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Fusion gene ID: 37468 |
FusionGeneSummary for TBK1_TMBIM4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TBK1_TMBIM4 | Fusion gene ID: 37468 | Hgene | Tgene | Gene symbol | TBK1 | TMBIM4 | Gene ID | 29110 | 51643 |
| Gene name | TANK binding kinase 1 | transmembrane BAX inhibitor motif containing 4 | |
| Synonyms | FTDALS4|IIAE8|NAK|T2K | CGI-119|GAAP|LFG4|S1R|ZPRO | |
| Cytomap | 12q14.2 | 12q14.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase TBK1NF-kB-activating kinaseNF-kappa-B-activating kinase | protein lifeguard 4Golgi anti-apoptotic proteinZ-proteintransmembrane BAX inhibitor motif-containing protein 4 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9UHD2 | Q9HC24 | |
| Ensembl transtripts involved in fusion gene | ENST00000331710, | ENST00000539652, ENST00000556010, ENST00000358230, ENST00000544599, ENST00000286424, ENST00000398033, ENST00000542724, ENST00000535812, | |
| Fusion gene scores | * DoF score | 6 X 3 X 4=72 | 4 X 2 X 2=16 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/72*10)=-0.526068811667588 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TBK1 [Title/Abstract] AND TMBIM4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their 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 | TBK1 | GO:0006468 | protein phosphorylation | 27103069 |
| Hgene | TBK1 | GO:0016239 | positive regulation of macroautophagy | 27103069 |
| Hgene | TBK1 | GO:0018105 | peptidyl-serine phosphorylation | 25803835|27103069 |
| Hgene | TBK1 | GO:0018107 | peptidyl-threonine phosphorylation | 27103069 |
| Hgene | TBK1 | GO:0032727 | positive regulation of interferon-alpha production | 16127453 |
| Hgene | TBK1 | GO:0032728 | positive regulation of interferon-beta production | 16127453 |
| Hgene | TBK1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16127453 |
| Tgene | TMBIM4 | GO:0050848 | regulation of calcium-mediated signaling | 19553469 |
| 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 |
| TCGA | RV | SARC | TCGA-DX-AB35-01A | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| * 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 | ENST00000331710 | ENST00000539652 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| In-frame | ENST00000331710 | ENST00000556010 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| Frame-shift | ENST00000331710 | ENST00000358230 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-5UTR | ENST00000331710 | ENST00000544599 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-5UTR | ENST00000331710 | ENST00000286424 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-5UTR | ENST00000331710 | ENST00000398033 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-intron | ENST00000331710 | ENST00000542724 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
| 5CDS-intron | ENST00000331710 | ENST00000535812 | TBK1 | chr12 | 64849737 | + | TMBIM4 | chr12 | 66547228 | - |
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FusionProtFeatures for TBK1_TMBIM4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TBK1 | TMBIM4 |