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ABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1)

Written1997-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2001-04Ali G Turhan
Translational Research - Cell Therapy, Laboratory, Institut Gustave Roussy, INSERM U. 362, 1 - 39, rue Camille Desmoulins, 94805 Villejuif Cedex, France
Updated2008-08Ali G Turhan
Pole de Biologie-Sante - 40 avenue du Recteur Pineau - 86022 Poitiers Cedex, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesABL
v-abl Abelson murine leukemia viral oncogene homolog 1
c-abl oncogene 1, receptor tyrosine kinase
c-abl oncogene 1, non-receptor tyrosine kinase
Alias_symbol (synonym)JTK7
c-ABL
p150
Other alias
HGNC (Hugo) ABL1
LocusID (NCBI) 25
Atlas_Id 1
Location 9q34.12  [Link to chromosome band 9q34]
Location_base_pair Starts at 130835255 and ends at 130887675 bp from pter ( according to hg19-Feb_2009)  [Mapping ABL1.png]
Local_order CAN is more telomeric, TAN1 even more in 9q34.3.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABL1 (9q34.12) / ABL1 (9q34.12)ABL1 (9q34.12) / ADAMTSL2 (9q34.2)ABL1 (9q34.12) / ANXA4 (2p13.3)
ABL1 (9q34.12) / BCR (22q11.23)ABL1 (9q34.12) / CBFB (16q22.1)ABL1 (9q34.12) / DDX27 (20q13.13)
ABL1 (9q34.12) / EML1 (14q32.2)ABL1 (9q34.12) / ETV6 (12p13.2)ABL1 (9q34.12) / EXOSC2 (9q34.12)
ABL1 (9q34.12) / KYAT1 (9q34.11)ABL1 (9q34.12) / NRXN2 (11q13.1)ABL1 (9q34.12) / NUP214 (9q34.13)
ABL1 (9q34.12) / PRRC2B (9q34.13)ABL1 (9q34.12) / RNF220 (1p34.1)ABL1 (9q34.12) / TIMM8A (Xq22.1)
AES (19p13.3) / ABL1 (9q34.12)ARHGEF18 (19p13.2) / ABL1 (9q34.12)BCR (22q11.23) / ABL1 (9q34.12)
BCRP3 (22q11.23) / ABL1 (9q34.12)CDC73 (1q31.2) / ABL1 (9q34.12)CENPC (4q13.2) / ABL1 (9q34.12)
EML1 (14q32.2) / ABL1 (9q34.12)ETV6 (12p13.2) / ABL1 (9q34.12)FAM184B (4p15.32) / ABL1 (9q34.12)
FGFR4 (5q35.2) / ABL1 (9q34.12)FOXP1 (3p13) / ABL1 (9q34.12)INPP5D (2q37.1) / ABL1 (9q34.12)
LSM14A (19q13.11) / ABL1 (9q34.12)NRXN2 (11q13.1) / ABL1 (9q34.12)NUP214 (9q34.13) / ABL1 (9q34.12)
RANBP2 (2q12.3) / ABL1 (9q34.12)RANBP2 (2q13) / ABL1 (9q34.12)RCSD1 (1q24.2) / ABL1 (9q34.12)
SFPQ (16q24.1) / ABL1 (9q34.12)SFPQ (1p34.3) / ABL1 (9q34.12)SNX2 (5q23.2) / ABL1 (9q34.12)
ZMIZ1 (10q22.3) / ABL1 (9q34.12)

DNA/RNA

 
  DNA diagram
Description 12 exons; 230 kb.
Transcription Alternate splicing: 1a and 1b are 5' alternative exons; mRNA of 6 and 7 kb (with 1a and 1b respectively), giving rise to 2 protein of 145 kDa.

Protein

 
  Protein diagram
Description 1130-1143 amino acids; 4 domains: of which are SH (SRC homology) domains; NH2-term -- domain 1: SH3 (where can bind the binding protein BP1, to inhibit SH1 activation) and SH2 (with high affinity towards BCR first exon) -- domain 2: SH1 (with a self-phosphorylable tyrosine) -- 'domain' 3: nuclear localization domain (DNA binding, but not during mitosis) -- domain 4: actin binding (cytoskeleton) --COOH-term; note: 1b (but not the 1a alternative) myristylable allowing anchorage to the membrane.
Normal ABL has a tri-dimensional structure which is tightly preserved in a closed, inactive conformation order to prevent oncogenic activation. The maintenance of this inactive conformation is possible by:
  • 1- the "latching" of the myristilated NH2-terminal sequence which is directly linked to a myristilation recognition sequence on the c-lobe of the SH1 kinase domain;
  • 2-The close contact between SH3 and SH2 domain
  • 3- The interactions between SH3 domain and the C-lobe of the kinase domain. These interactions clamp the structure and prevent the kinase to switch to an active conformation, a process which requires the phosphorylation of Tyr 412 residue and the "unlatching" of the myristoyl group from the C-Lobe of the kinase domain. The attachment of proline-rich SH2 and SH3 ligands leads to the complete switch of the protein to an open, active conformation of the kinase. The NH2-terminal myristilation (autoregulatory role) is deleted during the t(9;22) translocation.
  • Expression Ubiquitously expressed, c-ABL K/O phenotype is lethal.
    Localisation c-abl is localized to the nucleus, plasma membrane and actin cytoskeleton.
    Function c-ABL exhibit a permanent nuclear and cytoplasmic shuttling activity, driven by 3 nuclear localisation signals (NLS) and a single nuclear export signal (NES) close to the C-terminal region. Recent data suggest that nuclear and cytoplasmic ABL may have different functions.
  • 1- Nuclear c-ABL plays a major role in the regulation of cell death after DNA damage. All DNA damage inducing agents activate nuclear c-ABL kinase in a ATM-dependent manner and in the presence of the p53-homolog p73 protein. The latter is physically associated with c-ABL after DNA damage through the SH3 domain of c-ABL. DNA damage also activates simultanously p53 pathway, leading to the activation of Rb which induces growth arrest and protects cells from apoptosis. The exacts mechanisms of apoptosis induced by c-ABL are unknown. The translocation of cytoplasmic c-ABL to the nucleus has been shown to be due to its release from 14-3-3 proteins to which c-ABL is associated in the cytoplasm. JNK-dependent phosphorylation of 14-3-3 upon an oxidative stress, allows this release process and translocation of c-ABL to the nucleus. The oncoprotein MUC has also been shown to block nuclear translocation of c-ABL after apoptotic stimuli.The nuclear entrapment of BCR-ABL has also been shown to induce apoptosis in leukemic cells.
  • 2- Cytoplasmic c-ABL : possible function in adhesion signalling as an efflux of c-ABL from nucleus to the cytoplasm is found in fibroblasts after adhesion. Regulation: Experiments using purified c-abl in vitro allowed to elucidate the mechanism of c-abl regulation which is mediated by an intrinsic property of the molecule. This is the 80 amino-acid N terminal "cap" of the protein is able and sufficient its tyrosine kinase activity and the loss of this cap portion activates the oncogenic potential of c-abl. From the structural point of view, this inhibition is generated by the docking of the myristilated N-terminal of c-abl into the kinase domain. The current view is the fact that c-abl localized in the nucleus, plasma membrane and the actin cytoskeleton undergo different types of regulation. In the membrane-associated c-abl, the myristilated N-terminal end of membrane form can not interact with the kinase c-lobe and it has been suggested that phosphadytilinositol 4-5 bi-phosphate could play an inhibitory role. The autoregulatory mechanism remains functional in the cytoplasmic and nuclear form of c-abl. The latter is also negatively regulated by Rb in the G-phase of the cell cycle. Beside the structural auto-inhibition, several cellular proteins have been shown to inhibit c-ABL: Pag (or Peroxiredoxin-I), Rb and F(actin). Regulation of ABL could therefore be due to a dual mechanism, involving an autoinhibition in the presence of co-inhibitors, which can be active on normal ABL-kinase activity but inactive against increased TK activity of BCR-ABL proteins.
    Recent data suggest that pharmacological inhibition of endogenous ABL could lead to a genetic instability, potentially by inhibition of mismatch repair mechanisms. Long-term inhibition of c-ABL by TKI therapies could therefore be responsible of the occurrence of a mutator phenotypes.
    Activation of ABL can also be detected in solid malignant tumors (lung and breast). Similarly , it has been shown that tumor suppression induced by Ephrin receptor EphB4 requires the presence of an active ABL and phosphorylation of the downstream target CRK by ABL.
  • Homology SRC homology; like SRC, ABL is one of the tyrosine kinases which are not membrane receptors.

    Implicated in

    Note
      
    Entity t(9;12)(q34;p12)/acute lymphoblastic leukemia (ALL) --> ETV6-ABL2
    Disease Common ALL; yet poorly known.
    Hybrid/Mutated Gene 5' ETV6/TEL from 12p12 - 3' ABL from 9q34.
    Abnormal Protein NH2-term Helix Loop Helix from ETV6(TEL) fused to Tyr Kinase from ABL COOH-term; localised in the cytoskeleton.
    Oncogenesis Forms HLH-dependent oligomers, which may be critical for Tyr kinase activation; oncogenesis may be comparable to that induced by BCR/ABL.
      
      
    Entity t(9;22)(q34;q11)/chronic myelogenous leukemia (CML) --> BCR/ABL2
    Disease All CML have a t(9;22), at least at the molecular level (BCR/ABL); phenotype and stem cell origin: multipotent progenitor: t(9;22) is found in all myeloid and B- lineage progenitors.
    Prognosis The prognosis of CML has changed radically over the last 10 years, due to the development of novel drugs able to target the enhanced tyrosine kinase activity of BCR-ABL. The first of these therapies is Imatinib Mesylate (Gleevec) which has become the first line therapy for all patients with CML (See CML). In the first cohort trial of patients treated with Imatinib mesylate, the rates of complete cytogenetics responses (CCR) were exceptionally high (82 %) as compared to standard IFN-alpha - ARA-C therapy. At the most recent 6-year update, the overall survival is 90 % and most interestingly, the rates of progression towards more aggressive phases have been found to be progressively decreasing in all patients with major molecular responses (MMR). (For definition of MMR see CML). In IM-resistant or relapsing Ph1+ CML patients, second generation tyrosine kinase inhibitor (TKI) therapies such as Dasatinib (a dual SRC and ABL inhibitor) and Nilotinib have also recently become available.
    Cytogenetics Anomalies additional to the t(9;22) may be found either at diagnosis or during course of the disease, or at the time of acute transformation; mainly: +der(22), +8, i(17q), +19; +21, -Y, -7, -17, +17; variant translocations: t(9;22;V) and apparent t(V;22) or t(9;V), where V is a variable chromosome, karyotypes with apparently normal chromosomes 9 and 22, may be found.
    Hybrid/Mutated Gene see below
     
    Probe 1132H12 on a case of CML with t(9/22). Note the splitting of the probe, evident also on interphase nuclei - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
    Abnormal Protein see below
    Oncogenesis see below
      
      
    Entity t(9;22)(q34;q11)/ALL --> BCR/ABL2
    Disease Most often CD 10+ B-ALL; frequent CNS involvement.
    Prognosis The prognosis of Ph1+ ALL has changed since the introduction of tyrosine-kinase inhibitor therapies, especially imatinib mesylate which is currently used as a first line therapy associated with either high dose chemotherapy or classical ALL-type induction (steroids+ vincristine) and maintenance. Allogeneic stem cell transplantation is indicated in Ph1+ ALL patients relapsing after Imatinib-based regimens. In IM-resistant or relapsing Ph1+ ALL patients, second generation tyrosine kinase inhibitor (TKI) therapies such as Dasatinib (a dual SRC and ABL inhibitor) and Nilotinib have also recently become available.
    Cytogenetics The chromosome anomaly t(9;22) disappear during remission, in contrast with BC-CML cases (CML in blast crisis); additional anomalies: +der(22), -7, del(7q) most often, +8, but not an i(17q), in contrast with CML and AML cases; complex karyotypes, often hyperploid; variants and complex translocations may be found as in CML.
    Hybrid/Mutated Gene see below. In Both CML and Ph1+ ALL, detection and quantification of p210 BCR-ABL and p190 BCR-ABL have become the cornerstones of monitoring targeted therapies.
    Abnormal Protein see below
    Oncogenesis see below
      
      
    Entity t(9;22)(q34;q11)/acute myeloid leukemia (AML) --> BCR/ABL2
    Disease AML mostly M1 or M2 AML.
    Prognosis High rates of hematologic , cytogenetic and molecular responses have been reported in de novo PH1+ AML, which is a rare entity.
    Cytogenetics The chromosome anomaly t(9;22) disappear during remission, in contrast with BC-CML cases (CML in blast crisis); additional anomalies: similar to what is found in CML.
    Hybrid/Mutated Gene see below
    Abnormal Protein see below
    Oncogenesis see below
      
    Hybrid/Mutated Gene BCR/ABL the crucial event lies on der(22), id est 5' BCR - 3' ABL hybrid gene is the crucial one, while ABL/BCR may or may not be expressed; breakpoint in ABL is variable over a region of 200 kb, often between the two alternative exons 1b and 1a, sometimes 5' of 1b or 3' of 1a, but always 5' of exon 2; breakpoint in BCR is either:
  • 1- in a region called M-bcr (for major breakpoint cluster region), a cluster of 5.8 kb, between exons 12 and 16, also called b1 to b5 of M-bcr; most breakpoints being either between b2 and b3, or between b3 and b4; transcript is 8.5 kb long; this results in a 210 KDa chimeric protein (P210); this is found in (most cases of) CML, and in half cases of ALL or AML.
  • 2- in a 35 kb region between exons 1 and 2, called m-bcr (minor breakpoint cluster region), -> 7 kb mRNA, resulting in a 190 KDa protein (P190); this is found in half of the cases of ALL or AML.
  • 3- A breakpoint in the exon 19 of BCR (designed as micro-bcr) with fusion to abl sequences (a2) has been in neutrophilic CML, with presence of a larger protein (P230).
  • Abnormal Protein BCR/ABL P210 comprises the first 902 or 927 amino acids from BCR, P190 only the 427 N-term from BCR; BCR/ABL has a cytoplasmic localization, in contrast with ABL, mostly nuclear.
    Oncogenesis BCR/ABL has a cytoplasmic localization role and all three BCR-ABL fusion proteins have been shown to exhibit oncogenic potential. All three hybrid proteins have increased protein kinase activity compared to ABL: 3BP1 (binding protein) binds normal ABL on SH3 domain,which prevents SH1 activation; with BCR/ABL, the first (N-terminal) exon of BCR binds to SH2, hidding SH3 which, as a consequence, cannot be bound to 3BP1; thereof, SH1 is activated; oncogenesis
    1- proliferation is induced through activation by BCR/ABL of RAS signal transduction pathway, PI3-K (phosphatidyl inositol 3' kinase) pathway, and MYC;
    2- BCR/ABL inhibits apoptosis (via activation of STAT5 and BclXL)
    3- BCR/ABL provokes cell adhesive abnormalities (via CRK-L, FAK) as well as abnormalities of cell migration (via CXCR-4 whose expression is downregulated in CML cells expressing high levels of BCR-ABL).
    In experimental settings CD44 has been shown to play a major role in homing of BCR-ABL expressing cells.
    4- BCR-ABL induces a major genetic instability: Molecular pathways involved in this phenomenon have recently been elucidated (See BCR-ABL).
    5-BCR-ABL and endogenous ABL have been shown to be the target of miR 203 which is heavily methylated in CML cell lines expressing BCR-ABL. Restoration of miR 203 expression leads to reduction of BCR-ABL levels, suggesting a potential use of this strategy for therapeutic purposes.
      

    Breakpoints

     

    Bibliography

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    Citation

    This paper should be referenced as such :
    Turhan, AG
    ABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1)
    Atlas Genet Cytogenet Oncol Haematol. 2009;13(7):462-466.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/ABLID1.html
    History of this paper:
    Huret, JL. ABL (c-abl oncogene, receptor tyrosine kinase). Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):40-42.
    http://documents.irevues.inist.fr/bitstream/handle/2042/32041/10-1997-ABLID10.pdf
    Turhan, AG. ABL1 (v-abl Abelson murine leukemia viral oncogene homolog 1). Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):162-165.
    http://documents.irevues.inist.fr/bitstream/handle/2042/37745/04-2001-ABL.pdf


    Other Leukemias implicated (Data extracted from papers in the Atlas) [ 33 ]
      8p11 myeloproliferative syndrome (FGFR1)
    Atypical Chronic Myeloid Leukemia (aCML)
    NUP214/ABL1 fusion gene on amplified episomes
    Chronic myelogenous leukaemia (CML)
    del(9p) in Acute Lymphoblastic Leukemia
    der(9)t(1;9)(q11-12;q34)
    dic(7;9)(p11-12;p12-13) PAX5/LOC392027
    dic(9;20)(p11-13;q11) PAX5/Various
    i(17q) solely in myeloid malignancies
    i(9q) in ALL
    Mixed phenotype acute leukemia (MPAL)
    Myeloid/Lymphoid neoplasms with abnormalities of PDGFRB
    r(8)
    12p rearrangements in CLL
    t(1;9)(p34;q34) SFPQ/ABL1
    t(1;9)(q24;q34) RCSD1/ABL1
    t(1;12)(q25;p13) ETV6/ABL2
    t(2;9)(q12;q34) RANBP2/ABL1
    t(2;9)(q37;q34) INPP5D-ABL1
    t(3;9)(p13;q34.1) FOXP1/ABL1
    t(4;11)(q35;q23) KMT2A/SORBS2
    t(4;22)(q12;q11) BCR/PDGFRA
    t(5;9)(q32;p24) KANK1/PDGFRB
    t(8;22)(p11;q11) BCR/FGFR1
    t(9;10)(q34;q22) ZMIZ1/ABL1
    t(9;14)(q33;q32) IGH/LHX2
    t(9;14)(q34;q32) EML1/ABL1
    t(9;22)(q34;q11) BCR/ABL1 in ALL
    t(9;22)(q34;q11) BCR/ABL1 in AML
    t(9;22)(q34;q11) BCR/ABL1 in CML
    t(9;22)(q34;q11) BCR/ABL1 in treatment related leukemia
    t(14;22)(q32;q11) IGH/IGL
    t(9;12)(q34;p13) ETV6/ABL1


    Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
      Breast tumors : an overview
    Soft tissue tumors: an overview


    External links

    Nomenclature
    HGNC (Hugo)ABL1   76
    LRG (Locus Reference Genomic)LRG_769
    Cards
    AtlasABLID1
    Entrez_Gene (NCBI)ABL1  25  ABL proto-oncogene 1, non-receptor tyrosine kinase
    AliasesABL; JTK7; bcr/abl; c-ABL; 
    c-ABL1; p150; v-abl
    GeneCards (Weizmann)ABL1
    Ensembl hg19 (Hinxton)ENSG00000097007 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000097007 [Gene_View]  chr9:130835255-130887675 [Contig_View]  ABL1 [Vega]
    ICGC DataPortalENSG00000097007
    TCGA cBioPortalABL1
    AceView (NCBI)ABL1
    Genatlas (Paris)ABL1
    WikiGenes25
    SOURCE (Princeton)ABL1
    Genetics Home Reference (NIH)ABL1
    Genomic and cartography
    GoldenPath hg38 (UCSC)ABL1  -     chr9:130835255-130887675 +  9q34.12   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)ABL1  -     9q34.12   [Description]    (hg19-Feb_2009)
    EnsemblABL1 - 9q34.12 [CytoView hg19]  ABL1 - 9q34.12 [CytoView hg38]
    Mapping of homologs : NCBIABL1 [Mapview hg19]  ABL1 [Mapview hg38]
    OMIM189980   
    Gene and transcription
    Genbank (Entrez)AA524892 AB209456 AB209642 AI458416 AK294983
    RefSeq transcript (Entrez)NM_005157 NM_007313
    RefSeq genomic (Entrez)
    Consensus coding sequences : CCDS (NCBI)ABL1
    Cluster EST : UnigeneHs.431048 [ NCBI ]
    CGAP (NCI)Hs.431048
    Alternative Splicing GalleryENSG00000097007
    Gene ExpressionABL1 [ NCBI-GEO ]   ABL1 [ EBI - ARRAY_EXPRESS ]   ABL1 [ SEEK ]   ABL1 [ MEM ]
    Gene Expression Viewer (FireBrowse)ABL1 [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)25
    GTEX Portal (Tissue expression)ABL1
    Human Protein AtlasENSG00000097007-ABL1 [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtP00519   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtP00519  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProP00519
    Splice isoforms : SwissVarP00519
    Catalytic activity : Enzyme2.7.10.2 [ Enzyme-Expasy ]   2.7.10.22.7.10.2 [ IntEnz-EBI ]   2.7.10.2 [ BRENDA ]   2.7.10.2 [ KEGG ]   
    PhosPhoSitePlusP00519
    Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    SH2 (PS50001)    SH3 (PS50002)   
    Domains : Interpro (EBI)ABL1    F-actin_binding    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser-Thr/Tyr_kinase_cat_dom    SH2    SH3_domain    Tyr_kinase_AS    Tyr_kinase_cat_dom   
    Domain families : Pfam (Sanger)F_actin_bind (PF08919)    Pkinase_Tyr (PF07714)    SH2 (PF00017)    SH3_1 (PF00018)   
    Domain families : Pfam (NCBI)pfam08919    pfam07714    pfam00017    pfam00018   
    Domain families : Smart (EMBL)FABD (SM00808)  SH2 (SM00252)  SH3 (SM00326)  TyrKc (SM00219)  
    Conserved Domain (NCBI)ABL1
    DMDM Disease mutations25
    Blocks (Seattle)ABL1
    PDB (SRS)###############################################################################################################################################################################################################################################################   
    PDB (PDBSum)###############################################################################################################################################################################################################################################################   
    PDB (IMB)###############################################################################################################################################################################################################################################################   
    PDB (RSDB)###############################################################################################################################################################################################################################################################   
    Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
    SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
    CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
    SuperfamilyP00519
    Human Protein Atlas [tissue]ENSG00000097007-ABL1 [tissue]
    Peptide AtlasP00519
    HPRD01809
    IPIIPI00216969   IPI00221171   IPI01015130   IPI01010675   IPI00385144   IPI00642669   
    Protein Interaction databases
    DIP (DOE-UCLA)P00519
    IntAct (EBI)P00519
    FunCoupENSG00000097007
    BioGRIDABL1
    STRING (EMBL)ABL1
    ZODIACABL1
    Ontologies - Pathways
    QuickGOP00519
    Ontology : AmiGOmitotic cell cycle  magnesium ion binding  phosphotyrosine binding  neural tube closure  B-1 B cell homeostasis  positive regulation of protein phosphorylation  B cell proliferation involved in immune response  transitional one stage B cell differentiation  DNA binding  actin monomer binding  nicotinate-nucleotide adenylyltransferase activity  protein kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  non-membrane spanning protein tyrosine kinase activity  protein kinase C binding  receptor binding  protein binding  ATP binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytoplasm  cytoplasm  mitochondrion  cytosol  cytosol  mismatch repair  regulation of transcription, DNA-templated  cellular protein modification process  autophagy  cellular response to DNA damage stimulus  DNA damage induced protein phosphorylation  response to oxidative stress  cell cycle arrest  epidermal growth factor receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  protein C-terminus binding  intrinsic apoptotic signaling pathway in response to DNA damage  post-embryonic development  regulation of autophagy  actin cytoskeleton  nuclear body  SH3 domain binding  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  syntaxin binding  cerebellum morphogenesis  negative regulation of cell-cell adhesion  microspike assembly  actin cytoskeleton organization  regulation of endocytosis  manganese ion binding  regulation of cell adhesion  dendrite  negative regulation of BMP signaling pathway  regulation of axon extension  regulation of microtubule polymerization  extrinsic component of cytoplasmic side of plasma membrane  cell leading edge  nuclear membrane  regulation of actin cytoskeleton organization  positive regulation of osteoblast proliferation  substrate adhesion-dependent cell spreading  cellular response to oxidative stress  platelet-derived growth factor receptor-beta signaling pathway  peptidyl-tyrosine autophosphorylation  peptidyl-tyrosine autophosphorylation  Fc-gamma receptor signaling pathway involved in phagocytosis  regulation of cell proliferation  SH2 domain binding  signal transduction in response to DNA damage  neuronal cell body  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  innate immune response  establishment of protein localization  negative regulation of mitotic cell cycle  positive regulation of mitotic cell cycle  alpha-beta T cell differentiation  protein autophosphorylation  ephrin receptor binding  perinuclear region of cytoplasm  spleen development  thymus development  collateral sprouting  positive regulation of peptidyl-tyrosine phosphorylation  activated T cell proliferation  B cell receptor signaling pathway  neuromuscular process controlling balance  actin filament binding  mitogen-activated protein kinase binding  positive regulation of muscle cell differentiation  positive regulation of release of sequestered calcium ion into cytosol  positive regulation of oxidoreductase activity  negative regulation of ubiquitin-protein transferase activity  negative regulation of ubiquitin-protein transferase activity  mitochondrial depolarization  Bergmann glial cell differentiation  neuroepithelial cell differentiation  proline-rich region binding  proline-rich region binding  cellular response to hydrogen peroxide  negative regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  cellular response to lipopolysaccharide  negative regulation of protein serine/threonine kinase activity  cardiovascular system development  actin filament branching  postsynapse  positive regulation of interleukin-2 secretion  negative regulation of phospholipase C activity  positive regulation of neuron death  positive regulation of interferon-gamma secretion  regulation of extracellular matrix organization  cellular response to dopamine  positive regulation of microtubule binding  positive regulation of actin filament binding  activation of protein kinase C activity  positive regulation of Wnt signaling pathway, planar cell polarity pathway  regulation of cell motility  regulation of actin cytoskeleton reorganization  negative regulation of endothelial cell apoptotic process  negative regulation of cellular senescence  regulation of response to DNA damage stimulus  
    Ontology : EGO-EBImitotic cell cycle  magnesium ion binding  phosphotyrosine binding  neural tube closure  B-1 B cell homeostasis  positive regulation of protein phosphorylation  B cell proliferation involved in immune response  transitional one stage B cell differentiation  DNA binding  actin monomer binding  nicotinate-nucleotide adenylyltransferase activity  protein kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  protein tyrosine kinase activity  non-membrane spanning protein tyrosine kinase activity  protein kinase C binding  receptor binding  protein binding  ATP binding  nucleus  nucleus  nucleus  nucleoplasm  nucleoplasm  nucleolus  cytoplasm  cytoplasm  mitochondrion  cytosol  cytosol  mismatch repair  regulation of transcription, DNA-templated  cellular protein modification process  autophagy  cellular response to DNA damage stimulus  DNA damage induced protein phosphorylation  response to oxidative stress  cell cycle arrest  epidermal growth factor receptor signaling pathway  positive regulation of cytosolic calcium ion concentration  protein C-terminus binding  intrinsic apoptotic signaling pathway in response to DNA damage  post-embryonic development  regulation of autophagy  actin cytoskeleton  nuclear body  SH3 domain binding  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  peptidyl-tyrosine phosphorylation  syntaxin binding  cerebellum morphogenesis  negative regulation of cell-cell adhesion  microspike assembly  actin cytoskeleton organization  regulation of endocytosis  manganese ion binding  regulation of cell adhesion  dendrite  negative regulation of BMP signaling pathway  regulation of axon extension  regulation of microtubule polymerization  extrinsic component of cytoplasmic side of plasma membrane  cell leading edge  nuclear membrane  regulation of actin cytoskeleton organization  positive regulation of osteoblast proliferation  substrate adhesion-dependent cell spreading  cellular response to oxidative stress  platelet-derived growth factor receptor-beta signaling pathway  peptidyl-tyrosine autophosphorylation  peptidyl-tyrosine autophosphorylation  Fc-gamma receptor signaling pathway involved in phagocytosis  regulation of cell proliferation  SH2 domain binding  signal transduction in response to DNA damage  neuronal cell body  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  negative regulation of I-kappaB kinase/NF-kappaB signaling  protein complex  innate immune response  establishment of protein localization  negative regulation of mitotic cell cycle  positive regulation of mitotic cell cycle  alpha-beta T cell differentiation  protein autophosphorylation  ephrin receptor binding  perinuclear region of cytoplasm  spleen development  thymus development  collateral sprouting  positive regulation of peptidyl-tyrosine phosphorylation  activated T cell proliferation  B cell receptor signaling pathway  neuromuscular process controlling balance  actin filament binding  mitogen-activated protein kinase binding  positive regulation of muscle cell differentiation  positive regulation of release of sequestered calcium ion into cytosol  positive regulation of oxidoreductase activity  negative regulation of ubiquitin-protein transferase activity  negative regulation of ubiquitin-protein transferase activity  mitochondrial depolarization  Bergmann glial cell differentiation  neuroepithelial cell differentiation  proline-rich region binding  proline-rich region binding  cellular response to hydrogen peroxide  negative regulation of ERK1 and ERK2 cascade  positive regulation of ERK1 and ERK2 cascade  cellular response to lipopolysaccharide  negative regulation of protein serine/threonine kinase activity  cardiovascular system development  actin filament branching  postsynapse  positive regulation of interleukin-2 secretion  negative regulation of phospholipase C activity  positive regulation of neuron death  positive regulation of interferon-gamma secretion  regulation of extracellular matrix organization  cellular response to dopamine  positive regulation of microtubule binding  positive regulation of actin filament binding  activation of protein kinase C activity  positive regulation of Wnt signaling pathway, planar cell polarity pathway  regulation of cell motility  regulation of actin cytoskeleton reorganization  negative regulation of endothelial cell apoptotic process  negative regulation of cellular senescence  regulation of response to DNA damage stimulus  
    Pathways : BIOCARTACell Cycle: G1/S Check Point [Genes]    Tumor Suppressor Arf Inhibits Ribosomal Biogenesis [Genes]    ATM Signaling Pathway [Genes]    Lissencephaly gene (LIS1) in neuronal migration and development [Genes]   
    Pathways : KEGG   
    REACTOMEP00519 [protein]
    REACTOME PathwaysR-HSA-983231 [pathway]   
    NDEx NetworkABL1
    Atlas of Cancer Signalling NetworkABL1
    Wikipedia pathwaysABL1
    Orthology - Evolution
    OrthoDB25
    GeneTree (enSembl)ENSG00000097007
    Phylogenetic Trees/Animal Genes : TreeFamABL1
    HOVERGENP00519
    HOGENOMP00519
    Homologs : HomoloGeneABL1
    Homology/Alignments : Family Browser (UCSC)ABL1
    Gene fusions - Rearrangements
    Fusion : MitelmanABL1/ADAMTSL2 [9q34.12/9q34.2]  
    Fusion : MitelmanABL1/ANXA4 [9q34.12/2p13.3]  [t(2;9)(p13;q34)]  
    Fusion : MitelmanABL1/BCR [9q34.12/22q11.23]  [t(9;22)(q34;q11)]  
    Fusion : MitelmanABL1/CCBL1 [9q34.12/9q34.11]  [t(9;9)(q34;q34)]  
    Fusion : MitelmanABL1/DDX27 [9q34.12/20q13.13]  [t(9;20)(q34;q13)]  
    Fusion : MitelmanABL1/EXOSC2 [9q34.12/9q34.12]  [t(9;9)(q34;q34)]  
    Fusion : MitelmanBCR/ABL1 [22q11.23/9q34.12]  [+der(22)t(9;22)(q34;q11)]  [der(9)del(9)(q34q34)t(9;22)(q34;q11)]  
    [der(9)ins(9;9)(q?;q34)t(9;22)(q34;q11)]  [der(9)t(9;22)(q34;q11)]  [ins(22;9)(q11;q34q21)]  
    [ins(22;9)(q11;q34q34)]  [ins(9;22)(q34;q11q11)]  [t(10;9;22)(q25;q34;q11)]  [t(11;9;22)(q12;q34;q11)]  
    [t(1;9;22)(p34;q34;q11)]  [t(1;9;22)(p35;q34;q11)]  [t(1;9;22)(p36;q34;q11)]  [t(1;9;22)(q21;q34;q11)]  
    [t(1;9;22)(q24;q34;q11)]  [t(1;9;22)(q32;q34;q11)]  [t(1;9;22)(q42;q34;q11)]  [t(2;9;22)(p13;q34;q11)]  
    [t(2;9;22)(p21;q34;q11)]  [t(2;9;22)(q11;q34;q11)]  [t(2;9;22)(q37;q34;q11)]  [t(3;22)(p24;q11)]  
    [t(3;9;22)(p11;q34;q11)]  [t(3;9;22)(p14;q34;q11)]  [t(3;9;22)(p21;q34;q11)]  [t(3;9;22)(p22;q34;q11)]  
    [t(3;9;22)(p24;q34;q11)]  [t(3;9;22)(p25;q34;q11)]  [t(3;9;22)(q12;q34;q11)]  [t(3;9;22)(q21;q34;q11)]  
    [t(3;9;22)(q25;q34;q11)]  [t(3;9;22)(q26;q34;q11)]  [t(3;9;22)(q27;q34;q11)]  [t(4;9;22)(p11;q34;q11)]  
    [t(4;9;22)(p14;q34;q11)]  [t(4;9;22)(p16;q34;q11)]  [t(4;9;22)(q12;q34;q11)]  [t(4;9;22)(q13;q34;q11)]  
    [t(4;9;22)(q21;q34;q11)]  [t(4;9;22)(q25;q34;q11)]  [t(4;9;22)(q27;q34;q11)]  [t(4;9;22)(q31;q34;q11)]  
    [t(4;9;22)(q34;q34;q11)]  [t(5;9;22)(p13;q34;q11)]  [t(5;9;22)(p15;q34;q11)]  [t(5;9;22)(q13;q34;q11)]  
    [t(5;9;22)(q23;q34;q11)]  [t(5;9;22)(q31;q34;q11)]  [t(6;9;22)(p11;q34;q11)]  [t(6;9;22)(p21;q34;q11)]  
    [t(6;9;22)(p22;q34;q11)]  [t(6;9;22)(p23;q34;q11)]  [t(6;9;22)(p24;q34;q11)]  [t(6;9;22)(p25;q34;q11)]  
    [t(6;9;22)(q12;q34;q11)]  [t(6;9;22)(q21;q34;q11)]  [t(6;9;22)(q22;q34;q11)]  [t(7;9;22)(p12;q34;q11)]  
    [t(7;9;22)(p22;q34;q11)]  [t(7;9;22)(q11;q34;q11)]  [t(7;9;22)(q12;q34;q11)]  [t(7;9;22)(q22;q34;q11)]  
    [t(7;9;22)(q32;q34;q11)]  [t(7;9;22)(q35;q34;q11)]  [t(8;22)(q24;q11)]  [t(8;9;22)(p11;q34;q11)]  
    [t(8;9;22)(p12;q34;q11)]  [t(8;9;22)(p23;q34;q11)]  [t(8;9;22)(q21;q34;q11)]  [t(8;9;22)(q22;q34;q11)]  
    [t(9;10;22)(q34;q24;q11)]  [t(9;11;22)(q34;p15;q11)]  [t(9;11;22)(q34;q12;q11)]  [t(9;11;22)(q34;q13;q11)]  
    [t(9;12;22)(q34;p11;q11)]  [t(9;12;22)(q34;p13;q11)]  [t(9;12;22)(q34;q13;q11)]  [t(9;12;22)(q34;q15;q11)]  
    [t(9;13;22)(q34;q13;q11)]  [t(9;13;22)(q34;q14;q11)]  [t(9;13;22)(q34;q31;q11)]  [t(9;14;22)(q34;q11;q11)]  
    [t(9;14;22)(q34;q32;q11)]  [t(9;15;22)(q34;q24;q11)]  [t(9;17;22)(q34;q11;q11)]  [t(9;17;22)(q34;q22;q11)]  
    [t(9;17;22)(q34;q23;q11)]  [t(9;19;22)(q34;q13;q11)]  [t(9;21;22)(q34;q22;q11)]  [t(9;22)(q34;q11)]  
    [t(9;22)(q34;q11)t(9;9)(q13;q34)t(9;22)]  [t(9;22;10)(q34;q11;p12)]  [t(9;22;10)(q34;q11;p14)]  [t(9;22;10)(q34;q11;q11)]  
    [t(9;22;10)(q34;q11;q21)]  [t(9;22;10)(q34;q11;q22)]  [t(9;22;11)(q34;q11;p14)]  [t(9;22;11)(q34;q11;q11)]  
    [t(9;22;11)(q34;q11;q12)]  [t(9;22;11)(q34;q11;q13)]  [t(9;22;12)(q34;q11;p12)]  [t(9;22;12)(q34;q11;p13)]  
    [t(9;22;12)(q34;q11;q11)]  [t(9;22;12)(q34;q11;q13)]  [t(9;22;12)(q34;q11;q14)]  [t(9;22;12)(q34;q11;q15)]  
    [t(9;22;12)(q34;q11;q24)]  [t(9;22;13)(q34;q11;p12)]  [t(9;22;13)(q34;q11;q12)]  [t(9;22;13)(q34;q11;q13)]  
    [t(9;22;13)(q34;q11;q14)]  [t(9;22;13)(q34;q11;q21)]  [t(9;22;14)(q34;q11;p11)]  [t(9;22;14)(q34;q11;q13)]  
    [t(9;22;14)(q34;q11;q22)]  [t(9;22;14)(q34;q11;q23)]  [t(9;22;14)(q34;q11;q24)]  [t(9;22;14)(q34;q11;q32)]  
    [t(9;22;15)(q34;q11;q11)]  [t(9;22;15)(q34;q11;q14)]  [t(9;22;15)(q34;q11;q15)]  [t(9;22;15)(q34;q11;q21)]  
    [t(9;22;15)(q34;q11;q22)]  [t(9;22;15)(q34;q11;q24)]  [t(9;22;15)(q34;q11;q25)]  [t(9;22;15)(q34;q11;q26)]  
    [t(9;22;16)(q34;q11;p12)]  [t(9;22;16)(q34;q11;p13)]  [t(9;22;16)(q34;q11;q13)]  [t(9;22;16)(q34;q11;q24)]  
    [t(9;22;17)(q34;q11;p11)]  [t(9;22;17)(q34;q11;p13)]  [t(9;22;17)(q34;q11;q21)]  [t(9;22;17)(q34;q11;q22)]  
    [t(9;22;17)(q34;q11;q23)]  [t(9;22;17)(q34;q11;q24)]  [t(9;22;17)(q34;q11;q25)]  [t(9;22;18)(q34;q11;p11)]  
    [t(9;22;19)(q34;q11;p13)]  [t(9;22;19)(q34;q11;q12)]  [t(9;22;19)(q34;q11;q13)]  [t(9;22;20)(q34;q11;p13)]  
    [t(9;22;20)(q34;q11;q11)]  [t(9;22;20)(q34;q11;q13)]  [t(9;22;21)(q34;q11;p11)]  [t(9;22;21)(q34;q11;q11)]  
    [t(9;22;21)(q34;q11;q22)]  [t(9;22;22)(q34;q11;q11)]  [t(9;22;22)(q34;q11;q13)]  [t(9;7;22)(q34;p21;q11)]  
    [t(9;9;22)(p13;q34;q11)]  [t(9;9;22)(p13;q34;q22)]  [t(9;9;22)(q22;q34;q11)]  [t(9;9;22)(q34;q34;q11)]  
    [t(X;9;22)(p11;q34;q11)]  [t(X;9;22)(p22;q34;q11)]  [t(X;9;22)(q11;q34;q11)]  [t(X;9;22)(q24;q34;q11)]  
    [t(Y;9;22)(q12;q34;q11)]  
    Fusion : MitelmanEML1/ABL1 [14q32.2/9q34.12]  [t(9;14)(q34;q32)]  
    Fusion : MitelmanETV6/ABL1 [12p13.2/9q34.12]  [ins(12;9)(p13;q34q34)]  [ins(9;12)(q34;p13p13)]  
    [t(9;12)(q34;p13)]  [t(9;12;14)(q34;p13;q22)]  
    Fusion : MitelmanFOXP1/ABL1 [3p13/9q34.12]  [t(3;9)(p13;q34)]  
    Fusion : MitelmanINPP5D/ABL1 [2q37.1/9q34.12]  [t(2;9)(q37;q34)]  
    Fusion : MitelmanNUP214/ABL1 [9q34.13/9q34.12]  [r(9)(q34q34)]  [t(9;9)(q34;q34)]  
    Fusion : MitelmanRANBP2/ABL1 [2q12.3/9q34.12]  [t(2;9)(q13;q34)]  
    Fusion : MitelmanRCSD1/ABL1 [1q24.2/9q34.12]  [t(1;9)(q24;q34)]  
    Fusion : MitelmanSFPQ/ABL1 [16q24.1/9q34.12]  [t(1;9)(p34;q34)]  
    Fusion : MitelmanSNX2/ABL1 [5q23.2/9q34.12]  [t(5;9)(q23;q34)]  
    Fusion : MitelmanZMIZ1/ABL1 [10q22.3/9q34.12]  [t(9;10)(q34;q23)]  
    Fusion : COSMICBCR [22q11.23]  -  ABL1 [9q34.12]  [fusion_1739]  [fusion_1740]  [fusion_1741]  [fusion_1742]  [fusion_1743]  [fusion_1744]  [fusion_1745]  
    [fusion_1746]  [fusion_1747]  [fusion_1748]  [fusion_1751]  [fusion_1752]  [fusion_1753]  [fusion_1754]  [fusion_1755]  [fusion_1756]  [fusion_1757]  
    [fusion_1758]  [fusion_1759]  [fusion_1760]  [fusion_1761]  [fusion_1762]  [fusion_1763]  [fusion_1764]  [fusion_1765]  [fusion_1766]  [fusion_1768]  
    [fusion_1769]  [fusion_1771]  [fusion_1773]  [fusion_1774]  [fusion_1775]  [fusion_1777]  [fusion_1778]  [fusion_1779]  [fusion_1780]  [fusion_1781]  
    [fusion_1782]  [fusion_1783]  [fusion_1788]  [fusion_1789]  [fusion_1791]  [fusion_1793]  [fusion_1794]  
    Fusion: TCGAABL1 9q34.12 ADAMTSL2 9q34.2 BRCA
    Fusion: TCGAABL1 9q34.12 BCR 22q11.23 LAML
    Fusion: TCGAABL1 9q34.12 CCBL1 9q34.11 LUSC
    Fusion: TCGAABL1 9q34.12 DDX27 20q13.13 BLCA
    Fusion: TCGAABL1 9q34.12 EXOSC2 9q34.12 HNSC
    Fusion : TICdbBCR [22q11.23]  -  ABL1 [9q34.12]
    Fusion : TICdbEML1 [14q32.2]  -  ABL1 [9q34.12]
    Fusion : TICdbETV6 [12p13.2]  -  ABL1 [9q34.12]
    Fusion : TICdbFOXP1 [3p13]  -  ABL1 [9q34.12]
    Fusion : TICdbINPP5D [2q37.1]  -  ABL1 [9q34.12]
    Fusion : TICdbNUP214 [9q34.13]  -  ABL1 [9q34.12]
    Fusion : TICdbRCSD1 [1q24.2]  -  ABL1 [9q34.12]
    Fusion : TICdbSFPQ [1p34.3]  -  ABL1 [9q34.12]
    Fusion : TICdbSNX2 [5q23.2]  -  ABL1 [9q34.12]
    Fusion : TICdbZMIZ1 [10q22.3]  -  ABL1 [9q34.12]
    Fusion Cancer (Beijing)BCR [22q11.23]  -  ABL1 [9q34.12]  [FUSC001404]  [FUSC001404]  [FUSC001404]  [FUSC001404]
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerABL1 [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)ABL1
    dbVarABL1
    ClinVarABL1
    1000_GenomesABL1 
    Exome Variant ServerABL1
    ExAC (Exome Aggregation Consortium)ENSG00000097007
    GNOMAD BrowserENSG00000097007
    Genetic variants : HAPMAP25
    Genomic Variants (DGV)ABL1 [DGVbeta]
    DECIPHERABL1 [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisABL1 
    Mutations
    ICGC Data PortalABL1 
    TCGA Data PortalABL1 
    Broad Tumor PortalABL1
    OASIS PortalABL1 [ Somatic mutations - Copy number]
    Cancer Gene: CensusABL1 
    Somatic Mutations in Cancer : COSMICABL1  [overview]  [genome browser]  [tissue]  [distribution]  
    Mutations and Diseases : HGMDABL1
    LOVD (Leiden Open Variation Database)Whole genome datasets
    LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
    LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
    BioMutasearch ABL1
    DgiDB (Drug Gene Interaction Database)ABL1
    DoCM (Curated mutations)ABL1 (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)ABL1 (select a term)
    intoGenABL1
    NCG5 (London)ABL1
    Cancer3DABL1(select the gene name)
    Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM189980   
    Orphanet3705    14433    14434   
    MedgenABL1
    Genetic Testing Registry ABL1
    NextProtP00519 [Medical]
    TSGene25
    GENETestsABL1
    Target ValidationABL1
    Huge Navigator ABL1 [HugePedia]
    snp3D : Map Gene to Disease25
    BioCentury BCIQABL1
    ClinGenABL1
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD25
    Chemical/Pharm GKB GenePA24413
    Clinical trialABL1
    Miscellaneous
    canSAR (ICR)ABL1 (select the gene name)
    Probes
    Litterature
    PubMed499 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineABL1
    EVEXABL1
    GoPubMedABL1
    iHOPABL1
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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