THBS3

Chr 1

thrombospondin 3

ENSG00000169231UniProt: P49746

Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to fibrinogen, fibronectin, laminin and type V collagen

ResearchGenerating clinical summary…
0
Active trials
18
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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?
0.93LOEUF
pLI 0.000
Z-score 2.00
OE 0.71 (0.56–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.78Z-score
OE missense 0.79 (0.73–0.85)
455 obs / 574.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.56–0.93)
0≤0.351.4
Missense OE?0.79 (0.73–0.85)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 41 / 57.4Missense obs/exp: 455 / 574.9Syn Z: 1.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

THBS3 · 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