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FBXL5

Synonyms
FBL4, FBL5, FLR1
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. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
0
VUS
3,498
Likely benign
682
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on FBXL5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of the eye
36.4%
Abnormality of the digestive system
27.3%
Abnormality of the musculoskeletal system
27.3%
Abnormality of head or neck
18.2%
Abnormality of limbs
18.2%
Abnormality of the cardiovascular system
18.2%
Growth abnormality
18.2%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the immune system
9.1%
Abnormality of the integument
9.1%
Abnormal cellular phenotype
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 genitourinary 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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