HEATR1
Chr 1HEAT repeat containing 1
Also known as: BAP28, UTP10
HEATR1 encodes a ribosome biogenesis factor that is required for processing of pre-18S ribosomal RNA and assembly of the small ribosomal subunit in the nucleolus. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, reflecting its essential role in ribosome biogenesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Mild missense constraint
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
HEATR1 · 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