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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 40777

FusionGeneSummary for UMPS_EVC

check button Fusion gene summary
Fusion gene informationFusion gene name: UMPS_EVC
Fusion gene ID: 40777
HgeneTgene
Gene symbol

UMPS

EVC

Gene ID

7372

2121

Gene nameuridine monophosphate synthetaseEvC ciliary complex subunit 1
SynonymsOPRTDWF-1|EVC1|EVCL
Cytomap

3q21.2

4p16.2

Type of geneprotein-codingprotein-coding
Descriptionuridine 5'-monophosphate synthaseOMPdecaseOPRTaseUMP synthaseorotate phosphoribosyltransferaseorotidine 5'-phosphate decarboxylaseellis-van Creveld syndrome proteinEllis van Creveld proteinEllis van Creveld syndrome
Modification date2018051920180519
UniProtAcc

P11172

P57679

Ensembl transtripts involved in fusion geneENST00000232607, ENST00000413078, 
ENST00000538242, ENST00000536109, 
ENST00000498715, 
ENST00000264956, 
ENST00000382674, ENST00000509451, 
ENST00000515113, 
Fusion gene scores* DoF score4 X 4 X 3=482 X 3 X 3=18
# samples 53
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneUMPS

GO:0006222

UMP biosynthetic process

6893554|11730338


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AW800517UMPSchr3

124463070

-EVCchr4

5784357

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
3UTR-intronENST00000232607ENST00000264956UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000232607ENST00000382674UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000232607ENST00000509451UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000232607ENST00000515113UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000413078ENST00000264956UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000413078ENST00000382674UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000413078ENST00000509451UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000413078ENST00000515113UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000538242ENST00000264956UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000538242ENST00000382674UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000538242ENST00000509451UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000538242ENST00000515113UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000536109ENST00000264956UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000536109ENST00000382674UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000536109ENST00000509451UMPSchr3

124463070

-EVCchr4

5784357

-
3UTR-intronENST00000536109ENST00000515113UMPSchr3

124463070

-EVCchr4

5784357

-
intron-intronENST00000498715ENST00000264956UMPSchr3

124463070

-EVCchr4

5784357

-
intron-intronENST00000498715ENST00000382674UMPSchr3

124463070

-EVCchr4

5784357

-
intron-intronENST00000498715ENST00000509451UMPSchr3

124463070

-EVCchr4

5784357

-
intron-intronENST00000498715ENST00000515113UMPSchr3

124463070

-EVCchr4

5784357

-

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FusionProtFeatures for UMPS_EVC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UMPS

P11172

EVC

P57679

Component of the EvC complex that positively regulatesciliary Hedgehog (Hh) signaling. Involved in endochondral growthand skeletal development. {ECO:0000250|UniProtKB:P57680}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for UMPS_EVC


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for UMPS_EVC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for UMPS_EVC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUMPSC0038356Stomach Neoplasms3CTD_human
HgeneUMPSC0009404Colorectal Neoplasms2CTD_human
HgeneUMPSC0033578Prostatic Neoplasms2CTD_human
HgeneUMPSC1458155Mammary Neoplasms2CTD_human
HgeneUMPSC0002895Anemia, Sickle Cell1CTD_human
HgeneUMPSC0005283beta Thalassemia1CTD_human
HgeneUMPSC0007137Squamous cell carcinoma1CTD_human
HgeneUMPSC0009375Colonic Neoplasms1CTD_human
HgeneUMPSC0023440Acute Erythroblastic Leukemia1CTD_human
HgeneUMPSC0026640Mouth Neoplasms1CTD_human
HgeneUMPSC0037889Hereditary spherocytosis1CTD_human
HgeneUMPSC0268130Hereditary orotic aciduria, type 11CTD_human;ORPHANET;UNIPROT
HgeneUMPSC0949116Congenital hypoplastic anemia1CTD_human
HgeneUMPSC2239176Liver carcinoma1CTD_human
TgeneEVCC0013903Ellis-Van Creveld Syndrome3CTD_human;ORPHANET;UNIPROT
TgeneEVCC0457013Weyers acrofacial dysostosis1CTD_human;ORPHANET;UNIPROT