Gene Report

Gene: ABL1     Link to MethyView
Summary
Gene symbol ABL1
Alias ABL, ABL1, BCR/ABL, C-ABL, JTK7, P150, V-ABL
Cytogenetic Location 9q34.1
Type KNOWN
Property protein_coding
Description Proto-oncogene tyrosine-protein kinase ABL1 (EC 2.7.10.2) (p150) (c-ABL) (Abelson murine leukemia viral oncogene homolog 1) [ABL] [JTK7]
External Links
   Ensembl ENSG00000097007
   OMIM 189980
   UniGene Hs.431048 Hs.597020
   mRNA NM_005157.3 NM_007313.2
   SwissProt P00519
 
Diseases(Cancers)
Cancer Name t(9;14)(q34;q32)
Description tyrosine kinase
 
Cancer Name amplified NUP214/ABL1
Description Alternate splicing. mRNA of 6 and 7 kb145 kDa; Localization: nuclear and cytoplasmic; Tyrosine kinase; Ubiquitously expressed
 
Cancer Name t(9;12)(q34;p13)
Description "common ALL; yet poorly known. ETV6 is fused to exon 2 of ABL in the three cases describedtyrosine kinase, localized primarily to the nucleus"
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.5'ETV6 - 3'ABL; two different fusion breakpoints have been described; ETV6 exon 4 fused in frame to ABL exon 2 (Type A) and ETV6 exon 5 fused in frame to ABL exon 2 (Type B); ETV6 maintains the HLH domain and ABL the tyrosine kinase domain
Oncogenesis " forms HLH-dependent oligomers, which may be critical for Tyr kinase activation; oncogenesis may be comparable to that induced by BCR/ABL "
 
Cancer Name Lung: Non-small cell carcinoma
Description From COSMIC census:
 
Cancer Name Skin Melanoma
Description From COSMIC:
 
Cancer Name t(9;22)(q34;q11) in ALL
Description most often CD 10+ ALL; frequent CNS involvement
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 ANLL
    HYBRID_GENE
  • 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 ANLL
  • 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;
    3- BCR/ABL provokes cell adhesive abnormalities."
     
    Cancer Name T-lineage acute lymphoblastic leukemia (T-ALL)
    Description From cancer gene census of CGP:
     
    Cancer Name t(9;22)(q34;q11) in ANLL
    Description ANLL mostly M1 or M2 ANL
    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 ANLL
    HYBRID_GENE
  • 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 ANLL
  • 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;
    3- BCR/ABL provokes cell adhesive abnormalities."
     
    Cancer Name Acute lymphocytic leukemia
    Description From cancer gene census of CGP:
     
    Cancer Name Chronic myelogenous leukaemia (CML)
    Description From COSMIC, cancer gene census of CGP
     
    Cancer Name t(9;22)(q34;q11) in CML
    Description " 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 "
    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 ANLL
    HYBRID_GENE
  • 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 ANLL
  • 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;
    3- BCR/ABL provokes cell adhesive abnormalities."
     
    Expression
    Expresstion pancreatic, pineal, mammary, liver, head, brain, cervix, colon, muscle, placenta, pooled, uncharacterized, cartilage, ovary, cerebellum, bone, uterus, kidney, pancreas, pituitary, skin, cerebrum, heart, lymphoreticular, embryonic, prostate, lung, lymph, thyroid, nervous, testis, retina, eye, adipose, genitourinary, thymus, spleen
    Related library Link
     
    Genomic Regions, Transcripts and Proteins
    Gene Structure <0...574>, <140183...140356>, <140920...141215>, <148882...149154>, <158248...158332>, <158979...159156>, <160987...161171>, <164534...164686>, <166187...166276>, <166619...166783>, <170088...173794>
    Ensembl Transcript ENST00000372348
    Ensembl Protein ENSP00000361423
    Gene Ontology GO:0000074 IEA Generated via P01135
    GO:0016301 IEA Generated via Q5T432
    GO:0018108 IEA Generated via Q13627
    GO:0004672 IEA Generated via Q5JPI2
    GO:0005515 IEA Generated via P54259
     
    Gene Structure <0...459>, <18998...19171>, <19735...20030>, <27697...27969>, <37063...37147>, <37794...37971>, <39802...39986>, <43349...43501>, <45002...45091>, <45434...45598>, <48903...52609>
    Ensembl Transcript ENST00000318560
    Ensembl Protein ENSP00000323315
    Gene Ontology GO:0008022 IPI Generated via O94812
    GO:0005524 IDA Generated via Q59F24
    GO:0030145 IDA Generated via Q8N5D6
    GO:0016740 IEA Generated via Q86UN3
    GO:0000287 IDA Generated via Q9Y251
    GO:0000166 IEA Generated via Q9Y2A5
    GO:0004713 IDA Generated via Q59F24
    GO:0003677 NAS Generated via Q9Y2A4
    GO:0008630 TAS Generated via P38398
    GO:0018108 IDA Generated via Q13627
    GO:0007155 IEA Generated via O14549
    GO:0007242 IEA Generated via Q5HYD7
    GO:0006298 TAS Generated via Q5XG96
    GO:0006355 TAS Generated via Q9UBW7
    GO:0000074 TAS Generated via P01135
    GO:0000115 TAS Generated via P00519
    GO:0005856 IEA Generated via Q9UDT6
    GO:0030036 ISS Generated via Q18PA1
    GO:0005634 NAS Generated via P54259
     
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    DNA methylation and CGIs
    Gene MethyCancer Type Annotated cancer gene with experimental methylation data
    Link to MethyView
     
    Mutations
    Nucleotide c.758A>T
    Amino Acid p.Y253F
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.758A>T
    Amino Acid p.Y253F
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Q252R
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.758A>T
    Amino Acid p.Y253F
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y253F
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y253F
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y253F
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.756G>C
    Amino Acid p.Q252H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.756G>C
    Amino Acid p.Q252H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.756G>C
    Amino Acid p.Q252H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.756G>C
    Amino Acid p.Q252H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Q252H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Q252H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.756G>C
    Amino Acid p.Q252H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.756G>T
    Amino Acid p.Q252H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.749G>A
    Amino Acid p.G250E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.749G>A
    Amino Acid p.G250E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.749G>A
    Amino Acid p.G250E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.L248V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Q252E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.G250E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.G250E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.749G>A
    Amino Acid p.G250E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.730A>G
    Amino Acid p.M244V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.730A>G
    Amino Acid p.M244V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M237I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M237I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.L248V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.L248V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.742C>G
    Amino Acid p.L248V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M244V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.139C>G
    Amino Acid p.R47G
    Type mutation
    Tissue lung
    Source CGP
     
    Nucleotide c.139C>G
    Amino Acid p.R47G
    Type mutation
    Tissue lung
    Source CGP
     
    Nucleotide c.497G>A
    Amino Acid p.R166K
    Type mutation
    Tissue skin
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.931T>C
    Amino Acid p.F311L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.931T>C
    Amino Acid p.F311L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.827A>G
    Amino Acid p.D276G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.V304G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.D276G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.D276G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.764A>T
    Amino Acid p.E255V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.D276G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.764A>T
    Amino Acid p.E255V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.764A>T
    Amino Acid p.E255V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.764A>T
    Amino Acid p.E255V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.764A>T
    Amino Acid p.E255V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.764A>T
    Amino Acid p.E255V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.763G>A
    Amino Acid p.E255K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.757T>C
    Amino Acid p.Y253H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M343T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.G321E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>A
    Amino Acid p.T315N
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.951C>G
    Amino Acid p.F317L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.951C>G
    Amino Acid p.F317L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F317L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F317L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.951C>G
    Amino Acid p.F317L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F317L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.G321E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.G321E
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F317L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F317L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.944C>T
    Amino Acid p.T315I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1457T>C
    Amino Acid p.F486S
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1375G>A
    Amino Acid p.E459K
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1250C>A
    Amino Acid p.S417Y
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1187A>C
    Amino Acid p.H396P
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.V379I
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F382L
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.V371A
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E373G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1075T>G
    Amino Acid p.F359V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1075T>G
    Amino Acid p.F359V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F359V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F359V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.H396R
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.H396R
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1187A>G
    Amino Acid p.H396R
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.H396R
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1187A>G
    Amino Acid p.H396R
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1187A>G
    Amino Acid p.H396R
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.L387M
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.T389A
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y353H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.Y353H
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1064A>G
    Amino Acid p.E355G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1064A>G
    Amino Acid p.E355G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E352G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E352G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E352G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1075T>G
    Amino Acid p.F359V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1075T>G
    Amino Acid p.F359V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F359V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1075T>G
    Amino Acid p.F359V
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1064A>G
    Amino Acid p.E355G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1064A>G
    Amino Acid p.E355G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.F359A
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.E355G
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.1052T>C
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Nucleotide c.?
    Amino Acid p.M351T
    Type mutation
    Tissue haematopoietic_and_lymphoid_tissue
    Source CGP
     
    Pathway
    KEGG Tight junction Link to KEGG
     
    KEGG Cell cycle Link to KEGG
     
    KEGG Pathogenic Escherichia coli infection - EPEC Link to KEGG
     
    KEGG Natural killer cell mediated cytotoxicity Link to KEGG
     
    KEGG T cell receptor signaling pathway Link to KEGG
     
    KEGG Pathogenic Escherichia coli infection - EHEC Link to KEGG
     
    KEGG Adherens junction Link to KEGG
     
    KEGG Jak-STAT signaling pathway Link to KEGG
     
    KEGG Adipocytokine signaling pathway Link to KEGG
     
    KEGG VEGF signaling pathway Link to KEGG
     
    KEGG Calcium signaling pathway Link to KEGG
     
    KEGG Axon guidance Link to KEGG
     
    KEGG Leukocyte transendothelial migration Link to KEGG
     
    KEGG Gap junction Link to KEGG
     
    KEGG Focal adhesion Link to KEGG
     
    KEGG B cell receptor signaling pathway Link to KEGG
     
    KEGG GnRH signaling pathway Link to KEGG
     
    KEGG Regulation of actin cytoskeleton Link to KEGG
     
    KEGG Fc epsilon RI signaling pathway Link to KEGG
     
    KEGG Long-term depression Link to KEGG
     
    KEGG Epithelial cell signaling in Helicobacter pylori infection Link to KEGG
     
    Bibliography
    Title Regulation of cell death by the Abl tyrosine kinase.
    Authors Wang JYJ .
    Citations Oncogene 2000; 19 : 5643-5650.
    PubMedID 11114745
     
    Title The molecular biology of chronic myeloid leukemia.
    Authors Deininger MWN, Goldman JM, Melo JV
    Citations Blood 2000; 96: 3343-3356.
    PubMedID 11071626
     
    Title Nuclear-cytoplasmic shuttling of C-ABL tyrosine kinase.
    Authors Taagepera S, McDonald D, Loeb JE, Whitaker LL, McElroy AK, Wang JYJ, Hope TJ.
    Citations Proc Natl Acad Sci USA 1998; 95 : 7457-7462.
    PubMedID 9636171
     
    Title The molecular pathology of chronic myelogenous leukaemia
    Authors Kurzrock R, Talpaz M
    Citations Br J Haematol 1991; 79 Suppl 1: 34-37
    PubMedID 92031068
     
    Title Molecular insights into the Philadelphia translocation
    Authors Heisterkamp N, Groffen J
    Citations Hematol Pathol 1991; 5: 1-10
    PubMedID 91267879
     
    Title The function of BCR/ABL and related proto-oncogenes
    Authors Gotoh A, Broxmeyer HE
    Citations Curr Opin Hematol 1997; 4: 3-11
    PubMedID 97196352