Symbol
| ASXL1
| contributors: mct - updated : 29-11-2016
|
HGNC name
| additional sex combs like 1 (Drosophila)
|
HGNC id
| 18318
|
corresponding disease(s)
|
BOPS
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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tumoral
| fusion
|  
|  
|  
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with PAX5, in t(9;20)(p11-13;q11) in patients with acute lymphoblastic leukemia | tumoral
|  
| deletion
|  
|  
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with high frequencies in multiple forms of myeloid malignancies, and its alterations are associated with poor prognosis | tumoral
| somatic mutation
|  
|  
|  
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associated with CSF3R and/or SETBP1 mutation in chronic neutrophilic leukemia (CNL) | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| Asxl1 knockout mice exhibit defects in frequency of differentiation of lymphoid and myeloid progenitors, but not in multipotent progenitors | |
Asxl1 deletion in mice led to developmental abnormalities including dwarfism, anophthalmia, and 80% embryonic lethality |