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SAGE1

Synonyms
CT14, SAGE
External resources
Summary
This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas.

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
15
Likely pathogenic
0
VUS
14,381
Likely benign
570
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on SAGE1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
64.3%
Abnormality of head or neck
21.4%
Abnormality of the eye
21.4%
Abnormality of the immune system
21.4%
Abnormality of the integument
21.4%
Abnormality of the musculoskeletal system
21.4%
Growth abnormality
21.4%
Abnormal cellular phenotype
7.1%
Abnormality of limbs
7.1%
Abnormality of the breast
7.1%
Abnormality of the cardiovascular system
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the ear
7.1%
Abnormality of the respiratory system
7.1%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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