Gene: ABL1

Alternate names for this Gene: ABL|BCR-ABL|CHDSKM|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-abl

Gene Summary: This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.12

Description of this Gene: ABL proto-oncogene 1, non-receptor tyrosine kinase

Type of Gene: protein-coding

rs1060499548 in ABL1 gene and 2-3 toe syndactyly PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499547 in ABL1 gene and Abnormality of skeletal morphology PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs121913459 in ABL1 gene and Acute lymphoblastic leukemia with lymphomatous features PMID 11861307 2002 Ph(+) acute lymphoblastic leukemia resistant to the tyrosine kinase inhibitor STI571 has a unique BCR-ABL gene mutation.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 22772060 2013 MK-0457, an Aurora kinase and BCR-ABL inhibitor, is active in patients with BCR-ABL T315I leukemia.

PMID 18615627 2008 Kinase domain point mutations in Philadelphia chromosome-positive acute lymphoblastic leukemia emerge after therapy with BCR-ABL kinase inhibitors.

PMID 11853795 2002 BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study.

rs1060499548 in ABL1 gene and Anus, Imperforate PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Atrial Septal Defects PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Broad eyebrow PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Clinodactyly of the 5th finger PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Congenital diaphragmatic hernia PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499547 in ABL1 gene and Congenital heart disease PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Congenital pectus excavatum PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1800609 in ABL1 gene and Coronary heart disease PMID 23364394 2013 A genome-wide association study of a coronary artery disease risk variant.

rs1060499548 in ABL1 gene and Cryptorchidism PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Cutis marmorata PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Dimple chin PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499547 in ABL1 gene and Failure to gain weight PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Flexion contracture PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Frontal bossing PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Intrauterine retardation PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Macrotia PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Microcephaly (physical finding) PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Micrognathism PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Microstomia PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1057519758 in ABL1 gene and Myeloid Leukemia, Chronic PMID 21895409 2011 Use of direct sequencing for detection of mutations in the BCR-ABL kinase domain in Slovak patients with chronic myeloid leukemia.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 14745431 2004 High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib.

PMID 15510211 2005 Evidence for D276G and L364I Bcr-Abl mutations in Ph+ leukaemic cells obtained from patients resistant to Imatinib.

PMID 24456693 2014 BCR-ABL kinase domain mutations, including 2 novel mutations in imatinib resistant Malaysian chronic myeloid leukemia patients-Frequency and clinical outcome.

PMID 21562040 2011 BCR-ABL kinase domain mutation analysis in chronic myeloid leukemia patients treated with tyrosine kinase inhibitors: recommendations from an expert panel on behalf of European LeukemiaNet.

PMID 12623848 2003 Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis.

PMID 11423618 2001 Clinical resistance to STI-571 cancer therapy caused by BCR-ABL gene mutation or amplification.

PMID 22912393 2012 Polyfunctional E255K-specific CD8+ T cells were detected in two imatinib-resistant HLA-A3+ CML patients concurrent with an effective anti-CML response to further therapy.

PMID 11567109 2001 Roots of clinical resistance to STI-571 cancer therapy.

PMID 11964322 2002 High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance.

PMID 23676790 2013 Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib.

PMID 22210874 2012 Specific imatinib-resistant BCR-ABL1 mutations (Y253H, E255K/V, T315I, F317L, and F359V/C) predict failure of second-line nilotinib or dasatinib therapy in patients with chronic myeloid leukemia; however, such therapy also fails in approximately 40% of patients in the chronic phase of this disease who do not have these resistant mutations.

PMID 21509757 2011 Practical advice for determining the role of BCR-ABL mutations in guiding tyrosine kinase inhibitor therapy in patients with chronic myeloid leukemia.

PMID 24236021 2013 Ponatinib is a pan-BCR-ABL kinase inhibitor: MD simulations and SIE study.

PMID 11861307 2002 Ph(+) acute lymphoblastic leukemia resistant to the tyrosine kinase inhibitor STI571 has a unique BCR-ABL gene mutation.

PMID 12399961 2002 Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy.

PMID 11853795 2002 BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study.

PMID 15194504 2004 The two major imatinib resistance mutations E255K and T315I enhance the activity of BCR/ABL fusion kinase.

PMID 18757400 2008 BCR/ABL and other kinases from chronic myeloproliferative disorders stimulate single-strand annealing, an unfaithful DNA double-strand break repair.

PMID 19264234 2009 Concomitant t(3;3)(q21;q26), trisomy 19, and E255V mutation associated with imatinib mesylate resistance in chronic myelogenous leukemia.

PMID 19164531 2009 Conformational disturbance in Abl kinase upon mutation and deregulation.

PMID 11569495 2001 Roots of clinical resistance to STI-571 cancer therapy.

PMID 12783380 2003 Mutations in the ABL kinase domain pre-exist the onset of imatinib treatment.

PMID 20010464 2009 Frequency of BCR-ABL gene mutations in Polish patients with chronic myeloid leukemia treated with imatinib: a final report of the MAPTEST study.

PMID 20702476 2010 This report describes a patient with Philadelphia-positive chronic myeloid leukaemia with e19a2 rearrangement, in whom E355G mutation had been acquired.

PMID 20367437 2010 Mutations in ABL kinase domain are associated with inferior progression-free survival.

PMID 21489624 2011 F317L BCR-ABL1 kinase domain mutation associated with a sustained major molecular response in a CML patient on dasatinib.

PMID 17114651 2006 Presence or the emergence of a F317L BCR-ABL mutation may be associated with resistance to dasatinib in Philadelphia chromosome-positive leukemia.

PMID 21605905 2011 Chronic myeloid leukemia patients with F317L BCR-ABL kinase domain mutation are resistant to dasatinib: is that true for all the patients?

PMID 18828913 2008 P-loop mutations and novel therapeutic approaches for imatinib failures in chronic myeloid leukemia.

PMID 25152116 2014 [Correlation between point mutation in ABL kinase and clinical outcome of chronic myeloid leukemia patients].

PMID 19768693 2010 Dynamic change of T315I BCR-ABL kinase domain mutation in Korean chronic myeloid leukaemia patients during treatment with Abl tyrosine kinase inhibitors.

PMID 23575252 2013 Detection of ABL1 kinase mutations in Philadelphia-positive patients exhibiting an inadequate molecular response using restriction fragment mass polymorphism and its clinical significance: a single-center experience in Korea.

PMID 21505103 2011 The ABL switch control inhibitor DCC-2036 is active against the chronic myeloid leukemia mutant BCR-ABLT315I and exhibits a narrow resistance profile.

PMID 22870928 2013 Early detection and quantification of mutations in the tyrosine kinase domain of chimerical BCR-ABL1 gene combining high-resolution melting analysis and mutant-allele specific quantitative polymerase chain reaction.

PMID 19811824 2010 Major molecular response achieved with dasatinib in a CML patient with F317L BCR-ABL kinase domain mutation.

PMID 21489624 2011 F317L BCR-ABL1 kinase domain mutation associated with a sustained major molecular response in a CML patient on dasatinib.

PMID 17008892 2006 A novel Bcr-Abl splice isoform is associated with the L248V mutation in CML patients with acquired resistance to imatinib.

PMID 21221851 2012 BCR-ABL isoforms associated with intrinsic or acquired resistance to imatinib: more heterogeneous than just ABL kinase domain point mutations?

PMID 18354488 2008 Characterization of BCR-ABL deletion mutants from patients with chronic myeloid leukemia.

PMID 18223278 2008 Dynamics of BCR-ABL mutated clones prior to hematologic or cytogenetic resistance to imatinib.

PMID 12576318 2003 Several Bcr-Abl kinase domain mutants associated with imatinib mesylate resistance remain sensitive to imatinib.

PMID 21888027 2011 Analysis of ABL kinase domain mutations conferring resistance to tyrosine kinase inhibitors in chronic myeloid leukemia cases from India.

PMID 20557306 2010 Rapid clonal shifts in response to kinase inhibitor therapy in chronic myelogenous leukemia are identified by quantitation mutation assays.

PMID 12130516 2002 Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and they can pre-exist to the onset of treatment.

PMID 20607847 2010 Associations between imatinib resistance conferring mutations and Philadelphia positive clonal cytogenetic evolution in CML.

PMID 15381060 2004 Evidence of ABL-kinase domain mutations in highly purified primitive stem cell populations of patients with chronic myelogenous leukemia.

PMID 17189410 2006 We conclude that (a) amino acid substitutions at seven residues (M244V, G250E, Y253F/H, E255K/V, T315I, M351T, and F359V) account for 85% of all resistance-associated mutations; (b) the search for mutations is important both in case of imatinib failure and in case of loss of response at the hematologic or cytogenetic level; (c) advanced-phase chronic myeloid leukemia and Ph+ ALL patients have a higher likelihood of developing imatinib-resistant mutations; and (d) the presence of either P-loop or T315I mutations in imatinib-treated patients should warn the clinician to reconsider the therapeutic strategy.

PMID 19557636 2009 New mutations detected by denaturing high performance liquid chromatography during screening of exon 6 bcr-abl mutations in patients with chronic myeloid leukemia treated with tyrosine kinase inhibitors.

PMID 23355941 2012 Contribution of BCR-ABL kinase domain mutations to imatinib mesylate resistance in Philadelphia chromosome positive Malaysian chronic myeloid leukemia patients.

PMID 15256422 2004 Inhibition of wild-type and mutant Bcr-Abl by AP23464, a potent ATP-based oncogenic protein kinase inhibitor: implications for CML.

PMID 24109527 2013 This scenario of Q252H-associated TKI resistance with rapid BC transformation has not been previously documented in e19a2 BCR-ABL1 CML.

PMID 21762985 2011 Low-level Bcr-Abl mutations are very rare in chronic myeloid leukemia patients who are in major molecular response on first-line nilotinib.

PMID 20512393 2011 The mutation status of 65 patients with resistant CML was evaluated, and the T315I was detected in 3/65 (4.6%).

PMID 22306673 2012 Rapid quantitative detection of the T315I mutation in patients with chronic myelogenous leukemia.

PMID 20537386 2010 BCR-ABL tyrosine kinase inhibitors in the treatment of Philadelphia chromosome positive chronic myeloid leukemia: a review.

PMID 21872826 2011 Frequent EVI1 translocations in myeloid blast crisis CML that evolves through tyrosine kinase inhibitors.

PMID 20963643 2010 We report a chronic-phase CML patient undergoing IM treatment, who showed the overt existence of the T315I mutation after 15 months.

PMID 23540562 2013 In the present study, an allele-specific oligonucleotide reverse transcriptase polymerase chain reaction assay was used to detect T315I mutation in a cohort of 60 imatinib-resistant CML patients.

PMID 19652056 2009 Impact of baseline BCR-ABL mutations on response to nilotinib in patients with chronic myeloid leukemia in chronic phase.

PMID 14559829 2003 Inhibition of wild-type and mutant Bcr-Abl by pyrido-pyrimidine-type small molecule kinase inhibitors.

PMID 20697894 2011 Characteristics of BCR-ABL kinase domain point mutations in Chinese imatinib-resistant chronic myeloid leukemia patients.

PMID 19466505 2009 High-resolution melting analysis for a reliable and two-step scanning of mutations in the tyrosine kinase domain of the chimerical bcr-abl gene.

rs1060499548 in ABL1 gene and Pneumothorax PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs2313532 in ABL1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2313532 in ABL1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1060499548 in ABL1 gene and Short stature PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Thin lips PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Thin skin PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Unilateral ptosis PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1060499548 in ABL1 gene and Upward slant of palpebral fissure PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs2855167 in ABL1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.