Home > Gene Browser > TRIM7

TRIM7

Synonyms
GNIP, RNF90
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, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. 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
189
Likely pathogenic
12
VUS
1,868
Likely benign
25
Benign
0

Patient phenotypes

Proportions of phenotypes among 106 patients carring pathogenic or likely pathogenic variants on TRIM7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
48.1%
Abnormality of the cardiovascular system
23.6%
Abnormality of the musculoskeletal system
23.6%
Abnormality of head or neck
19.8%
Growth abnormality
14.2%
Abnormality of the ear
13.2%
Abnormality of the genitourinary system
13.2%
Abnormality of the eye
12.3%
Abnormality of blood and blood-forming tissues
7.5%
Abnormality of the integument
7.5%
Abnormality of the immune system
6.6%
Abnormality of the digestive system
4.7%
Abnormality of the endocrine system
3.8%
Abnormality of limbs
2.8%
Abnormality of prenatal development or birth
2.8%
Abnormality of the respiratory system
2.8%
Neoplasm
2.8%
Abnormal cellular phenotype
0.9%
Abnormality of the breast
0.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

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