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    BIOMARKER:

    ATM deletion + SF3B1 mutation

    i
    Other names: ATM, ATA, ATC, ATD, ATDC, TEL1, TELO1, ATM serine/threonine kinase, SF3B1, Splicing Factor 3b Subunit 1, Splicing Factor 3b Subunit 1 155kDa, Spliceosome-Associated Protein 155, Splicing Factor 3B Subunit 1, SF3b155, SAP155, Pre-MRNA Splicing Factor SF3b 155 KDa Subunit, Pre-MRNA-Splicing Factor SF3b 155 KDa Subunit, Splicing Factor 3b Subunit 1 155kD, Pre-MRNA Processing 10, SAP 155, Hsh155, PRPF10, PRP10, MDS
    Entrez ID:
    472; 23451
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    8ms
    SF3B1 mutation and ATM deletion co-drive leukemogenesis via centromeric R-loop dysregulation. (PubMed, J Clin Invest)
    Aberrant splicing of key genes involved in R-loop processing underlies augmentation of cen-R-loop as overexpression of the normal isoform, but not the altered form, mitigates mitotic stress in SF3B1 mutant cells. Our study underscores the critical role of novel splice variants in linking RNA splicing dysregulation and CIN, and highlights cen-R-loop augmen-tation as a key mechanism for leukemogenesis.
    Journal
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    SF3B1 (Splicing Factor 3b Subunit 1)
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    ATM mutation • SF3B1 mutation • ATM deletion • ATM deletion + SF3B1 mutation • ATM expression