TRIP13

Chr 5AR

thyroid hormone receptor interactor 13

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

NCBI Gene: 9319 ENSG00000071539 UniProt: Q15645 OMIM: 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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

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.

📋

ClinVar Variants

9 unique Pathogenic / Likely Pathogenic· 83 VUS of 241 total submissions

Explore recent and relevant literature in Research Assistant →

📖

GeneReview available — TRIP13

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

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 OE?0.08 (0.03–0.25)

0≤0.351.4

Missense OE?0.58 (0.51–0.67)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 2 / 25.2Missense obs/exp: 141 / 242.5Syn Z: -0.91

ClinVar Variant Classifications

241 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6

Likely Pathogenic3

VUS83

Likely Benign78

Benign58

Conflicting2

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	3	3	0	0	6
Likely Pathogenic	3	0	0	0	3
VUS	1	72	5	5	83
Likely Benign	0	3	34	41	78
Benign	0	1	53	4	58
Conflicting	—				2
Total	7	79	92	50	230

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

137 pathogenic / likely-pathogenic (of 167) ClinVar copy-number / structural variants overlap TRIP13 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →