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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:ETV6-ABL1 (FusionGDB2 ID:27659) |
Fusion Gene Summary for ETV6-ABL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ETV6-ABL1 | Fusion gene ID: 27659 | Hgene | Tgene | Gene symbol | ETV6 | ABL1 | Gene ID | 2120 | 25 |
| Gene name | ETS variant transcription factor 6 | ABL proto-oncogene 1, non-receptor tyrosine kinase | |
| Synonyms | TEL|TEL/ABL|THC5 | ABL|BCR-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 variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene) | tyrosine-protein kinase ABL1ABL protooncogene 1 nonreceptor tyrosine kinaseAbelson tyrosine-protein kinase 1bcr/c-abl oncogene proteinc-abl oncogene 1, receptor tyrosine kinaseproto-oncogene c-Ablproto-oncogene tyrosine-protein kinase ABL1truncated | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | P41212 | P00519 | |
| Ensembl transtripts involved in fusion gene | ENST00000396373, ENST00000544715, | ENST00000318560, | |
| Fusion gene scores | * DoF score | 59 X 37 X 25=54575 | 21 X 149 X 8=25032 |
| # samples | 58 | 154 | |
| ** MAII score | log2(58/54575*10)=-6.55604351475058 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(154/25032*10)=-4.02277130765866 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] | ||
| Most frequent breakpoint | ETV6(12006495)-ABL1(133729449), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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:0071103 | DNA conformation change | 9558345 |
| 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 breakpoints across ETV6 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across ABL1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | acute undifferentiated leukemia;acute myeloid leukemia;acute myeloblastic leukemia;acute myeloblastic leukemia with maturation;chronic myeloid leukemia;atypical chronic myeloid leukemia; acute lymphoblastic leukemia/lymphoblastic lymphoma;de novo acute no | Z35761 | ETV6 | chr12 | 12006495 | ABL1 | chr9 | 133729449 | ||
| ChiTaRS5.0 | N/A | Z35761 | ETV6 | chr12 | 12006495 | + | ABL1 | chr9 | 133729449 | + |
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Fusion Gene ORF analysis for ETV6-ABL1 |
| 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 | ||
| In-frame | ENST00000396373 | ENST00000318560 | ETV6 | chr12 | 12006495 | + | ABL1 | chr9 | 133729449 | + |
| intron-3CDS | ENST00000544715 | ENST00000318560 | ETV6 | chr12 | 12006495 | + | ABL1 | chr9 | 133729449 | + |
| In-frame | ENST00000396373 | ENST00000318560 | ETV6 | chr12 | 12022903 | + | ABL1 | chr9 | 133729450 | + |
| intron-3CDS | ENST00000544715 | ENST00000318560 | ETV6 | chr12 | 12022903 | + | ABL1 | chr9 | 133729450 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000396373 | ETV6 | chr12 | 12006495 | ENST00000318560 | ABL1 | chr9 | 133729449 | 6043 | 737 | 274 | 4050 | 1258 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000396373 | ENST00000318560 | ETV6 | chr12 | 12006495 | ABL1 | chr9 | 133729449 | 0.002629901 | 0.9973701 |
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Fusion Genomic Features for ETV6-ABL1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| ETV6 | chr12 | 12006495 | + | ABL1 | chr9 | 133729450 | + | 3.95E-09 | 1 |
| ETV6 | chr12 | 12006495 | + | ABL1 | chr9 | 133729450 | + | 3.95E-09 | 1 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for ETV6-ABL1 |
| Go to FGviewer for the breakpoints of chr12:12006495-chr9:133729449 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ETV6 | ABL1 |
| FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}. | FUNCTION: Non-receptor tyrosine-protein kinase that plays a role in many key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion, receptor endocytosis, autophagy, DNA damage response and apoptosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics 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-binding proteins). Phosphorylation of WASF3 is critical for the stimulation of lamellipodia formation and cell migration. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as BCAR1, CRK, CRKL, DOK1, EFS or NEDD9. Phosphorylates multiple receptor tyrosine kinases and more particularly promotes endocytosis of EGFR, facilitates the formation of neuromuscular synapses through MUSK, inhibits PDGFRB-mediated chemotaxis and modulates the endocytosis of activated B-cell receptor complexes. Other substrates which are involved in endocytosis regulation are the caveolin (CAV1) and RIN1. Moreover, ABL1 regulates the CBL family of ubiquitin ligases that drive receptor down-regulation and actin remodeling. Phosphorylation of CBL leads to increased EGFR stability. Involved in late-stage autophagy by regulating positively the trafficking and function of lysosomal components. ABL1 targets to mitochondria in response to oxidative stress and thereby mediates mitochondrial dysfunction and cell death. In response to oxidative stress, phosphorylates serine/threonine kinase PRKD2 at 'Tyr-717' (PubMed:28428613). ABL1 is also translocated in the nucleus where it has DNA-binding activity and is involved in DNA-damage response and apoptosis. Many substrates are known mediators of DNA repair: DDB1, DDB2, ERCC3, ERCC6, RAD9A, RAD51, RAD52 or WRN. Activates the proapoptotic pathway when the DNA damage is too severe to be repaired. Phosphorylates TP73, a primary regulator for this type of damage-induced apoptosis. Phosphorylates the caspase CASP9 on 'Tyr-153' and regulates its processing in the apoptotic response to DNA damage. Phosphorylates PSMA7 that leads to an inhibition of proteasomal activity and cell cycle transition blocks. ABL1 acts also as a regulator of multiple pathological signaling cascades during infection. Several known tyrosine-phosphorylated microbial proteins have been identified as ABL1 substrates. This is the case of A36R of Vaccinia virus, Tir (translocated intimin receptor) of pathogenic E.coli and possibly Citrobacter, CagA (cytotoxin-associated gene A) of H.pylori, or AnkA (ankyrin repeat-containing protein A) of A.phagocytophilum. Pathogens can highjack ABL1 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. Regulates T-cell differentiation in a TBX21-dependent manner. Phosphorylates TBX21 on tyrosine residues leading to an enhancement of its transcriptional activator activity (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 | 154.33333333333334 | 453.0 | Domain | PNT |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 605_609 | 26.333333333333332 | 1131.0 | Compositional bias | Note=Poly-Lys | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 782_1019 | 26.333333333333332 | 1131.0 | Compositional bias | Note=Pro-rich | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 897_903 | 26.333333333333332 | 1131.0 | Compositional bias | Note=Poly-Pro | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 127_217 | 26.333333333333332 | 1131.0 | Domain | SH2 | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 242_493 | 26.333333333333332 | 1131.0 | Domain | Protein kinase | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 61_121 | 26.333333333333332 | 1131.0 | Domain | SH3 | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 1090_1100 | 26.333333333333332 | 1131.0 | Motif | Nuclear export signal | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 381_405 | 26.333333333333332 | 1131.0 | Motif | Note=Kinase activation loop | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 709_715 | 26.333333333333332 | 1131.0 | Motif | Nuclear localization signal 2 | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 762_769 | 26.333333333333332 | 1131.0 | Motif | Nuclear localization signal 3 | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 248_256 | 26.333333333333332 | 1131.0 | Nucleotide binding | Note=ATP | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 316_322 | 26.333333333333332 | 1131.0 | Nucleotide binding | Note=ATP | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 869_968 | 26.333333333333332 | 1131.0 | Region | DNA-binding | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 953_1130 | 26.333333333333332 | 1131.0 | 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 | 154.33333333333334 | 453.0 | DNA binding | ETS |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 18_22 | 26.333333333333332 | 1131.0 | Compositional bias | Note=Poly-Ser | |
| Tgene | ABL1 | chr12:12006495 | chr9:133729449 | ENST00000318560 | 0 | 11 | 1_60 | 26.333333333333332 | 1131.0 | Region | Note=CAP |
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Fusion Gene Sequence for ETV6-ABL1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >In-frame_ENST00000396373_ENST00000318560_Z35761_ETV6_chr12_12006495__ABL1_chr9_133729449_length(transcript)=6043nt_BP=737nt 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 >In-frame_ENST00000396373_ENST00000318560_Z35761_ETV6_chr12_12006495__ABL1_chr9_133729449_length(amino acids)=1258AA_start in transcript=274_stop in transcript=4050 MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN GKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEEALQRPVASDFEPQGLSEAARWNSKE NLLAGPSENDPNLFVALYDFVASGDNTLSITKGEKLRVLGYNHNGEWCEAQTKNGQGWVPSNYITPVNSLEKHSWYHGPVSRNAAEYLLS SGINGSFLVRESESSPGQRSISLRYEGRVYHYRINTASDGKLYVSSESRFNTLAELVHHHSTVADGLITTLHYPAPKRNKPTVYGVSPNY DKWEMERTDITMKHKLGGGQYGEVYEGVWKKYSLTVAVKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQLLGVCTREPPFYIITEFMTYGN LLDYLRECNRQEVNAVVLLYMATQISSAMEYLEKKNFIHRDLAARNCLVGENHLVKVADFGLSRLMTGDTYTAHAGAKFPIKWTAPESLA YNKFSIKSDVWAFGVLLWEIATYGMSPYPGIDLSQVYELLEKDYRMERPEGCPEKVYELMRACWQWNPSDRPSFAEIHQAFETMFQESSI SDEVEKELGKQGVRGAVSTLLQAPELPTKTRTSRRAAEHRDTTDVPEMPHSKGQGESDPLDHEPAVSPLLPRKERGPPEGGLNEDERLLP KDKKTNLFSALIKKKKKTAPTPPKRSSSFREMDGQPERRGAGEEEGRDISNGALAFTPLDTADPAKSPKPSNGAGVPNGALRESGGSGFR SPHLWKKSSTLTSSRLATGEEEGGGSSSKRFLRSCSASCVPHGAKDTEWRSVTLPRDLQSTGRQFDSSTFGGHKSEKPALPRKRAGENRS DQVTRGTVTPPPRLVKKNEEAADEVFKDIMESSPGSSPPNLTPKPLRRQVTVAPASGLPHKEEAGKGSALGTPAAAEPVTPTSKAGSGAP GGTSKGPAEESRVRRHKHSSESPGRDKGKLSRLKPAPPPPPAASAGKAGGKPSQSPSQEAAGEAVLGAKTKATSLVDAVNSDAAKPSQPG EGLKKPVLPATPKPQSAKPSGTPISPAPVPSTLPSASSALAGDQPSSTAFIPLISTRVSLRKTRQPPERIASGAITKGVVLDSTEALCLA -------------------------------------------------------------- |
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Fusion Gene PPI Analysis 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 |
| - 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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Related Drugs for ETV6-ABL1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | ABL1 | P00519 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
| Tgene | ABL1 | P00519 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
| Tgene | ABL1 | P00519 | DB00619 | Imatinib | Inhibitor | Small molecule | Approved |
| Tgene | ABL1 | P00519 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
| Tgene | ABL1 | P00519 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
| Tgene | ABL1 | P00519 | DB06616 | Bosutinib | Inhibitor | Small molecule | Approved |
| Tgene | ABL1 | P00519 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
| Tgene | ABL1 | P00519 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
| Tgene | ABL1 | P00519 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
| Tgene | ABL1 | P00519 | DB01254 | Dasatinib | Multitarget | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB01254 | Dasatinib | Multitarget | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB01254 | Dasatinib | Multitarget | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB04868 | Nilotinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB04868 | Nilotinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB04868 | Nilotinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB08901 | Ponatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB12267 | Brigatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB12267 | Brigatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | ABL1 | P00519 | DB12267 | Brigatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for ETV6-ABL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ETV6 | C4015537 | THROMBOCYTOPENIA 5 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | ETV6 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 3 | CTD_human |
| Hgene | ETV6 | C0040034 | Thrombocytopenia | 3 | CTD_human;GENOMICS_ENGLAND |
| Hgene | ETV6 | C0023480 | Leukemia, Myelomonocytic, Chronic | 2 | ORPHANET |
| Hgene | ETV6 | C1332965 | Congenital Mesoblastic Nephroma | 2 | ORPHANET |
| Hgene | ETV6 | C0006413 | Burkitt Lymphoma | 1 | ORPHANET |
| Hgene | ETV6 | C0013146 | Drug abuse | 1 | CTD_human |
| Hgene | ETV6 | C0013170 | Drug habituation | 1 | CTD_human |
| Hgene | ETV6 | C0013222 | Drug Use Disorders | 1 | CTD_human |
| Hgene | ETV6 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
| Hgene | ETV6 | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
| Hgene | ETV6 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CGI;CTD_human;GENOMICS_ENGLAND |
| Hgene | ETV6 | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human |
| Hgene | ETV6 | C0038580 | Substance Dependence | 1 | CTD_human |
| Hgene | ETV6 | C0038586 | Substance Use Disorders | 1 | CTD_human |
| Hgene | ETV6 | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
| Hgene | ETV6 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Hgene | ETV6 | C0238463 | Papillary thyroid carcinoma | 1 | ORPHANET |
| Hgene | ETV6 | C0376544 | Hematopoietic Neoplasms | 1 | CTD_human |
| Hgene | ETV6 | C0376545 | Hematologic Neoplasms | 1 | CTD_human |
| Hgene | ETV6 | C0740858 | Substance abuse problem | 1 | CTD_human |
| Hgene | ETV6 | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
| Hgene | ETV6 | C1510472 | Drug Dependence | 1 | CTD_human |
| Hgene | ETV6 | C1832388 | Platelet Disorder, Familial, with Associated Myeloid Malignancy | 1 | ORPHANET |
| 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 | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
| Hgene | ETV6 | C4316881 | Prescription Drug Abuse | 1 | CTD_human |
| Hgene | ETV6 | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
| Hgene | ETV6 | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |
| Tgene | ABL1 | C0023473 | Myeloid Leukemia, Chronic | 3 | CGI;CTD_human;ORPHANET |
| Tgene | ABL1 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 2 | CTD_human |
| Tgene | ABL1 | C0023453 | L2 Acute Lymphoblastic Leukemia | 2 | CTD_human |
| Tgene | ABL1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CGI;CTD_human |
| Tgene | ABL1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | ABL1 | C0003706 | Arachnodactyly | 1 | GENOMICS_ENGLAND |
| Tgene | ABL1 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| Tgene | ABL1 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
| Tgene | ABL1 | C0006413 | Burkitt Lymphoma | 1 | ORPHANET |
| Tgene | ABL1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | ABL1 | C0015544 | Failure to Thrive | 1 | CTD_human |
| Tgene | ABL1 | C0018798 | Congenital Heart Defects | 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 | C0039075 | Syndactyly | 1 | GENOMICS_ENGLAND |
| Tgene | ABL1 | C0151491 | Congenital musculoskeletal anomalies | 1 | CTD_human |
| Tgene | ABL1 | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human |
| Tgene | ABL1 | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human |
| Tgene | ABL1 | C0205643 | Carcinoma, Cribriform | 1 | CTD_human |
| Tgene | ABL1 | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human |
| Tgene | ABL1 | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human |
| Tgene | ABL1 | C0265610 | Clinodactyly of fingers | 1 | GENOMICS_ENGLAND |
| Tgene | ABL1 | C0282313 | Condition, Preneoplastic | 1 | CTD_human |
| Tgene | ABL1 | C0345904 | Malignant neoplasm of liver | 1 | CTD_human |
| Tgene | ABL1 | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human |
| Tgene | ABL1 | C0596263 | Carcinogenesis | 1 | CTD_human |
| Tgene | ABL1 | C0678222 | Breast Carcinoma | 1 | CTD_human |
| Tgene | ABL1 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Tgene | ABL1 | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
| Tgene | ABL1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | ABL1 | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CGI;ORPHANET |
| Tgene | ABL1 | C4539857 | CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME | 1 | GENOMICS_ENGLAND;UNIPROT |
| Tgene | ABL1 | C4551485 | Clinodactyly | 1 | GENOMICS_ENGLAND |
| Tgene | ABL1 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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