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TCEA2

Synonyms
TFIIS
External resources
Summary
The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene.

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
19
Likely pathogenic
0
VUS
2,598
Likely benign
21
Benign
0

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on TCEA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.9%
Abnormality of the musculoskeletal system
42.1%
Abnormality of head or neck
36.8%
Growth abnormality
31.6%
Abnormality of the cardiovascular system
26.3%
Abnormality of the digestive system
26.3%
Abnormality of the eye
21.1%
Abnormality of the genitourinary system
21.1%
Abnormality of limbs
15.8%
Abnormality of blood and blood-forming tissues
10.5%
Abnormality of the ear
10.5%
Abnormality of the immune system
10.5%
Abnormality of the integument
10.5%
Abnormality of prenatal development or birth
5.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine 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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