OGFOD1

Chr 16

2-oxoglutarate and iron dependent oxygenase domain containing 1

Also known as: TPA1

NCBI Gene: 55239ENSG00000087263UniProt: Q8N543

Enables peptidyl-proline 3-dioxygenase activity. Involved in several processes, including peptidyl-proline hydroxylation; regulation of translational termination; and stress granule assembly. Located in cytoplasmic stress granule; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.25
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.47
OE 0.91 (0.67–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.61Z-score
OE missense 0.90 (0.81–1.00)
258 obs / 287.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.67–1.25)
0≤0.351.4
Missense OE?0.90 (0.81–1.00)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 27 / 29.8Missense obs/exp: 258 / 287.2Syn Z: 0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OGFOD1 · 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.

Search ClinicalTrials.gov →

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