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Fusion gene ID: 3234 |
FusionGeneSummary for ATM_ASPH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATM_ASPH | Fusion gene ID: 3234 | Hgene | Tgene | Gene symbol | ATM | ASPH | Gene ID | 472 | 444 |
| Gene name | ATM serine/threonine kinase | aspartate beta-hydroxylase | |
| Synonyms | AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1 | AAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin | |
| Cytomap | 11q22.3 | 8q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine-protein kinase ATMA-T mutatedAT mutatedTEL1, telomere maintenance 1, homologataxia telangiectasia mutated | aspartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenase | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q13315 | Q12797 | |
| Ensembl transtripts involved in fusion gene | ENST00000278616, ENST00000452508, ENST00000525178, | ENST00000541428, ENST00000379454, ENST00000523897, ENST00000522919, ENST00000356457, ENST00000518068, ENST00000517903, ENST00000445642, ENST00000517847, ENST00000522835, ENST00000517856, ENST00000389204, ENST00000522603, ENST00000379449, ENST00000517661, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 12 X 12 X 3=432 |
| # samples | 3 | 16 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(16/432*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATM [Title/Abstract] AND ASPH [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | ATM | GO:0006468 | protein phosphorylation | 15916964 |
| Hgene | ATM | GO:0006974 | cellular response to DNA damage stimulus | 16213212 |
| Hgene | ATM | GO:0006975 | DNA damage induced protein phosphorylation | 9733515 |
| Hgene | ATM | GO:0010212 | response to ionizing radiation | 9733515|11375976 |
| Hgene | ATM | GO:0018105 | peptidyl-serine phosphorylation | 9733515|26323318 |
| Hgene | ATM | GO:0046777 | protein autophosphorylation | 9733515|15790808 |
| Hgene | ATM | GO:0071044 | histone mRNA catabolic process | 16086026 |
| Hgene | ATM | GO:0071480 | cellular response to gamma radiation | 9925639|16213212 |
| Hgene | ATM | GO:0071481 | cellular response to X-ray | 26323318 |
| Hgene | ATM | GO:0071500 | cellular response to nitrosative stress | 23878245 |
| Tgene | ASPH | GO:0045862 | positive regulation of proteolysis | 18387192 |
| Tgene | ASPH | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
| 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 | CB269353 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| * 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 |
| 5CDS-3UTR | ENST00000278616 | ENST00000541428 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-3UTR | ENST00000278616 | ENST00000379454 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000523897 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000522919 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000356457 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000518068 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000517903 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000445642 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000517847 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000522835 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000517856 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000389204 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000522603 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000379449 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000278616 | ENST00000517661 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-3UTR | ENST00000452508 | ENST00000541428 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-3UTR | ENST00000452508 | ENST00000379454 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000523897 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000522919 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000356457 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000518068 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000517903 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000445642 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000517847 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000522835 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000517856 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000389204 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000522603 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000379449 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| 5CDS-intron | ENST00000452508 | ENST00000517661 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-3UTR | ENST00000525178 | ENST00000541428 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-3UTR | ENST00000525178 | ENST00000379454 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000523897 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000522919 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000356457 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000518068 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000517903 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000445642 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000517847 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000522835 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000517856 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000389204 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000522603 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000379449 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
| intron-intron | ENST00000525178 | ENST00000517661 | ATM | chr11 | 108106442 | + | ASPH | chr8 | 62415173 | - |
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FusionProtFeatures for ATM_ASPH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATM | ASPH |