CENPI
Chr Xcentromere protein I
Also known as: CENP-I, FSHPRH1, LRPR1
CENPI encodes a centromere protein that is essential for kinetochore assembly, chromosome segregation, and mitotic spindle checkpoint signaling. Mutations cause X-linked disorders of gonadal development and gametogenesis. This gene is highly constrained against loss-of-function variants, indicating that heterozygous loss is likely pathogenic.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CENPI · 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 →External Resources
Links to major genomics databases and tools