C12ORF60

Chr 12

chromosome 12 open reading frame 60

NCBI Gene: 144608ENSG00000182993UniProt: Q5U649
0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
1.69
LOEUF
—
Mechanism
Clinical Summary— C12ORF60
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.05) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.69LOEUF
pLI 0.048
Z-score 0.63
OE 0.62 (0.25–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.01Z-score
OE missense 1.00 (0.87–1.16)
125 obs / 124.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.62 (0.25–1.69)
0≤0.351.4
Missense OE1.00 (0.87–1.16)
0≤0.61.4
Synonymous OE1.14
0≤1.21.6
LoF obs/exp: 2 / 3.2Missense obs/exp: 125 / 124.7Syn Z: -0.70

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C12ORF60 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients