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TRIM38

Synonyms
RNF15, RORET
External resources
Summary
This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4.

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
10
Likely pathogenic
0
VUS
693
Likely benign
203
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on TRIM38 gene are displayed below. The following symptoms were found in patients with a variant in TRIM38. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
40%
Abnormality of the nervous system
40%
Abnormality of the ear
30%
Abnormality of the musculoskeletal system
20%
Growth abnormality
20%
Abnormality of limbs
10%
Abnormality of metabolism homeostasis
10%
Abnormality of the cardiovascular system
10%
Abnormality of the eye
10%
Abnormality of the genitourinary system
10%
Abnormality of the immune system
10%
Abnormality of the integument
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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