FLOT1

Chr 6

flotillin 1

NCBI Gene: 10211ENSG00000137312UniProt: O75955

This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
31
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
Multiple*
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?
0.93LOEUF
pLI 0.000
Z-score 1.87
OE 0.62 (0.42–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.34Z-score
OE missense 0.59 (0.51–0.67)
150 obs / 255.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.62 (0.42–0.93)
0≤0.351.4
Missense OE?0.59 (0.51–0.67)
0≤0.61.4
Synonymous OE?0.74
0≤1.21.6
LoF obs/exp: 17 / 27.6Missense obs/exp: 150 / 255.5Syn Z: 1.99

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FLOT1 · 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