TTF1
Chr 9transcription termination factor 1
Also known as: TTF-1, TTF-I
The protein is a multifunctional nucleolar transcription termination factor that terminates ribosomal gene transcription by binding to Sal box terminator elements and regulates RNA polymerase I transcription on chromatin. The gene has extremely low loss-of-function intolerance (pLI ~0) and normal LOEUF score (0.94), indicating mutations are likely tolerated without causing disease. No specific disease associations are established for this gene based on the provided information.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
206 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 | 0 | 0 | 34 | 0 | 34 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 2 | 125 | 10 | 0 | 137 |
Likely Benign | 0 | 17 | 0 | 2 | 19 |
Benign | 0 | 3 | 0 | 2 | 5 |
Conflicting | — | 1 | |||
| Total | 2 | 145 | 45 | 4 | 197 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TTF1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools