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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 |
| Spindle assembly factor required for normal assembly ofmitotic spindles. Required for normal assembly of microtubulesduring apoptosis. Required for chromatin and/or kinetochoredependent microtubule nucleation. Mediates AURKA localization tospindle microtubules (PubMed:18663142, PubMed:19208764). ActivatesAURKA by promoting its autophosphorylation at 'Thr-288' andprotects this residue against dephosphorylation (PubMed:18663142,PubMed:19208764). TPX2 is inactivated upon binding to importin-alpha (PubMed:26165940). At the onset of mitosis, GOLGA2 interactswith importin-alpha, liberating TPX2 from importin-alpha, allowingTPX2 to activates AURKA kinase and stimulates local microtubulenucleation (PubMed:26165940). {ECO:0000269|PubMed:18663142,ECO:0000269|PubMed:19208764, ECO:0000269|PubMed:26165940}. | Has antibacterial activity. {ECO:0000305}. |
| 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. |
| - In-frame and 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 |
| - In-frame and 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 |
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FusionGeneSequence for TPX2_DEFB118 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for TPX2_DEFB118 |
| 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 (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| TPX2 | AURKA, FZR1, KPNA1, KPNB1, HMMR, BRCA1, SIAH2, ZNF598, NDUFA7, THUMPD2, DNAJC8, MRPL53, SERPINH1, UBE2S, PPIF, SARNP, TWF1, SCAMP3, CDK6, IKBKB, CHUK, IKBKG, AURKB, LMNA, HDAC9, THAP11, NAP1L1, RPA3, RPA2, RPA1, GOLGA2, MAPK14, GSTM3, HIST1H2BG, AFAP1, SAP130, RBPJ, CDC5L, RNF111 | DEFB118 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TPX2_DEFB118 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TPX2_DEFB118 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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