Hs00115081_cn

• Gene Symbol: LIPA
• Assay Reference Genome Location: Chr.10:89213529 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: Overlaps - Exon 10

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
	AK130882.1
	BC012287.1			AAH12287.1
	CA435432.1
	M74775.1			AAA59519.1
	X76488.1			CAA54026.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv517170	Chr.10:89171845 - 89215450 on Build GRCh38	Loss	CH25H LIPA
nsv551858	Chr.10:89180930 - 89215450 on Build GRCh38	Loss	CH25H LIPA
dgv951n100	Chr.10:89202275 - 89219336 on Build GRCh38	Loss	CH25H LIPA
nsv1038123	Chr.10:89194660 - 89232372 on Build GRCh38	Loss	CH25H LIPA
dgv273e212	Chr.10:89213159 - 89217406 on Build GRCh38	Loss	LIPA
esv2759775	Chr.10:89075307 - 89257729 on Build GRCh38	Loss	CH25H LIPA

More Information

• Set Membership: Intragenic, 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