C16ORF78
Chr 16chromosome 16 open reading frame 78
Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— C16ORF78
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
16 Pathogenic / Likely Pathogenic· 8 VUS of 24 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.18LOEUF
pLI 0.000
Z-score 1.08
OE 0.69 (0.43–1.18)
Highly tolerant — LoF variants common in population
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.01Z-score
OE missense 1.00 (0.88–1.14)
155 obs / 155.2 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.69 (0.43–1.18)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.00 (0.88–1.14)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.95
0≤1.21.6
LoF obs/exp: 10 / 14.4Missense obs/exp: 155 / 155.2Syn Z: 0.27
ClinVar Variant Classifications
24 submitted variants in ClinVar
Classification Summary
Pathogenic15
Likely Pathogenic1
VUS8
15
Pathogenic
1
Likely Pathogenic
8
VUS
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 4 | 4 | 0 | 8 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 4 | 20 | 0 | 24 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C16ORF78 · 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 →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Cancer-Testis Gene Biomarkers Discovered in Colon Cancer Patients
Almutairi MH et al.·Genes (Basel)
2022Cohort
Genome-Wide Association Study on the Hematological Phenotypic Characteristics of the Han Population from Northwest China
Yang W et al.·Pharmgenomics Pers Med
2022
Identification of Clinical Drivers of Left Atrial Enlargement through Genomics of Left Atrial Size
Agrawal V et al.·Circ Heart Fail
2024
An Activated Dendritic-Cell-Related Gene Signature Indicative of Disease Prognosis and Chemotherapy and Immunotherapy Response in Colon Cancer Patients
Ouyang Y et al.·Int J Mol Sci
2023Cohort
Uncharacterized Proteins CxORFx: Subinteractome Analysis and Prognostic Significance in Cancers
Ershov P et al.·Int J Mol Sci
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools