ABL1

Primary Author(s)*

Brian Davis, PhD

Synonyms

ABL proto-oncogene 1 non-receptor tyrosine kinase, Abelson tyrosine-protein kinase 1, ABL, JTK7, p150, c-ABL, v-abl, CHDSKM, c-ABL1; bcr/abl

Genomic Location

Cytoband: 9q34.12

Genomic Coordinates:

chr9:130,713,881-130,887,675(GRCh38/hg38)

chr9:133,589,268-133,763,062(GRCh37/hg19)

Cancer Category/Type

Chronic Myeloid Leukemia (also referred as (Chronic Myelogenous Leukemia)

Approximately 100% of patients diagnosed with Chronic Myeloid Leukemia bear a Philadelphia chromosome t(9;22)(q34.1;q11.2), which is a reciprocal translocation between chromosome 22 (BCR locus) and chromosome 9 (ABL1 locus (1).

Acute Myeloid Leukemia

Approximately 20% of patients diagnosed with Acute Myeloid Leukemia bear a Philadelphia chromosome t(9;22)(q34.1;q11.2), which is a reciprocal translocation between chromosome 22 (BCR locus) and chromosome 9 (ABL1 locus) (1).

Gene Overview

The ABL1 gene encodes for a non-receptor tyrosine kinase that is ubiquitously expressed and involved in a large number of cellular processes (see "NCBI Gene). A reciprocal translocation between chromosome 22 (BCR locus) and chromosome 9 (ABL1 locus) produces the Philadelphia chromosome, which is prevalent in chronic myeloid leukemia (1, 2).

Common Alteration Types

Put your text here and/or fill in the table with an X where applicable

Copy Number Loss	Copy Number Gain	LOH	Loss-of-Function Mutation	Gain-of-Function Mutation	Translocation/Fusion
EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X	EXAMPLE: X

Internal Pages

Put your text here

EXAMPLE Germline Cancer Predisposition Genes

External Links

Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.

EXAMPLES

ABL1 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

ABL1 by COSMIC - sequence information, expression, catalogue of mutations

ABL1 by CIViC - general knowledge and evidence-based variant specific information

ABL1 by St. Jude ProteinPaint mutational landscape and matched expression data.

ABL1 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

ABL1 by Cancer Index - gene, pathway, publication information matched to cancer type

ABL1 by OncoKB - mutational landscape, mutation effect, variant classification

ABL1 by My Cancer Genome - brief gene overview

ABL1 by UniProt - protein and molecular structure and function

ABL1 by Pfam - gene and protein structure and function information

ABL1 by GeneCards - general gene information and summaries

"ABL1" by NCBI Gene - general gene information

References

1. Drucker, BJ et al. (2001). Activity of a Specific Inhibitor of the BCR-ABL Tyrosine Kinase in the Blast Crisis of Chronic Myeloid Leukemia and Acute Lymphoblastic Leukemia with the Philadelphia Chromosome. NEJM 344:1038-1042 PMID 11287973. DOI: 10.1056/NEJM200104053441402

2. Faderl, S et al. (1999). The Biology of Chronic Myeloid Leukemia. NEJM 341:164-172. PMID 10403855. DOI: 10.1056/NEJM199907153410306

3.

Notes

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