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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 |