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Gene: LOC107966125 (BCR-ABL p225 breakpoint cluster region) Homo sapiens
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Symbol: LOC107966125
Name: BCR-ABL p225 breakpoint cluster region
RGD ID: 38672700
Description: This region is known to undergo mitotic DNA recombination with another region, the ABL breakpoint region, located on the q arm of chromosome 9. Recombination between these two regions results in a translocation known as the t(9;22)(q34;q11) rearrangement, and can produce gene fusions involving the BCR, RhoGEF and GTPase activating protein (BCR) gene and the ABL proto-oncogene 1, non-receptor tyrosine kinase (ABL1) genes. Several different BCR-ABL gene fusions have been observed, resulting from recombination with different regions within BCR. Recombination between the region described here and the ABL breakpoint region results in a chimeric BCR-ABL transcript, known as the e18a2 transcript, and produces a 225-kDa chimeric protein known as p225. The BCR-ABL oncogene produced by this translocation event has been implicated in hematological malignancies, but is observed much less frequently than that of other BCR rearrangements, such as those producing the p210 and p190 chimeric BCR-ABL proteins. A mechanism to explain this recombination event has yet to be determined, but it has been noted that BCR and ABL tend to be in close physical proximity during cell division in hematopoietic stem cells. This close proximity could provide opportunities for aberrant recombination in the event of double strand break formation. [provided by RefSeq, May 2016]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382223,310,395 - 23,310,413 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map22q11.23NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
References - uncurated

Genomics


Expression


Sequence

Nucleotide Sequences
Clinical Variants

Additional Information

External Database Links
 
More on LOC107966125
NCBI Gene
Ensembl Gene
JBrowse: hg38
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RGD Object Information
RGD ID: 38672700
Created: 2020-09-16
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.