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BUB1B

Synonyms
BUB1beta, BUBR1, Bub1A, MAD3L, MVA1, SSK1, hBUBR1
External resources
Summary
This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer.

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
30
Likely pathogenic
2
VUS
5,146
Likely benign
1,461
Benign
342

Patient phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on BUB1B gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of head or neck
23.3%
Abnormality of the eye
23.3%
Growth abnormality
20%
Abnormality of the cardiovascular system
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the ear
10%
Abnormality of the musculoskeletal system
10%
Abnormality of blood and blood-forming tissues
3.3%
Abnormality of the endocrine system
3.3%
Abnormality of the integument
3.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
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 immune 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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