TRIM71
Chr 3ADtripartite motif containing 71
Also known as: HYC4, HYDCC1, LIN-41, LIN41
This E3 ubiquitin-protein ligase cooperates with the microRNA machinery to maintain embryonic stem cell proliferation and promotes the G1-S cell cycle transition by repressing CDKN1A expression. Mutations cause autosomal dominant congenital hydrocephalus. The gene is highly constrained against loss-of-function variants, indicating that functional copies are essential for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
193 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 2 | 16 | 0 | 20 |
Likely Pathogenic | 1 | 2 | 0 | 0 | 3 |
VUS | 3 | 131 | 4 | 0 | 138 |
Likely Benign | 0 | 5 | 0 | 19 | 24 |
Benign | 0 | 0 | 1 | 1 | 2 |
Conflicting | — | 4 | |||
| Total | 6 | 140 | 21 | 20 | 191 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TRIM71 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools