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FHIT

Synonyms
AP3Aase, FRA3B
External resources
Summary
The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
4
Likely pathogenic
4
VUS
5,200
Likely benign
45
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on FHIT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of the musculoskeletal system
25%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of limbs
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the immune system
12.5%
Abnormality of the integument
12.5%
Abnormality of the nervous system
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
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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