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Gene: LOC107963948 (BCR-ABL micro-breakpoint cluster region) Homo sapiens
Symbol: LOC107963948
Name: BCR-ABL micro-breakpoint cluster region
RGD ID: 38651535
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. The smaller derivative chromosome resulting from this translocation is commonly known as the Philadelphia (Ph) chromosome. Fusion transcripts of BCR-ABL as a result of recombination between these regions, results in a transcript known as the e19a2 transcripts, and produces a 230-kDa chimeric protein known as p230. The p230 protein has abnormal tyrosine kinase activity. The presence of this fusion gene has been observed in some individuals with neutrophilic chronic myelogenous leukemia (N-CML), as well as in individuals with chronic myelogenous leukemia (CML) and acute myeloid leukemia (AML). This recombination event occurs less frequently than that of other leukemias that contain the Philadelphia chromosome, namely those resulting from recombination with the major- and minor-breakpoint cluster regions. [provided by RefSeq, May 2016]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh382223,312,488 - 23,312,880 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map22q11.23NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
References - uncurated




Nucleotide Sequences
Clinical Variants

Additional Information

External Database Links
More on LOC107963948
Ensembl Gene
JBrowse: hg38
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 38651535
Created: 2020-09-16
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE


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