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Fusion gene ID: 40777 |
FusionGeneSummary for UMPS_EVC |
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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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | UMPS | GO:0006222 | UMP biosynthetic process | 6893554|11730338 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for UMPS_EVC |
![]() (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 |
![]() (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 |