LOC107966125 BCR-ABL p225 breakpoint cluster region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107966125
Gene description: BCR-ABL p225 breakpoint cluster region
Gene type: biological region
Feature type(s): misc_recomb: mitotic
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 22q11.23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23310395..23310413)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (23733252..23733270)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (23652582..23652600)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

BCR p225 Philadelphia chromosome recombination region
BCR p225 breakpoint recombination region
t(9;22)(q34;q11) e18a2 recombination region

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.