C10ORF90
Chr 10chromosome 10 open reading frame 90
Also known as: FATS, bA422P15.2
The protein functions as a tumor suppressor that maintains the G2/M cell cycle checkpoint after DNA damage by activating p53 through ubiquitin ligase activity and preventing MDM2 binding. Mutations cause autosomal recessive primary microcephaly with seizures and developmental delay, typically presenting in infancy. This gene is extremely intolerant to loss-of-function variants, indicating it is under strong evolutionary constraint.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C10ORF90 · 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