UFC1
Chr 1ARubiquitin-fold modifier conjugating enzyme 1
Also known as: HSPC155, NEDSG
Primary Disease Associations & Inheritance
Neurodevelopmental disorder with spasticity and poor growthMIM #618076
AR
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.91LOEUF
pLI 0.004
Z-score 1.82
OE 0.46 (0.25–0.91)
Typical tolerance to LoF variation
Missense Constraint?
0.23Z-score
OE missense 0.93 (0.79–1.11)
89 obs / 95.4 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.46 (0.25–0.91)
0≤0.351.4
Missense OE?0.93 (0.79–1.11)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 6 / 13.1Missense obs/exp: 89 / 95.4Syn Z: 0.27
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UFC1 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools