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TRIML1

Synonyms
RNF209
External resources
Summary
The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage.

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
14
Likely pathogenic
0
VUS
8,479
Likely benign
284
Benign
0

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on TRIML1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.7%
Abnormality of the ear
28.6%
Abnormality of the musculoskeletal system
21.4%
Abnormality of head or neck
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of the eye
7.1%
Abnormality of the genitourinary system
7.1%
Growth abnormality
7.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
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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