Hs05857598_cn

• Gene Symbol: VPS54
• Assay Reference Genome Location: Chr.2:63894935 on build GRCh38
• Cytoband: 2p15

Target Gene Details

• Entrez Gene ID: 51542
• Gene Name: VPS54, GARP complex subunit
• Gene Aliases: HCC8, PPP1R164, SLP-8p, VPS54L, WR, hVps54L
• Location: Chr.2:63892149-64019421 on Build GRCh38
• Assay Gene Location: Within Intron 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
VPS54	NM_001005739.1			NP_001005739.1
	NM_016516.2			NP_057600.2
	XM_006712029.3			XP_006712092.1
	XM_017004316.1			XP_016859805.1
	AF102177.1			AAF37319.1
	AK002205.1			BAA92134.1
	AK025545.1
	AK094019.1
	AK124436.1
	AK292669.1
	AK292889.1
	AL137604.1			CAB70837.1
	AL359939.1			CAB95772.1
	AY444798.1			AAS20945.1
	BC030275.1			AAH30275.1
	BC041868.1			AAH41868.1
	CR749701.1			CAH18479.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521717	Chr.2:63876998 - 63959448 on Build GRCh38	Gain	VPS54 UGP2
nsv582127	Chr.2:63618350 - 64923736 on Build GRCh38	Gain	VPS54 LOC400958 LOC339807 UGP2 LOC101927438 LOC100507006 LINC00309 LOC101927402 PELI1 MIR4433B LGALSL MIR4433A AFTPH WDPCP MIR4434 LOC105374768 LOC647115 SERTAD2
nsv582126	Chr.2:63346276 - 64470570 on Build GRCh38	Gain	LINC00309 VPS54 PELI1 MDH1 MIR4433B LGALSL MIR4433A UGP2 WDPCP LOC100507006 LOC105374768 LOC647115

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

Golgi to vacuole transport
lysosomal transport
protein transport
growth
retrograde transport, endosome to Golgi
homeostasis of number of cells within a tissue
musculoskeletal movement
neurofilament cytoskeleton organization

Function(s)

protein binding
syntaxin binding