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TUB

Synonyms
RDOB, rd5
External resources
Summary
This gene encodes a member of the Tubby family of bipartite transcription factors. The encoded protein may play a role in obesity and sensorineural degradation. The crystal structure has been determined for a similar protein in mouse, and it functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis. Two transcript variants encoding distinct isoforms have been identified for this gene.

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
86
Likely pathogenic
4
VUS
4,403
Likely benign
1,809
Benign
185

Patient phenotypes

Proportions of phenotypes among 90 patients carrying pathogenic or likely pathogenic variants on TUB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.4%
Abnormality of the cardiovascular system
33.3%
Abnormality of the musculoskeletal system
27.8%
Abnormality of head or neck
22.2%
Abnormality of the ear
13.3%
Growth abnormality
13.3%
Abnormality of the eye
12.2%
Abnormality of limbs
11.1%
Abnormality of the genitourinary system
10%
Abnormality of the integument
7.8%
Abnormality of prenatal development or birth
6.7%
Abnormality of the endocrine system
5.6%
Abnormality of the digestive system
4.4%
Abnormality of the respiratory system
3.3%
Abnormality of blood and blood-forming tissues
1.1%
Abnormality of the immune system
1.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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