C1ORF174
Chr 1chromosome 1 open reading frame 174
Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— C1ORF174
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
86 unique Pathogenic / Likely Pathogenic· 15 VUS of 110 total submissions
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint
1.41LOEUF
pLI 0.000
Z-score 0.70
OE 0.75 (0.43–1.41)
Highly tolerant — LoF variants common in population
Missense Constraint
0.02Z-score
OE missense 0.99 (0.87–1.14)
144 obs / 144.8 exp
Mild missense constraint
Observed / Expected Ratios
LoF OE0.75 (0.43–1.41)
0≤0.351.4
Missense OE0.99 (0.87–1.14)
0≤0.61.4
Synonymous OE1.02
0≤1.21.6
LoF obs/exp: 7 / 9.3Missense obs/exp: 144 / 144.8Syn Z: -0.15
ClinVar Variant Classifications
110 submitted variants in ClinVar
Classification Summary
Pathogenic84
Likely Pathogenic2
VUS15
Benign1
84
Pathogenic
2
Likely Pathogenic
15
VUS
1
Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 84 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 15 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 1 |
| Total | — | 102 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C1ORF174 · 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
Open Research Assistant →Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Identification of potential autoantigens in anti-CCP-positive and anti-CCP-negative rheumatoid arthritis using citrulline-specific protein arrays
Poulsen TBG et al.·Sci Rep
2021
Characterisation of secretome-based immune responses of human leukocytes infected with various Mycobacterium tuberculosis lineages
Kaewseekhao B et al.·PeerJ
2021
Regulators of proteostasis are translationally repressed in fibroblasts from patients with sporadic and LRRK2-G2019S Parkinson's disease
Flinkman D et al.·NPJ Parkinsons Dis
2023Cohort
Identification of key genes and pathways at the downstream of S100PBP in pancreatic cancer cells by integrated bioinformatical analysis
Lu YJ et al.·Transl Cancer Res
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Functional analysis of candidate genes from genome-wide association studies of hearing.
Ingham NJ et al.·Hear Res
2020Functional
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
The diagnostic and prognostic value of C1orf174 in colorectal cancer.
Nazari E et al.·Bioimpacts
2025Open Access
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools