BUD13
Chr 11ARBUD13 spliceosome associated protein
Also known as: ACHPS, Cwc26, fSAP71
Primary Disease Associations & Inheritance
Achalasia-progeroid syndromeMIM #621123
AR
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.000
Z-score 2.49
OE 0.49 (0.33–0.77)
Typical tolerance to LoF variation
Missense Constraint?
-0.21Z-score
OE missense 1.03 (0.95–1.12)
371 obs / 359.8 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.49 (0.33–0.77)
0≤0.351.4
Missense OE?1.03 (0.95–1.12)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 14 / 28.3Missense obs/exp: 371 / 359.8Syn Z: -0.22
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
BUD13 · 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