Hs02819080_cn

• Gene Symbol: AVEN
• Assay Reference Genome Location: Chr.15:33865878 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: Within Exon 107

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RYR3	NM_001036.4	104	15349	NP_001027.3
	NM_001243996.2	103	15334	NP_001230925.1
	XM_011521880.2	102	15504	XP_011520182.1
	XM_017022468.1	103	15525	XP_016877957.1
	XM_017022469.1	103	15522	XP_016877958.1
	XM_017022470.1	103	17859	XP_016877959.1
	XM_017022471.1	103	15522	XP_016877960.1
	XM_017022472.1	103	15519	XP_016877961.1
	XM_017022473.1	102	15507	XP_016877962.1
	XM_017022474.1	103	15489	XP_016877963.1
	XM_017022475.1	102	15438	XP_016877964.1
	XM_017022476.1	102	15417	XP_016877965.1
	AB001025.1	103	15339	BAA23795.1
	AJ001515.1	104	15335	CAA04798.1
	BQ003017.1	1	242

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	LOC101928042 KATNBL1 FMN1 GOLGA8A AVEN CHRM5 LPCAT4 SCG5 LOC101928134 PGBD4 MIR1233-1 RYR3 SLC12A6 LOC105370757 LOC100131315 ARHGAP11A EMC7 GOLGA8B GREM1 NUTM1 MIR1233-2 NOP10 TMCO5B EMC4
esv33337	Chr.15:31689863 - 34575097 on Build GRCh38	Gain+Loss	WHAMMP1 FMN1 AVEN LOC100653133 SCG5 GOLGA8N LOC101060588 SLC12A6 LOC105370940 CHRNA7 EMC7 GOLGA8B GREM1 NUTM1 TMCO5B LOC100996255 LOC101928042 KATNBL1 GOLGA8A CHRM5 LPCAT4 LOC101928134 PGBD4 MIR1233-1 RYR3 GOLGA8O LOC105370757 GOLGA8K LOC100131315 ARHGAP11A ULK4P1 MIR1233-2 NOP10 EMC4
esv3569431	Chr.15:33564570 - 35080307 on Build GRCh38	Gain	KATNBL1 GOLGA8A AVEN CHRM5 LPCAT4 GJD2 PGBD4 MIR1233-1 ACTC1 RYR3 SLC12A6 EMC7 GOLGA8B LOC101928174 NUTM1 MIR1233-2 NOP10 AQR EMC4 ZNF770
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	FMN1 AVEN SCG5 GOLGA8N SLC12A6 EMC7 GOLGA8B GREM1 NUTM1 TMCO5B LOC101928042 KATNBL1 GOLGA8A CHRM5 LPCAT4 LOC101928134 PGBD4 MIR1233-1 RYR3 LOC105370757 LOC100131315 ARHGAP11A MIR1233-2 NOP10 EMC4

More Information

• Set Membership: Intragenic, Exonic, 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