Hs02426894_cn

• Gene Symbol: PLTP
• Assay Reference Genome Location: Chr.20:45905031 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 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLTP	NM_001242920.1	7	805	NP_001229849.1
	NM_001242921.1	7	717	NP_001229850.1
	NM_006227.3	9	1090	NP_006218.1
	NM_182676.2	8	934	NP_872617.1
	AB076694.1	9	874	BAB79630.1
	AF052157.1	6	592
	AK092397.1	9	831
	AK092523.1	8	722
	AK097009.1	8	1388
	AK222690.1	9	878	BAD96410.1
	AK289371.1	8	722
	AK293150.1	7	633
	AK299181.1	7	597
	BC005045.1	8	715	AAH05045.1
	BC019847.1	9	872	AAH19847.1
	BC019898.1	9	865	AAH19898.1
	L26232.1	9	880	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 MMP9 NCOA5 SLC12A5 NEURL2 ZNF335 CTSA PCIF1 SPATA25 PLTP
nsv517296	Chr.20:45854586 - 45965936 on Build GRCh38	Loss	LOC107985388 ACOT8 ZSWIM1 ZSWIM3 NEURL2 ZNF335 CTSA PCIF1 SPATA25 PLTP
nsv586134	Chr.20:45899835 - 45905120 on Build GRCh38	Gain	PLTP
nsv833990	Chr.20:45771510 - 45946844 on Build GRCh38	Loss	LOC107985388 ZSWIM1 TNNC2 DNTTIP1 ZSWIM3 PCIF1 SNX21 PLTP WFDC3 ACOT8 NEURL2 CTSA UBE2C SPATA25

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