FBLN7

Chr 2

fibulin 7

Also known as: TM14

NCBI Gene: 129804ENSG00000144152UniProt: Q53RD9

Predicted to enable calcium ion binding activity; heparan sulfate proteoglycan binding activity; and heparin binding activity. Predicted to be involved in cell adhesion. Located in focal adhesion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

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?
0.96LOEUF
pLI 0.000
Z-score 1.70
OE 0.58 (0.36–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.15Z-score
OE missense 0.81 (0.72–0.90)
225 obs / 278.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.36–0.96)
0≤0.351.4
Missense OE?0.81 (0.72–0.90)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 11 / 19.0Missense obs/exp: 225 / 278.9Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FBLN7 · 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