KNOP1
Chr 16lysine rich nucleolar protein 1
Also known as: 101F10.1, C16orf88, FAM191A, TSG118
KNOP1 encodes a nucleolar protein that interacts with zinc finger 106 protein and may be involved in testis development. Mutations cause autosomal recessive developmental delay with seizures, microcephaly, and brain atrophy, typically presenting in infancy. The gene is highly intolerant to loss-of-function variants, indicating that biallelic mutations are required for disease manifestation.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KNOP1 · 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