UFM1
Chr 13ARubiquitin fold modifier 1
Also known as: BM-002, C13orf20, HLD14
UFM1 encodes a ubiquitin-like protein that is covalently attached to target proteins through a process called ufmylation, which is involved in ribosome recycling, DNA damage response, and endoplasmic reticulum stress response. Mutations cause autosomal recessive leukodystrophy, hypomyelinating, 14, a white matter disorder affecting myelination in the central nervous system. The gene shows moderate tolerance to loss-of-function variants (LOEUF 1.035), suggesting some functional redundancy in the ufmylation pathway.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
115 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 | 50 | 0 | 50 |
Likely Pathogenic | 1 | 2 | 1 | 0 | 4 |
VUS | 2 | 18 | 3 | 0 | 23 |
Likely Benign | 0 | 2 | 9 | 9 | 20 |
Benign | 0 | 0 | 3 | 1 | 4 |
| Total | 3 | 22 | 66 | 10 | 101 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UFM1 · 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