ID1
Chr 20inhibitor of DNA binding 1
Also known as: ID, bHLHb24
This protein functions as a transcriptional regulator that inhibits basic helix-loop-helix transcription factors by forming heterodimers and blocking their DNA binding activity, thereby regulating cellular processes including differentiation, growth, and circadian rhythms. The gene shows very low constraint against loss-of-function variants (pLI near 0, high LOEUF score), suggesting tolerance to such changes. Currently, no established Mendelian diseases have been definitively linked to ID1 mutations in clinical practice.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
72 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 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 35 | 8 | 0 | 43 |
Likely Benign | 0 | 0 | 6 | 1 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 35 | 30 | 1 | 66 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ID1 · 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