FRAS1

Chr 4AR

Fraser extracellular matrix complex subunit 1

Also known as: FRASRS1

NCBI Gene: 80144ENSG00000138759UniProt: Q86XX4OMIM: 607830

This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Fraser syndrome 1MIM #219000
AR

Clinical highlights

Gene-disease validity (ClinGen)
Fraser syndrome · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
20
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.66
LOEUF
LOF
Mechanism· G2P
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GeneReview available — FRAS1
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?
0.66LOEUF
pLI 0.000
Z-score 5.58
OE 0.56 (0.48–0.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.08Z-score
OE missense 1.00 (0.96–1.03)
2137 obs / 2147.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.56 (0.48–0.66)
0≤0.351.4
Missense OE?1.00 (0.96–1.03)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 104 / 186.1Missense obs/exp: 2137 / 2147.2Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FRAS1 · 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