Hs01378809_cn

• Gene Symbol: VPS39
• Assay Reference Genome Location: Chr.15:42163764 on build GRCh38
• Cytoband: 15q15.1

Target Gene Details

• Entrez Gene ID: 23339
• Gene Name: VPS39, HOPS complex subunit
• Gene Aliases: TLP, VAM6, hVam6p
• Location: Chr.15:42158701-42208331 on Build GRCh38
• Assay Gene Location: Overlaps Intron 20 - Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VPS39	NM_001301138.1			NP_001288067.1
	NM_015289.3			NP_056104.2
	XM_011521403.2			XP_011519705.1
	XM_011521404.2			XP_011519706.1
	XM_017022036.1			XP_016877525.1
	XM_017022037.1			XP_016877526.1
	XM_017022038.1			XP_016877527.1
	XM_017022039.1			XP_016877528.1
	AB018313.2
	AF280814.1			AAK72222.1
	AF281052.1			AAQ05978.1
	AK025334.1
	AK128403.1
	BC015817.2			AAH15817.2
	BC068559.1			AAH68559.1
	BX537404.1			CAD97646.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv952614	Chr.15:42139503 - 42164202 on Build GRCh38	Deletion	VPS39 PLA2G4F
nsv471683	Chr.15:42042177 - 42210784 on Build GRCh38	Gain+Loss	MIR627 PLA2G4E VPS39 PLA2G4D PLA2G4F TMEM87A
nsv832985	Chr.15:42079284 - 42272768 on Build GRCh38	Loss	MIR627 VPS39 PLA2G4D PLA2G4F TMEM87A

More Information

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

Gene Ontology Categories:

Process(es)

intracellular protein transport
autophagy
endosome to lysosome transport
endosomal vesicle fusion
vacuole fusion
late endosome to lysosome transport
retrograde transport, endosome to plasma membrane