LDAH

lipid droplet associated hydrolase

Basic information

Region (hg38): 2:20684014-20823130

Previous symbols: [ "C2orf43" ]

Links

ENSG00000118961 ∙ NCBI:60526 ∙ OMIM:613570 ∙ HGNC:26145 ∙ Uniprot:Q9H6V9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LDAH gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			15	2	1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	1

Variants in LDAH

This is a list of pathogenic ClinVar variants found in the LDAH region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-20686970-G-T		not specified	Uncertain significance (Jan 23, 2024)
2-20687045-T-C		not specified	Uncertain significance (Dec 21, 2023)
2-20701588-T-C		not specified	Uncertain significance (Jan 11, 2023)
2-20739990-T-C		not specified	Uncertain significance (Dec 28, 2023)
2-20739994-T-C		not specified	Uncertain significance (Jun 09, 2022)
2-20740016-C-T		not specified	Uncertain significance (Mar 20, 2024)
2-20740127-A-C		not specified	Uncertain significance (Mar 31, 2023)
2-20740150-T-C		not specified	Uncertain significance (Dec 02, 2022)
2-20740168-C-T		not specified	Uncertain significance (May 27, 2022)
2-20740199-G-C		not specified	Uncertain significance (Jan 23, 2024)
2-20774811-G-A		not specified	Likely benign (Jan 23, 2024)
2-20774826-C-T			Benign (Nov 09, 2017)
2-20774860-T-C		not specified	Likely benign (Mar 18, 2024)
2-20774871-A-T		not specified	Uncertain significance (Feb 06, 2024)
2-20774887-T-C		not specified	Uncertain significance (Jun 05, 2024)
2-20774929-C-T			Likely benign (Aug 01, 2023)
2-20790297-C-T		not specified	Uncertain significance (Sep 21, 2023)
2-20790333-G-A		not specified	Uncertain significance (Dec 11, 2023)
2-20790336-T-C		not specified	Uncertain significance (Mar 25, 2024)
2-20790339-T-C		not specified	Uncertain significance (Mar 20, 2023)
2-20790375-A-G		not specified	Uncertain significance (May 06, 2024)
2-20801370-T-C		not specified	Uncertain significance (Jul 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LDAH	protein_coding	protein_coding	ENST00000237822	6	139095

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000355	0.956	125666	1	79	125746	0.000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.602	151	173	0.871	0.00000829	2136
Missense in Polyphen		49	50.022	0.97956		638
Synonymous	0.807	54	62.1	0.870	0.00000315	604
Loss of Function	1.80	8	15.7	0.509	9.09e-7	186

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000912	0.000912
Ashkenazi Jewish	0.00	0.00
East Asian	0.00147	0.00147
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000107	0.0000967
Middle Eastern	0.00147	0.00147
South Asian	0.000425	0.000392
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine lipid hydrolase associated with lipid droplets. Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages. {ECO:0000250|UniProtKB:Q8BVA5}.

Intolerance Scores

• rvis_EVS: 0.86
• rvis_percentile_EVS: 88.69

Haploinsufficiency Scores

• pHI: 0.144
• hipred: N
• hipred_score: 0.187
• ghis: 0.473

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ldah
• Phenotype: endocrine/exocrine gland phenotype; growth/size/body region phenotype; vision/eye phenotype; hearing/vestibular/ear phenotype; neoplasm; reproductive system phenotype

Gene ontology

• Biological process: lipid catabolic process
• Cellular component: endoplasmic reticulum;lipid droplet
• Molecular function: lipase activity