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TRIM31

Synonyms
C6orf13, HCG1, HCGI, RNF
External resources
Summary
This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants.

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
4
VUS
3,046
Likely benign
198
Benign
0

Patient Phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on TRIM31 gene are displayed below. The following symptoms were found in patients with a variant in TRIM31. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
42.9%
Abnormality of head or neck
28.6%
Growth abnormality
28.6%
Abnormality of the integument
21.4%
Abnormality of limbs
14.3%
Abnormality of prenatal development or birth
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the cardiovascular system
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the immune system
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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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