TFDP1
Chr 13transcription factor Dp-1
Also known as: DILC, DP1, DRTF1, Dp-1
The protein encoded by this gene heterodimerizes with E2F transcription factors to regulate genes involved in cell cycle progression from G1 to S phase and DNA replication. Mutations cause intellectual disability, microcephaly, and growth retardation with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.32), indicating intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TFDP1 · 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