LCE1D

Chr 1

late cornified envelope 1D

Also known as: LEP4

NCBI Gene: 353134ENSG00000172155UniProt: Q5T752OMIM: 612606

Enables identical protein binding activity. Involved in cognition. Acts upstream of or within cellular response to calcium ion. Located in cornified envelope and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.91
LOEUF
Multiple*
Mechanism· predicted

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 -0.44
OE 1.31 (0.52–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.04Z-score
OE missense 1.01 (0.83–1.24)
66 obs / 65.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.31 (0.52–1.91)
0≤0.351.4
Missense OE?1.01 (0.83–1.24)
0≤0.61.4
Synonymous OE?1.29
0≤1.21.6
LoF obs/exp: 3 / 2.3Missense obs/exp: 66 / 65.1Syn Z: -1.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LCE1D · 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