RNF139

Chr 8

ring finger protein 139

OMIMResearchGenerating clinical summary…
LOEUF 0.441 OMIM phenotype
Clinical SummaryRNF139
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.54) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.538
Z-score 3.59
OE 0.21 (0.110.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.84Z-score
OE missense 0.73 (0.660.81)
261 obs / 359.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.21 (0.110.44)
00.351.4
Missense OE?0.73 (0.660.81)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 5 / 24.0Missense obs/exp: 261 / 359.2Syn Z: -0.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RNF139 · 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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