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POT1

Synonyms
CMM10, GLM9, HPOT1
External resources
Summary
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described.

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
6
Likely pathogenic
0
VUS
768
Likely benign
1,813
Benign
1,370

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on POT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
33.3%
Abnormality of the eye
33.3%
Abnormality of the integument
33.3%
Abnormality of the musculoskeletal system
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of head or neck
16.7%
Abnormality of limbs
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the nervous system
16.7%
Growth abnormality
16.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine 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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