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	CHRM5 RYR3 EMC7 AVEN PGBD4
nsv1052620	Chr.15:32612402 - 34538731 on Build GRCh38	Gain	GREM1 GOLGA8B GOLGA8A LPCAT4 AVEN KATNBL1 SLC12A6 CHRM5 NOP10 RYR3 SCG5 EMC4 NUTM1 EMC7 MIR1233-2 LOC101928134 LOC105370757 LOC100131315 ARHGAP11A PGBD4 MIR1233-1 FMN1 LOC101928042 TMCO5B
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	GOLGA8O GREM1 GOLGA8A ULK4P1 LPCAT4 LOC100996255 WHAMMP1 CHRM5 LOC105370940 LOC100653133 RYR3 EMC4 NUTM1 MIR1233-2 CHRNA7 PGBD4 MIR1233-1 FMN1 LOC101060588 GOLGA8N TMCO5B GOLGA8B AVEN GOLGA8K KATNBL1 SLC12A6 NOP10 SCG5 EMC7 LOC101928134 LOC105370757 LOC100131315 ARHGAP11A LOC101928042
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	GOLGA8B GOLGA8A LPCAT4 GJD2 AVEN KATNBL1 ZNF770 SLC12A6 LOC101928174 CHRM5 NOP10 RYR3 EMC4 NUTM1 EMC7 MIR1233-2 AQR PGBD4 MIR1233-1 ACTC1
nsv568921	Chr.15:33754434 - 33955421 on Build GRCh38	Gain	RYR3 AVEN
nsv456789	Chr.15:33742220 - 34134417 on Build GRCh38	Gain	CHRM5 RYR3 EMC7 AVEN PGBD4
nsv1044844	Chr.15:33773323 - 34004628 on Build GRCh38	Loss	CHRM5 RYR3 AVEN
dgv4456n54	Chr.15:32604149 - 34557061 on Build GRCh38	Gain	GREM1 GOLGA8A LPCAT4 CHRM5 RYR3 EMC4 NUTM1 MIR1233-2 PGBD4 MIR1233-1 FMN1 GOLGA8N TMCO5B GOLGA8B AVEN KATNBL1 SLC12A6 NOP10 SCG5 EMC7 LOC101928134 LOC105370757 LOC100131315 ARHGAP11A LOC101928042

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