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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:EVA1C-HUNK

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EVA1C-HUNK
FusionPDB ID: 27759
FusionGDB2.0 ID: 27759
HgeneTgene
Gene symbol

EVA1C

HUNK

Gene ID

59271

30811

Gene nameeva-1 homolog Chormonally up-regulated Neu-associated kinase
SynonymsB18|B19|C21orf63|C21orf64|FAM176C|PRED34|SUE21-
Cytomap

21q22.11

21q22.11

Type of geneprotein-codingprotein-coding
Descriptionprotein eva-1 homolog Cfamily with sequence similarity 176, member Cprotein FAM176Chormonally up-regulated neu tumor-associated kinaseB19hormonally upregulated Neu-associated kinasehormonally upregulated neu tumor-associated kinaseserine/threonine protein kinase MAK-V
Modification date2020031320200313
UniProtAcc

P58658

Main function of 5'-partner protein: FUNCTION: Binds heparin. {ECO:0000269|PubMed:19470522}.

P57058

Main function of 5'-partner protein:
Ensembl transtripts involved in fusion geneENST idsENST00000300255, ENST00000382699, 
ENST00000401402, ENST00000485488, 
ENST00000465574, ENST00000270112, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 7 X 8=6729 X 9 X 5=405
# samples 139
** MAII scorelog2(13/672*10)=-2.36994960975031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/405*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: EVA1C [Title/Abstract] AND HUNK [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: EVA1C [Title/Abstract] AND HUNK [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EVA1C(33840156)-HUNK(33318348), # samples:1
Anticipated loss of major functional domain due to fusion event.EVA1C-HUNK 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.
EVA1C-HUNK 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.
EVA1C-HUNK 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.
EVA1C-HUNK 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


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/chr21:33840156/chr21:33318348)
- 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 EVA1C (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 HUNK (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)
ENST00000300255EVA1Cchr2133840156+ENST00000270112HUNKchr2133318348+752211074432641732
ENST00000401402EVA1Cchr2133840156+ENST00000270112HUNKchr2133318348+72188031392337732
ENST00000382699EVA1Cchr2133840156+ENST00000270112HUNKchr2133318348+72017861222320732

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
ENST00000300255ENST00000270112EVA1Cchr2133840156+HUNKchr2133318348+0.0024475630.99755245
ENST00000401402ENST00000270112EVA1Cchr2133840156+HUNKchr2133318348+0.0024790260.997521
ENST00000382699ENST00000270112EVA1Cchr2133840156+HUNKchr2133318348+0.0024663890.99753356

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 EVA1C-HUNK

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
EVA1Cchr2133840156HUNKchr21333183481107221DICSSKAERLPPFDFGLSNCAGILGY
EVA1Cchr2133840156HUNKchr2133318348786221DICSSKAERLPPFDFGLSNCAGILGY
EVA1Cchr2133840156HUNKchr2133318348803221DICSSKAERLPPFDFGLSNCAGILGY

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Potential FusionNeoAntigen Information of EVA1C-HUNK 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.
EVA1C-HUNK_33840156_33318348.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)
EVA1C-HUNKchr2133840156chr21333183481107HLA-B44:03AERLPPFDF0.99220.8386615
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:22RLPPFDFGL0.98970.5088817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:11RLPPFDFGL0.98840.6201817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:60RLPPFDFGL0.98760.5541817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:67RLPPFDFGL0.98730.5629817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:30RLPPFDFGL0.98730.5629817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:24RLPPFDFGL0.98730.5629817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:04RLPPFDFGL0.98610.6833817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:21RLPPFDFGL0.98550.6714817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:17RLPPFDFGL0.98390.5643817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:27RLPPFDFGL0.98180.5839817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:13RLPPFDFGL0.98080.7072817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:38RLPPFDFGL0.97380.7286817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:29RLPPFDFGL0.94580.568817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:35RLPPFDFGL0.94230.5953817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:20RLPPFDFGL0.92840.5693817
EVA1C-HUNKchr2133840156chr21333183481107HLA-B18:01AERLPPFDF0.74120.902615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B27:04ERLPPFDFGL0.99980.6997717
EVA1C-HUNKchr2133840156chr21333183481107HLA-B27:05ERLPPFDFGL0.99980.5899717
EVA1C-HUNKchr2133840156chr21333183481107HLA-B39:01ERLPPFDFGL0.99630.8667717
EVA1C-HUNKchr2133840156chr21333183481107HLA-B38:02ERLPPFDFGL0.99360.9476717
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:07RLPPFDFGL0.98740.6124817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:01RLPPFDFGL0.98730.5629817
EVA1C-HUNKchr2133840156chr21333183481107HLA-C01:17RLPPFDFGL0.66230.9816817
EVA1C-HUNKchr2133840156chr21333183481107HLA-C07:13RLPPFDFGL0.61020.9535817
EVA1C-HUNKchr2133840156chr21333183481107HLA-C07:29RLPPFDFGL0.58020.9591817
EVA1C-HUNKchr2133840156chr21333183481107HLA-C01:30RLPPFDFGL0.40850.9817817
EVA1C-HUNKchr2133840156chr21333183481107HLA-B39:12ERLPPFDFGL0.99550.8724717
EVA1C-HUNKchr2133840156chr21333183481107HLA-B27:03ERLPPFDFGL0.99430.6272717
EVA1C-HUNKchr2133840156chr21333183481107HLA-B73:01ERLPPFDFGL0.97520.6098717
EVA1C-HUNKchr2133840156chr21333183481107HLA-B44:07AERLPPFDF0.99220.8386615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B44:26AERLPPFDF0.99220.8386615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B44:13AERLPPFDF0.99220.8386615
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:14RLPPFDFGL0.98610.5657817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A02:06RLPPFDFGL0.98550.6714817
EVA1C-HUNKchr2133840156chr21333183481107HLA-A32:01RLPPFDFGL0.96930.9736817
EVA1C-HUNKchr2133840156chr21333183481107HLA-B40:04AERLPPFDF0.94660.7292615
EVA1C-HUNKchr2133840156chr21333183481107HLA-C01:03RLPPFDFGL0.750.9787817
EVA1C-HUNKchr2133840156chr21333183481107HLA-B18:08AERLPPFDF0.74420.9096615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B18:05AERLPPFDF0.74120.902615
EVA1C-HUNKchr2133840156chr21333183481107HLA-C01:02RLPPFDFGL0.67220.9802817
EVA1C-HUNKchr2133840156chr21333183481107HLA-B18:03AERLPPFDF0.62070.8978615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B18:11AERLPPFDF0.60310.8747615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B15:53AERLPPFDF0.24150.821615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B41:03AERLPPFDF0.14250.6422615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B15:54AERLPPFDF0.080.7921615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B48:02AERLPPFDF0.04030.8327615
EVA1C-HUNKchr2133840156chr21333183481107HLA-B27:06ERLPPFDFGL0.99980.6643717
EVA1C-HUNKchr2133840156chr21333183481107HLA-B27:09ERLPPFDFGL0.99970.5667717
EVA1C-HUNKchr2133840156chr21333183481107HLA-B39:31ERLPPFDFGL0.99680.8674717

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Potential FusionNeoAntigen Information of EVA1C-HUNK 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.

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)

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Fusion breakpoint peptide structures of EVA1C-HUNK

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
173AERLPPFDFGLSNCEVA1CHUNKchr2133840156chr21333183481107

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of EVA1C-HUNK

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-B14:023BVN173AERLPPFDFGLSNC-7.9962-8.1096
HLA-B14:023BVN173AERLPPFDFGLSNC-5.70842-6.74372
HLA-B52:013W39173AERLPPFDFGLSNC-6.83737-6.95077
HLA-B52:013W39173AERLPPFDFGLSNC-4.4836-5.5189
HLA-A11:014UQ2173AERLPPFDFGLSNC-10.0067-10.1201
HLA-A11:014UQ2173AERLPPFDFGLSNC-9.03915-10.0745
HLA-A24:025HGA173AERLPPFDFGLSNC-6.56204-6.67544
HLA-A24:025HGA173AERLPPFDFGLSNC-5.42271-6.45801
HLA-B44:053DX8173AERLPPFDFGLSNC-7.85648-8.89178
HLA-B44:053DX8173AERLPPFDFGLSNC-5.3978-5.5112
HLA-A02:016TDR173AERLPPFDFGLSNC-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of EVA1C-HUNK

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
EVA1C-HUNKchr2133840156chr2133318348615AERLPPFDFCAGAGCGGCTCCCCCCTTTCGACTTTG
EVA1C-HUNKchr2133840156chr2133318348717ERLPPFDFGLAGCGGCTCCCCCCTTTCGACTTTGGTTTGA
EVA1C-HUNKchr2133840156chr2133318348817RLPPFDFGLGGCTCCCCCCTTTCGACTTTGGTTTGA

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

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Information of the samples that have these potential fusion neoantigens of EVA1C-HUNK

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
BRCAEVA1C-HUNKchr2133840156ENST00000300255chr2133318348ENST00000270112TCGA-E9-A22H-01A

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Potential target of CAR-T therapy development for EVA1C-HUNK

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 EVA1C-HUNK

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 EVA1C-HUNK

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