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Fusion gene ID: 40777 |
FusionGeneSummary for UMPS_EVC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: UMPS_EVC | Fusion gene ID: 40777 | Hgene | Tgene | Gene symbol | UMPS | EVC | Gene ID | 7372 | 2121 |
| Gene name | uridine monophosphate synthetase | EvC ciliary complex subunit 1 | |
| Synonyms | OPRT | DWF-1|EVC1|EVCL | |
| Cytomap | 3q21.2 | 4p16.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | uridine 5'-monophosphate synthaseOMPdecaseOPRTaseUMP synthaseorotate phosphoribosyltransferaseorotidine 5'-phosphate decarboxylase | ellis-van Creveld syndrome proteinEllis van Creveld proteinEllis van Creveld syndrome | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | P11172 | P57679 | |
| Ensembl transtripts involved in fusion gene | ENST00000232607, ENST00000413078, ENST00000538242, ENST00000536109, ENST00000498715, | ENST00000264956, ENST00000382674, ENST00000509451, ENST00000515113, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 2 X 3 X 3=18 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: UMPS [Title/Abstract] AND EVC [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 | UMPS | GO:0006222 | UMP biosynthetic process | 6893554|11730338 |
| 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 | AW800517 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| * 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 |
| 3UTR-intron | ENST00000232607 | ENST00000264956 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000232607 | ENST00000382674 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000232607 | ENST00000509451 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000232607 | ENST00000515113 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000413078 | ENST00000264956 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000413078 | ENST00000382674 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000413078 | ENST00000509451 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000413078 | ENST00000515113 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000538242 | ENST00000264956 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000538242 | ENST00000382674 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000538242 | ENST00000509451 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000538242 | ENST00000515113 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000536109 | ENST00000264956 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000536109 | ENST00000382674 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000536109 | ENST00000509451 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| 3UTR-intron | ENST00000536109 | ENST00000515113 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| intron-intron | ENST00000498715 | ENST00000264956 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| intron-intron | ENST00000498715 | ENST00000382674 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| intron-intron | ENST00000498715 | ENST00000509451 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
| intron-intron | ENST00000498715 | ENST00000515113 | UMPS | chr3 | 124463070 | - | EVC | chr4 | 5784357 | - |
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FusionProtFeatures for UMPS_EVC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| UMPS | EVC |
| Component of the EvC complex that positively regulatesciliary Hedgehog (Hh) signaling. Involved in endochondral growthand skeletal development. {ECO:0000250|UniProtKB:P57680}. |
| 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 UMPS_EVC |
| 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 UMPS_EVC |
| 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 UMPS_EVC |
| 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 UMPS_EVC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | UMPS | C0038356 | Stomach Neoplasms | 3 | CTD_human |
| Hgene | UMPS | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| Hgene | UMPS | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Hgene | UMPS | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | UMPS | C0002895 | Anemia, Sickle Cell | 1 | CTD_human |
| Hgene | UMPS | C0005283 | beta Thalassemia | 1 | CTD_human |
| Hgene | UMPS | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | UMPS | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | UMPS | C0023440 | Acute Erythroblastic Leukemia | 1 | CTD_human |
| Hgene | UMPS | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Hgene | UMPS | C0037889 | Hereditary spherocytosis | 1 | CTD_human |
| Hgene | UMPS | C0268130 | Hereditary orotic aciduria, type 1 | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | UMPS | C0949116 | Congenital hypoplastic anemia | 1 | CTD_human |
| Hgene | UMPS | C2239176 | Liver carcinoma | 1 | CTD_human |
| Tgene | EVC | C0013903 | Ellis-Van Creveld Syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | EVC | C0457013 | Weyers acrofacial dysostosis | 1 | CTD_human;ORPHANET;UNIPROT |
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