PCF11
Chr 11PCF11 cleavage and polyadenylation factor subunit
PCF11 encodes a component of the pre-mRNA cleavage complex II that promotes transcription termination by RNA polymerase II. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is extremely intolerant to loss-of-function variants, indicating that even small changes can have significant clinical consequences.
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
208 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 157 | 6 | 0 | 164 |
Likely Benign | 0 | 3 | 0 | 2 | 5 |
Benign | 0 | 2 | 0 | 2 | 4 |
| Total | 1 | 162 | 21 | 4 | 188 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PCF11 · 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