YPEL3 encodes a protein that binds metal ions and is involved in regulating cellular senescence and proliferation/apoptosis in myeloid precursor cells. Mutations in YPEL3 have not been definitively associated with human disease. The gene shows tolerance to loss-of-function variation (pLI 0.04, LOEUF 1.15).

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.15
Clinical SummaryYPEL3
Population Constraint (gnomAD)
Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.15LOEUF
pLI 0.042
Z-score 1.32
OE 0.45 (0.201.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.54Z-score
OE missense 0.57 (0.460.71)
59 obs / 103.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.45 (0.201.15)
00.351.4
Missense OE0.57 (0.460.71)
00.61.4
Synonymous OE0.98
01.21.6
LoF obs/exp: 3 / 6.7Missense obs/exp: 59 / 103.0Syn Z: 0.12
DN
0.6453th %ile
GOF
0.5954th %ile
LOF
0.3939th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

YPEL3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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