NPM3

Chr 10

nucleophosmin/nucleoplasmin 3

Also known as: PORMIN

The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq, Oct 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
0.97
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.069
Z-score 1.64
OE 0.38 (0.170.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.35Z-score
OE missense 1.09 (0.941.28)
117 obs / 106.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.38 (0.170.97)
00.351.4
Missense OE?1.09 (0.941.28)
00.61.4
Synonymous OE?1.16
01.21.6
LoF obs/exp: 3 / 8.0Missense obs/exp: 117 / 106.9Syn Z: -0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NPM3 · 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 →