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FETUB

Synonyms
16G2, Gugu, IRL685
External resources
Summary
The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells.

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
20
Likely pathogenic
0
VUS
1,554
Likely benign
109
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carring pathogenic or likely pathogenic variants on FETUB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35%
Abnormality of the musculoskeletal system
30%
Abnormality of the eye
20%
Abnormality of head or neck
10%
Abnormality of the ear
10%
Abnormality of limbs
5%
Abnormality of the cardiovascular system
5%
Abnormality of the endocrine system
5%
Abnormality of the genitourinary system
5%
Abnormality of the immune system
5%
Growth abnormality
5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive 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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