TRIM49D1

Chr 11

tripartite motif containing 49D1

Also known as: TRIM49D, TRIM49D1P, TRIM49DP

NCBI Gene: 399939ENSG00000223417UniProt: C9J1S8

The TRIM49D1 protein is predicted to function as a ubiquitin protein ligase involved in innate immune response and gene regulation. Pathogenic variants in this gene have not been definitively associated with human disease, and the gene shows relatively low constraint to loss-of-function variation (pLI 0.29, LOEUF 1.89).

ResearchSummary from RefSeq
LOEUF 1.89
Clinical Summary— TRIM49D1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
📋
ClinVar Variants
17 unique Pathogenic / Likely Pathogenic· 25 VUS of 52 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.89LOEUF
pLI 0.291
Z-score 0.29
OE 0.00 (0.00–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.95Z-score
OE missense 0.35 (0.19–0.70)
6 obs / 17.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–1.89)
0≤0.351.4
Missense OE0.35 (0.19–0.70)
0≤0.61.4
Synonymous OE0.00
0≤1.21.6
LoF obs/exp: 0 / 0.1Missense obs/exp: 6 / 17.0Syn Z: 1.91

ClinVar Variant Classifications

52 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic1
VUS25
Likely Benign8
Benign2
16
Pathogenic
1
Likely Pathogenic
25
VUS
8
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
16
0
16
Likely Pathogenic
0
0
1
0
1
VUS
0
19
6
0
25
Likely Benign
0
4
4
0
8
Benign
0
0
2
0
2
Total02329052

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

View in ClinVar →

Protein Context — Lollipop Plot

TRIM49D1 · 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
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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