CXXC1
Chr 18CXXC finger protein 1
Also known as: 2410002I16Rik, 5830420C16Rik, CFP1, CGBP, HsT2645, PCCX1, PHF18, SPP1
This protein functions as a transcriptional activator that binds specifically to unmethylated CpG DNA motifs and is a component of the SETD1 complex that regulates gene expression during development. Mutations cause neurodevelopmental disorders with intellectual disability, and the gene follows autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant developmental effects.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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
CXXC1 · 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
External Resources
Links to major genomics databases and tools