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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:ELK3-NUP107

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ELK3-NUP107
FusionPDB ID: 26200
FusionGDB2.0 ID: 26200
HgeneTgene
Gene symbol

ELK3

NUP107

Gene ID

2004

57122

Gene nameETS transcription factor ELK3nucleoporin 107
SynonymsERP|NET|SAP-2|SAP2NPHS11|NUP84|ODG6|ODG6; GAMOS7
Cytomap

12q23.1

12q15

Type of geneprotein-codingprotein-coding
DescriptionETS domain-containing protein Elk-3ELK3, ETS transcription factorELK3, ETS-domain protein (SRF accessory protein 2)ETS-related protein ERPETS-related protein NETSRF accessory protein 2serum response factor accessory protein 2nuclear pore complex protein Nup107nucleoporin 107kDa
Modification date2020031320200313
UniProtAcc

P41970

Main function of 5'-partner protein: FUNCTION: May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element.

P57740

Main function of 5'-partner protein: FUNCTION: Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance (PubMed:12552102, PubMed:15229283, PubMed:30179222). Required for the assembly of peripheral proteins into the NPC (PubMed:15229283, PubMed:12552102). May anchor NUP62 to the NPC (PubMed:15229283). Involved in nephrogenesis (PubMed:30179222). {ECO:0000269|PubMed:12552102, ECO:0000269|PubMed:15229283, ECO:0000269|PubMed:30179222}.
Ensembl transtripts involved in fusion geneENST idsENST00000228741, ENST00000549529, 
ENST00000552142, 
ENST00000378905, 
ENST00000401003, ENST00000539906, 
ENST00000229179, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 5 X 6=39027 X 22 X 9=5346
# samples 1337
** MAII scorelog2(13/390*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(37/5346*10)=-3.85286266172677
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ELK3 [Title/Abstract] AND NUP107 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ELK3 [Title/Abstract] AND NUP107 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ELK3(96641512)-NUP107(69124890), # samples:1
Anticipated loss of major functional domain due to fusion event.ELK3-NUP107 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.
ELK3-NUP107 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
HgeneELK3

GO:0045892

negative regulation of transcription, DNA-templated

12933792

HgeneELK3

GO:0045944

positive regulation of transcription by RNA polymerase II

12788937

TgeneNUP107

GO:0006406

mRNA export from nucleus

11684705



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/chr12:96641512/chr12:69124890)
- 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 ELK3 (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 NUP107 (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)
ENST00000228741ELK3chr1296641512+ENST00000229179NUP107chr1269124890+291513283202371683

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
ENST00000228741ENST00000229179ELK3chr1296641512+NUP107chr1269124890+0.0006859650.99931407

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 ELK3-NUP107

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ELK3chr1296641512NUP107chr12691248901328336PSGSLTPAFFTAQLLIREKHTNLIAF

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Potential FusionNeoAntigen Information of ELK3-NUP107 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.
ELK3-NUP107_96641512_69124890.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)
ELK3-NUP107chr1296641512chr12691248901328HLA-B07:10TPAFFTAQL0.99330.5655514
ELK3-NUP107chr1296641512chr12691248901328HLA-B07:02TPAFFTAQL0.99280.5174514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:03TPAFFTAQL0.97770.9075514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:01TPAFFTAQL0.97570.9004514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:08TPAFFTAQL0.96940.9199514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:05TPAFFTAQL0.93640.7045514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:04TPAFFTAQL0.9070.9625514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:02TPAFFTAQL0.9070.9625514
ELK3-NUP107chr1296641512chr12691248901328HLA-B81:01TPAFFTAQL0.38720.5086514
ELK3-NUP107chr1296641512chr12691248901328HLA-B82:01TPAFFTAQL0.20820.5151514
ELK3-NUP107chr1296641512chr12691248901328HLA-A31:02AFFTAQLLIR0.96230.7102717
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:03TPAFFTAQLL0.92650.8691515
ELK3-NUP107chr1296641512chr12691248901328HLA-B81:01LTPAFFTAQL0.80260.5872414
ELK3-NUP107chr1296641512chr12691248901328HLA-A02:17SLTPAFFTAQL0.92220.6825314
ELK3-NUP107chr1296641512chr12691248901328HLA-B81:01SLTPAFFTAQL0.84760.6792314
ELK3-NUP107chr1296641512chr12691248901328HLA-B07:12TPAFFTAQL0.97210.6702514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:12TPAFFTAQL0.9070.9625514
ELK3-NUP107chr1296641512chr12691248901328HLA-B39:10TPAFFTAQL0.88040.9767514
ELK3-NUP107chr1296641512chr12691248901328HLA-B07:04TPAFFTAQL0.87290.5628514
ELK3-NUP107chr1296641512chr12691248901328HLA-B42:02TPAFFTAQL0.86320.863514
ELK3-NUP107chr1296641512chr12691248901328HLA-B39:09TPAFFTAQL0.8530.9338514
ELK3-NUP107chr1296641512chr12691248901328HLA-B51:07TPAFFTAQL0.82260.774514
ELK3-NUP107chr1296641512chr12691248901328HLA-B14:03TPAFFTAQL0.81150.909514
ELK3-NUP107chr1296641512chr12691248901328HLA-B42:01TPAFFTAQL0.80640.8552514
ELK3-NUP107chr1296641512chr12691248901328HLA-C01:30LTPAFFTAQL0.96260.9737414
ELK3-NUP107chr1296641512chr12691248901328HLA-C01:17LTPAFFTAQL0.9340.9791414
ELK3-NUP107chr1296641512chr12691248901328HLA-A02:02SLTPAFFTAQL0.98220.6526314
ELK3-NUP107chr1296641512chr12691248901328HLA-C14:02AFFTAQLL0.88360.9794715
ELK3-NUP107chr1296641512chr12691248901328HLA-C14:03AFFTAQLL0.88360.9794715
ELK3-NUP107chr1296641512chr12691248901328HLA-B07:22TPAFFTAQL0.99280.5174514
ELK3-NUP107chr1296641512chr12691248901328HLA-B07:09TPAFFTAQL0.99210.5238514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:23TPAFFTAQL0.9770.9067514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:77TPAFFTAQL0.97570.9004514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:13TPAFFTAQL0.97070.9139514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:30TPAFFTAQL0.94170.8239514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:17TPAFFTAQL0.94170.8239514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:09TPAFFTAQL0.9070.9625514
ELK3-NUP107chr1296641512chr12691248901328HLA-B67:01TPAFFTAQL0.88950.9512514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:24TPAFFTAQL0.880.8828514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:11TPAFFTAQL0.83160.9283514
ELK3-NUP107chr1296641512chr12691248901328HLA-B78:02TPAFFTAQL0.8120.54514
ELK3-NUP107chr1296641512chr12691248901328HLA-A69:01TPAFFTAQL0.67260.721514
ELK3-NUP107chr1296641512chr12691248901328HLA-B82:02TPAFFTAQL0.20820.5151514
ELK3-NUP107chr1296641512chr12691248901328HLA-B18:07TPAFFTAQL0.09850.8504514
ELK3-NUP107chr1296641512chr12691248901328HLA-B35:43TPAFFTAQL0.06560.8842514
ELK3-NUP107chr1296641512chr12691248901328HLA-B15:08TPAFFTAQL0.05720.8801514
ELK3-NUP107chr1296641512chr12691248901328HLA-B15:11TPAFFTAQL0.04640.8631514
ELK3-NUP107chr1296641512chr12691248901328HLA-C01:02LTPAFFTAQL0.94190.9777414
ELK3-NUP107chr1296641512chr12691248901328HLA-B67:01TPAFFTAQLL0.74660.8781515

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Potential FusionNeoAntigen Information of ELK3-NUP107 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 ELK3-NUP107

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
6480PAFFTAQLLIREKHELK3NUP107chr1296641512chr12691248901328

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ELK3-NUP107

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-B14:023BVN6480PAFFTAQLLIREKH-7.9962-8.1096
HLA-B14:023BVN6480PAFFTAQLLIREKH-5.70842-6.74372
HLA-B52:013W396480PAFFTAQLLIREKH-6.83737-6.95077
HLA-B52:013W396480PAFFTAQLLIREKH-4.4836-5.5189
HLA-A11:014UQ26480PAFFTAQLLIREKH-10.0067-10.1201
HLA-A11:014UQ26480PAFFTAQLLIREKH-9.03915-10.0745
HLA-A24:025HGA6480PAFFTAQLLIREKH-6.56204-6.67544
HLA-A24:025HGA6480PAFFTAQLLIREKH-5.42271-6.45801
HLA-B44:053DX86480PAFFTAQLLIREKH-7.85648-8.89178
HLA-B44:053DX86480PAFFTAQLLIREKH-5.3978-5.5112
HLA-A02:016TDR6480PAFFTAQLLIREKH-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of ELK3-NUP107

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
ELK3-NUP107chr1296641512chr1269124890314SLTPAFFTAQLTCCCTCACCCCAGCCTTCTTCACCGCACAGCTT
ELK3-NUP107chr1296641512chr1269124890414LTPAFFTAQLCTCACCCCAGCCTTCTTCACCGCACAGCTT
ELK3-NUP107chr1296641512chr1269124890514TPAFFTAQLACCCCAGCCTTCTTCACCGCACAGCTT
ELK3-NUP107chr1296641512chr1269124890515TPAFFTAQLLACCCCAGCCTTCTTCACCGCACAGCTTTTA
ELK3-NUP107chr1296641512chr1269124890715AFFTAQLLGCCTTCTTCACCGCACAGCTTTTA
ELK3-NUP107chr1296641512chr1269124890717AFFTAQLLIRGCCTTCTTCACCGCACAGCTTTTAATAAGA

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 ELK3-NUP107

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
SARCELK3-NUP107chr1296641512ENST00000228741chr1269124890ENST00000229179TCGA-WK-A8XO-01A

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Potential target of CAR-T therapy development for ELK3-NUP107

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 ELK3-NUP107

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 ELK3-NUP107

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
TgeneNUP107C4225228NEPHROTIC SYNDROME, TYPE 112CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneNUP107C0018051Gonadal Dysgenesis1GENOMICS_ENGLAND
TgeneNUP107C0685837Pure Gonadal Dysgenesis, 46, XX1ORPHANET
TgeneNUP107C0795949Galloway Mowat syndrome1ORPHANET
TgeneNUP107C0949595Gonadal Dysgenesis, 46,XX1ORPHANET
TgeneNUP107C1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1ORPHANET
TgeneNUP107C4748084OVARIAN DYSGENESIS 61UNIPROT