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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:NUP210-XPC

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NUP210-XPC
FusionPDB ID: 61034
FusionGDB2.0 ID: 61034
HgeneTgene
Gene symbol

NUP210

XPC

Gene ID

23225

7508

Gene namenucleoporin 210XPC complex subunit, DNA damage recognition and repair factor
SynonymsGP210|POM210RAD4|XP3|XPCC|p125
Cytomap

3p25.1

3p25.1

Type of geneprotein-codingprotein-coding
Descriptionnuclear pore membrane glycoprotein 210nuclear envelope pore membrane protein POM 210nuclear pore protein gp210nucleoporin 210kDanucleoporin Nup210pore membrane protein of 210 kDaDNA repair protein complementing XP-C cellsmutant xeroderma pigmentosum group Cxeroderma pigmentosum, complementation group C
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000254508, ENST00000485755, 
ENST00000285021, ENST00000449060, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 7 X 5=3155 X 4 X 4=80
# samples 115
** MAII scorelog2(11/315*10)=-1.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: NUP210 [Title/Abstract] AND XPC [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: NUP210 [Title/Abstract] AND XPC [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NUP210(13364809)-XPC(14214562), # samples:1
Anticipated loss of major functional domain due to fusion event.NUP210-XPC 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.
NUP210-XPC 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.
NUP210-XPC 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.
NUP210-XPC 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
TgeneXPC

GO:0000715

nucleotide-excision repair, DNA damage recognition

10873465|19941824

TgeneXPC

GO:0006289

nucleotide-excision repair

8168482|9734359|11259578

TgeneXPC

GO:0045893

positive regulation of transcription, DNA-templated

29973595|31527837

TgeneXPC

GO:0070914

UV-damage excision repair

8077226



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/chr3:13364809/chr3:14214562)
- 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 NUP210 (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 XPC (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)
ENST00000254508NUP210chr313364809-ENST00000285021XPCchr314214562-836548518375702495
ENST00000254508NUP210chr313364809-ENST00000449060XPCchr314214562-746048518374592459

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
ENST00000254508ENST00000285021NUP210chr313364809-XPCchr314214562-0.0020334620.9979665
ENST00000254508ENST00000449060NUP210chr313364809-XPCchr314214562-0.0024889350.997511

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 NUP210-XPC

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
NUP210chr313364809XPCchr31421456248511589VIVAVGDRSSNLRDAFEDEKPPKKSL

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Potential FusionNeoAntigen Information of NUP210-XPC 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.
NUP210-XPC_13364809_14214562.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)
NUP210-XPCchr313364809chr3142145624851HLA-B58:02RSSNLRDAF0.99120.7379716
NUP210-XPCchr313364809chr3142145624851HLA-B57:03RSSNLRDAF0.9750.8149716
NUP210-XPCchr313364809chr3142145624851HLA-B73:01DRSSNLRDA0.97590.6079615
NUP210-XPCchr313364809chr3142145624851HLA-C16:01SSNLRDAF0.98210.9166816
NUP210-XPCchr313364809chr3142145624851HLA-B57:04RSSNLRDAF0.99420.7106716
NUP210-XPCchr313364809chr3142145624851HLA-B58:06RSSNLRDAF0.9940.6015716
NUP210-XPCchr313364809chr3142145624851HLA-B57:02RSSNLRDAF0.94870.7151716
NUP210-XPCchr313364809chr3142145624851HLA-C16:01RSSNLRDAF0.73870.979716

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Potential FusionNeoAntigen Information of NUP210-XPC 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 NUP210-XPC

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
1384DRSSNLRDAFEDEKNUP210XPCchr313364809chr3142145624851

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of NUP210-XPC

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-B14:023BVN1384DRSSNLRDAFEDEK-7.15543-7.26883
HLA-B14:023BVN1384DRSSNLRDAFEDEK-4.77435-5.80965
HLA-B52:013W391384DRSSNLRDAFEDEK-6.80875-6.92215
HLA-B52:013W391384DRSSNLRDAFEDEK-4.20386-5.23916
HLA-A11:014UQ21384DRSSNLRDAFEDEK-7.5194-8.5547
HLA-A11:014UQ21384DRSSNLRDAFEDEK-6.9601-7.0735
HLA-A24:025HGA1384DRSSNLRDAFEDEK-7.52403-7.63743
HLA-A24:025HGA1384DRSSNLRDAFEDEK-5.82433-6.85963
HLA-B27:056PYJ1384DRSSNLRDAFEDEK-3.28285-4.31815
HLA-B44:053DX81384DRSSNLRDAFEDEK-5.91172-6.94702
HLA-B44:053DX81384DRSSNLRDAFEDEK-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of NUP210-XPC

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
NUP210-XPCchr313364809chr314214562615DRSSNLRDAACAGAAGCTCTAACCTGAGAGATGCCT
NUP210-XPCchr313364809chr314214562716RSSNLRDAFGAAGCTCTAACCTGAGAGATGCCTTTG
NUP210-XPCchr313364809chr314214562816SSNLRDAFGCTCTAACCTGAGAGATGCCTTTG

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 NUP210-XPC

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
UCSNUP210-XPCchr313364809ENST00000254508chr314214562ENST00000285021TCGA-N6-A4VG

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Potential target of CAR-T therapy development for NUP210-XPC

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 NUP210-XPC

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 NUP210-XPC

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