LIPI

lipase I, the group of Lipases

Basic information

Region (hg38): 21:14108813-14210955

Links

ENSG00000188992 ∙ NCBI:149998 ∙ OMIM:609252 ∙ HGNC:18821 ∙ Uniprot:Q6XZB0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hypertriglyceridemia (Limited), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hypertriglyceridemia, familial	AD	Cardiovascular	Surveillance and treatment for cholesterol and cardiovascular perturbations may decrease morbidity and mortality	Cardiovascular	12719377

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the LIPI gene.

• not_provided (114 variants)
• not_specified (76 variants)
• LIPI-related_disorder (3 variants)
• Hypertriglyceridemia_1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LIPI gene is commonly pathogenic or not. These statistics are base on transcript: NM_001302998.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3	14	2	19
missense			100	8	4	112
nonsense			1			1
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	106	22	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LIPI	protein_coding	protein_coding	ENST00000344577	10	102033

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125692	0	47	125739	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.365	261	245	1.07	0.0000112	3179
Missense in Polyphen		100	92.14	1.0853		1184
Synonymous	-0.516	93	86.9	1.07	0.00000413	862
Loss of Function	-1.06	26	20.8	1.25	8.66e-7	297

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000548	0.000543
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000381	0.000381
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000160	0.000158
Middle Eastern	0.000381	0.000381
South Asian	0.000197	0.000196
Other	0.000500	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG). {ECO:0000269|PubMed:12963729}.
• Pathway: Metabolism of lipids;Metabolism;Glycerophospholipid biosynthesis;Phospholipid metabolism;Synthesis of PA (Consensus)

Intolerance Scores

• loftool: 0.241
• rvis_EVS: 1.2
• rvis_percentile_EVS: 92.95

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.124

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	High
Cancer	High	High	High

Gene ontology

• Biological process: phosphatidic acid biosynthetic process;lipid catabolic process
• Cellular component: extracellular region;plasma membrane
• Molecular function: phospholipase activity;heparin binding;carboxylic ester hydrolase activity