PUSL1
Chr 1pseudouridine synthase like 1
Predicted to enable pseudouridine synthase activity. Predicted to be involved in tRNA pseudouridine synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.98LOEUF
pLI 0.000
Z-score -3.21
OE 2.03 (1.33–1.98)
Highly tolerant — LoF variants common in population
Missense Constraint?
-1.44Z-score
OE missense 1.32 (1.18–1.47)
217 obs / 164.8 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?2.03 (1.33–1.98)
0≤0.351.4
Missense OE?1.32 (1.18–1.47)
0≤0.61.4
Synonymous OE?1.54
0≤1.21.6
LoF obs/exp: 23 / 11.3Missense obs/exp: 217 / 164.8Syn Z: -3.61
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PUSL1 · 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