Hs05346271_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33980390 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	AVEN PGBD4 EMC7 RYR3 CHRM5
dgv447e214	Chr.15:33925039 - 33987978 on Build GRCh38	Gain	AVEN CHRM5
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	TMCO5B GREM1 KATNBL1 GOLGA8A EMC4 MIR1233-2 LOC101928042 SLC12A6 PGBD4 EMC7 LPCAT4 SCG5 LOC101928134 MIR1233-1 LOC100131315 AVEN NUTM1 FMN1 LOC105370757 NOP10 GOLGA8B ARHGAP11A RYR3 CHRM5
nsv568923	Chr.15:33971817 - 33989532 on Build GRCh38	Loss	AVEN CHRM5
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	TMCO5B GREM1 GOLGA8A LOC101928042 LPCAT4 ULK4P1 LOC101928134 CHRNA7 LOC101060588 LOC100131315 GOLGA8K FMN1 LOC105370757 GOLGA8B ARHGAP11A CHRM5 KATNBL1 EMC4 MIR1233-2 GOLGA8O SLC12A6 PGBD4 LOC100653133 EMC7 WHAMMP1 SCG5 GOLGA8N LOC100996255 LOC105370940 MIR1233-1 AVEN NUTM1 NOP10 RYR3
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	AQR KATNBL1 GOLGA8A EMC4 MIR1233-2 LOC101928174 GJD2 SLC12A6 PGBD4 EMC7 LPCAT4 MIR1233-1 AVEN ZNF770 NUTM1 NOP10 GOLGA8B RYR3 CHRM5 ACTC1
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	AVEN RYR3 CHRM5
nsv568920	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	AVEN PGBD4 EMC7 RYR3 CHRM5
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	TMCO5B GREM1 GOLGA8A LOC101928042 LPCAT4 LOC101928134 LOC100131315 FMN1 LOC105370757 GOLGA8B ARHGAP11A CHRM5 KATNBL1 EMC4 MIR1233-2 SLC12A6 PGBD4 EMC7 SCG5 GOLGA8N MIR1233-1 AVEN NUTM1 NOP10 RYR3

More Information

Additional Information:

For this assay, SNP(s) [rs79175788] 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