Hs03011932_cn

• Gene Symbol: PLTP
• Assay Reference Genome Location: Chr.20:45909974 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 Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLTP	NM_001242920.1			NP_001229849.1
	NM_001242921.1	2	221	NP_001229850.1
	NM_006227.3	4	594	NP_006218.1
	NM_182676.2	4	594	NP_872617.1
	AB076694.1	4	378	BAB79630.1
	AF052157.1	1	96
	AK092397.1	4	335
	AK092523.1	4	382
	AK097009.1	3	892
	AK222690.1	4	382	BAD96410.1
	AK289371.1	4	382
	AK293150.1	2	137
	AK299181.1
	BC005045.1	4	375	AAH05045.1
	BC019847.1	4	376	AAH19847.1
	BC019898.1	4	369	AAH19898.1
	L26232.1	4	384	AAA36443.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv3393	Chr.20:45903113 - 45913226 on Build GRCh38	Deletion	PLTP
nsv833991	Chr.20:45885631 - 46068708 on Build GRCh38	Loss	LOC107985388 SPATA25 MMP9 NEURL2 NCOA5 CTSA PLTP ZNF335 PCIF1 SLC12A5
nsv517296	Chr.20:45854586 - 45965936 on Build GRCh38	Loss	LOC107985388 SPATA25 ACOT8 NEURL2 ZSWIM1 CTSA PLTP ZNF335 ZSWIM3 PCIF1
nsv833990	Chr.20:45771510 - 45946844 on Build GRCh38	Loss	LOC107985388 SPATA25 ZSWIM1 DNTTIP1 CTSA WFDC3 ZSWIM3 ACOT8 NEURL2 UBE2C TNNC2 PLTP SNX21 PCIF1

More Information

• Set Membership: Intragenic, 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