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GTSE1

Synonyms
B99
External resources
Summary
The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis.

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
38
Likely pathogenic
0
VUS
2,765
Likely benign
120
Benign
0

Patient phenotypes

Proportions of phenotypes among 38 patients carring pathogenic or likely pathogenic variants on GTSE1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.7%
Abnormality of the cardiovascular system
21.1%
Abnormality of the ear
18.4%
Growth abnormality
15.8%
Abnormality of the eye
13.2%
Abnormality of the integument
13.2%
Abnormality of the musculoskeletal system
13.2%
Abnormality of head or neck
10.5%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of limbs
5.3%
Abnormality of the immune system
5.3%
Abnormality of the respiratory system
5.3%
Abnormality of prenatal development or birth
2.6%
Abnormality of the digestive system
2.6%
Abnormality of the genitourinary system
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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