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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:VIM-DES

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: VIM-DES
FusionPDB ID: 98108
FusionGDB2.0 ID: 98108
HgeneTgene
Gene symbol

VIM

DES

Gene ID

7431

1674

Gene namevimentindesmin
Synonyms-CDCD3|CMD1F|CSM1|CSM2|LGMD1D|LGMD1E|LGMD2R
Cytomap

10p13

2q35

Type of geneprotein-codingprotein-coding
Descriptionvimentinepididymis secretory sperm binding proteindesmincardiomyopathy, dilated 1F (autosomal dominant)epididymis secretory sperm binding proteinintermediate filament proteinmutant desmin p.K241E
Modification date2020032720200329
UniProtAcc

VMAC

Main function of 5'-partner protein: 169

PPPDE2

Main function of 5'-partner protein: 168
Ensembl transtripts involved in fusion geneENST idsENST00000485947, ENST00000224237, 
ENST00000544301, 
ENST00000373960, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score38 X 18 X 13=88926 X 8 X 5=240
# samples 429
** MAII scorelog2(42/8892*10)=-4.40404671536087
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/240*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: VIM [Title/Abstract] AND DES [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: VIM [Title/Abstract] AND DES [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DES(220286282)-VIM(17277845), # samples:2
VIM(17275681)-DES(220285217), # samples:1
VIM(17271757)-DES(220283497), # samples:1
Anticipated loss of major functional domain due to fusion event.DES-VIM 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.
DES-VIM 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.
VIM-DES 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.
VIM-DES 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.
VIM-DES 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.
VIM-DES 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.
VIM-DES seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
VIM-DES seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted 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


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/chr10:220286282/chr2:17277845)
- 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 VIM (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 DES (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)
ENST00000544301VIMchr1017275681+ENST00000373960DESchr2220285217+256011334131810465
ENST00000224237VIMchr1017275681+ENST00000373960DESchr2220285217+22928651451542465

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
ENST00000544301ENST00000373960VIMchr1017275681+DESchr2220285217+0.0087852060.99121475
ENST00000224237ENST00000373960VIMchr1017275681+DESchr2220285217+0.0085480840.99145186

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 VIM-DES

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
VIMchr1017275681DESchr2220285217113384SSVPGVRLLQDSVDFSLADAINTEFK
VIMchr1017275681DESchr222028521786584SSVPGVRLLQDSVDFSLADAINTEFK

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Potential FusionNeoAntigen Information of VIM-DES 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.
VIM-DES_17275681_220285217.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)
VIM-DESchr1017275681chr2220285217865HLA-B15:01RLLQDSVDF0.9930.837615
VIM-DESchr1017275681chr2220285217865HLA-B15:25RLLQDSVDF0.94620.9073615
VIM-DESchr1017275681chr2220285217865HLA-B39:01LQDSVDFSL0.86630.8442817
VIM-DESchr1017275681chr2220285217865HLA-A02:21LQDSVDFSL0.85630.5511817
VIM-DESchr1017275681chr2220285217865HLA-B39:13LQDSVDFSL0.77530.8352817
VIM-DESchr1017275681chr2220285217865HLA-B38:01LQDSVDFSL0.68020.9025817
VIM-DESchr1017275681chr2220285217865HLA-B38:02LQDSVDFSL0.66330.9102817
VIM-DESchr1017275681chr2220285217865HLA-B13:02LQDSVDFSL0.62180.5977817
VIM-DESchr1017275681chr2220285217865HLA-B13:01LQDSVDFSL0.560.9562817
VIM-DESchr1017275681chr2220285217865HLA-B13:01RLLQDSVDF0.07780.9307615
VIM-DESchr1017275681chr2220285217865HLA-A02:22LLQDSVDFSL0.99660.6156717
VIM-DESchr1017275681chr2220285217865HLA-A02:30LLQDSVDFSL0.9930.5756717
VIM-DESchr1017275681chr2220285217865HLA-A02:24LLQDSVDFSL0.9930.5756717
VIM-DESchr1017275681chr2220285217865HLA-A02:67LLQDSVDFSL0.9930.5756717
VIM-DESchr1017275681chr2220285217865HLA-A02:60LLQDSVDFSL0.99270.5747717
VIM-DESchr1017275681chr2220285217865HLA-A02:11LLQDSVDFSL0.99240.5782717
VIM-DESchr1017275681chr2220285217865HLA-A02:27LLQDSVDFSL0.98820.6057717
VIM-DESchr1017275681chr2220285217865HLA-A02:04LLQDSVDFSL0.98470.6407717
VIM-DESchr1017275681chr2220285217865HLA-A02:19LLQDSVDFSL0.95660.5199717
VIM-DESchr1017275681chr2220285217865HLA-A02:29LLQDSVDFSL0.90010.5741717
VIM-DESchr1017275681chr2220285217865HLA-A02:20LLQDSVDFSL0.88640.5859717
VIM-DESchr1017275681chr2220285217865HLA-A02:60RLLQDSVDFSL0.99830.5388617
VIM-DESchr1017275681chr2220285217865HLA-A02:67RLLQDSVDFSL0.99820.5167617
VIM-DESchr1017275681chr2220285217865HLA-A02:24RLLQDSVDFSL0.99820.5167617
VIM-DESchr1017275681chr2220285217865HLA-A02:30RLLQDSVDFSL0.99820.5167617
VIM-DESchr1017275681chr2220285217865HLA-A02:04RLLQDSVDFSL0.99620.5899617
VIM-DESchr1017275681chr2220285217865HLA-A02:29RLLQDSVDFSL0.95030.5192617
VIM-DESchr1017275681chr2220285217865HLA-A02:20RLLQDSVDFSL0.94590.5225617
VIM-DESchr1017275681chr2220285217865HLA-B48:01RLLQDSVDFSL0.90230.52617
VIM-DESchr1017275681chr2220285217865HLA-B13:01RLLQDSVDFSL0.7490.9796617
VIM-DESchr1017275681chr2220285217865HLA-C05:09LQDSVDFSL0.99980.951817
VIM-DESchr1017275681chr2220285217865HLA-C04:10LQDSVDFSL0.99980.7294817
VIM-DESchr1017275681chr2220285217865HLA-C04:07LQDSVDFSL0.99970.7633817
VIM-DESchr1017275681chr2220285217865HLA-C08:15LQDSVDFSL0.99960.9753817
VIM-DESchr1017275681chr2220285217865HLA-C04:06LQDSVDFSL0.97380.7023817
VIM-DESchr1017275681chr2220285217865HLA-C08:03LQDSVDFSL0.95630.9855817
VIM-DESchr1017275681chr2220285217865HLA-C08:13LQDSVDFSL0.95220.9625817
VIM-DESchr1017275681chr2220285217865HLA-C08:04LQDSVDFSL0.95220.9625817
VIM-DESchr1017275681chr2220285217865HLA-C04:14LQDSVDFSL0.91310.7128817
VIM-DESchr1017275681chr2220285217865HLA-B39:09LQDSVDFSL0.86090.5256817
VIM-DESchr1017275681chr2220285217865HLA-A02:07LQDSVDFSL0.84790.5547817
VIM-DESchr1017275681chr2220285217865HLA-B39:08LQDSVDFSL0.81010.901817
VIM-DESchr1017275681chr2220285217865HLA-B39:05LQDSVDFSL0.70730.8116817
VIM-DESchr1017275681chr2220285217865HLA-B15:05RLLQDSVDF0.58020.8643615
VIM-DESchr1017275681chr2220285217865HLA-A02:01LLQDSVDFSL0.9930.5756717
VIM-DESchr1017275681chr2220285217865HLA-A02:07LLQDSVDFSL0.99290.6507717
VIM-DESchr1017275681chr2220285217865HLA-A02:01RLLQDSVDFSL0.99820.5167617
VIM-DESchr1017275681chr2220285217865HLA-B39:08RLLQDSVDFSL0.80570.9484617
VIM-DESchr1017275681chr2220285217865HLA-C04:03LQDSVDFSL0.99980.8453817
VIM-DESchr1017275681chr2220285217865HLA-C05:01LQDSVDFSL0.99980.951817
VIM-DESchr1017275681chr2220285217865HLA-C04:01LQDSVDFSL0.99970.7633817
VIM-DESchr1017275681chr2220285217865HLA-C08:02LQDSVDFSL0.99960.9753817
VIM-DESchr1017275681chr2220285217865HLA-C18:01LQDSVDFSL0.99950.8359817
VIM-DESchr1017275681chr2220285217865HLA-B15:33RLLQDSVDF0.9930.837615
VIM-DESchr1017275681chr2220285217865HLA-B15:34RLLQDSVDF0.9930.837615
VIM-DESchr1017275681chr2220285217865HLA-B15:125RLLQDSVDF0.9930.837615
VIM-DESchr1017275681chr2220285217865HLA-A32:01RLLQDSVDF0.98170.9311615
VIM-DESchr1017275681chr2220285217865HLA-C08:01LQDSVDFSL0.95630.9855817
VIM-DESchr1017275681chr2220285217865HLA-B15:39RLLQDSVDF0.95270.8029615
VIM-DESchr1017275681chr2220285217865HLA-B39:02LQDSVDFSL0.87660.8503817
VIM-DESchr1017275681chr2220285217865HLA-B39:31LQDSVDFSL0.87390.8457817
VIM-DESchr1017275681chr2220285217865HLA-A02:14LQDSVDFSL0.85790.5046817
VIM-DESchr1017275681chr2220285217865HLA-A02:06LQDSVDFSL0.85630.5511817
VIM-DESchr1017275681chr2220285217865HLA-B39:11LQDSVDFSL0.77950.8591817
VIM-DESchr1017275681chr2220285217865HLA-B38:05LQDSVDFSL0.68020.9025817
VIM-DESchr1017275681chr2220285217865HLA-B15:73LQDSVDFSL0.58110.7402817
VIM-DESchr1017275681chr2220285217865HLA-B15:20RLLQDSVDF0.57960.9034615
VIM-DESchr1017275681chr2220285217865HLA-B35:13LQDSVDFSL0.5740.8826817
VIM-DESchr1017275681chr2220285217865HLA-B35:28RLLQDSVDF0.51570.9058615
VIM-DESchr1017275681chr2220285217865HLA-B15:09LQDSVDFSL0.44820.7192817
VIM-DESchr1017275681chr2220285217865HLA-B40:21RLLQDSVDFSL0.75050.513617

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Potential FusionNeoAntigen Information of VIM-DES 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.
VIM-DES_17275681_220285217.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)
VIM-DESchr1017275681chr2220285217865DRB1-0113SVDFSLADAINTEFK1126
VIM-DESchr1017275681chr2220285217865DRB1-0117SVDFSLADAINTEFK1126
VIM-DESchr1017275681chr2220285217865DRB1-0121SVDFSLADAINTEFK1126
VIM-DESchr1017275681chr2220285217865DRB1-0129SVDFSLADAINTEFK1126
VIM-DESchr1017275681chr2220285217865DRB1-0411SVPGVRLLQDSVDFS116
VIM-DESchr1017275681chr2220285217865DRB1-0411VPGVRLLQDSVDFSL217
VIM-DESchr1017275681chr2220285217865DRB1-0411SSVPGVRLLQDSVDF015
VIM-DESchr1017275681chr2220285217865DRB1-0467SVPGVRLLQDSVDFS116
VIM-DESchr1017275681chr2220285217865DRB1-0467VPGVRLLQDSVDFSL217
VIM-DESchr1017275681chr2220285217865DRB1-0491SVPGVRLLQDSVDFS116
VIM-DESchr1017275681chr2220285217865DRB1-0491VPGVRLLQDSVDFSL217
VIM-DESchr1017275681chr2220285217865DRB1-0491SSVPGVRLLQDSVDF015
VIM-DESchr1017275681chr2220285217865DRB4-0104GVRLLQDSVDFSLAD419

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Fusion breakpoint peptide structures of VIM-DES

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
8016RLLQDSVDFSLADAVIMDESchr1017275681chr2220285217865

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of VIM-DES

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-B14:023BVN8016RLLQDSVDFSLADA-7.9962-8.1096
HLA-B14:023BVN8016RLLQDSVDFSLADA-5.70842-6.74372
HLA-B52:013W398016RLLQDSVDFSLADA-6.83737-6.95077
HLA-B52:013W398016RLLQDSVDFSLADA-4.4836-5.5189
HLA-A11:014UQ28016RLLQDSVDFSLADA-10.0067-10.1201
HLA-A11:014UQ28016RLLQDSVDFSLADA-9.03915-10.0745
HLA-A24:025HGA8016RLLQDSVDFSLADA-6.56204-6.67544
HLA-A24:025HGA8016RLLQDSVDFSLADA-5.42271-6.45801
HLA-B44:053DX88016RLLQDSVDFSLADA-7.85648-8.89178
HLA-B44:053DX88016RLLQDSVDFSLADA-5.3978-5.5112
HLA-A02:016TDR8016RLLQDSVDFSLADA-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of VIM-DES

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
VIM-DESchr1017275681chr2220285217615RLLQDSVDFTTGAAGAAACTCCACGAAGAGGAGATC
VIM-DESchr1017275681chr2220285217617RLLQDSVDFSLTTGAAGAAACTCCACGAAGAGGAGATCCGTGAG
VIM-DESchr1017275681chr2220285217717LLQDSVDFSLAAGAAACTCCACGAAGAGGAGATCCGTGAG
VIM-DESchr1017275681chr2220285217817LQDSVDFSLAAACTCCACGAAGAGGAGATCCGTGAG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
VIM-DESchr1017275681chr2220285217015SSVPGVRLLQDSVDFCAAGAAGAGATTGCCTTTTTGAAGAAACTCCACGAAGAGGAGATC
VIM-DESchr1017275681chr2220285217116SVPGVRLLQDSVDFSGAAGAGATTGCCTTTTTGAAGAAACTCCACGAAGAGGAGATCCGT
VIM-DESchr1017275681chr22202852171126SVDFSLADAINTEFKGAAGAGGAGATCCGTGAGTTGCAGGCTCAGCTTCAGGAACAGCAG
VIM-DESchr1017275681chr2220285217217VPGVRLLQDSVDFSLGAGATTGCCTTTTTGAAGAAACTCCACGAAGAGGAGATCCGTGAG
VIM-DESchr1017275681chr2220285217419GVRLLQDSVDFSLADGCCTTTTTGAAGAAACTCCACGAAGAGGAGATCCGTGAGTTGCAG

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Information of the samples that have these potential fusion neoantigens of VIM-DES

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
GBMVIM-DESchr1017275681ENST00000224237chr2220285217ENST00000373960TCGA-06-0644-01A

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Potential target of CAR-T therapy development for VIM-DES

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 VIM-DES

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 VIM-DES

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