Hs01063436_cn

• Gene Symbol: PAPPA
• Assay Reference Genome Location: Chr.9:116154001 on build GRCh38
• Cytoband: 9q33.1

Target Gene Details

• Entrez Gene ID: 5069
• Gene Name: pappalysin 1
• Gene Aliases: ASBABP2, DIPLA1, IGFBP-4ase, PAPA, PAPP-A, PAPPA1
• Location: Chr.9:116153752-116402321 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAPPA	NM_002581.4	1	210	NP_002572.2
	XM_017014784.1	1	250	XP_016870273.1
	BY795841.2	1	230

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv825063	Chr.9:116150580 - 116157180 on Build GRCh38	Gain	PAPPA

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

proteolysis
female pregnancy
cellular protein metabolic process

Function(s)

metalloendopeptidase activity
metallopeptidase activity
zinc ion binding