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TTK

Synonyms
CT96, ESK, MPH1, MPS1, MPS1L1, PYT
External resources
Summary
This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants.

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
143
Likely pathogenic
0
VUS
4,690
Likely benign
462
Benign
0

Patient phenotypes

Proportions of phenotypes among 97 patients carring pathogenic or likely pathogenic variants on TTK gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34%
Abnormality of the musculoskeletal system
28.9%
Abnormality of head or neck
20.6%
Abnormality of the eye
19.6%
Abnormality of the ear
16.5%
Growth abnormality
16.5%
Abnormality of the cardiovascular system
9.3%
Abnormality of limbs
8.2%
Abnormality of the integument
8.2%
Abnormality of the genitourinary system
7.2%
Abnormality of the immune system
6.2%
Abnormality of blood and blood-forming tissues
5.2%
Abnormality of the respiratory system
5.2%
Abnormality of the digestive system
4.1%
Abnormality of prenatal development or birth
3.1%
Neoplasm
3.1%
Abnormality of the endocrine system
2.1%
Abnormality of the breast
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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