CPSF1
Chr 8ADcleavage and polyadenylation specific factor 1
Also known as: CPSF160, HSU37012, MYP27, P/cl.18
The CPSF1 protein is the largest subunit of the cleavage and polyadenylation specificity factor complex, which recognizes AAUAAA signals in pre-mRNA and facilitates RNA cleavage and poly(A) tail addition during mRNA processing. Mutations cause autosomal dominant Myopia 27, affecting eye development and retinal ganglion cell projections. The gene is highly constrained against loss-of-function variants (LOEUF 0.54), indicating that such variants are likely pathogenic.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The Badonyi & Marsh model scores dominant-negative highest, but genomic evidence most strongly supports loss-of-function (haploinsufficiency) as the primary mechanism.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CPSF1 · 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