OGFOD3
Chr 172-oxoglutarate and iron dependent oxygenase domain containing 3
Also known as: C17orf101
Predicted to enable several functions, including L-ascorbic acid binding activity; dioxygenase activity; and iron ion binding activity. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— OGFOD3
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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?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.
1.31LOEUF
pLI 0.000
Z-score 0.58
OE 0.85 (0.57–1.31)
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.
0.56Z-score
OE missense 0.89 (0.80–1.01)
196 obs / 219.2 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.0.85 (0.57–1.31)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.89 (0.80–1.01)
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.0.94
0≤1.21.6
LoF obs/exp: 15 / 17.6Missense obs/exp: 196 / 219.2Syn Z: 0.44
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
OGFOD3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
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
Key Publications
Landmark & review papers · by relevance
Genomic determinants of long-term cardiometabolic complications in childhood acute lymphoblastic leukemia survivors.
England J et al.·BMC Cancer
2017
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Genetic influence of the brain on epigenetic age acceleration: evidence of a large-scale genetic correlation study.
Li C et al.·Biogerontology
2025
AI-driven discovery of minimal sepsis biomarkers for disease detection and progression: precision medicine across diverse populations
Su Q et al.·Front Med (Lausanne)
2025
Systems Biology of Mesial Temporal Lobe Epilepsy and Role of Iron-Related Gene Expression in Its Pathophysiology.
Mundackal Sivaraman D et al.·OMICS
2026
A novel 16-gene alternative mRNA splicing signature predicts tumor relapse and indicates immune activity in stage I-III hepatocellular carcinoma
Chen XX et al.·Front Pharmacol
2022
Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome
Liu Y et al.·Mol Psychiatry
2025Cohort
Platelet Activating Factor Receptor Exaggerates Microglia-Mediated Microenvironment by IL10-STAT3 Signaling: A Novel Potential Biomarker and Target for Diagnosis and Treatment of Alzheimer's Disease
Liu J et al.·Front Aging Neurosci
2022
17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation
Sahajpal NS et al.·Mol Cytogenet
2023
The landscape of cryptic antisense transcription in human cancers reveals an oncogenic noncoding RNA in lung cancer
Zhao Z et al.·Sci Adv
2023
Comparative membrane proteomics reveals diverse cell regulators concentrated at the nuclear envelope
Cheng LC et al.·Life Sci Alliance
2023
Identification of a Prognostic Colorectal Cancer Model Including LncRNA FOXP4-AS1 and LncRNA BBOX1-AS1 Based on Bioinformatics Analysis
Shi ZL et al.·Cancer Biother Radiopharm
2022Functional
Top 10 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools