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Fusion gene ID: 251 |
FusionGeneSummary for ABL1_BCR |
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Fusion gene information | Fusion gene name: ABL1_BCR | Fusion gene ID: 251 | Hgene | Tgene | Gene symbol | ABL1 | BCR | Gene ID | 25 | 613 |
Gene name | ABL proto-oncogene 1, non-receptor tyrosine kinase | BCR, RhoGEF and GTPase activating protein | |
Synonyms | ABL|CHDSKM|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-abl | ALL|BCR1|CML|D22S11|D22S662|PHL | |
Cytomap | 9q34.12 | 22q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | tyrosine-protein kinase ABL1Abelson tyrosine-protein kinase 1bcr/c-abl oncogene proteinc-abl oncogene 1, receptor tyrosine kinaseproto-oncogene c-Ablproto-oncogene tyrosine-protein kinase ABL1v-abl Abelson murine leukemia viral oncogene homolog 1 | breakpoint cluster region proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26 | |
Modification date | 20180527 | 20180527 | |
UniProtAcc | P00519 | P11274 | |
Ensembl transtripts involved in fusion gene | ENST00000318560, | ENST00000305877, ENST00000359540, ENST00000398512, ENST00000436990, | |
Fusion gene scores | * DoF score | 14 X 13 X 10=1820 | 6 X 12 X 4=288 |
# samples | 23 | 15 | |
** MAII score | log2(23/1820*10)=-2.98423268414168 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/288*10)=-0.941106310946431 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ABL1 [Title/Abstract] AND BCR [Title/Abstract] AND fusion [Title/Abstract] Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion (pmid: 12419580) | ||
Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. Kinase involved fusion gene, inframe and retained kinase domain. Transcription factor involved fusion gene, inframe and retained DNA-binding domain. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ABL1 | GO:0006974 | cellular response to DNA damage stimulus | 15657060 |
Hgene | ABL1 | GO:0006975 | DNA damage induced protein phosphorylation | 18280240 |
Hgene | ABL1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 7590236|9144171|10713049|11121037 |
Hgene | ABL1 | GO:0038083 | peptidyl-tyrosine autophosphorylation | 10518561 |
Hgene | ABL1 | GO:0042770 | signal transduction in response to DNA damage | 9037071|15657060 |
Hgene | ABL1 | GO:0043065 | positive regulation of apoptotic process | 9037071 |
Hgene | ABL1 | GO:0046777 | protein autophosphorylation | 10713049 |
Hgene | ABL1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 15657060 |
Hgene | ABL1 | GO:0051353 | positive regulation of oxidoreductase activity | 12893824 |
Hgene | ABL1 | GO:0051444 | negative regulation of ubiquitin-protein transferase activity | 20823226 |
Hgene | ABL1 | GO:0070301 | cellular response to hydrogen peroxide | 10713049 |
Hgene | ABL1 | GO:0071901 | negative regulation of protein serine/threonine kinase activity | 11121037 |
Hgene | ABL1 | GO:1990051 | activation of protein kinase C activity | 10713049 |
Hgene | ABL1 | GO:2001020 | regulation of response to DNA damage stimulus | 9461559 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LAML | TCGA-AB-2817-03A | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23595986 | + |
TCGA | RV | LAML | TCGA-AB-2941-03A | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23634728 | + |
TCGA | RV | LAML | TCGA-AB-2901-03A | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23634728 | + |
ChiTaRS3.1 | JQ425243 | ABL1 | chr9 | 133609600 | + | BCR | chr22 | 23633410 | + | ||
ChiTaRS3.1 | JQ425252 | ABL1 | chr9 | 133611321 | + | BCR | chr22 | 23632429 | + | ||
ChiTaRS3.1 | JQ425250 | ABL1 | chr9 | 133651594 | + | BCR | chr22 | 23633431 | + | ||
ChiTaRS3.1 | JQ425248 | ABL1 | chr9 | 133715193 | + | BCR | chr22 | 23632419 | + | ||
ChiTaRS3.1 | JQ425245 | ABL1 | chr9 | 133614221 | + | BCR | chr22 | 23632569 | + | ||
ChiTaRS3.1 | JQ425240 | ABL1 | chr9 | 133686164 | + | BCR | chr22 | 23632728 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000318560 | ENST00000305877 | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23595986 | + |
intron-3CDS | ENST00000318560 | ENST00000359540 | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23595986 | + |
intron-intron | ENST00000318560 | ENST00000398512 | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23595986 | + |
intron-intron | ENST00000318560 | ENST00000436990 | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23595986 | + |
intron-3CDS | ENST00000318560 | ENST00000305877 | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23634728 | + |
intron-3CDS | ENST00000318560 | ENST00000359540 | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23634728 | + |
intron-intron | ENST00000318560 | ENST00000398512 | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23634728 | + |
intron-intron | ENST00000318560 | ENST00000436990 | ABL1 | chr9 | 133589842 | + | BCR | chr22 | 23634728 | + |
intron-intron | ENST00000318560 | ENST00000305877 | ABL1 | chr9 | 133609600 | + | BCR | chr22 | 23633410 | + |
intron-intron | ENST00000318560 | ENST00000359540 | ABL1 | chr9 | 133609600 | + | BCR | chr22 | 23633410 | + |
intron-intron | ENST00000318560 | ENST00000398512 | ABL1 | chr9 | 133609600 | + | BCR | chr22 | 23633410 | + |
intron-intron | ENST00000318560 | ENST00000436990 | ABL1 | chr9 | 133609600 | + | BCR | chr22 | 23633410 | + |
intron-intron | ENST00000318560 | ENST00000305877 | ABL1 | chr9 | 133611321 | + | BCR | chr22 | 23632429 | + |
intron-intron | ENST00000318560 | ENST00000359540 | ABL1 | chr9 | 133611321 | + | BCR | chr22 | 23632429 | + |
intron-intron | ENST00000318560 | ENST00000398512 | ABL1 | chr9 | 133611321 | + | BCR | chr22 | 23632429 | + |
intron-intron | ENST00000318560 | ENST00000436990 | ABL1 | chr9 | 133611321 | + | BCR | chr22 | 23632429 | + |
intron-intron | ENST00000318560 | ENST00000305877 | ABL1 | chr9 | 133651594 | + | BCR | chr22 | 23633431 | + |
intron-intron | ENST00000318560 | ENST00000359540 | ABL1 | chr9 | 133651594 | + | BCR | chr22 | 23633431 | + |
intron-intron | ENST00000318560 | ENST00000398512 | ABL1 | chr9 | 133651594 | + | BCR | chr22 | 23633431 | + |
intron-intron | ENST00000318560 | ENST00000436990 | ABL1 | chr9 | 133651594 | + | BCR | chr22 | 23633431 | + |
intron-intron | ENST00000318560 | ENST00000305877 | ABL1 | chr9 | 133715193 | + | BCR | chr22 | 23632419 | + |
intron-intron | ENST00000318560 | ENST00000359540 | ABL1 | chr9 | 133715193 | + | BCR | chr22 | 23632419 | + |
intron-intron | ENST00000318560 | ENST00000398512 | ABL1 | chr9 | 133715193 | + | BCR | chr22 | 23632419 | + |
intron-intron | ENST00000318560 | ENST00000436990 | ABL1 | chr9 | 133715193 | + | BCR | chr22 | 23632419 | + |
intron-3CDS | ENST00000318560 | ENST00000305877 | ABL1 | chr9 | 133614221 | + | BCR | chr22 | 23632569 | + |
intron-3CDS | ENST00000318560 | ENST00000359540 | ABL1 | chr9 | 133614221 | + | BCR | chr22 | 23632569 | + |
intron-intron | ENST00000318560 | ENST00000398512 | ABL1 | chr9 | 133614221 | + | BCR | chr22 | 23632569 | + |
intron-intron | ENST00000318560 | ENST00000436990 | ABL1 | chr9 | 133614221 | + | BCR | chr22 | 23632569 | + |
intron-intron | ENST00000318560 | ENST00000305877 | ABL1 | chr9 | 133686164 | + | BCR | chr22 | 23632728 | + |
intron-intron | ENST00000318560 | ENST00000359540 | ABL1 | chr9 | 133686164 | + | BCR | chr22 | 23632728 | + |
intron-intron | ENST00000318560 | ENST00000398512 | ABL1 | chr9 | 133686164 | + | BCR | chr22 | 23632728 | + |
intron-intron | ENST00000318560 | ENST00000436990 | ABL1 | chr9 | 133686164 | + | BCR | chr22 | 23632728 | + |
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FusionProtFeatures for ABL1_BCR |
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Hgene | Tgene |
ABL1 | BCR |
Non-receptor tyrosine-protein kinase that plays a rolein many key processes linked to cell growth and survival such ascytoskeleton remodeling in response to extracellular stimuli, cellmotility and adhesion, receptor endocytosis, autophagy, DNA damageresponse and apoptosis. Coordinates actin remodeling throughtyrosine phosphorylation of proteins controlling cytoskeletondynamics like WASF3 (involved in branch formation); ANXA1(involved in membrane anchoring); DBN1, DBNL, CTTN, RAPH1 and ENAH(involved in signaling); or MAPT and PXN (microtubule-bindingproteins). Phosphorylation of WASF3 is critical for thestimulation of lamellipodia formation and cell migration. Involvedin the regulation of cell adhesion and motility throughphosphorylation of key regulators of these processes such asBCAR1, CRK, CRKL, DOK1, EFS or NEDD9. Phosphorylates multiplereceptor tyrosine kinases and more particularly promotesendocytosis of EGFR, facilitates the formation of neuromuscularsynapses through MUSK, inhibits PDGFRB-mediated chemotaxis andmodulates the endocytosis of activated B-cell receptor complexes.Other substrates which are involved in endocytosis regulation arethe caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the CBLfamily of ubiquitin ligases that drive receptor down-regulationand actin remodeling. Phosphorylation of CBL leads to increasedEGFR stability. Involved in late-stage autophagy by regulatingpositively the trafficking and function of lysosomal components.ABL1 targets to mitochondria in response to oxidative stress andthereby mediates mitochondrial dysfunction and cell death. Inresponse to oxidative stress, phosphorylates serine/threoninekinase PRKD2 at 'Tyr-717' (PubMed:28428613). ABL1 is alsotranslocated in the nucleus where it has DNA-binding activity andis involved in DNA-damage response and apoptosis. Many substratesare known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6,RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathwaywhen the DNA damage is too severe to be repaired. PhosphorylatesTP73, a primary regulator for this type of damage-inducedapoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' andregulates its processing in the apoptotic response to DNA damage.Phosphorylates PSMA7 that leads to an inhibition of proteasomalactivity and cell cycle transition blocks. ABL1 acts also as aregulator of multiple pathological signaling cascades duringinfection. Several known tyrosine-phosphorylated microbialproteins have been identified as ABL1 substrates. This is the caseof A36R of Vaccinia virus, Tir (translocated intimin receptor) ofpathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA (ankyrin repeat-containingprotein A) of A.phagocytophilum. Pathogens can highjack ABL1kinase signaling to reorganize the host actin cytoskeleton formultiple purposes, like facilitating intracellular movement andhost cell exit. Finally, functions as its own regulator throughautocatalytic activity as well as through phosphorylation of itsinhibitor, ABI1. Regulates T-cell differentiation in a TBX21-dependent manner. Phosphorylates TBX21 on tyrosine residuesleading to an enhancement of its transcriptional activatoractivity (By similarity). {ECO:0000250|UniProtKB:P00520,ECO:0000269|PubMed:10391250, ECO:0000269|PubMed:11971963,ECO:0000269|PubMed:12379650, ECO:0000269|PubMed:12531427,ECO:0000269|PubMed:12672821, ECO:0000269|PubMed:15031292,ECO:0000269|PubMed:15556646, ECO:0000269|PubMed:15657060,ECO:0000269|PubMed:15886098, ECO:0000269|PubMed:16424036,ECO:0000269|PubMed:16678104, ECO:0000269|PubMed:16943190,ECO:0000269|PubMed:17306540, ECO:0000269|PubMed:17623672,ECO:0000269|PubMed:18328268, ECO:0000269|PubMed:18945674,ECO:0000269|PubMed:19891780, ECO:0000269|PubMed:20357770,ECO:0000269|PubMed:20417104, ECO:0000269|PubMed:28428613,ECO:0000269|PubMed:9037071, ECO:0000269|PubMed:9144171,ECO:0000269|PubMed:9461559}. | GTPase-activating protein for RAC1 and CDC42. Promotesthe exchange of RAC or CDC42-bound GDP by GTP, thereby activatingthem. Displays serine/threonine kinase activity.{ECO:0000269|PubMed:1657398, ECO:0000269|PubMed:1903516}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ABL1_BCR |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ABL1_BCR |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ABL1 | ATM, NTRK1, PTPN6, RB1, BRCA1, BCR, ABL1, PIK3R1, RAD51, ABI2, BCAR1, ATR, ABL2, CRKL, CREB1, JAK1, YTHDC1, GPX1, CAT, ABI1, TP53, SHC1, INPPL1, SOS1, SLC9A2, PRKDC, TP73, DOK1, ST5, ZAP70, RFX1, RAD9A, TERF1, HCK, GRB2, VAV1, MDM2, MTOR, ZDHHC16, SPTA1, SPTAN1, ARHGAP17, EVL, PSTPIP1, NEDD9, CABLES2, SORBS2, SH3BP1, CBL, TUB, GRB10, RYBP, PAK2, PAG1, RAN, NCK1, PLCG1, MICAL1, XRCC6, SORBS1, SHD, SHE, EPHB2, EPHA3, SRC, NCOA3, TOPBP1, HSP90AA1, HSPA4, NFKBIA, PARK2, STK4, NEDD4, BAG1, HSPA8, NEDD4L, PCNA, ANKRA2, YWHAQ, PSMA7, PSMA4, PSMD4, SH3KBP1, FGFR1OP, WRNIP1, JUN, GAB3, HUWE1, MDM4, DDB1, LRRK1, PIK3R2, AP2M1, UBASH3B, EPS15, CRK, AP2B1, BMP2K, REPS1, STON2, CBLB, AP2A1, WASF1, MAPT, PFDN4, PDE4D, PRDX1, EGFR, ERBB2, ERBB3, ERBB4, SOCS3, SOCS1, MUC1, YWHAB, YWHAE, YWHAG, YWHAH, YWHAZ, SFN, XPO1, RASA1, DOK2, CDKN1B, PTGES3, HSPD1, UBC, CTNNB1, SRPK2, PARP1, USP7, LATS2, SPRR2A, CASP9, YAP1, FOS, CDK1, GTF2F1, CCND2, ACTA1, STUB1, CDON, MBP, SPAG9, MSH5, MAVS, RAPGEF1, PRKCZ, BCL2L1, CKAP4, DDX5, DRG1, EEF1G, EIF2A, EWSR1, FUS, HNRNPM, HSPE1, ILF3, LRRC59, RPL37, RPLP1, RPS21, SUB1, SHB, RTFDC1, LARS, NAA25, NARS, PAK4, PPM1B, GRAP2, HIPK2, CDKN1A, RPS6KB1, RIN1, EMD, TMPO, TRIM25, ANAPC15, DVL2, PLEKHA4 | BCR | MLLT4, HCK, PTPN6, FES, RB1, ERCC3, GRB2, ABL1, GAB2, HOXA9, CRKL, KIT, PIK3CG, IGSF21, TP53, UNC119, SOS1, PXN, RAC1, CDC42, RHOA, IL3, WDR48, TSG101, VPS28, INPP5D, MYC, HSP90AA1, HSPA8, HIF1A, CRK, GABRR1, CBL, LNX1, LRRK1, GRK5, UBASH3B, PIK3R2, SHC1, AP2M1, CFTR, ERBB2IP, DOK1, PTGES3, HSPA4, HSPD1, UBC, CSNK2A2, STUB1, CCDC183, RSPH9, SEC13, NTRK1, CEP128, NINL, XPO1, PIK3R1, PDZK1, COMMD1, TULP3, JPH4, NAGK, USP15, SPAG9, MCM2, MCM4, WEE1, CSNK1A1, MCM6, TRIM25, RAD51 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ABL1_BCR |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | ABL1 | P00519 | DB00619 | Imatinib | Tyrosine-protein kinase ABL1 | small molecule | approved |
Hgene | ABL1 | P00519 | DB06616 | Bosutinib | Tyrosine-protein kinase ABL1 | small molecule | approved |
Hgene | ABL1 | P00519 | DB08896 | Regorafenib | Tyrosine-protein kinase ABL1 | small molecule | approved |
Hgene | ABL1 | P00519 | DB01254 | Dasatinib | Tyrosine-protein kinase ABL1 | small molecule | approved|investigational |
Hgene | ABL1 | P00519 | DB04868 | Nilotinib | Tyrosine-protein kinase ABL1 | small molecule | approved|investigational |
Hgene | ABL1 | P00519 | DB08901 | Ponatinib | Tyrosine-protein kinase ABL1 | small molecule | approved|investigational |
Tgene | BCR | P11274 | DB06616 | Bosutinib | Breakpoint cluster region protein | small molecule | approved |
Tgene | BCR | P11274 | DB01254 | Dasatinib | Breakpoint cluster region protein | small molecule | approved|investigational |
Tgene | BCR | P11274 | DB08901 | Ponatinib | Breakpoint cluster region protein | small molecule | approved|investigational |
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RelatedDiseases for ABL1_BCR |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ABL1 | C0023473 | Myeloid Leukemia, Chronic | 3 | CTD_human;ORPHANET |
Hgene | ABL1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CTD_human |
Hgene | ABL1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Hgene | ABL1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Hgene | ABL1 | C0023903 | Liver neoplasms | 1 | CTD_human |
Hgene | ABL1 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
Hgene | ABL1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Hgene | ABL1 | C0596263 | Carcinogenesis | 1 | CTD_human |
Hgene | ABL1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | BCR | C0005586 | Bipolar Disorder | 4 | PSYGENET |
Tgene | BCR | C0023473 | Myeloid Leukemia, Chronic | 3 | CTD_human;HPO;ORPHANET |
Tgene | BCR | C0005699 | Blast Phase | 1 | CTD_human |
Tgene | BCR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | BCR | C0027022 | Myeloproliferative disease | 1 | CTD_human;HPO |
Tgene | BCR | C0027540 | Necrosis | 1 | CTD_human |
Tgene | BCR | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
Tgene | BCR | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | BCR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |