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TRIM36

Synonyms
ANPH, HAPRIN, RBCC728, RNF98
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. Multiple alternatively spliced transcript variants that encode different protein 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
12
Likely pathogenic
1
VUS
1,134
Likely benign
1,313
Benign
11

Patient Phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on TRIM36 gene are displayed below. The following symptoms were found in patients with a variant in TRIM36. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
38.5%
Abnormality of the integument
23.1%
Abnormality of the nervous system
23.1%
Abnormality of head or neck
15.4%
Abnormality of metabolism homeostasis
15.4%
Abnormality of the cardiovascular system
15.4%
Abnormality of the eye
15.4%
Growth abnormality
15.4%
Abnormality of blood and blood forming tissues
7.7%
Abnormality of limbs
7.7%
Abnormality of prenatal development or birth
7.7%
Abnormality of the breast
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the immune system
7.7%
Abnormality of the musculoskeletal system
7.7%
Abnormality of the respiratory system
7.7%
Constitutional symptom
7.7%
Neoplasm
7.7%
Abnormal cellular phenotype
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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