TRIP13

Chr 5AR

thyroid hormone receptor interactor 13

Also known as: 16E1BP, MVA3, OOMD9, OZEMA9

NCBI Gene: 9319ENSG00000071539UniProt: Q15645OMIM: 604507

TRIP13 encodes a protein essential for chromosome recombination, synaptonemal complex formation during meiosis, and mitotic spindle assembly checkpoint activation. Mutations cause mosaic variegated aneuploidy syndrome and oocyte/zygote/embryo maturation arrest with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.25), reflecting its critical role in chromosome stability and reproductive function.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.252 OMIM phenotypes
Clinical Summary— TRIP13
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.25LOEUF
pLI 0.996
Z-score 4.28
OE 0.08 (0.03–0.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.32Z-score
OE missense 0.58 (0.51–0.67)
141 obs / 242.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.08 (0.03–0.25)
0≤0.351.4
Missense OE0.58 (0.51–0.67)
0≤0.61.4
Synonymous OE1.11
0≤1.21.6
LoF obs/exp: 2 / 25.2Missense obs/exp: 141 / 242.5Syn Z: -0.91

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRIP13 · 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

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients