Hs00528535_cn

• Gene Symbol: PIGA
• Assay Reference Genome Location: Chr.X:15321749 on build GRCh38
• Cytoband: Xp22.2

Target Gene Details

• Entrez Gene ID: 5277
• Gene Name: phosphatidylinositol glycan anchor biosynthesis class A
• Gene Aliases: GPI3, MCAHS2, PIG-A, PNH1
• Location: Chr.X:15319451-15335554 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIGA	NM_002641.3			NP_002632.1
	NM_020473.3			NP_065206.3
	NR_033835.1
	NR_033836.1
	XM_011545539.2			XP_011543841.1
	XM_017029581.1			XP_016885070.1
	AK098047.1
	AK303538.1
	AK304144.1
	AK315063.1
	BC038236.1			AAH38236.1
	CX870731.1
	D11466.1			BAA02019.1
	S61523.1			AAD13929.1
	S74936.1			AAD14160.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522729	Chr.X:15283411 - 15334052 on Build GRCh38	Gain	ASB11 PIGA
nsv517938	Chr.X:15296656 - 15331048 on Build GRCh38	Gain	ASB11 PIGA
nsv528343	Chr.X:15271931 - 15385229 on Build GRCh38	Gain	FIGF PIR ASB11 PIR-FIGF PIGA

More Information

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

Gene Ontology Categories:

Process(es)

GPI anchor biosynthetic process
positive regulation of metabolic process
preassembly of GPI anchor in ER membrane

Function(s)

protein binding
UDP-glycosyltransferase activity
phosphatidylinositol N-acetylglucosaminyltransferase activity