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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:UVRAG-CMPK1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: UVRAG-CMPK1
FusionPDB ID: 97784
FusionGDB2.0 ID: 97784
HgeneTgene
Gene symbol

UVRAG

CMPK1

Gene ID

7405

51727

Gene nameUV radiation resistance associatedcytidine/uridine monophosphate kinase 1
SynonymsDHTX|VPS38|p63CK|CMK|CMPK|UMK|UMP-CMPK|UMPK
Cytomap

11q13.5

1p33

Type of geneprotein-codingprotein-coding
DescriptionUV radiation resistance-associated gene proteinbeclin 1 binding proteindisrupted in heterotaxyUMP-CMP kinaseUMP/CMP kinasecytidine monophosphate (UMP-CMP) kinase 1, cytosoliccytidylate kinasedCMP kinasedeoxycytidylate kinasenucleoside-diphosphate kinaseuridine monophosphate kinaseuridine monophosphate/cytidine monophosphate kinase
Modification date2020031320200313
UniProtAcc.

P30085

Main function of 5'-partner protein: FUNCTION: Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate acceptors. Also displays broad nucleoside diphosphate kinase activity. {ECO:0000255|HAMAP-Rule:MF_03172, ECO:0000269|PubMed:10462544, ECO:0000269|PubMed:11912132, ECO:0000269|PubMed:23416111}.
Ensembl transtripts involved in fusion geneENST idsENST00000356136, ENST00000528420, 
ENST00000533454, ENST00000525872, 
ENST00000531818, ENST00000532130, 
ENST00000538870, ENST00000539288, 
ENST00000450808, ENST00000471289, 
ENST00000371873, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score41 X 18 X 15=110708 X 7 X 4=224
# samples 499
** MAII scorelog2(49/11070*10)=-4.49772966266634
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: UVRAG [Title/Abstract] AND CMPK1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: UVRAG [Title/Abstract] AND CMPK1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)UVRAG(75672593)-CMPK1(47834141), # samples:3
Anticipated loss of major functional domain due to fusion event.UVRAG-CMPK1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
UVRAG-CMPK1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
UVRAG-CMPK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
UVRAG-CMPK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneUVRAG

GO:0071900

regulation of protein serine/threonine kinase activity

22542840

HgeneUVRAG

GO:0097352

autophagosome maturation

28306502

HgeneUVRAG

GO:0097680

double-strand break repair via classical nonhomologous end joining

22542840

TgeneCMPK1

GO:0006165

nucleoside diphosphate phosphorylation

23416111

TgeneCMPK1

GO:0009142

nucleoside triphosphate biosynthetic process

23416111



check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:75672593/chr1:47834141)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonRetention analysis results 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, are available here.

check buttonFusion gene breakpoints across UVRAG (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CMPK1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Amino Acid Sequences


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000356136UVRAGchr1175672593+ENST00000371873CMPK1chr147834141+35509401631455430
ENST00000528420UVRAGchr1175672593+ENST00000371873CMPK1chr147834141+3291681961196366
ENST00000356136UVRAGchr1175672593+ENST00000371873CMPK1chr147834140+35509401631455430
ENST00000528420UVRAGchr1175672593+ENST00000371873CMPK1chr147834140+3291681961196366

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000356136ENST00000371873UVRAGchr1175672593+CMPK1chr147834141+0.0001022870.9998977
ENST00000528420ENST00000371873UVRAGchr1175672593+CMPK1chr147834141+0.0004829070.9995171
ENST00000356136ENST00000371873UVRAGchr1175672593+CMPK1chr147834140+0.0001022870.9998977
ENST00000528420ENST00000371873UVRAGchr1175672593+CMPK1chr147834140+0.0004829070.9995171

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for UVRAG-CMPK1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
UVRAGchr1175672593CMPK1chr147834140681195EEKLRLTSTSNELKYGYTHLSAGELL
UVRAGchr1175672593CMPK1chr147834140940259EEKLRLTSTSNELKYGYTHLSAGELL
UVRAGchr1175672593CMPK1chr147834141681195EEKLRLTSTSNELKYGYTHLSAGELL
UVRAGchr1175672593CMPK1chr147834141940259EEKLRLTSTSNELKYGYTHLSAGELL

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Potential FusionNeoAntigen Information of UVRAG-CMPK1 in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
UVRAG-CMPK1_75672593_47834140.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
UVRAG-CMPK1chr1175672593chr147834140940HLA-B18:01NELKYGYTH0.98550.58491019
UVRAG-CMPK1chr1175672593chr147834140940HLA-B15:17TSNELKYGY0.97460.6839817
UVRAG-CMPK1chr1175672593chr147834140940HLA-B15:17TSTSNELKY0.95710.8626615
UVRAG-CMPK1chr1175672593chr147834140940HLA-B58:02TSNELKYGY0.86990.5931817
UVRAG-CMPK1chr1175672593chr147834140940HLA-B15:16TSTSNELKY0.78140.5712615
UVRAG-CMPK1chr1175672593chr147834140940HLA-B58:02TSTSNELKY0.73280.8403615
UVRAG-CMPK1chr1175672593chr147834140940HLA-B15:25RLTSTSNELKY0.99360.9287415
UVRAG-CMPK1chr1175672593chr147834140940HLA-C15:04TSNELKYGY0.61820.7595817
UVRAG-CMPK1chr1175672593chr147834140940HLA-C15:04TSTSNELKY0.58780.8861615
UVRAG-CMPK1chr1175672593chr147834140940HLA-C03:14TSTSNELKY0.03650.9719615
UVRAG-CMPK1chr1175672593chr147834140940HLA-B18:04NELKYGYTH0.98940.62221019
UVRAG-CMPK1chr1175672593chr147834140940HLA-B18:07NELKYGYTH0.98710.55731019
UVRAG-CMPK1chr1175672593chr147834140940HLA-B18:08NELKYGYTH0.98570.51541019
UVRAG-CMPK1chr1175672593chr147834140940HLA-B18:05NELKYGYTH0.98550.58491019
UVRAG-CMPK1chr1175672593chr147834140940HLA-B18:06NELKYGYTH0.98340.58861019
UVRAG-CMPK1chr1175672593chr147834140940HLA-B18:03NELKYGYTH0.95990.57211019
UVRAG-CMPK1chr1175672593chr147834140940HLA-B35:20TSNELKYGY0.88120.7134817
UVRAG-CMPK1chr1175672593chr147834140940HLA-B18:11NELKYGYTH0.68870.61381019
UVRAG-CMPK1chr1175672593chr147834140940HLA-B58:06TSTSNELKY0.67110.7017615
UVRAG-CMPK1chr1175672593chr147834140940HLA-B08:12ELKYGYTHL0.66080.631120
UVRAG-CMPK1chr1175672593chr147834140940HLA-C15:09TSNELKYGY0.61820.7595817
UVRAG-CMPK1chr1175672593chr147834140940HLA-C15:09TSTSNELKY0.58780.8861615
UVRAG-CMPK1chr1175672593chr147834140940HLA-C03:02TSTSNELKY0.58210.966615
UVRAG-CMPK1chr1175672593chr147834140940HLA-C16:01TSNELKYGY0.07460.9469817
UVRAG-CMPK1chr1175672593chr147834140940HLA-C16:02TSNELKYGY0.03330.9765817
UVRAG-CMPK1chr1175672593chr147834140940HLA-C16:04TSTSNELKY0.01640.9727615
UVRAG-CMPK1chr1175672593chr147834140940HLA-C16:01TSTSNELKY0.01350.9688615
UVRAG-CMPK1chr1175672593chr147834140940HLA-C16:02TSTSNELKY0.00770.9864615
UVRAG-CMPK1chr1175672593chr147834140940HLA-C02:02TSNELKYGY0.0010.9461817
UVRAG-CMPK1chr1175672593chr147834140940HLA-C02:10TSNELKYGY0.0010.9461817
UVRAG-CMPK1chr1175672593chr147834140940HLA-B15:135RLTSTSNELKY0.99730.9182415

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Potential FusionNeoAntigen Information of UVRAG-CMPK1 in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
UVRAG-CMPK1_75672593_47834140.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0117ELKYGYTHLSAGELL1126
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0403EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0411EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0417EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0437SNELKYGYTHLSAGE924
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0439EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0441EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0446EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0452EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0460EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0467EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0471EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0485EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0488EEKLRLTSTSNELKY015
UVRAG-CMPK1chr1175672593chr147834140940DRB1-0491EEKLRLTSTSNELKY015

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Fusion breakpoint peptide structures of UVRAG-CMPK1

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
9678TSTSNELKYGYTHLUVRAGCMPK1chr1175672593chr147834140940

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of UVRAG-CMPK1

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN9678TSTSNELKYGYTHL-7.9962-8.1096
HLA-B14:023BVN9678TSTSNELKYGYTHL-5.70842-6.74372
HLA-B52:013W399678TSTSNELKYGYTHL-6.83737-6.95077
HLA-B52:013W399678TSTSNELKYGYTHL-4.4836-5.5189
HLA-A11:014UQ29678TSTSNELKYGYTHL-10.0067-10.1201
HLA-A11:014UQ29678TSTSNELKYGYTHL-9.03915-10.0745
HLA-A24:025HGA9678TSTSNELKYGYTHL-6.56204-6.67544
HLA-A24:025HGA9678TSTSNELKYGYTHL-5.42271-6.45801
HLA-B44:053DX89678TSTSNELKYGYTHL-7.85648-8.89178
HLA-B44:053DX89678TSTSNELKYGYTHL-5.3978-5.5112
HLA-A02:016TDR9678TSTSNELKYGYTHL-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of UVRAG-CMPK1

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
UVRAG-CMPK1chr1175672593chr1478341401019NELKYGYTHAATGAACTGAAATATGGCTACACACAC
UVRAG-CMPK1chr1175672593chr1478341401120ELKYGYTHLGAACTGAAATATGGCTACACACACCTT
UVRAG-CMPK1chr1175672593chr147834140415RLTSTSNELKYAGACTCACATCTACAAGCAATGAACTGAAATAT
UVRAG-CMPK1chr1175672593chr147834140615TSTSNELKYACATCTACAAGCAATGAACTGAAATAT
UVRAG-CMPK1chr1175672593chr147834140817TSNELKYGYACAAGCAATGAACTGAAATATGGCTAC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
UVRAG-CMPK1chr1175672593chr147834140015EEKLRLTSTSNELKYGAAGAAAAACTAAGACTCACATCTACAAGCAATGAACTGAAATAT
UVRAG-CMPK1chr1175672593chr1478341401126ELKYGYTHLSAGELLGAACTGAAATATGGCTACACACACCTTTCTGCAGGAGAGCTGCTT
UVRAG-CMPK1chr1175672593chr147834140924SNELKYGYTHLSAGEAGCAATGAACTGAAATATGGCTACACACACCTTTCTGCAGGAGAG

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Information of the samples that have these potential fusion neoantigens of UVRAG-CMPK1

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
STADUVRAG-CMPK1chr1175672593ENST00000356136chr147834140ENST00000371873TCGA-RD-A8N4

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Potential target of CAR-T therapy development for UVRAG-CMPK1

check button Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to UVRAG-CMPK1

check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to UVRAG-CMPK1

check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource