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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:GMDS-EEF1E1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: GMDS-EEF1E1
FusionPDB ID: 33456
FusionGDB2.0 ID: 33456
HgeneTgene
Gene symbol

GMDS

EEF1E1

Gene ID

2762

9521

Gene nameGDP-mannose 4,6-dehydrataseeukaryotic translation elongation factor 1 epsilon 1
SynonymsGMD|SDR3E1AIMP3|P18
Cytomap

6p25.3

6p24.3

Type of geneprotein-codingprotein-coding
DescriptionGDP-mannose 4,6 dehydrataseGDP-D-mannose dehydrataseshort chain dehydrogenase/reductase family 3E, member 1eukaryotic translation elongation factor 1 epsilon-1ARS-interacting multifunctional protein 3aminoacyl tRNA synthetase complex-interacting multifunctional protein 3multisynthase complex auxiliary component p18p18 component of aminoacyl-tRNA synthetase
Modification date2020031320200313
UniProtAcc

O60547

Main function of 5'-partner protein: FUNCTION: Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose. {ECO:0000269|PubMed:9525924}.

O43324

Main function of 5'-partner protein: FUNCTION: Positive modulator of ATM response to DNA damage. {ECO:0000250|UniProtKB:Q9D1M4}.
Ensembl transtripts involved in fusion geneENST idsENST00000380815, ENST00000530927, 
ENST00000467288, 
ENST00000379715, 
ENST00000429723, ENST00000507463, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score28 X 19 X 15=79805 X 2 X 5=50
# samples 325
** MAII scorelog2(32/7980*10)=-4.64024493622235
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Fusion gene context

PubMed: GMDS [Title/Abstract] AND EEF1E1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: GMDS [Title/Abstract] AND EEF1E1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)GMDS(2116005)-EEF1E1(8097700), # samples:1
Anticipated loss of major functional domain due to fusion event.GMDS-EEF1E1 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.
GMDS-EEF1E1 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.
GMDS-EEF1E1 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.
GMDS-EEF1E1 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
HgeneGMDS

GO:0019673

GDP-mannose metabolic process

9525924

HgeneGMDS

GO:0042351

'de novo' GDP-L-fucose biosynthetic process

9525924

TgeneEEF1E1

GO:2000774

positive regulation of cellular senescence

25465621



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/chr6:2116005/chr6:8097700)
- 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 GMDS (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 EEF1E1 (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)
ENST00000530927GMDSchr62116005-ENST00000429723EEF1E1chr68097700-75130348635195
ENST00000530927GMDSchr62116005-ENST00000379715EEF1E1chr68097700-123630348740230
ENST00000530927GMDSchr62116005-ENST00000507463EEF1E1chr68097700-83230348668206
ENST00000380815GMDSchr62116005-ENST00000429723EEF1E1chr68097700-106361542947301
ENST00000380815GMDSchr62116005-ENST00000379715EEF1E1chr68097700-1548615421052336
ENST00000380815GMDSchr62116005-ENST00000507463EEF1E1chr68097700-114461542980312

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
ENST00000530927ENST00000429723GMDSchr62116005-EEF1E1chr68097700-0.0023890460.9976109
ENST00000530927ENST00000379715GMDSchr62116005-EEF1E1chr68097700-0.0003992680.9996007
ENST00000530927ENST00000507463GMDSchr62116005-EEF1E1chr68097700-0.0012051640.9987948
ENST00000380815ENST00000429723GMDSchr62116005-EEF1E1chr68097700-0.0020939460.9979061
ENST00000380815ENST00000379715GMDSchr62116005-EEF1E1chr68097700-0.0006760430.99932396
ENST00000380815ENST00000507463GMDSchr62116005-EEF1E1chr68097700-0.0012884670.9987116

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 GMDS-EEF1E1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
GMDSchr62116005EEF1E1chr6809770030384PTEIYNLGAQSHVKIPVLQTNNGPSL
GMDSchr62116005EEF1E1chr68097700615190PTEIYNLGAQSHVKIPVLQTNNGPSL

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Potential FusionNeoAntigen Information of GMDS-EEF1E1 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.
GMDS-EEF1E1_2116005_8097700.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)
GMDS-EEF1E1chr62116005chr68097700615HLA-B39:06SHVKIPVL0.99980.71041018
GMDS-EEF1E1chr62116005chr68097700615HLA-B39:01SHVKIPVL0.99970.87921018
GMDS-EEF1E1chr62116005chr68097700615HLA-B14:01SHVKIPVL0.99960.54441018
GMDS-EEF1E1chr62116005chr68097700615HLA-B14:02SHVKIPVL0.99960.54441018
GMDS-EEF1E1chr62116005chr68097700615HLA-B38:02SHVKIPVL0.99930.94481018
GMDS-EEF1E1chr62116005chr68097700615HLA-B39:13SHVKIPVL0.99920.88651018
GMDS-EEF1E1chr62116005chr68097700615HLA-B38:01SHVKIPVL0.99910.94011018
GMDS-EEF1E1chr62116005chr68097700615HLA-B15:37SHVKIPVL0.99820.56161018
GMDS-EEF1E1chr62116005chr68097700615HLA-B15:18SHVKIPVL0.99170.62841018
GMDS-EEF1E1chr62116005chr68097700615HLA-B08:09QSHVKIPVL0.99560.5513918
GMDS-EEF1E1chr62116005chr68097700615HLA-B14:01QSHVKIPVL0.99150.7535918
GMDS-EEF1E1chr62116005chr68097700615HLA-B14:02QSHVKIPVL0.99150.7535918
GMDS-EEF1E1chr62116005chr68097700615HLA-B48:01AQSHVKIPV0.99140.6132817
GMDS-EEF1E1chr62116005chr68097700615HLA-A30:08HVKIPVLQT0.9490.89171120
GMDS-EEF1E1chr62116005chr68097700615HLA-B13:02AQSHVKIPV0.94490.9005817
GMDS-EEF1E1chr62116005chr68097700615HLA-A02:21AQSHVKIPV0.93150.6152817
GMDS-EEF1E1chr62116005chr68097700615HLA-B48:01AQSHVKIPVL0.99340.6465818
GMDS-EEF1E1chr62116005chr68097700615HLA-B13:02AQSHVKIPVL0.84140.8144818
GMDS-EEF1E1chr62116005chr68097700615HLA-B13:01AQSHVKIPVL0.72470.9774818
GMDS-EEF1E1chr62116005chr68097700615HLA-B39:09SHVKIPVL0.99980.59671018
GMDS-EEF1E1chr62116005chr68097700615HLA-B39:12SHVKIPVL0.99960.88711018
GMDS-EEF1E1chr62116005chr68097700615HLA-B39:05SHVKIPVL0.99910.85661018
GMDS-EEF1E1chr62116005chr68097700615HLA-C07:13SHVKIPVL0.9960.82171018
GMDS-EEF1E1chr62116005chr68097700615HLA-B14:03SHVKIPVL0.84530.7391018
GMDS-EEF1E1chr62116005chr68097700615HLA-C03:19QSHVKIPVL0.99940.9698918
GMDS-EEF1E1chr62116005chr68097700615HLA-C03:07QSHVKIPVL0.99940.9827918
GMDS-EEF1E1chr62116005chr68097700615HLA-C12:12QSHVKIPVL0.99910.9092918
GMDS-EEF1E1chr62116005chr68097700615HLA-C03:08QSHVKIPVL0.99860.9077918
GMDS-EEF1E1chr62116005chr68097700615HLA-C15:06QSHVKIPVL0.99830.9338918
GMDS-EEF1E1chr62116005chr68097700615HLA-C06:03QSHVKIPVL0.99790.9874918
GMDS-EEF1E1chr62116005chr68097700615HLA-C12:04QSHVKIPVL0.99760.989918
GMDS-EEF1E1chr62116005chr68097700615HLA-B14:03QSHVKIPVL0.75050.779918
GMDS-EEF1E1chr62116005chr68097700615HLA-B39:31SHVKIPVL0.99970.87871018
GMDS-EEF1E1chr62116005chr68097700615HLA-B39:02SHVKIPVL0.99970.89291018
GMDS-EEF1E1chr62116005chr68097700615HLA-B38:05SHVKIPVL0.99910.94011018
GMDS-EEF1E1chr62116005chr68097700615HLA-B39:11SHVKIPVL0.90940.62141018
GMDS-EEF1E1chr62116005chr68097700615HLA-C03:05QSHVKIPVL0.99940.9261918
GMDS-EEF1E1chr62116005chr68097700615HLA-C12:03QSHVKIPVL0.99920.9674918
GMDS-EEF1E1chr62116005chr68097700615HLA-C03:17QSHVKIPVL0.99920.9754918
GMDS-EEF1E1chr62116005chr68097700615HLA-C15:02QSHVKIPVL0.9990.8741918
GMDS-EEF1E1chr62116005chr68097700615HLA-C15:05QSHVKIPVL0.99880.9271918
GMDS-EEF1E1chr62116005chr68097700615HLA-C03:03QSHVKIPVL0.99830.9868918
GMDS-EEF1E1chr62116005chr68097700615HLA-C03:04QSHVKIPVL0.99830.9868918
GMDS-EEF1E1chr62116005chr68097700615HLA-C16:04QSHVKIPVL0.99690.967918
GMDS-EEF1E1chr62116005chr68097700615HLA-B08:12QSHVKIPVL0.98910.5376918
GMDS-EEF1E1chr62116005chr68097700615HLA-B15:73AQSHVKIPV0.95740.8886817
GMDS-EEF1E1chr62116005chr68097700615HLA-A30:01HVKIPVLQT0.9470.94961120
GMDS-EEF1E1chr62116005chr68097700615HLA-C16:01QSHVKIPVL0.93790.9739918
GMDS-EEF1E1chr62116005chr68097700615HLA-A02:06AQSHVKIPV0.93150.6152817
GMDS-EEF1E1chr62116005chr68097700615HLA-C16:02QSHVKIPVL0.90120.9888918
GMDS-EEF1E1chr62116005chr68097700615HLA-B15:73AQSHVKIPVL0.99130.9249818
GMDS-EEF1E1chr62116005chr68097700615HLA-B15:30AQSHVKIPVL0.9770.8516818
GMDS-EEF1E1chr62116005chr68097700615HLA-B40:21AQSHVKIPVL0.72140.5579818

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Potential FusionNeoAntigen Information of GMDS-EEF1E1 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.
GMDS-EEF1E1_2116005_8097700.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)
GMDS-EEF1E1chr62116005chr68097700615DRB1-1002PTEIYNLGAQSHVKI015

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Fusion breakpoint peptide structures of GMDS-EEF1E1

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
4983LGAQSHVKIPVLQTGMDSEEF1E1chr62116005chr68097700615

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of GMDS-EEF1E1

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-B52:013W394983LGAQSHVKIPVLQT-6.26165-6.26165
HLA-B44:053DX84983LGAQSHVKIPVLQT-4.95317-4.95317
HLA-A02:016TDR4983LGAQSHVKIPVLQT-4.1977-4.1977

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Vaccine Design for the FusionNeoAntigens of GMDS-EEF1E1

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
GMDS-EEF1E1chr62116005chr680977001018SHVKIPVLCACGTCAAAATTCCAGTTCTTCAG
GMDS-EEF1E1chr62116005chr680977001120HVKIPVLQTGTCAAAATTCCAGTTCTTCAGACAAAC
GMDS-EEF1E1chr62116005chr68097700817AQSHVKIPVCAGAGCCACGTCAAAATTCCAGTTCTT
GMDS-EEF1E1chr62116005chr68097700818AQSHVKIPVLCAGAGCCACGTCAAAATTCCAGTTCTTCAG
GMDS-EEF1E1chr62116005chr68097700918QSHVKIPVLAGCCACGTCAAAATTCCAGTTCTTCAG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
GMDS-EEF1E1chr62116005chr68097700015PTEIYNLGAQSHVKIACAGAGATCTACAACCTTGGAGCCCAGAGCCACGTCAAAATTCCA

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Information of the samples that have these potential fusion neoantigens of GMDS-EEF1E1

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
COADGMDS-EEF1E1chr62116005ENST00000380815chr68097700ENST00000379715TCGA-A6-6654-01A

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Potential target of CAR-T therapy development for GMDS-EEF1E1

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 GMDS-EEF1E1

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 GMDS-EEF1E1

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