Hs01445095_cn

• Gene Symbol: VPS16
• Assay Reference Genome Location: Chr.20:2862893 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 64601
• Gene Name: VPS16, CORVET/HOPS core subunit
• Gene Aliases: hVPS16
• Location: Chr.20:2840697-2866732 on Build GRCh38
• Assay Gene Location: Overlaps Exon 13 - Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VPS16	NM_022575.3			NP_072097.2
	NM_080413.2			NP_536338.1
	AF308801.1			AAG34678.1
	AK055787.1			BAB71013.1
	AL834401.1			CAD39063.1
	BC012422.1			AAH12422.1
	BC073959.1			AAH73959.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3645020	Chr.20:2816405 - 2926274 on Build GRCh38	Gain	TMEM239 PCED1A PTPRA VPS16
nsv1057464	Chr.20:2650623 - 2989686 on Build GRCh38	Gain	SNORD57 VPS16 SNORD110 SNORD56 MIR1292 SNORD86 IDH3B CPXM1 TMEM239 EBF4 PCED1A PTPRA SNORA51 C20orf141 NOP56
nsv522009	Chr.20:2745032 - 3030542 on Build GRCh38	Gain	CPXM1 TMEM239 EBF4 PCED1A PTPRA VPS16 C20orf141
nsv833895	Chr.20:2730164 - 2882236 on Build GRCh38	Loss	CPXM1 TMEM239 EBF4 PCED1A PTPRA VPS16 C20orf141
esv2762056	Chr.20:2740745 - 2944353 on Build GRCh38	Gain	CPXM1 TMEM239 EBF4 PCED1A PTPRA VPS16 C20orf141

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
endosome to lysosome transport
regulation of vacuole fusion, non-autophagic
regulation of SNARE complex assembly
autophagosome maturation

Function(s)

actin binding
protein binding
actin filament binding