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Fusion gene ID: 12171 |
FusionGeneSummary for ETV6_ABL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ETV6_ABL1 | Fusion gene ID: 12171 | Hgene | Tgene | Gene symbol | ETV6 | ABL1 | Gene ID | 2120 | 25 |
| Gene name | ETS variant 6 | ABL proto-oncogene 1, non-receptor tyrosine kinase | |
| Synonyms | TEL|TEL/ABL|THC5 | ABL|CHDSKM|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-abl | |
| Cytomap | 12p13.2 | 9q34.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor ETV6ETS translocation variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene) | 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 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P41212 | P00519 | |
| Ensembl transtripts involved in fusion gene | ENST00000396373, ENST00000544715, | ENST00000318560, | |
| Fusion gene scores | * DoF score | 23 X 26 X 11=6578 | 10 X 38 X 4=1520 |
| # samples | 47 | 62 | |
| ** MAII score | log2(47/6578*10)=-3.8069163462704 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(62/1520*10)=-1.29373120305671 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ETV6 [Title/Abstract] AND ABL1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| 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. 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ETV6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10514502 |
| Tgene | ABL1 | GO:0006974 | cellular response to DNA damage stimulus | 15657060 |
| Tgene | ABL1 | GO:0006975 | DNA damage induced protein phosphorylation | 18280240 |
| Tgene | ABL1 | GO:0018108 | peptidyl-tyrosine phosphorylation | 7590236|9144171|10713049|11121037 |
| Tgene | ABL1 | GO:0038083 | peptidyl-tyrosine autophosphorylation | 10518561 |
| Tgene | ABL1 | GO:0042770 | signal transduction in response to DNA damage | 9037071|15657060 |
| Tgene | ABL1 | GO:0043065 | positive regulation of apoptotic process | 9037071 |
| Tgene | ABL1 | GO:0046777 | protein autophosphorylation | 10713049 |
| Tgene | ABL1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 15657060 |
| Tgene | ABL1 | GO:0051353 | positive regulation of oxidoreductase activity | 12893824 |
| Tgene | ABL1 | GO:0051444 | negative regulation of ubiquitin-protein transferase activity | 20823226 |
| Tgene | ABL1 | GO:0070301 | cellular response to hydrogen peroxide | 10713049 |
| Tgene | ABL1 | GO:0071901 | negative regulation of protein serine/threonine kinase activity | 11121037 |
| Tgene | ABL1 | GO:1990051 | activation of protein kinase C activity | 10713049 |
| Tgene | ABL1 | GO:2001020 | regulation of response to DNA damage stimulus | 9461559 |
| Fusion gene information from three resources (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 |
| ChiTaRS3.1 | Z35761 | ETV6 | chr12 | 12006495 | + | ABL1 | chr9 | 133729449 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
| In-frame | ENST00000396373 | ENST00000318560 | ETV6 | chr12 | 12006495 | + | ABL1 | chr9 | 133729449 | + |
| intron-3CDS | ENST00000544715 | ENST00000318560 | ETV6 | chr12 | 12006495 | + | ABL1 | chr9 | 133729449 | + |
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FusionProtFeatures for ETV6_ABL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ETV6 | ABL1 |
| Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignanttransformation. {ECO:0000269|PubMed:25581430}. | 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}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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 |
| Hgene | ETV6 | chr12:12006495 | chr9:133729449 | ENST00000396373 | + | 4 | 8 | 40_124 | 154 | 453 | Domain | PNT |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 605_609 | 26 | 1131 | Compositional bias | Note=Poly-Lys |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 782_1019 | 26 | 1131 | Compositional bias | Note=Pro-rich |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 897_903 | 26 | 1131 | Compositional bias | Note=Poly-Pro |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 127_217 | 26 | 1131 | Domain | SH2 |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 242_493 | 26 | 1131 | Domain | Protein kinase |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 61_121 | 26 | 1131 | Domain | SH3 |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 1090_1100 | 26 | 1131 | Motif | Nuclear export signal |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 381_405 | 26 | 1131 | Motif | Note=Kinase activation loop |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 709_715 | 26 | 1131 | Motif | Nuclear localization signal 2 |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 762_769 | 26 | 1131 | Motif | Nuclear localization signal 3 |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 248_256 | 26 | 1131 | Nucleotide binding | Note=ATP |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 316_322 | 26 | 1131 | Nucleotide binding | Note=ATP |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 869_968 | 26 | 1131 | Region | DNA-binding |
| Tgene | >ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 953_1130 | 26 | 1131 | Region | Note=F-actin-binding |
| - 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 |
| Hgene | >ETV6 | chr12:12006495 | chr9:133729449 | ENST00000396373 | + | 4 | 8 | 339_420 | 154 | 453 | DNA binding | ETS |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 18_22 | 26 | 1131 | Compositional bias | Note=Poly-Ser |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | + | 0 | 11 | 1_60 | 26 | 1131 | Region | Note=CAP |
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FusionGeneSequence for ETV6_ABL1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_ETV6_ENST00000396373_chr12_12006495_+_ABL1_ENST00000318560_chr9_133729449_+_1259aa MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN GKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEEALQRPVASDFEPQGLSEAARWNSKE NLLAGPSENDPNLFVALYDFVASGDNTLSITKGEKLRVLGYNHNGEWCEAQTKNGQGWVPSNYITPVNSLEKHSWYHGPVSRNAAEYLLS SGINGSFLVRESESSPGQRSISLRYEGRVYHYRINTASDGKLYVSSESRFNTLAELVHHHSTVADGLITTLHYPAPKRNKPTVYGVSPNY DKWEMERTDITMKHKLGGGQYGEVYEGVWKKYSLTVAVKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQLLGVCTREPPFYIITEFMTYGN LLDYLRECNRQEVNAVVLLYMATQISSAMEYLEKKNFIHRDLAARNCLVGENHLVKVADFGLSRLMTGDTYTAHAGAKFPIKWTAPESLA YNKFSIKSDVWAFGVLLWEIATYGMSPYPGIDLSQVYELLEKDYRMERPEGCPEKVYELMRACWQWNPSDRPSFAEIHQAFETMFQESSI SDEVEKELGKQGVRGAVSTLLQAPELPTKTRTSRRAAEHRDTTDVPEMPHSKGQGESDPLDHEPAVSPLLPRKERGPPEGGLNEDERLLP KDKKTNLFSALIKKKKKTAPTPPKRSSSFREMDGQPERRGAGEEEGRDISNGALAFTPLDTADPAKSPKPSNGAGVPNGALRESGGSGFR SPHLWKKSSTLTSSRLATGEEEGGGSSSKRFLRSCSASCVPHGAKDTEWRSVTLPRDLQSTGRQFDSSTFGGHKSEKPALPRKRAGENRS DQVTRGTVTPPPRLVKKNEEAADEVFKDIMESSPGSSPPNLTPKPLRRQVTVAPASGLPHKEEAGKGSALGTPAAAEPVTPTSKAGSGAP GGTSKGPAEESRVRRHKHSSESPGRDKGKLSRLKPAPPPPPAASAGKAGGKPSQSPSQEAAGEAVLGAKTKATSLVDAVNSDAAKPSQPG EGLKKPVLPATPKPQSAKPSGTPISPAPVPSTLPSASSALAGDQPSSTAFIPLISTRVSLRKTRQPPERIASGAITKGVVLDSTEALCLA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ETV6_ENST00000396373_chr12_12006495_+_ABL1_ENST00000318560_chr9_133729449_+_3777nt ATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGCAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTCCTCG ACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGCGCTTGCAGCCAATTTAC TGGAGCAGGGATGACGTAGCCCAGTGGCTCAAGTGGGCTGAAAATGAGTTTTCTTTAAGGCCAATTGACAGCAACACGTTTGAAATGAAT GGCAAAGCTCTCCTGCTGCTGACCAAAGAGGACTTTCGCTATCGATCTCCTCATTCAGGTGATGTGCTCTATGAACTCCTTCAGCATATT CTGAAGCAGAGGAAACCTCGGATTCTTTTTTCACCATTCTTCCACCCTGGAAACTCTATACACACACAGCCGGAGGTCATACTGCATCAG AACCATGAAGAAGAAGCCCTTCAGCGGCCAGTAGCATCTGACTTTGAGCCTCAGGGTCTGAGTGAAGCCGCTCGTTGGAACTCCAAGGAA AACCTTCTCGCTGGACCCAGTGAAAATGACCCCAACCTTTTCGTTGCACTGTATGATTTTGTGGCCAGTGGAGATAACACTCTAAGCATA ACTAAAGGTGAAAAGCTCCGGGTCTTAGGCTATAATCACAATGGGGAATGGTGTGAAGCCCAAACCAAAAATGGCCAAGGCTGGGTCCCA AGCAACTACATCACGCCAGTCAACAGTCTGGAGAAACACTCCTGGTACCATGGGCCTGTGTCCCGCAATGCCGCTGAGTATCTGCTGAGC AGCGGGATCAATGGCAGCTTCTTGGTGCGTGAGAGTGAGAGCAGTCCTGGCCAGAGGTCCATCTCGCTGAGATACGAAGGGAGGGTGTAC CATTACAGGATCAACACTGCTTCTGATGGCAAGCTCTACGTCTCCTCCGAGAGCCGCTTCAACACCCTGGCCGAGTTGGTTCATCATCAT TCAACGGTGGCCGACGGGCTCATCACCACGCTCCATTATCCAGCCCCAAAGCGCAACAAGCCCACTGTCTATGGTGTGTCCCCCAACTAC GACAAGTGGGAGATGGAACGCACGGACATCACCATGAAGCACAAGCTGGGCGGGGGCCAGTACGGGGAGGTGTACGAGGGCGTGTGGAAG AAATACAGCCTGACGGTGGCCGTGAAGACCTTGAAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAAAGAG ATCAAACACCCTAACCTGGTGCAGCTCCTTGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGGGAAC CTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCATGGAG TACCTGGAGAAGAAAAACTTCATCCACAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGATTTT GGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGAGAGCCTGGCC TACAACAAGTTCTCCATCAAGTCCGACGTCTGGGCATTTGGAGTATTGCTTTGGGAAATTGCTACCTATGGCATGTCCCCTTACCCGGGA ATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGGCTGCCCAGAGAAGGTCTATGAACTCATG CGAGCATGTTGGCAGTGGAATCCCTCTGACCGGCCCTCCTTTGCTGAAATCCACCAAGCCTTTGAAACAATGTTCCAGGAATCCAGTATC TCAGACGAAGTGGAAAAGGAGCTGGGGAAACAAGGCGTCCGTGGGGCTGTGAGTACCTTGCTGCAGGCCCCAGAGCTGCCCACCAAGACG AGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAAGGGCCAGGGAGAGAGCGATCCTCTG GACCATGAGCCTGCCGTGTCTCCATTGCTCCCTCGAAAAGAGCGAGGTCCCCCGGAGGGCGGCCTGAATGAAGATGAGCGCCTTCTCCCC AAAGACAAAAAGACCAACTTGTTCAGCGCCTTGATCAAGAAGAAGAAGAAGACAGCCCCAACCCCTCCCAAACGCAGCAGCTCCTTCCGG GAGATGGACGGCCAGCCGGAGCGCAGAGGGGCCGGCGAGGAAGAGGGCCGAGACATCAGCAACGGGGCACTGGCTTTCACCCCCTTGGAC ACAGCTGACCCAGCCAAGTCCCCAAAGCCCAGCAATGGGGCTGGGGTCCCCAATGGAGCCCTCCGGGAGTCCGGGGGCTCAGGCTTCCGG TCTCCCCACCTGTGGAAGAAGTCCAGCACGCTGACCAGCAGCCGCCTAGCCACCGGCGAGGAGGAGGGCGGTGGCAGCTCCAGCAAGCGC TTCCTGCGCTCTTGCTCCGCCTCCTGCGTTCCCCATGGGGCCAAGGACACGGAGTGGAGGTCAGTCACGCTGCCTCGGGACTTGCAGTCC ACGGGAAGACAGTTTGACTCGTCCACATTTGGAGGGCACAAAAGTGAGAAGCCGGCTCTGCCTCGGAAGAGGGCAGGGGAGAACAGGTCT GACCAGGTGACCCGAGGCACAGTAACGCCTCCCCCCAGGCTGGTGAAAAAGAATGAGGAAGCTGCTGATGAGGTCTTCAAAGACATCATG GAGTCCAGCCCGGGCTCCAGCCCGCCCAACCTGACTCCAAAACCCCTCCGGCGGCAGGTCACCGTGGCCCCTGCCTCGGGCCTCCCCCAC AAGGAAGAAGCTGGAAAGGGCAGTGCCTTAGGGACCCCTGCTGCAGCTGAGCCAGTGACCCCCACCAGCAAAGCAGGCTCAGGTGCACCA GGGGGCACCAGCAAGGGCCCCGCCGAGGAGTCCAGAGTGAGGAGGCACAAGCACTCCTCTGAGTCGCCAGGGAGGGACAAGGGGAAATTG TCCAGGCTCAAACCTGCCCCGCCGCCCCCACCAGCAGCCTCTGCAGGGAAGGCTGGAGGAAAGCCCTCGCAGAGCCCGAGCCAGGAGGCG GCCGGGGAGGCAGTCCTGGGCGCAAAGACAAAAGCCACGAGTCTGGTTGATGCTGTGAACAGTGACGCTGCCAAGCCCAGCCAGCCGGGA GAGGGCCTCAAAAAGCCCGTGCTCCCGGCCACTCCAAAGCCACAGTCCGCCAAGCCGTCGGGGACCCCCATCAGCCCAGCCCCCGTTCCC TCCACGTTGCCATCAGCATCCTCGGCCCTGGCAGGGGACCAGCCGTCTTCCACCGCCTTCATCCCTCTCATATCAACCCGAGTGTCTCTT CGGAAAACCCGCCAGCCTCCAGAGCGGATCGCCAGCGGCGCCATCACCAAGGGCGTGGTCCTGGACAGCACCGAGGCGCTGTGCCTCGCC ATCTCTAGGAACTCCGAGCAGATGGCCAGCCACAGCGCAGTGCTGGAGGCCGGCAAAAACCTCTACACGTTCTGCGTGAGCTATGTGGAT TCCATCCAGCAAATGAGGAACAAGTTTGCCTTCCGAGAGGCCATCAACAAACTGGAGAATAATCTCCGGGAGCTTCAGATCTGCCCGGCG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ETV6_ENST00000396373_chr12_12006495_+_ABL1_ENST00000318560_chr9_133729449_+_6043nt GCGTCCCGGGTCCCCGCGCCGCGCCGCGACCTGCAGACCCCGCCGCCGCGCTCGGGCCCGTCTCCCACGCCCCCGCCGCCCCGCGCGCCC AACTCCGCCGGCCGCCCCGCCCCGCCCCGCGCGCTCCAGACCCCCGGGGCGGCTGCCGGGAGAGATGCTGGAAGAAACTTCTTAAATGAC CGCGTCTGGCTGGCCGTGGAGCCTTTCTGGGTTGGGGAGAGGAAAGGAAAGTGGAAAAAACCTGAGAACTTCCTGATCTCTCTCGCTGTG AGACATGTCTGAGACTCCTGCTCAGTGTAGCATTAAGCAGGAACGAATTTCATATACACCTCCAGAGAGCCCAGTGCCGAGTTACGCTTC CTCGACGCCACTTCATGTTCCAGTGCCTCGAGCGCTCAGGATGGAGGAAGACTCGATCCGCCTGCCTGCGCACCTGCGCTTGCAGCCAAT TTACTGGAGCAGGGATGACGTAGCCCAGTGGCTCAAGTGGGCTGAAAATGAGTTTTCTTTAAGGCCAATTGACAGCAACACGTTTGAAAT GAATGGCAAAGCTCTCCTGCTGCTGACCAAAGAGGACTTTCGCTATCGATCTCCTCATTCAGGTGATGTGCTCTATGAACTCCTTCAGCA TATTCTGAAGCAGAGGAAACCTCGGATTCTTTTTTCACCATTCTTCCACCCTGGAAACTCTATACACACACAGCCGGAGGTCATACTGCA TCAGAACCATGAAGAAGAAGCCCTTCAGCGGCCAGTAGCATCTGACTTTGAGCCTCAGGGTCTGAGTGAAGCCGCTCGTTGGAACTCCAA GGAAAACCTTCTCGCTGGACCCAGTGAAAATGACCCCAACCTTTTCGTTGCACTGTATGATTTTGTGGCCAGTGGAGATAACACTCTAAG CATAACTAAAGGTGAAAAGCTCCGGGTCTTAGGCTATAATCACAATGGGGAATGGTGTGAAGCCCAAACCAAAAATGGCCAAGGCTGGGT CCCAAGCAACTACATCACGCCAGTCAACAGTCTGGAGAAACACTCCTGGTACCATGGGCCTGTGTCCCGCAATGCCGCTGAGTATCTGCT GAGCAGCGGGATCAATGGCAGCTTCTTGGTGCGTGAGAGTGAGAGCAGTCCTGGCCAGAGGTCCATCTCGCTGAGATACGAAGGGAGGGT GTACCATTACAGGATCAACACTGCTTCTGATGGCAAGCTCTACGTCTCCTCCGAGAGCCGCTTCAACACCCTGGCCGAGTTGGTTCATCA TCATTCAACGGTGGCCGACGGGCTCATCACCACGCTCCATTATCCAGCCCCAAAGCGCAACAAGCCCACTGTCTATGGTGTGTCCCCCAA CTACGACAAGTGGGAGATGGAACGCACGGACATCACCATGAAGCACAAGCTGGGCGGGGGCCAGTACGGGGAGGTGTACGAGGGCGTGTG GAAGAAATACAGCCTGACGGTGGCCGTGAAGACCTTGAAGGAGGACACCATGGAGGTGGAAGAGTTCTTGAAAGAAGCTGCAGTCATGAA AGAGATCAAACACCCTAACCTGGTGCAGCTCCTTGGGGTCTGCACCCGGGAGCCCCCGTTCTATATCATCACTGAGTTCATGACCTACGG GAACCTCCTGGACTACCTGAGGGAGTGCAACCGGCAGGAGGTGAACGCCGTGGTGCTGCTGTACATGGCCACTCAGATCTCGTCAGCCAT GGAGTACCTGGAGAAGAAAAACTTCATCCACAGAGATCTTGCTGCCCGAAACTGCCTGGTAGGGGAGAACCACTTGGTGAAGGTAGCTGA TTTTGGCCTGAGCAGGTTGATGACAGGGGACACCTACACAGCCCATGCTGGAGCCAAGTTCCCCATCAAATGGACTGCACCCGAGAGCCT GGCCTACAACAAGTTCTCCATCAAGTCCGACGTCTGGGCATTTGGAGTATTGCTTTGGGAAATTGCTACCTATGGCATGTCCCCTTACCC GGGAATTGACCTGTCCCAGGTGTATGAGCTGCTAGAGAAGGACTACCGCATGGAGCGCCCAGAAGGCTGCCCAGAGAAGGTCTATGAACT CATGCGAGCATGTTGGCAGTGGAATCCCTCTGACCGGCCCTCCTTTGCTGAAATCCACCAAGCCTTTGAAACAATGTTCCAGGAATCCAG TATCTCAGACGAAGTGGAAAAGGAGCTGGGGAAACAAGGCGTCCGTGGGGCTGTGAGTACCTTGCTGCAGGCCCCAGAGCTGCCCACCAA GACGAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAAGGGCCAGGGAGAGAGCGATCC TCTGGACCATGAGCCTGCCGTGTCTCCATTGCTCCCTCGAAAAGAGCGAGGTCCCCCGGAGGGCGGCCTGAATGAAGATGAGCGCCTTCT CCCCAAAGACAAAAAGACCAACTTGTTCAGCGCCTTGATCAAGAAGAAGAAGAAGACAGCCCCAACCCCTCCCAAACGCAGCAGCTCCTT CCGGGAGATGGACGGCCAGCCGGAGCGCAGAGGGGCCGGCGAGGAAGAGGGCCGAGACATCAGCAACGGGGCACTGGCTTTCACCCCCTT GGACACAGCTGACCCAGCCAAGTCCCCAAAGCCCAGCAATGGGGCTGGGGTCCCCAATGGAGCCCTCCGGGAGTCCGGGGGCTCAGGCTT CCGGTCTCCCCACCTGTGGAAGAAGTCCAGCACGCTGACCAGCAGCCGCCTAGCCACCGGCGAGGAGGAGGGCGGTGGCAGCTCCAGCAA GCGCTTCCTGCGCTCTTGCTCCGCCTCCTGCGTTCCCCATGGGGCCAAGGACACGGAGTGGAGGTCAGTCACGCTGCCTCGGGACTTGCA GTCCACGGGAAGACAGTTTGACTCGTCCACATTTGGAGGGCACAAAAGTGAGAAGCCGGCTCTGCCTCGGAAGAGGGCAGGGGAGAACAG GTCTGACCAGGTGACCCGAGGCACAGTAACGCCTCCCCCCAGGCTGGTGAAAAAGAATGAGGAAGCTGCTGATGAGGTCTTCAAAGACAT CATGGAGTCCAGCCCGGGCTCCAGCCCGCCCAACCTGACTCCAAAACCCCTCCGGCGGCAGGTCACCGTGGCCCCTGCCTCGGGCCTCCC CCACAAGGAAGAAGCTGGAAAGGGCAGTGCCTTAGGGACCCCTGCTGCAGCTGAGCCAGTGACCCCCACCAGCAAAGCAGGCTCAGGTGC ACCAGGGGGCACCAGCAAGGGCCCCGCCGAGGAGTCCAGAGTGAGGAGGCACAAGCACTCCTCTGAGTCGCCAGGGAGGGACAAGGGGAA ATTGTCCAGGCTCAAACCTGCCCCGCCGCCCCCACCAGCAGCCTCTGCAGGGAAGGCTGGAGGAAAGCCCTCGCAGAGCCCGAGCCAGGA GGCGGCCGGGGAGGCAGTCCTGGGCGCAAAGACAAAAGCCACGAGTCTGGTTGATGCTGTGAACAGTGACGCTGCCAAGCCCAGCCAGCC GGGAGAGGGCCTCAAAAAGCCCGTGCTCCCGGCCACTCCAAAGCCACAGTCCGCCAAGCCGTCGGGGACCCCCATCAGCCCAGCCCCCGT TCCCTCCACGTTGCCATCAGCATCCTCGGCCCTGGCAGGGGACCAGCCGTCTTCCACCGCCTTCATCCCTCTCATATCAACCCGAGTGTC TCTTCGGAAAACCCGCCAGCCTCCAGAGCGGATCGCCAGCGGCGCCATCACCAAGGGCGTGGTCCTGGACAGCACCGAGGCGCTGTGCCT CGCCATCTCTAGGAACTCCGAGCAGATGGCCAGCCACAGCGCAGTGCTGGAGGCCGGCAAAAACCTCTACACGTTCTGCGTGAGCTATGT GGATTCCATCCAGCAAATGAGGAACAAGTTTGCCTTCCGAGAGGCCATCAACAAACTGGAGAATAATCTCCGGGAGCTTCAGATCTGCCC GGCGACAGCAGGCAGTGGTCCAGCGGCCACTCAGGACTTCAGCAAGCTCCTCAGTTCGGTGAAGGAAATCAGTGACATAGTGCAGAGGTA GCAGCAGTCAGGGGTCAGGTGTCAGGCCCGTCGGAGCTGCCTGCAGCACATGCGGGCTCGCCCATACCCGTGACAGTGGCTGACAAGGGA CTAGTGAGTCAGCACCTTGGCCCAGGAGCTCTGCGCCAGGCAGAGCTGAGGGCCCTGTGGAGTCCAGCTCTACTACCTACGTTTGCACCG CCTGCCCTCCCGCACCTTCCTCCTCCCCGCTCCGTCTCTGTCCTCGAATTTTATCTGTGGAGTTCCTGCTCCGTGGACTGCAGTCGGCAT GCCAGGACCCGCCAGCCCCGCTCCCACCTAGTGCCCCAGACTGAGCTCTCCAGGCCAGGTGGGAACGGCTGATGTGGACTGTCTTTTTCA TTTTTTTCTCTCTGGAGCCCCTCCTCCCCCGGCTGGGCCTCCTTCTTCCACTTCTCCAAGAATGGAAGCCTGAACTGAGGCCTTGTGTGT CAGGCCCTCTGCCTGCACTCCCTGGCCTTGCCCGTCGTGTGCTGAAGACATGTTTCAAGAACCGCATTTCGGGAAGGGCATGCACGGGCA TGCACACGGCTGGTCACTCTGCCCTCTGCTGCTGCCCGGGGTGGGGTGCACTCGCCATTTCCTCACGTGCAGGACAGCTCTTGATTTGGG TGGAAAACAGGGTGCTAAAGCCAACCAGCCTTTGGGTCCTGGGCAGGTGGGAGCTGAAAAGGATCGAGGCATGGGGCATGTCCTTTCCAT CTGTCCACATCCCCAGAGCCCAGCTCTTGCTCTCTTGTGACGTGCACTGTGAATCCTGGCAAGAAAGCTTGAGTCTCAAGGGTGGCAGGT CACTGTCACTGCCGACATCCCTCCCCCAGCAGAATGGAGGCAGGGGACAAGGGAGGCAGTGGCTAGTGGGGTGAACAGCTGGTGCCAAAT AGCCCCAGACTGGGCCCAGGCAGGTCTGCAAGGGCCCAGAGTGAACCGTCCTTTCACACATCTGGGTGCCCTGAAAGGGCCCTTCCCCTC CCCCACTCCTCTAAGACAAAGTAGATTCTTACAAGGCCCTTTCCTTTGGAACAAGACAGCCTTCACTTTTCTGAGTTCTTGAAGCATTTC AAAGCCCTGCCTCTGTGTAGCCGCCCTGAGAGAGAATAGAGCTGCCACTGGGCACCTGCGCACAGGTGGGAGGAAAGGGCCTGGCCAGTC CTGGTCCTGGCTGCACTCTTGAACTGGGCGAATGTCTTATTTAATTACCGTGAGTGACATAGCCTCATGTTCTGTGGGGGTCATCAGGGA GGGTTAGGAAAACCACAAACGGAGCCCCTGAAAGCCTCACGTATTTCACAGAGCACGCCTGCCATCTTCTCCCCGAGGCTGCCCCAGGCC GGAGCCCAGATACGGGGGCTGTGACTCTGGGCAGGGACCCGGGGTCTCCTGGACCTTGACAGAGCAGCTAACTCCGAGAGCAGTGGGCAG GTGGCCGCCCCTGAGGCTTCACGCCGGGAGAAGCCACCTTCCCACCCCTTCATACCGCCTCGTGCCAGCAGCCTCGCACAGGCCCTAGCT TTACGCTCATCACCTAAACTTGTACTTTATTTTTCTGATAGAAATGGTTTCCTCTGGATCGTTTTATGCGGTTCTTACAGCACATCACCT CTTTGCCCCCGACGGCTGTGACGCAGCCGGAGGGAGGCACTAGTCACCGACAGCGGCCTTGAAGACAGAGCAAAGCGCCCACCCAGGTCC CCCGACTGCCTGTCTCCATGAGGTACTGGTCCCTTCCTTTTGTTAACGTGATGTGCCACTATATTTTACACGTATCTCTTGGTATGCATC TTTTATAGACGCTCTTTTCTAAGTGGCGTGTGCATAGCGTCCTGCCCTGCCCCCTCGGGGGCCTGTGGTGGCTCCCCCTCTGCTTCTCGG GGTCCAGTGCATTTTGTTTCTGTATATGATTCTCTGTGGTTTTTTTTGAATCCAAATCTGTCCTCTGTAGTATTTTTTAAATAAATCAGT |
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FusionGenePPI for ETV6_ABL1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| ETV6 | KAT5, GAB2, ETV6, GRB2, CRKL, ACTA1, HDAC9, FLI1, FBXL6, SKP1, L3MBTL1, IRF8, NCOR1, SIN3A, HDAC3, UBE2I, ELAVL1, PDGFRB, SUMO1, SOCS1, SOCS3, TRAF3, SOX2, HDAC6, PIN1, AP1M1, WDYHV1, LRP6, LRP5, NID2, ETV7, USP7, VPS26B, NFATC2 | 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 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ETV6_ABL1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | ABL1 | P00519 | DB00619 | Imatinib | Tyrosine-protein kinase ABL1 | small molecule | approved |
| Tgene | ABL1 | P00519 | DB06616 | Bosutinib | Tyrosine-protein kinase ABL1 | small molecule | approved |
| Tgene | ABL1 | P00519 | DB08896 | Regorafenib | Tyrosine-protein kinase ABL1 | small molecule | approved |
| Tgene | ABL1 | P00519 | DB01254 | Dasatinib | Tyrosine-protein kinase ABL1 | small molecule | approved|investigational |
| Tgene | ABL1 | P00519 | DB04868 | Nilotinib | Tyrosine-protein kinase ABL1 | small molecule | approved|investigational |
| Tgene | ABL1 | P00519 | DB08901 | Ponatinib | Tyrosine-protein kinase ABL1 | small molecule | approved|investigational |
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RelatedDiseases for ETV6_ABL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ETV6 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 3 | CTD_human |
| Hgene | ETV6 | C0040034 | Thrombocytopenia | 2 | CTD_human;HPO |
| Hgene | ETV6 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Hgene | ETV6 | C0376545 | Hematologic Neoplasms | 1 | CTD_human |
| Hgene | ETV6 | C1838656 | Macrocytosis, Familial | 1 | CTD_human |
| Hgene | ETV6 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
| Hgene | ETV6 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Hgene | ETV6 | C4015537 | THROMBOCYTOPENIA 5 | 1 | UNIPROT |
| Tgene | ABL1 | C0023473 | Myeloid Leukemia, Chronic | 3 | CTD_human;ORPHANET |
| Tgene | ABL1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CTD_human |
| Tgene | ABL1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | ABL1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | ABL1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | ABL1 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
| Tgene | ABL1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Tgene | ABL1 | C0596263 | Carcinogenesis | 1 | CTD_human |
| Tgene | ABL1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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