FOXP4
Chr 6forkhead box P4
Also known as: hFKHLA
This transcription factor regulates tissue- and cell-specific gene expression during development and adulthood. Loss-of-function mutations cause neurodevelopmental disorders with an autosomal dominant inheritance pattern, as evidenced by the gene's extreme intolerance to loss-of-function variants (pLI = 0.98). The high constraint against variation (LOEUF = 0.31) indicates that haploinsufficiency is the likely pathogenic mechanism.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
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
188 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 | 1 | 7 | 0 | 8 |
Likely Pathogenic | 1 | 1 | 0 | 0 | 2 |
VUS | 12 | 107 | 8 | 1 | 128 |
Likely Benign | 0 | 5 | 1 | 6 | 12 |
Benign | 0 | 1 | 0 | 4 | 5 |
| Total | 13 | 115 | 16 | 11 | 155 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FOXP4 · 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