DDIT4L

Chr 4

DNA damage inducible transcript 4 like

ENSG00000145358UniProt: Q96D03OMIM: 607730

Inhibits cell growth by regulating the TOR signaling pathway upstream of the TSC1-TSC2 complex and downstream of AKT1

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.88LOEUF
pLI 0.000
Z-score -0.58
OE 1.25 (0.71–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.09Z-score
OE missense 1.03 (0.88–1.21)
105 obs / 102.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.25 (0.71–1.88)
0≤0.351.4
Missense OE?1.03 (0.88–1.21)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 8 / 6.4Missense obs/exp: 105 / 102.3Syn Z: 0.25

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

DDIT4L · 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