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BCR/ABL1 Fusion Gene

Go to external page 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. [ ]

Term info

Label

BCR/ABL1 Fusion Gene

Synonyms
  • BCR-ABL
  • BCR-ABL Fusion Gene
  • BCR-ABL Oncogene
  • BCR-ABL Rearrangement
  • BCR-ABL Translocation Mutation
  • BCR-ABL fusion gene
  • BCR-ABL1 Fusion Gene
  • BCR-ABL1 Translocation
  • BCR/ABL Translocation
  • BCR/ABL1 Fusion Gene
Subsets

NCIT_C156953, NCIT_C156952, NCIT_C116977, NCIT_C159339, NCIT_C142800, NCIT_C142799

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).

Contributing Source

CTRP, CPTAC

Display Name

BCR/ABL1 Fusion Gene

Preferred Name

BCR/ABL1 Fusion Gene

Related To Genetic Biomarker

http://purl.obolibrary.org/obo/NCIT_C17346, http://purl.obolibrary.org/obo/NCIT_C18455

Semantic Type

Gene or Genome

UMLS CUI

C1835417

code

C94600