TDRD5

Chr 1

tudor domain containing 5

Also known as: TUDOR3

NCBI Gene: 163589ENSG00000162782UniProt: Q8NAT2OMIM: 617748

Predicted to be involved in P granule organization; spermatid development; and transposable element silencing by piRNA-mediated DNA methylation. Predicted to be located in chromatoid body and pi-body. Predicted to be active in synapse. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.31
LOEUF· LoF intol.
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.31LOEUF
pLI 0.972
Z-score 5.64
OE 0.18 (0.11–0.31)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.90Z-score
OE missense 0.77 (0.71–0.83)
416 obs / 540.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.11–0.31)
0≤0.351.4
Missense OE?0.77 (0.71–0.83)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 10 / 55.2Missense obs/exp: 416 / 540.0Syn Z: -0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TDRD5 · 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