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FOXO3

Synonyms
AF6q21, FKHRL1, FKHRL1P2, FOXO2, FOXO3A
External resources
Summary
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed.

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
148
Likely pathogenic
0
VUS
1,396
Likely benign
1,572
Benign
0

Patient phenotypes

Proportions of phenotypes among 148 patients carrying pathogenic or likely pathogenic variants on FOXO3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.8%
Abnormality of the cardiovascular system
29.1%
Abnormality of the musculoskeletal system
25.7%
Abnormality of head or neck
22.3%
Abnormality of the eye
21.6%
Growth abnormality
13.5%
Abnormality of the genitourinary system
10.8%
Abnormality of the ear
10.1%
Abnormality of limbs
8.8%
Abnormality of the integument
8.8%
Abnormality of the digestive system
6.1%
Abnormality of the respiratory system
4.7%
Abnormality of prenatal development or birth
4.1%
Abnormality of the immune system
4.1%
Abnormality of the endocrine system
3.4%
Abnormality of blood and blood-forming tissues
2%
Abnormality of the breast
1.4%
Neoplasm
1.4%
Abnormal cellular phenotype
0.7%
Abnormality of the voice
0.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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