Home > Gene Browser > TRIM5

TRIM5

Synonyms
RNF88, TRIM5alpha
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 forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described 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
68
Likely pathogenic
1,334
VUS
9,517
Likely benign
3,519
Benign
0

Patient phenotypes

Proportions of phenotypes among 1392 patients carring pathogenic or likely pathogenic variants on TRIM5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39%
Abnormality of the eye
25.7%
Abnormality of the musculoskeletal system
24.4%
Abnormality of head or neck
18.3%
Abnormality of the cardiovascular system
17.8%
Abnormality of the ear
13%
Growth abnormality
11.3%
Abnormality of the genitourinary system
9.6%
Abnormality of the integument
8.5%
Abnormality of limbs
8.1%
Abnormality of the digestive system
7.5%
Abnormality of blood and blood-forming tissues
6.5%
Abnormality of the immune system
6.4%
Abnormality of the endocrine system
4%
Neoplasm
2.9%
Abnormality of the respiratory system
2.9%
Abnormality of prenatal development or birth
2.2%
Constitutional symptom
1.9%
Abnormal cellular phenotype
0.7%
Abnormality of the voice
0.7%
Abnormality of the breast
0.2%
Abnormality of the thoracic cavity
0.1%
Abnormality of metabolism homeostasis
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes