BCLAF3
Chr XBCLAF1 and THRAP3 family member 3
Also known as: CXorf23, TOBF1
BCLAF3 encodes a component of the spliceosome complex that is important for maintaining embryonic stem cell fate and may regulate Wnt-driven epithelial renewal in gastric mucosa. The gene is highly constrained against loss-of-function variants (LOEUF 0.421), suggesting mutations would likely cause severe developmental phenotypes. No specific disease associations have been established for this gene based on the provided information.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% 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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BCLAF3 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools