Hs05158156_cn

• Gene Symbol: LIPA
• Assay Reference Genome Location: Chr.10:89220112 on build GRCh38
• Cytoband: 10q23.31

Target Gene Details

• Entrez Gene ID: 3988
• Gene Name: lipase A, lysosomal acid type
• Gene Aliases: CESD, LAL
• Location: Chr.10:89213569-89252039 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LIPA	NM_000235.3			NP_000226.2
	NM_001127605.2			NP_001121077.1
	NM_001288979.1			NP_001275908.1
	AK091558.1
	AK096406.1
	AK125193.1			BAC86078.1
	AK130882.1
	AK222760.1			BAD96480.1
	AK290241.1
	AK293491.1
	AK297079.1
	AK314665.1
	BC012287.1			AAH12287.1
	M74775.1			AAA59519.1
	U08464.1			AAB60328.1
	X76488.1			CAA54026.1
	Z31690.1			CAA83495.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1038123	Chr.10:89194660 - 89232372 on Build GRCh38	Loss	CH25H LIPA
esv2759775	Chr.10:89075307 - 89257729 on Build GRCh38	Loss	CH25H LIPA

More Information

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

Panther Classification:

Molecular Function -

hydrolase, lipase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

cell morphogenesis
cytokine production
fatty acid metabolic process
inflammatory response
cell proliferation
lipid catabolic process
sterol metabolic process
lung development
tissue remodeling
homeostasis of number of cells within a tissue

Function(s)

sterol esterase activity
lipase activity