PHF11
Chr 13PHD finger protein 11
Also known as: APY, BCAP, IGEL, IGER, IGHER, NY-REN-34, NYREN34
This gene encodes a protein containing a PHD-type zinc finger that acts as a positive regulator of Th1-type cytokine gene expression. The gene has been identified as a candidate gene for asthma in some studies. PHF11 shows low constraint against loss-of-function variants (LOEUF 1.278), suggesting tolerance to such mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
130 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 | 59 | 0 | 59 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 41 | 8 | 0 | 49 |
Likely Benign | 1 | 2 | 1 | 1 | 5 |
Benign | 0 | 0 | 2 | 1 | 3 |
| Total | 1 | 43 | 72 | 2 | 118 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PHF11 · 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