OFCC1

Chr 6

orofacial cleft 1 candidate 1 (pseudogene)

Also known as: MRDS1, Opo

NCBI Gene: 266553ENSG00000181355UniProt: Q8IZS5

Predicted to be located in several cellular components, including endoplasmic reticulum; microtubule cytoskeleton; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.15
LOEUF
Multiple*
Mechanism· predicted
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?
1.15LOEUF
pLI 0.000
Z-score 1.12
OE 0.70 (0.44–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.27Z-score
OE missense 0.94 (0.82–1.08)
144 obs / 153.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.70 (0.44–1.15)
0≤0.351.4
Missense OE?0.94 (0.82–1.08)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 11 / 15.8Missense obs/exp: 144 / 153.3Syn Z: 0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OFCC1 · 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