DDX59

Chr 1AR

DEAD-box helicase 59

Also known as: OFD5, ZNHIT5

NCBI Gene: 83479ENSG00000118197UniProt: Q5T1V6OMIM: 615464

Predicted to enable RNA helicase activity and mRNA binding activity. Located in nucleoplasm. Implicated in orofaciodigital syndrome V. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Orofaciodigital syndrome VMIM #174300
AR

Clinical highlights

Gene-disease validity (ClinGen)
ciliopathy · ARLimitednot for standalone diagnostic reporting
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 2.04
OE 0.56 (0.37–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.78Z-score
OE missense 0.88 (0.80–0.97)
282 obs / 321.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.37–0.88)
0≤0.351.4
Missense OE?0.88 (0.80–0.97)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 14 / 25.0Missense obs/exp: 282 / 321.3Syn Z: 0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DDX59 · 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