Hs01728514_cn

• Gene Symbol: GPIHBP1
• Assay Reference Genome Location: Chr.8:143216890 on build GRCh38
• Cytoband: 8q24.3

Target Gene Details

• Entrez Gene ID: 338328
• Gene Name: glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
• Gene Aliases: GPI-HBP1, HYPL1D
• Location: Chr.8:143213193-143217170 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GPIHBP1	NM_001301772.1			NP_001288701.1
	NM_178172.5	4	2002	NP_835466.2
	AF088057.1	1	247
	AY245915.1	4	2002	AAO86519.1
	BC035810.1	4	2002	AAH35810.2
	BC063857.1	4	1930	AAH63857.1
	HY047963.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv6438	Chr.8:143194984 - 143230416 on Build GRCh38	Insertion	GPIHBP1
nsv612764	Chr.8:143211426 - 143227887 on Build GRCh38	Loss	GPIHBP1
nsv612726	Chr.8:143147686 - 143256883 on Build GRCh38	Loss	ZFP41 LY6H GPIHBP1
nsv612728	Chr.8:143184697 - 143253125 on Build GRCh38	Loss	ZFP41 GPIHBP1
nsv41	Chr.8:143202119 - 143230416 on Build GRCh38	Insertion	GPIHBP1
nsv950009	Chr.8:143207697 - 143235630 on Build GRCh38	Deletion	GPIHBP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

lipid transport
intracellular protein transport
protein import
protein localization to cell surface
cholesterol homeostasis
transcytosis
protein stabilization
positive regulation of lipoprotein lipase activity
triglyceride homeostasis
response to heparin
protein transmembrane transport
positive regulation of chylomicron remnant clearance

Function(s)

high-density lipoprotein particle binding
lipid binding
protein transmembrane transporter activity
lipase binding
chylomicron binding
lipoprotein particle binding