C3ORF38
Chr 3chromosome 3 open reading frame 38
Involved in positive regulation of apoptotic process. Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
LOEUF 1.02
Clinical Summary— C3ORF38
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.001
Z-score 1.52
OE 0.54 (0.31–1.02)
Highly tolerant — LoF variants common in population
Missense Constraint?
0.26Z-score
OE missense 0.95 (0.83–1.07)
170 obs / 179.6 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.54 (0.31–1.02)
0≤0.351.4
Missense OE?0.95 (0.83–1.07)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 7 / 12.9Missense obs/exp: 170 / 179.6Syn Z: -0.47
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C3ORF38 · 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