C8ORF74
Chr 8chromosome 8 open reading frame 74
Clinical Summary— C8ORF74
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
120 Pathogenic / Likely Pathogenic· 17 VUS of 138 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint
1.94LOEUF
pLI 0.000
Z-score -1.65
OE 1.60 (1.02–1.94)
Highly tolerant — LoF variants common in population
Missense Constraint
-1.79Z-score
OE missense 1.39 (1.25–1.55)
234 obs / 168.6 exp
Tolerant to missense variation
Observed / Expected Ratios
LoF OE1.60 (1.02–1.94)
0≤0.351.4
Missense OE1.39 (1.25–1.55)
0≤0.61.4
Synonymous OE1.36
0≤1.21.6
LoF obs/exp: 14 / 8.7Missense obs/exp: 234 / 168.6Syn Z: -2.55
ClinVar Variant Classifications
138 submitted variants in ClinVar
Classification Summary
Pathogenic115
Likely Pathogenic5
VUS17
Likely Benign1
115
Pathogenic
5
Likely Pathogenic
17
VUS
1
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 115 |
Likely Pathogenic | — | — | — | — | 5 |
VUS | — | — | — | — | 17 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 138 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →C8ORF74 · 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
UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes
Rodriguez-Fontenla C et al.·Transl Psychiatry
2021
eQTL colocalization analysis highlights novel susceptibility genes in Autism Spectrum Disorders (ASD)
Dominguez-Alonso S et al.·Transl Psychiatry
2023
The Thioesterase ACOT1 as a Regulator of Lipid Metabolism in Type 2 Diabetes Detected in a Multi-Omics Study of Human Liver
Cavalli M et al.·OMICS
2021
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders
Secolin R et al.·Front Genet
2021
Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus
Vazzana KM et al.·Genes Immun
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Novel Gene-Based Analysis of ASD GWAS: Insight Into the Biological Role of Associated Genes.
Alonso-Gonzalez A et al.·Front Genet
2019
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