FAT1

Chr 4

FAT atypical cadherin 1

Also known as: CDHF7, CDHR8, FAT, ME5, hFat1

NCBI Gene: 2195ENSG00000083857UniProt: Q14517

This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane proteins characterized by the presence of cadherin-type repeats. In addition to containing 34 tandem cadherin-type repeats, the gene product has five epidermal growth factor (EGF)-like repeats and one laminin A-G domain. This gene is expressed at high levels in a number of fetal epithelia. Its product probably functions as an adhesion molecule and/or signaling receptor, and is likely to be important in developmental processes and cell communication. Transcript variants derived from alternative splicing and/or alternative promoter usage exist, but they have not been fully described. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
focal segmental glomerulosclerosis · ARStrongappropriate for clinical testing
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
4
Active trials
129
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.43
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
Moderate LoF intolerance
LoF Constraint?
0.43LOEUF
pLI 0.000
Z-score 7.35
OE 0.34 (0.27–0.43)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-0.43Z-score
OE missense 1.02 (0.99–1.06)
2611 obs / 2549.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.34 (0.27–0.43)
0≤0.351.4
Missense OE?1.02 (0.99–1.06)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 49 / 144.2Missense obs/exp: 2611 / 2549.8Syn Z: -2.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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