SPICE1
Chr 3spindle and centriole associated protein 1
Also known as: CCDC52, SPICE
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.89LOEUF
pLI 0.000
Z-score 2.15
OE 0.66 (0.49–0.89)
Typical tolerance to LoF variation
Missense Constraint?
0.35Z-score
OE missense 0.95 (0.88–1.03)
439 obs / 460.0 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.66 (0.49–0.89)
0≤0.351.4
Missense OE?0.95 (0.88–1.03)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 30 / 45.7Missense obs/exp: 439 / 460.0Syn Z: 0.60
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPICE1 · 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