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

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