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TRIM6

Synonyms
RNF89
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, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members.

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
21
Likely pathogenic
0
VUS
1,317
Likely benign
189
Benign
0

Patient phenotypes

Proportions of phenotypes among 21 patients carring pathogenic or likely pathogenic variants on TRIM6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.4%
Abnormality of the integument
23.8%
Abnormality of the musculoskeletal system
23.8%
Abnormality of head or neck
19%
Abnormality of the cardiovascular system
19%
Abnormality of the ear
14.3%
Abnormality of the genitourinary system
14.3%
Growth abnormality
14.3%
Abnormality of the endocrine system
9.5%
Abnormality of the eye
9.5%
Abnormality of limbs
4.8%
Neoplasm
4.8%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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