PHF13
Chr 1PHD finger protein 13
Also known as: PHF5, SPOC1
PHF13 encodes a chromatin-binding protein that regulates chromosome condensation during mitosis and modulates DNA damage response by recruiting corepressors and histone methyltransferases. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.25), but specific disease associations and inheritance patterns have not yet been established in humans. Based on functional studies, mutations would likely affect cell division and chromatin regulation processes.
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
PHF13 · 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