L1TD1

Chr 1

LINE1 type transposase domain containing 1

Also known as: ECAT11

NCBI Gene: 54596ENSG00000240563UniProt: Q5T7N2

Predicted to enable single-stranded RNA binding activity. Predicted to be involved in retrotransposition. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.33
LOEUF
DN
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?
1.33LOEUF
pLI 0.000
Z-score 0.68
OE 0.80 (0.50–1.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.89Z-score
OE missense 1.13 (1.04–1.22)
448 obs / 398.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.80 (0.50–1.33)
0≤0.351.4
Missense OE?1.13 (1.04–1.22)
0≤0.61.4
Synonymous OE?1.33
0≤1.21.6
LoF obs/exp: 11 / 13.7Missense obs/exp: 448 / 398.2Syn Z: -3.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

L1TD1 · 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