OntologiesncitclassesNCIT:C94600   
BCR/ABL1 Fusion Gene
http://purl.obolibrary.org/obo/NCIT_C94600

A fusion gene that results from a translocation t(9;22)(q34;q11) that fuses the 5' part of the BCR gene to the 5' side of exon 2 of the ABL1 gene. There are 3 potential products that are formed depending on which BCR exon has the breakpoint. All of the protein products have constitutively active tyrosine kinase activity. This fusion is associated with both chronic myeloid leukemia and acute lymphoblastic leukemia.

Exact Synonyms
BCR-ABL Fusion Gene
BCR-ABL fusion gene
BCR-ABL Oncogene
BCR-ABL Rearrangement
BCR-ABL Translocation Mutation
BCR-ABL1 Fusion Gene
BCR-ABL1 Translocation
BCR-ABL
BCR/ABL Translocation
BCR/ABL1 Fusion Gene
BCR::ABL1 Fusion Gene
    class Information
    ALT_DEFINITION

    A gene formed when pieces of chromosomes 9 and 22 break off and trade places. The ABL gene from chromosome 9 joins to the BCR gene on chromosome 22, to form the BCR-ABL fusion gene. The changed chromosome 22 with the fusion gene on it is called the Philadelphia chromosome. The BCR-ABL fusion gene is found in most patients with chronic myelogenous leukemia (CML), and in some patients with acute lymphoblastic leukemia (ALL) or acute myelogenous leukemia (AML).

    code

    C94600

    Contributing_Source
    • CPTAC
    • CTRP
    Display_Name

    BCR/ABL1 Fusion Gene

    Preferred_Name

    BCR/ABL1 Fusion Gene

    Related_To_Genetic_Biomarker
    Semantic_Type

    Gene or Genome

    UMLS_CUI

    C1835417

    class Relations