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Fusion Protein:ETS1-CBL |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ETS1-CBL | FusionPDB ID: 27669 | FusionGDB2.0 ID: 27669 | Hgene | Tgene | Gene symbol | ETS1 | CBL | Gene ID | 2113 | 867 |
| Gene name | ETS proto-oncogene 1, transcription factor | Cbl proto-oncogene | |
| Synonyms | ETS-1|EWSR2|c-ets-1|p54 | C-CBL|CBL2|FRA11B|NSLL|RNF55 | |
| Cytomap | 11q24.3 | 11q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein C-ets-1Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1v-ets avian erythroblastosis virus E2 oncogene homolog 1v-ets avian erythroblastosis virus E26 oncogene homolog 1 | E3 ubiquitin-protein ligase CBLCas-Br-M (murine) ecotropic retroviral transforming sequenceCbl proto-oncogene, E3 ubiquitin protein ligaseRING finger protein 55RING-type E3 ubiquitin transferase CBLcasitas B-lineage lymphoma proto-oncogenefragile si | |
| Modification date | 20200322 | 20200327 | |
| UniProtAcc | P14921 | Q8IUK8 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000319397, ENST00000392668, ENST00000526145, ENST00000531611, ENST00000345075, ENST00000525404, ENST00000535549, | ENST00000264033, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 5 X 6 X 3=90 | 11 X 14 X 7=1078 |
| # samples | 6 | 12 | |
| ** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/1078*10)=-3.16725086714399 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ETS1 [Title/Abstract] AND CBL [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ETS1(128354717)-CBL(119142444), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ETS1-CBL seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ETS1-CBL seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ETS1-CBL seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ETS1-CBL seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ETS1-CBL seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ETS1-CBL seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. ETS1-CBL seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. ETS1-CBL seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. | ||
| * 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 | ETS1 | GO:0030578 | PML body organization | 11909962|15247905 |
| Hgene | ETS1 | GO:0045648 | positive regulation of erythrocyte differentiation | 8620536 |
| Hgene | ETS1 | GO:0045893 | positive regulation of transcription, DNA-templated | 11909962 |
| Hgene | ETS1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15001984|15247905 |
| Hgene | ETS1 | GO:0050729 | positive regulation of inflammatory response | 21310411 |
| Hgene | ETS1 | GO:0061614 | pri-miRNA transcription by RNA polymerase II | 21711453 |
| Fusion gene breakpoints across ETS1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across CBL (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 | STAD | TCGA-BR-8366 | ETS1 | chr11 | 128354717 | - | CBL | chr11 | 119142444 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000345075 | ETS1 | chr11 | 128354717 | - | ENST00000264033 | CBL | chr11 | 119142444 | + | 11696 | 1050 | 280 | 3327 | 1015 |
| 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 |
| ENST00000345075 | ENST00000264033 | ETS1 | chr11 | 128354717 | - | CBL | chr11 | 119142444 | + | 0.000157215 | 0.99984276 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >27669_27669_1_ETS1-CBL_ETS1_chr11_128354717_ENST00000345075_CBL_chr11_119142444_ENST00000264033_length(amino acids)=1015AA_BP=256 MLPSRTSPTPGTMKAAVDLKPTLTIIKTEKVDLELFPSPDMECADVPLLTPSSKEMMSQALKATFSGFTKEQQRLGIPKDPRQWTETHVR DWVMWAVNEFSLKGVDFQKFCMNGAALCALGKDCFLELAPDFVGDILWEHLEILQKEDVKPYQVNGVNPAYPESRYTSDYFISYGIEHAQ CVPPSEFSEPSFITESYQTLHPISSEELLSLKYENDYPSVILRDPLQTDTLQNDYFAIKQEVVTPDNMCMGRTSRGRRNLTKLSLIFSHM LAELKGIFPSGLFQGDTFRITKADAAEFWRKAFGEKTIVPWKSFRQALHEVHPISSGLEAMALKSTIDLTCNDYISVFEFDIFTRLFQPW SSLLRNWNSLAVTHPGYMAFLTYDEVKARLQKFIHKPGSYIFRLSCTRLGQWAIGYVTADGNILQTIPHNKPLFQALIDGFREGFYLFPD GRNQNPDLTGLCEPTPQDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLMCTSCLTSWQESEGQGCPFCRCEIKGTEPIVV DPFDPRGSGSLLRQGAEGAPSPNYDDDDDERADDTLFMMKELAGAKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASK AASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVGAESRPQRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTG RELTNRHSLPFSLPSQMEPRPDVPRLGSTFSLDTSMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYM TPSSRPLRPLDTSQSSRACDCDQQIDSCTYEAMYNIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLS DISNASSSFGWLSLDGDPTTNVTEGSQVPERPPKPFPRRINSERKAGSCQQGSGPAASAATASPQLSSEIENLMSQGYSYQDIQKALVIA -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:128354717/chr11:119142444) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ETS1 | CBL |
| FUNCTION: Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion. {ECO:0000269|PubMed:10698492, ECO:0000269|PubMed:11909962, ECO:0000269|PubMed:15247905, ECO:0000269|PubMed:15592518}. | FUNCTION: Acts as a synaptic organizer in specific subsets of neurons in the brain (By similarity). Essential for long-term maintenance but not establishment of excitatory synapses (By similarity). {ECO:0000250|UniProtKB:Q8BGU2}. |
| 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. |
| - 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 | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000319397 | - | 5 | 8 | 51_136 | 243.33333333333334 | 442.0 | Domain | PNT |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000345075 | - | 5 | 7 | 51_136 | 244.66666666666666 | 355.0 | Domain | PNT |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000392668 | - | 7 | 10 | 51_136 | 287.3333333333333 | 486.0 | Domain | PNT |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000526145 | - | 5 | 7 | 51_136 | 243.33333333333334 | 355.0 | Domain | PNT |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000319397 | - | 5 | 8 | 130_243 | 243.33333333333334 | 442.0 | Region | Note=Activation domain%3B required for transcription activation |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000345075 | - | 5 | 7 | 130_243 | 244.66666666666666 | 355.0 | Region | Note=Activation domain%3B required for transcription activation |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000392668 | - | 7 | 10 | 130_243 | 287.3333333333333 | 486.0 | Region | Note=Activation domain%3B required for transcription activation |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000526145 | - | 5 | 7 | 130_243 | 243.33333333333334 | 355.0 | Region | Note=Activation domain%3B required for transcription activation |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 227_240 | 147.66666666666666 | 907.0 | Calcium binding | . | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 357_476 | 147.66666666666666 | 907.0 | Compositional bias | Note=Asp/Glu-rich (acidic) | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 477_688 | 147.66666666666666 | 907.0 | Compositional bias | Note=Pro-rich | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 689_834 | 147.66666666666666 | 907.0 | Compositional bias | Note=Asp/Glu-rich (acidic) | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 856_895 | 147.66666666666666 | 907.0 | Domain | UBA | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 176_248 | 147.66666666666666 | 907.0 | Region | Note=EF-hand-like | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 249_351 | 147.66666666666666 | 907.0 | Region | Note=SH2-like | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 352_380 | 147.66666666666666 | 907.0 | Region | Note=Linker | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 358_906 | 147.66666666666666 | 907.0 | Region | Required for ubiquitination of SPRED2 | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 381_420 | 147.66666666666666 | 907.0 | Zinc finger | RING-type |
| - 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 | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000319397 | - | 5 | 8 | 335_415 | 243.33333333333334 | 442.0 | DNA binding | ETS |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000345075 | - | 5 | 7 | 335_415 | 244.66666666666666 | 355.0 | DNA binding | ETS |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000392668 | - | 7 | 10 | 335_415 | 287.3333333333333 | 486.0 | DNA binding | ETS |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000526145 | - | 5 | 7 | 335_415 | 243.33333333333334 | 355.0 | DNA binding | ETS |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000535549 | - | 1 | 4 | 335_415 | 0 | 226.0 | DNA binding | ETS |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000535549 | - | 1 | 4 | 51_136 | 0 | 226.0 | Domain | PNT |
| Hgene | ETS1 | chr11:128354717 | chr11:119142444 | ENST00000535549 | - | 1 | 4 | 130_243 | 0 | 226.0 | Region | Note=Activation domain%3B required for transcription activation |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 47_351 | 147.66666666666666 | 907.0 | Domain | Cbl-PTB | |
| Tgene | CBL | chr11:128354717 | chr11:119142444 | ENST00000264033 | 1 | 16 | 47_175 | 147.66666666666666 | 907.0 | Region | Note=4H |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| ETS1 | |
| CBL |  |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to ETS1-CBL |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ETS1-CBL |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CBL | C3150803 | NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA | 8 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | CBL | C0349639 | Juvenile Myelomonocytic Leukemia | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Tgene | CBL | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Tgene | CBL | C0010417 | Cryptorchidism | 1 | CTD_human |
| Tgene | CBL | C0018273 | Growth Disorders | 1 | CTD_human |
| Tgene | CBL | C0021364 | Male infertility | 1 | CTD_human |
| Tgene | CBL | C0028326 | Noonan Syndrome | 1 | GENOMICS_ENGLAND |
| Tgene | CBL | C0042384 | Vasculitis | 1 | CTD_human |
| Tgene | CBL | C0085996 | Child Development Deviations | 1 | CTD_human |
| Tgene | CBL | C0085997 | Child Development Disorders, Specific | 1 | CTD_human |
| Tgene | CBL | C0431663 | Bilateral Cryptorchidism | 1 | CTD_human |
| Tgene | CBL | C0431664 | Unilateral Cryptorchidism | 1 | CTD_human |
| Tgene | CBL | C0848676 | Subfertility, Male | 1 | CTD_human |
| Tgene | CBL | C0917731 | Male sterility | 1 | CTD_human |
| Tgene | CBL | C1563730 | Abdominal Cryptorchidism | 1 | CTD_human |
| Tgene | CBL | C1563731 | Inguinal Cryptorchidism | 1 | CTD_human |
| Tgene | CBL | C4230920 | Fetal hydrops (in some patients) | 1 | GENOMICS_ENGLAND |
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