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LOC107963955 BCR-ABL major-breakpoint cluster region [ Homo sapiens (human) ]

Gene ID: 107963955, updated on 17-Sep-2024

Summary

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Gene symbol
LOC107963955
Gene description
BCR-ABL major-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 can result 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) gene. Several different BCR-ABL gene fusions have been observed, resulting from recombination with different regions within BCR. The region described here is the most commonly observed recombination event, involving recombination with the major-breakpoint cluster region. The smaller derivative chromosome resulting from this translocation is commonly known as the Philadelphia (Ph) chromosome. Different chimeric BCR-ABL transcripts have been observed as a result of recombination between these regions. The presence of the e13a2 and e14a2 transcripts has been associated with chronic myelogenous leukemia (CML), and the majority of individuals with CML harbor this translocation. The e13a2 and e14a2 transcripts are also observed in some individuals with acute lymphoblastic leukemia (ALL) and a minority of individuals with acute myelogenous leukemia (AML). Recombination within exon 15 has also been observed, and results in a transcript known as e15a2. Individuals with this chimeric transcript had a normal karyotype, but were found to have atypical chronic myeloproliferative disorder. However, a larger sample size is required to confirm this result. In some 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

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See LOC107963955 in Genome Data Viewer
Location:
22q11.23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23289649..23292626)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23712512..23715489)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23631836..23634813)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene BCR activator of RhoGEF and GTPase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18753 Neighboring gene RNA, 7SL, cytoplasmic 263, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23611303-23611973 Neighboring gene BCR-ABL p195 breakpoint cluster region Neighboring gene F-box and WD repeat domain containing 4 pseudogene 1 Neighboring gene BCR-ABL p200 breakpoint cluster region Neighboring gene ReSE screen-validated silencer GRCh37_chr22:23621943-23622250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13538 Neighboring gene uncharacterized LOC107985554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18755 Neighboring gene BCR-ABL p225 breakpoint cluster region Neighboring gene BCR-ABL micro-breakpoint cluster region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23656171-23656672 Neighboring gene POM121 transmembrane nucleoporin like 11, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15419 Neighboring gene ribosomal protein S10 pseudogene 30

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. CHRONIC MYELOID LEUKEMIA COURSE IN PERSONS EXPOSED TO IONIZING RADIATION AS A RESULT OF THE CHORNOBYL ACCIDENT. Dyagil IS, et al. Probl Radiac Med Radiobiol, 2020 Dec. PMID 33361853
  2. Vitamin D and tyrosine kinase inhibitors in chronic myeloid leukemia. Campiotti L, et al. Intern Emerg Med, 2018 Dec. PMID 30255465
  3. Cryptic BCR-ABL fusion gene as variant rearrangement in chronic myeloid leukemia: molecular cytogenetic characterization and influence on TKIs therapy. Luatti S, et al. Oncotarget, 2017 May 2. PMID 28404889, Free PMC Article
  4. Protein tyrosine phosphatase PTP1B suppresses p210 bcr-abl-induced transformation of rat-1 fibroblasts and promotes differentiation of K562 cells. LaMontagne KR Jr, et al. Proc Natl Acad Sci U S A, 1998 Nov 24. PMID 9826659, Free PMC Article
  5. Retrovirally transduced antisense sequences stably suppress P210BCR-ABL expression and inhibit the proliferation of BCR/ABL-containing cell lines. Martiat P, et al. Blood, 1993 Jan 15. PMID 8422466

See all (171) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CHRONIC MYELOID LEUKEMIA COURSE IN PERSONS EXPOSED TO IONIZING RADIATION AS A RESULT OF THE CHORNOBYL ACCIDENT.", trans "PEREBIG KhRONIChNOI MIIeLOIDNOI LEIKEMII U OSIB, IaKI ZAZNALY DII IONIZUIuChOGO VYPROMINIuVANNIa VNASLIDOK ChORNOBYL'S'KOI AVARII.
    Title: CHRONIC MYELOID LEUKEMIA COURSE IN PERSONS EXPOSED TO IONIZING RADIATION AS A RESULT OF THE CHORNOBYL ACCIDENT.
  2. SDMR includes both complete molecular response (CMR), and major molecular response (MMR), defined as undetectable BCR-ABL and a BCR-ABL/ABL1 IS ratio < 0.1% with a 4.5 log sensibility PCR, respectively.
    Title: Vitamin D and tyrosine kinase inhibitors in chronic myeloid leukemia.
  3. USP1 and capital ER, Cyrilliccapital EN, Cyrillic domain of Bcr-Abl oncoprotein colocalize in a model chronic myeloid leukemia cell system.
    Title: Colocalization of USP1 and РН domain of Bcr­Abl oncoprotein in terms of cronic myeloid leukemia cell rearrangements.
  4. most Ph-neg CML patients benefited from TKIs therapy and achieved CCgR and MMR, showing outcome similar to that of Ph+ CML patients. Ph-neg rearrangements could be considered variant BCR/ABL rearrangements, although they involve only the chromosomes 9 and 22, differently to "real" variant translocations.
    Title: Cryptic BCR-ABL fusion gene as variant rearrangement in chronic myeloid leukemia: molecular cytogenetic characterization and influence on TKIs therapy.
  5. a new AHI-1-BCR-ABL-DNM2 protein complex was uncovered, which regulates leukemic properties of these cells through a unique mechanism of cellular endocytosis and ROS-mediated autophagy. Thus, targeting this complex may facilitate eradication of LSCs for curative therapies
    Title: A novel AHI-1-BCR-ABL-DNM2 complex regulates leukemic properties of primitive CML cells through enhanced cellular endocytosis and ROS-mediated autophagy.
  6. The co-existence of BCR-ABL1 and CBFB rearrangement is associated with poor outcome and a clinical course similar to that of CML-BP, and unlike de novo AML with CBFB rearrangement, suggesting that high-intensity chemotherapy with TKI should be considered in these patients.
    Title: Myeloid neoplasms with concurrent BCR-ABL1 and CBFB rearrangements: A series of 10 cases of a clinically aggressive neoplasm.
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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 p210 Philadelphia chromosome recombination region
  • BCR p210 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.

Genomic

  1. NG_050673.1 

    Range
    101..3078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    23289649..23292626
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    23712512..23715489
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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