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FAT1

Synonyms
CDHF7, CDHR8, FAT, ME5, hFat1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
24
Likely pathogenic
0
VUS
9,828
Likely benign
17,382
Benign
4,556

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on FAT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
50%
Abnormality of head or neck
22.2%
Abnormality of the genitourinary system
22.2%
Abnormality of the musculoskeletal system
22.2%
Abnormality of the nervous system
22.2%
Abnormality of the eye
16.7%
Growth abnormality
16.7%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the immune system
5.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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