ELF1
Chr 13E74 like ETS transcription factor 1
Also known as: EFTUD1, RIA1
ELF1 encodes a transcription factor that regulates gene expression in lymphoid cells and activates specific promoters including LYN and BLK. Mutations cause autosomal dominant immunodeficiency with developmental delay and hypotonia, affecting both immune function and neurological development. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.58).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
148 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 | 46 | 0 | 46 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 80 | 7 | 0 | 87 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 0 | 0 | 2 | 2 |
| Total | 0 | 81 | 53 | 2 | 136 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ELF1 · 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