LCE1A

Chr 1

late cornified envelope 1A

Also known as: LEP1

NCBI Gene: 353131ENSG00000186844UniProt: Q5T7P2

LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.91
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.004
Z-score -0.36
OE 1.25 (0.51–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.52Z-score
OE missense 1.19 (0.98–1.44)
75 obs / 63.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.25 (0.51–1.91)
0≤0.351.4
Missense OE?1.19 (0.98–1.44)
0≤0.61.4
Synonymous OE?1.40
0≤1.21.6
LoF obs/exp: 3 / 2.4Missense obs/exp: 75 / 63.3Syn Z: -1.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE1A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients