Hs02969247_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33860605 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 Intron 103 - Exon 104

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

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