Hs07203816_cn

• Gene Symbol: PLTP
• Assay Reference Genome Location: Chr.20:45906961 on build GRCh38
• Cytoband: 20q13.12

Target Gene Details

• Entrez Gene ID: 5360
• Gene Name: phospholipid transfer protein
• Gene Aliases: BPIFE, HDLCQ9
• Location: Chr.20:45898620-45912364 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLTP	NM_001242920.1			NP_001229849.1
	NM_001242921.1			NP_001229850.1
	NM_006227.3			NP_006218.1
	NM_182676.2			NP_872617.1
	AB076694.1			BAB79630.1
	AF052157.1
	AK092397.1
	AK092523.1
	AK097009.1
	AK222690.1			BAD96410.1
	AK289371.1
	AK293150.1
	AK299181.1
	BC005045.1			AAH05045.1
	BC019847.1			AAH19847.1
	BC019898.1			AAH19898.1
	L26232.1			AAA36443.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3063791	Chr.20:45906867 - 45907303 on Build GRCh38	Deletion	PLTP
nsv3393	Chr.20:45903113 - 45913226 on Build GRCh38	Deletion	PLTP
esv2722456	Chr.20:45906691 - 45907225 on Build GRCh38	Deletion	PLTP
esv2658653	Chr.20:45906708 - 45907144 on Build GRCh38	Deletion	PLTP
nsv833991	Chr.20:45885631 - 46068708 on Build GRCh38	Loss	NCOA5 CTSA LOC107985388 MMP9 PCIF1 ZNF335 SPATA25 NEURL2 PLTP SLC12A5
nsv517296	Chr.20:45854586 - 45965936 on Build GRCh38	Loss	ZSWIM3 ACOT8 CTSA LOC107985388 PCIF1 ZNF335 SPATA25 NEURL2 PLTP ZSWIM1
esv3557124	Chr.20:45906706 - 45907181 on Build GRCh38	Deletion	PLTP
nsv956210	Chr.20:45906716 - 45907116 on Build GRCh38	Deletion	PLTP
nsv833990	Chr.20:45771510 - 45946844 on Build GRCh38	Loss	ACOT8 CTSA LOC107985388 PCIF1 SPATA25 NEURL2 PLTP ZSWIM1 ZSWIM3 WFDC3 DNTTIP1 SNX21 TNNC2 UBE2C

More Information

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

Gene Ontology Categories:

Process(es)

lipid metabolic process
lipid transport
vitamin E biosynthetic process
positive regulation of cholesterol efflux
sperm motility
high-density lipoprotein particle remodeling

Function(s)

lipid binding