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FBXO41

Synonyms
FBX41
External resources
Summary
This gene encodes a member of the F-box protein family, which is characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein ligase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the FBXO class.

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
11
Likely pathogenic
0
VUS
4,441
Likely benign
274
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on FBXO41 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
88.9%
Abnormality of head or neck
77.8%
Abnormality of the musculoskeletal system
77.8%
Growth abnormality
33.3%
Abnormality of the digestive system
22.2%
Abnormality of the genitourinary system
22.2%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the eye
11.1%
Abnormality of the integument
11.1%
Abnormality of the respiratory system
11.1%
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 ear
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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