Symbol
| FBXW7
| contributors: mct/shn - updated : 13-04-2017
|
HGNC name
| F-box and WD repeat domain containing 7
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HGNC id
| 16712
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corresponding disease(s)
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NDDBHG
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Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
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tumoral
| somatic mutation
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in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability | tumoral
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| --low
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in thymoma | tumoral
| somatic mutation
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in leukemic cells from more than 30p100 of patients with pediatric T-ALL and derived cell lines, and patients carrying FBXW7 and/or NOTCH1 mutations have a favorable overall survival | tumoral
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mutated or deleted in Wilms'tumor | constitutional
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| loss of function
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promotes adipocyte differentiation of human adult stem cells | |
Variant & Polymorphism
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Candidate gene
Marker
Therapy target
|
System | Type | Disorder | Pubmed |
tumor | thymus | | |
target for therapeutic approaches in thymoma | neurology | neurodegenerative | | |
could be a target of myelin-promoting therapies |
| | | |
| mice lacking the Fbw7 F-box protein die around 10.5 days post coitus because of a combination of deficiencies in hematopoietic and vascular development and heart chamber maturation | |
Fbxw7+/- mice have greater susceptibility to radiation-induced tumorigenesis |
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inactivation of Fbxw7 in hematopoietic cells causes premature depletion of hematopoietic stem cell (MID: 18367647) |
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absence of Fbw7 in the mouse brain caused severely impaired stem cell differentiation and increased progenitor cell death |
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neural stemness is potentially excessively maintained in Fbxw7-deficient mice |