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TRIM4

Synonyms
RNF87
External resources
Summary
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms 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
18
Likely pathogenic
12
VUS
3,425
Likely benign
90
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on TRIM4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.4%
Abnormality of the eye
27.6%
Abnormality of the musculoskeletal system
24.1%
Abnormality of head or neck
17.2%
Abnormality of the cardiovascular system
17.2%
Abnormality of limbs
13.8%
Abnormality of the ear
13.8%
Growth abnormality
13.8%
Abnormality of blood and blood-forming tissues
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of the integument
10.3%
Constitutional symptom
10.3%
Abnormality of prenatal development or birth
6.9%
Abnormality of the digestive system
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of the respiratory system
3.4%
Neoplasm
3.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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