ANKRD39

Chr 2

ankyrin repeat domain 39

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.21
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.21LOEUF
pLI 0.001
Z-score 1.13
OE 0.61 (0.331.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.18Z-score
OE missense 0.95 (0.821.11)
112 obs / 117.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.331.21)
00.351.4
Missense OE?0.95 (0.821.11)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 6 / 9.8Missense obs/exp: 112 / 117.5Syn Z: 0.81

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ANKRD39 · 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.

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