HSF1
Chr 8heat shock transcription factor 1
Also known as: HSTF1
This transcription factor regulates the heat shock response by binding to heat shock elements and activating expression of molecular chaperones and heat shock proteins that protect cells from stress damage. Mutations cause autosomal dominant neurodevelopmental disorder with seizures, hypotonia, and developmental delay, with onset typically in infancy or early childhood. HSF1 is highly constrained against loss-of-function variants, suggesting an essential role in human development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
168 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 | 52 | 0 | 52 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 67 | 12 | 0 | 79 |
Likely Benign | 0 | 3 | 1 | 3 | 7 |
Benign | 0 | 0 | 1 | 2 | 3 |
| Total | 0 | 70 | 71 | 5 | 146 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HSF1 · 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
External Resources
Links to major genomics databases and tools