Hs02614054_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33861162 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:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AVEN

Target Gene Details

• Entrez Gene ID: 6263
• Gene Name: ryanodine receptor 3
• Gene Aliases: RYR-3
• Location: Chr.15:33310773-33866103 on Build GRCh38
• Assay Gene Location: Overlaps Exon 105 - Intron 105

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RYR3	NM_001036.4			NP_001027.3
	NM_001243996.2			NP_001230925.1
	XM_011521880.2			XP_011520182.1
	XM_017022468.1			XP_016877957.1
	XM_017022469.1			XP_016877958.1
	XM_017022470.1			XP_016877959.1
	XM_017022471.1			XP_016877960.1
	XM_017022472.1			XP_016877961.1
	XM_017022473.1			XP_016877962.1
	XM_017022474.1			XP_016877963.1
	XM_017022475.1			XP_016877964.1
	XM_017022476.1			XP_016877965.1
	AB001025.1			BAA23795.1
	AJ001515.1			CAA04798.1
	X74269.1			CAA52326.1

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 AVEN CHRM5 EMC7 RYR3
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	LOC105370757 NOP10 SCG5 LOC100131315 MIR1233-2 EMC4 FMN1 TMCO5B LOC101928042 MIR1233-1 LOC101928134 CHRM5 RYR3 NUTM1 PGBD4 ARHGAP11A GOLGA8B GOLGA8A GREM1 AVEN SLC12A6 KATNBL1 EMC7 LPCAT4
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	LOC105370757 SCG5 EMC4 CHRM5 NUTM1 ARHGAP11A LOC100653133 GOLGA8B GOLGA8K AVEN ULK4P1 CHRNA7 GOLGA8O LPCAT4 LOC100996255 NOP10 LOC100131315 MIR1233-2 FMN1 TMCO5B WHAMMP1 LOC101928042 MIR1233-1 LOC101928134 RYR3 LOC101060588 PGBD4 GOLGA8N GOLGA8A GREM1 LOC105370940 SLC12A6 KATNBL1 EMC7
nsv568921	Chr.15:33754434 - 33955421 on Build GRCh38	Gain	AVEN RYR3
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	NOP10 LOC101928174 MIR1233-2 EMC4 ZNF770 MIR1233-1 CHRM5 RYR3 NUTM1 ACTC1 AQR PGBD4 GOLGA8B GOLGA8A AVEN GJD2 SLC12A6 KATNBL1 EMC7 LPCAT4
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	AVEN CHRM5 RYR3
nsv568920	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	PGBD4 AVEN CHRM5 EMC7 RYR3
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	LOC105370757 SCG5 EMC4 CHRM5 NUTM1 ARHGAP11A GOLGA8B AVEN LPCAT4 NOP10 LOC100131315 MIR1233-2 FMN1 TMCO5B LOC101928042 MIR1233-1 LOC101928134 RYR3 PGBD4 GOLGA8N GOLGA8A GREM1 SLC12A6 KATNBL1 EMC7

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

calcium ion transport
ion transmembrane transport
release of sequestered calcium ion into cytosol
protein homotetramerization
calcium ion transmembrane transport
cellular response to calcium ion
cellular response to magnesium ion
cellular response to caffeine
cellular response to ATP
regulation of cardiac conduction

Function(s)

ryanodine-sensitive calcium-release channel activity
calcium ion binding
calmodulin binding
calcium-release channel activity