LOC107963951 BCR-ABL minor-breakpoint cluster region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107963951
Gene description: BCR-ABL minor-breakpoint cluster region
Gene type: biological region
Feature type(s): misc_recomb: meiotic, 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. The region described here is thought to undergo recombination less frequently than that of the major-breakpoint recombination region, found downstream of this region. The smaller derivative chromosome resulting from this translocation is commonly known as the Philadelphia (Ph) chromosome. A chimeric BCR-ABL transcript, known as the e1a2 transcript, has been observed as a result of recombination between these regions. This transcript produces a 190-kDa chimeric protein known as p190. The p190 protein has abnormal tyrosine kinase activity. The presence of this fusion gene has been observed in about 25% of adults with acute lymphoblastic leukemia (ALL), and in a significantly smaller percentage of pediatric ALL cases. Analysis of recombination breakpoints is consistent with recombination occurring through a non-homologous end joining (NHEJ) pathway. 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]
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Genomic context

Location:: 22q11.23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23217698..23253190)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (23640557..23676069)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (23559885..23595377)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Presence of fusion the genes BCR/ABL1, ETV6/RUNX1, and MLL/AF4 does not have any impact on the clinical and laboratory features of ALL at presentation.
Title: Frequency and clinical impact of ETV6/RUNX1, AF4-MLL, and BCR/ABL fusion genes on features of acute lymphoblastic leukemia at presentation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

BCR p190 Philadelphia chromosome recombination region
BCR p190 breakpoint recombination region
t(9;22)(q34;q11) m-BCR recombination region

NCBI Reference Sequences (RefSeq)

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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.