FUBP3
Chr 9far upstream element binding protein 3
Also known as: FBP3
FUBP3 encodes a transcriptional activator that binds single-stranded DNA and regulates gene expression through RNA polymerase II-mediated transcription. Mutations cause autosomal recessive intellectual disability with childhood onset, often accompanied by seizures and developmental delays. The gene shows high constraint against loss-of-function variants (LOEUF 0.364), indicating that complete loss of function is poorly tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% 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
FUBP3 · 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