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FLASH GENE
Symbol ASXL1 contributors: mct - updated : 29-11-2016
HGNC name additional sex combs like 1 (Drosophila)
HGNC id 18318
ASSOCIATED DISORDERS
corresponding disease(s) BOPS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
with PAX5, in t(9;20)(p11-13;q11) in patients with acute lymphoblastic leukemia
tumoral   deletion    
with high frequencies in multiple forms of myeloid malignancies, and its alterations are associated with poor prognosis
tumoral somatic mutation      
associated with CSF3R and/or SETBP1 mutation in chronic neutrophilic leukemia (CNL)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • 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