TRIM46

Chr 1

tripartite motif containing 46

Also known as: GENEY, TRIFIC

This gene encodes a protein of the tripartite motif (TRIM) family. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. TRIM46 is reported to be involved in the proliferation of multiple types of cancer cells including lung and breast cancer. It has also been shown to control neuronal polarity and axon specification by forming uniform microtubule bundles in the axon. [provided by RefSeq, May 2022]

OMIMResearchGenerating clinical summary…
LOEUF 0.23
Clinical SummaryTRIM46
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
81 VUS of 98 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint?
0.23LOEUF
pLI 0.999
Z-score 4.93
OE 0.09 (0.040.23)
Highly constrained

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

Missense Constraint?
3.25Z-score
OE missense 0.59 (0.540.65)
296 obs / 500.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.09 (0.040.23)
00.351.4
Missense OE?0.59 (0.540.65)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 3 / 34.0Missense obs/exp: 296 / 500.4Syn Z: 1.21

ClinVar Variant Classifications

98 submitted variants in ClinVar

Classification Summary

VUS81
Likely Benign5
Benign1
81
VUS
5
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
81
0
0
81
Likely Benign
0
5
0
0
5
Benign
0
0
0
1
1
Total0860187

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

View in ClinVar →

14 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap TRIM46 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

TRIM46 · 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 →