ETS1
Chr 11ETS proto-oncogene 1, transcription factor
Also known as: ETS-1, EWSR2, c-ets-1, p54
This transcription factor directly controls expression of cytokine and chemokine genes and regulates lymphoid cell differentiation, survival and proliferation. Mutations cause autosomal dominant thrombocytopenia with elevated serum ETS1, characterized by bleeding tendency and immune dysregulation. The gene is highly constrained against loss-of-function variants (LOEUF 0.389), indicating that haploinsufficiency is likely not tolerated.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
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
123 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 | 1 | 0 | 71 | 0 | 72 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 28 | 1 | 0 | 29 |
Likely Benign | 0 | 1 | 0 | 1 | 2 |
Benign | 0 | 0 | 1 | 4 | 5 |
| Total | 1 | 29 | 78 | 5 | 113 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ETS1 · 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