FREM3

Chr 4

FRAS1 related extracellular matrix 3

NCBI Gene: 166752ENSG00000183090UniProt: P0C091OMIM: 608946

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesion. [provided by RefSeq, Feb 2017]

GeneReviewsOMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.88
LOEUF
DN
Mechanism· predicted
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GeneReview available — FREM3
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 2.31
OE 0.67 (0.52–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.97Z-score
OE missense 0.75 (0.71–0.80)
843 obs / 1123.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.67 (0.52–0.88)
0≤0.351.4
Missense OE?0.75 (0.71–0.80)
0≤0.61.4
Synonymous OE?0.74
0≤1.21.6
LoF obs/exp: 39 / 58.0Missense obs/exp: 843 / 1123.1Syn Z: 4.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FREM3 · 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