRCh38	Gain	AVEN CHRM5
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	MIR1233-2 TMCO5B SCG5 GOLGA8A GREM1 AVEN GOLGA8B CHRM5 LPCAT4 LOC101928134 EMC4 FMN1 KATNBL1 EMC7 PGBD4 NOP10 RYR3 LOC105370757 MIR1233-1 ARHGAP11A LOC100131315 LOC101928042 SLC12A6 NUTM1
nsv456790	Chr.15:33971817 - 33989532 on Build GRCh38	Loss	AVEN CHRM5
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	MIR1233-2 TMCO5B GREM1 AVEN LOC101928134 EMC4 FMN1 KATNBL1 PGBD4 CHRNA7 LOC100996255 LOC105370757 MIR1233-1 ARHGAP11A GOLGA8K LOC100131315 GOLGA8N LOC101928042 SLC12A6 LOC100653133 SCG5 GOLGA8A GOLGA8B CHRM5 LPCAT4 EMC7 WHAMMP1 NOP10 RYR3 LOC105370940 GOLGA8O ULK4P1 LOC101060588 NUTM1
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	MIR1233-2 LOC101928174 GOLGA8A AVEN GOLGA8B CHRM5 LPCAT4 EMC4 KATNBL1 EMC7 PGBD4 GJD2 NOP10 RYR3 AQR MIR1233-1 ACTC1 ZNF770 SLC12A6 NUTM1
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	MIR1233-2 TMCO5B GREM1 AVEN LOC101928134 EMC4 FMN1 KATNBL1 PGBD4 LOC105370757 MIR1233-1 ARHGAP11A LOC100131315 GOLGA8N LOC101928042 SLC12A6 SCG5 GOLGA8A GOLGA8B CHRM5 LPCAT4 EMC7 NOP10 RYR3 NUTM1

More Information

Additional Information:

For this assay, SNP(s) [rs73385792] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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