TRIM40

Chr 6

tripartite motif containing 40

Also known as: RNF35

NCBI Gene: 135644ENSG00000204614UniProt: Q6P9F5

This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.83
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.83LOEUF
pLI 0.000
Z-score -0.80
OE 1.26 (0.82–1.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.15Z-score
OE missense 0.96 (0.83–1.12)
117 obs / 121.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.26 (0.82–1.83)
0≤0.351.4
Missense OE?0.96 (0.83–1.12)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 14 / 11.1Missense obs/exp: 117 / 121.5Syn Z: 0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRIM40 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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