DDX43

Chr 6

DEAD-box helicase 43

Also known as: CT13, HAGE

The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.59
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

Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.000
Z-score 3.59
OE 0.38 (0.250.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.27Z-score
OE missense 0.81 (0.740.90)
303 obs / 371.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.250.59)
00.351.4
Missense OE?0.81 (0.740.90)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 15 / 39.3Missense obs/exp: 303 / 371.9Syn Z: -0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DDX43 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →