FBXW7 Chromosome 4
F-box and WD repeat domain containing 7
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What This Gene Does
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 was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"WD repeat domain containing|F-box and WD repeat domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
4q31.3
Ensembl
ENSG00000109670
Associated Conditions (19)
Cervical cancer
Colorectal cancer
Squamous cell lung carcinoma
FBXW7-related disorder
FBXW7-related neurodevelopmental disorder
Medulloblastoma WNT activated
Medulloblastoma non-WNT/non-SHH group 3
Embryonal rhabdomyosarcoma
Diffuse pediatric-type high-grade glioma
H3-wildtype and IDH-wildtype
Alveolar rhabdomyosarcoma
Neurodevelopmental disorder
Developmental delay
hypotonia
and impaired language
Pervasive developmental disorder
Inborn genetic diseases
EBV-positive nodal T- and NK-cell lymphoma
Neoplasm
Key Variants
RS1057519896
Conflicting classifications of pathogenicity
Health Risk
RS1729492561
Conflicting classifications of pathogenicity
Cervical cancer, Colorectal cancer, Squamous cell lung carcinoma
Health Risk
RS2126536419
Conflicting classifications of pathogenicity
FBXW7-related disorder, FBXW7-related disorder
Health Risk
RS149680468
Likely pathogenic
FBXW7-related neurodevelopmental disorder, Medulloblastoma WNT activated, Medulloblastoma non-WNT/non-SHH group 3
Health Risk
RS2126464225
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2126466009
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2126476768
Likely pathogenic
FBXW7-related disorder, FBXW7-related disorder
Health Risk
RS2126497313
Likely pathogenic
Developmental delay, hypotonia, and impaired language
Health Risk
RS2126497487
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2126516184
Likely pathogenic
Health Risk
RS2126583593
Likely pathogenic
Neurodevelopmental disorder, Medulloblastoma WNT activated, Neurodevelopmental disorder
Health Risk
RS2530127005
Likely pathogenic
Developmental delay, hypotonia, and impaired language
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519896 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1729492561 | Health Risk | Conflicting classifications of pathogenicity | Cervical cancer, Colorectal cancer, Squamous cell lung carcinoma |
| RS2126536419 | Health Risk | Conflicting classifications of pathogenicity | FBXW7-related disorder, FBXW7-related disorder |
| RS149680468 | Health Risk | Likely pathogenic | FBXW7-related neurodevelopmental disorder, Medulloblastoma WNT activated, Medulloblastoma non-WNT/non-SHH group 3 |
| RS2126464225 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2126466009 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2126476768 | Health Risk | Likely pathogenic | FBXW7-related disorder, FBXW7-related disorder |
| RS2126497313 | Health Risk | Likely pathogenic | Developmental delay, hypotonia, and impaired language |
| RS2126497487 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2126516184 | Health Risk | Likely pathogenic | — |
| RS2126583593 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Medulloblastoma WNT activated, Neurodevelopmental disorder |
| RS2530127005 | Health Risk | Likely pathogenic | Developmental delay, hypotonia, and impaired language |
| RS2530191471 | Health Risk | Likely pathogenic | Developmental delay, hypotonia, and impaired language |
| RS2530218156 | Health Risk | Likely pathogenic | FBXW7-related disorder, FBXW7-related disorder |
| RS2530234915 | Health Risk | Likely pathogenic | Developmental delay, hypotonia, and impaired language |
| RS2530775982 | Health Risk | Likely pathogenic | Developmental delay, hypotonia, and impaired language |
| RS1406877044 | Health Risk | Pathogenic | — |
| RS140856583 | Health Risk | Pathogenic | Developmental delay, hypotonia, and impaired language |
| RS1737970426 | Health Risk | Pathogenic | Colorectal cancer, Colorectal cancer |
| RS2126459625 | Health Risk | Pathogenic | Developmental delay, hypotonia, and impaired language |
| RS2126475180 | Health Risk | Pathogenic | FBXW7-related disorder, FBXW7-related disorder |
| RS2126479012 | Health Risk | Pathogenic | Developmental delay, hypotonia, and impaired language |
| RS2126515961 | Health Risk | Pathogenic | Developmental delay, hypotonia, and impaired language |
| RS2126525665 | Health Risk | Pathogenic | Medulloblastoma WNT activated, Medulloblastoma WNT activated |
| RS2126584285 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS867384286 | Health Risk | Pathogenic | Neoplasm, Colorectal cancer, Neoplasm |
| RS2126459661 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay, hypotonia, and impaired language |