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Fusion gene ID: 39283 |
FusionGeneSummary for TPX2_DEFB118 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TPX2_DEFB118 | Fusion gene ID: 39283 | Hgene | Tgene | Gene symbol | TPX2 | DEFB118 | Gene ID | 22974 | 117285 |
| Gene name | TPX2, microtubule nucleation factor | defensin beta 118 | |
| Synonyms | C20orf1|C20orf2|DIL-2|DIL2|FLS353|GD:C20orf1|HCA519|HCTP4|REPP86|p100 | C20orf63|DEFB-18|ESC42|ESP13.6 | |
| Cytomap | 20q11.21 | 20q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | targeting protein for Xklp2TPX2, microtubule-associated protein homologTPX2, microtubule-associated, homologdifferentially expressed in cancerous and non-cancerous lung cells 2differentially expressed in lung cellshepatocellular carcinoma-associated | beta-defensin 118defensin, beta 18epididymal secretory protein 13.6epididymus specific clone 42 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q9ULW0 | Q96PH6 | |
| Ensembl transtripts involved in fusion gene | ENST00000340513, ENST00000300403, | ENST00000253381, | |
| Fusion gene scores | * DoF score | 14 X 8 X 12=1344 | 4 X 1 X 5=20 |
| # samples | 23 | 5 | |
| ** MAII score | log2(23/1344*10)=-2.54682737183439 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/20*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: TPX2 [Title/Abstract] AND DEFB118 [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 | TPX2 | GO:0032147 | activation of protein kinase activity | 14580337|19801554 |
| Hgene | TPX2 | GO:0090307 | mitotic spindle assembly | 26165940 |
| Tgene | DEFB118 | GO:0031640 | killing of cells of other organism | 15033915 |
| Tgene | DEFB118 | GO:0050829 | defense response to Gram-negative bacterium | 15033915 |
| Tgene | DEFB118 | GO:0051673 | membrane disruption in other organism | 15033915 |
| Tgene | DEFB118 | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 15033915 |
| 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 | CESC | TCGA-VS-A9UP-01A | TPX2 | chr20 | 30327424 | + | DEFB118 | chr20 | 29960660 | + |
| TCGA | RV | UCS | TCGA-N5-A4RD-01A | TPX2 | chr20 | 30359485 | + | DEFB118 | chr20 | 29960660 | + |
| * 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 |
| 5UTR-3CDS | ENST00000340513 | ENST00000253381 | TPX2 | chr20 | 30327424 | + | DEFB118 | chr20 | 29960660 | + |
| 5UTR-3CDS | ENST00000300403 | ENST00000253381 | TPX2 | chr20 | 30327424 | + | DEFB118 | chr20 | 29960660 | + |
| Frame-shift | ENST00000340513 | ENST00000253381 | TPX2 | chr20 | 30359485 | + | DEFB118 | chr20 | 29960660 | + |
| Frame-shift | ENST00000300403 | ENST00000253381 | TPX2 | chr20 | 30359485 | + | DEFB118 | chr20 | 29960660 | + |
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FusionProtFeatures for TPX2_DEFB118 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TPX2 | DEFB118 |