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Fusion gene ID: 39176 |
FusionGeneSummary for TP63_MVK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TP63_MVK | Fusion gene ID: 39176 | Hgene | Tgene | Gene symbol | TP63 | MVK | Gene ID | 8626 | 4598 |
| Gene name | tumor protein p63 | mevalonate kinase | |
| Synonyms | AIS|B(p51A)|B(p51B)|EEC3|KET|LMS|NBP|OFC8|RHS|SHFM4|TP53CP|TP53L|TP73L|p40|p51|p53CP|p63|p73H|p73L | LRBP|MK|MVLK|POROK3 | |
| Cytomap | 3q28 | 12q24.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tumor protein 63amplified in squamous cell carcinomachronic ulcerative stomatitis proteinkeratinocyte transcription factor KETtransformation-related protein 63tumor protein p53-competing protein | mevalonate kinaseLH receptor mRNA-binding proteinmevalonate kinase 1 | |
| Modification date | 20180521 | 20180523 | |
| UniProtAcc | Q9H3D4 | Q03426 | |
| Ensembl transtripts involved in fusion gene | ENST00000264731, ENST00000382063, ENST00000418709, ENST00000320472, ENST00000392460, ENST00000440651, ENST00000354600, ENST00000437221, ENST00000392463, ENST00000392461, ENST00000456148, ENST00000449992, | ENST00000535044, ENST00000539696, ENST00000228510, ENST00000392727, ENST00000539575, ENST00000541384, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 1 X 1 X 1=1 |
| # samples | 4 | 1 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TP63 [Title/Abstract] AND MVK [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 | TP63 | GO:0045747 | positive regulation of Notch signaling pathway | 11641404 |
| Hgene | TP63 | GO:0045892 | negative regulation of transcription, DNA-templated | 12446784 |
| Hgene | TP63 | GO:0045893 | positive regulation of transcription, DNA-templated | 12446784|16343436 |
| Hgene | TP63 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22521434 |
| Hgene | TP63 | GO:2000271 | positive regulation of fibroblast apoptotic process | 9774969 |
| Tgene | MVK | GO:0006695 | cholesterol biosynthetic process | 1377680 |
| Tgene | MVK | GO:0008299 | isoprenoid biosynthetic process | 14680974|14730012 |
| 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 | BG698692 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| * 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 |
| intron-intron | ENST00000264731 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000264731 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000264731 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000264731 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000264731 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000264731 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000382063 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000382063 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000382063 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000382063 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000382063 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000382063 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-intron | ENST00000418709 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-3UTR | ENST00000418709 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-3UTR | ENST00000418709 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-3UTR | ENST00000418709 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-intron | ENST00000418709 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-3UTR | ENST00000418709 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000320472 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000320472 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000320472 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000320472 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000320472 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000320472 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000392460 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392460 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392460 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392460 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000392460 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392460 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000440651 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000440651 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000440651 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000440651 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000440651 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000440651 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000354600 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000354600 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000354600 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000354600 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000354600 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000354600 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-intron | ENST00000437221 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-3UTR | ENST00000437221 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-3UTR | ENST00000437221 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-3UTR | ENST00000437221 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-intron | ENST00000437221 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| 3UTR-3UTR | ENST00000437221 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000392463 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392463 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392463 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392463 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000392463 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392463 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000392461 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392461 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392461 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392461 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000392461 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000392461 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000456148 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000456148 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000456148 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000456148 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000456148 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000456148 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000449992 | ENST00000535044 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000449992 | ENST00000539696 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000449992 | ENST00000228510 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000449992 | ENST00000392727 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-intron | ENST00000449992 | ENST00000539575 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
| intron-3UTR | ENST00000449992 | ENST00000541384 | TP63 | chr3 | 189598181 | + | MVK | chr12 | 110034441 | + |
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FusionProtFeatures for TP63_MVK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TP63 | MVK |
| Catalyzes the phosphorylation of mevalonate tomevalonate 5-phosphate, a key step in isoprenoid and cholesterolbiosynthesis (PubMed:9325256, PubMed:18302342).{ECO:0000269|PubMed:18302342, ECO:0000269|PubMed:9325256}. |
| 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 TP63_MVK |
| 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 TP63_MVK |
| 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 |
| - 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 TP63_MVK |
| 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 TP63_MVK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TP63 | C1785148 | RAPP-HODGKIN SYNDROME | 6 | CTD_human;ORPHANET;UNIPROT |
| Hgene | TP63 | C1858562 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 | 5 | CTD_human;UNIPROT |
| Hgene | TP63 | C0406709 | Hay-Wells syndrome | 3 | CTD_human;UNIPROT |
| Hgene | TP63 | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Hgene | TP63 | C1854442 | SPLIT-HAND/FOOT MALFORMATION 4 | 2 | CTD_human;UNIPROT |
| Hgene | TP63 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | TP63 | C0006145 | Breast Diseases | 1 | CTD_human |
| Hgene | TP63 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | TP63 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| Hgene | TP63 | C0008924 | Cleft Lip | 1 | CTD_human;HPO;ORPHANET |
| Hgene | TP63 | C0008925 | Cleft Palate | 1 | CTD_human;HPO |
| Hgene | TP63 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | TP63 | C0016508 | Congenital Foot Deformity | 1 | CTD_human |
| Hgene | TP63 | C0018566 | Congenital Hand Deformities | 1 | CTD_human |
| Hgene | TP63 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | TP63 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Hgene | TP63 | C0037268 | Skin Abnormalities | 1 | CTD_human |
| Hgene | TP63 | C0038987 | Sweat Gland Neoplasms | 1 | CTD_human |
| Hgene | TP63 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Hgene | TP63 | C0206720 | Squamous Cell Neoplasms | 1 | CTD_human |
| Hgene | TP63 | C0206762 | Limb Deformities, Congenital | 1 | CTD_human |
| Hgene | TP63 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | TP63 | C0406704 | Rudiger syndrome 1 | 1 | CTD_human;ORPHANET |
| Hgene | TP63 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Hgene | TP63 | C1720887 | Female Urogenital Diseases | 1 | CTD_human |
| Hgene | TP63 | C1863204 | ADULT SYNDROME | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | TP63 | C1863753 | LIMB-MAMMARY SYNDROME | 1 | CTD_human;ORPHANET |
| Tgene | MVK | C0398691 | Hyperimmunoglobulinemia D | 7 | ORPHANET;UNIPROT |
| Tgene | MVK | C1959626 | Mevalonic Aciduria | 6 | ORPHANET;UNIPROT |
| Tgene | MVK | C0342731 | Deficiency of mevalonate kinase | 3 | CTD_human;ORPHANET |
| Tgene | MVK | C0003862 | Arthralgia | 1 | CTD_human;HPO |
| Tgene | MVK | C0015230 | Exanthema | 1 | CTD_human;HPO |
| Tgene | MVK | C0015967 | Fever | 1 | CTD_human |
| Tgene | MVK | C1867981 | POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 | 1 | CTD_human;UNIPROT |
| Tgene | MVK | C2239176 | Liver carcinoma | 1 | CTD_human |
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