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TPT1

Synonyms
HRF, TCTP, p02, p23
External resources
Summary
This gene encodes a protein that is a regulator of cellular growth and proliferation. Its mRNA is highly structured and contains an oligopyrimidine tract (5'-TOP) in its 5' untranslated region that functions to repress its translation under quiescent conditions. The encoded protein is involved in a variety of cellular pathways, including apoptosis, protein synthesis and cell division. It binds to and stabilizes microtubules, and removal of this protein through phosphorylation is required for progression through mitotic and meiotic cell divisions. This gene is known to play a role in carcinogenesis, and is upregulated in some cancer cells. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
28
Likely pathogenic
0
VUS
1,259
Likely benign
50
Benign
0

Patient Phenotypes

Proportions of phenotypes among 28 patients carrying pathogenic or likely pathogenic variants on TPT1 gene are displayed below. The following symptoms were found in patients with a variant in TPT1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the musculoskeletal system
42.9%
Abnormality of head or neck
35.7%
Abnormality of the ear
25%
Abnormality of limbs
21.4%
Abnormality of the cardiovascular system
17.9%
Abnormality of the eye
14.3%
Growth abnormality
14.3%
Abnormality of metabolism homeostasis
10.7%
Abnormality of the endocrine system
10.7%
Abnormality of the digestive system
7.1%
Abnormality of the genitourinary system
7.1%
Abnormality of the integument
7.1%
Abnormality of the respiratory system
7.1%
Abnormality of blood and blood forming tissues
3.6%
Abnormality of the immune system
3.6%
Constitutional symptom
3.6%
Neoplasm
3.6%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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