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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:PTPRK-EYS

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PTPRK-EYS
FusionPDB ID: 70440
FusionGDB2.0 ID: 70440
HgeneTgene
Gene symbol

PTPRK

EYS

Gene ID

5796

346007

Gene nameprotein tyrosine phosphatase receptor type Keyes shut homolog
SynonymsR-PTP-kappaC6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1
Cytomap

6q22.33

6q12

Type of geneprotein-codingprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase kappadJ480J14.2.1 (protein tyrosine phosphatase, receptor type, K (R-PTP-KAPPA, protein tyrosine phosphatase kappa , protein tyrosine phosphatase kappaprotein-tyrosine phosphatase kappaprotein-tyrosine phosphaprotein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog
Modification date2020032220200313
UniProtAcc.

Q5T1H1

Main function of 5'-partner protein: FUNCTION: Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity). {ECO:0000250|UniProtKB:B8JI71, ECO:0000269|PubMed:18836446}.
Ensembl transtripts involved in fusion geneENST idsENST00000368207, ENST00000368210, 
ENST00000368213, ENST00000368215, 
ENST00000368226, ENST00000368227, 
ENST00000525459, ENST00000532331, 
ENST00000524481, 
ENST00000342421, 
ENST00000370618, ENST00000393380, 
ENST00000486069, ENST00000370616, 
ENST00000370621, ENST00000503581, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score36 X 18 X 16=1036836 X 24 X 15=12960
# samples 4838
** MAII scorelog2(48/10368*10)=-4.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(38/12960*10)=-5.09192248944104
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: PTPRK [Title/Abstract] AND EYS [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PTPRK [Title/Abstract] AND EYS [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PTPRK(128841404)-EYS(65303202), # samples:1
Anticipated loss of major functional domain due to fusion event.PTPRK-EYS 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.
PTPRK-EYS 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.
PTPRK-EYS 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.
PTPRK-EYS 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
HgenePTPRK

GO:0006470

protein dephosphorylation

16263724

HgenePTPRK

GO:0007165

signal transduction

16849327

HgenePTPRK

GO:0007179

transforming growth factor beta receptor signaling pathway

15899872

HgenePTPRK

GO:0008285

negative regulation of cell proliferation

15899872|18276111

HgenePTPRK

GO:0010839

negative regulation of keratinocyte proliferation

16263724

HgenePTPRK

GO:0030336

negative regulation of cell migration

18276111

HgenePTPRK

GO:0034394

protein localization to cell surface

18276111

HgenePTPRK

GO:0034614

cellular response to reactive oxygen species

16849327

HgenePTPRK

GO:0034644

cellular response to UV

16849327

HgenePTPRK

GO:0045786

negative regulation of cell cycle

15899872

HgenePTPRK

GO:0045892

negative regulation of transcription, DNA-templated

18276111



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/chr6:128841404/chr6:65303202)
- 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 PTPRK (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 EYS (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)
ENST00000368226PTPRKchr6128841404-ENST00000503581EYSchr665303202-678341620061661988
ENST00000368226PTPRKchr6128841404-ENST00000370621EYSchr665303202-669041620062292009
ENST00000368226PTPRKchr6128841404-ENST00000370616EYSchr665303202-623041620062292010
ENST00000368227PTPRKchr6128841404-ENST00000503581EYSchr665303202-683446725162171988
ENST00000368227PTPRKchr6128841404-ENST00000370621EYSchr665303202-674146725162802009
ENST00000368227PTPRKchr6128841404-ENST00000370616EYSchr665303202-628146725162802010
ENST00000532331PTPRKchr6128841404-ENST00000503581EYSchr665303202-6585218259681988
ENST00000532331PTPRKchr6128841404-ENST00000370621EYSchr665303202-6492218260312009
ENST00000532331PTPRKchr6128841404-ENST00000370616EYSchr665303202-6032218260312010
ENST00000368213PTPRKchr6128841404-ENST00000503581EYSchr665303202-669232510960751988
ENST00000368213PTPRKchr6128841404-ENST00000370621EYSchr665303202-659932510961382009
ENST00000368213PTPRKchr6128841404-ENST00000370616EYSchr665303202-613932510961382010
ENST00000368210PTPRKchr6128841404-ENST00000503581EYSchr665303202-672535814261081988
ENST00000368210PTPRKchr6128841404-ENST00000370621EYSchr665303202-663235814261712009
ENST00000368210PTPRKchr6128841404-ENST00000370616EYSchr665303202-617235814261712010
ENST00000368215PTPRKchr6128841404-ENST00000503581EYSchr665303202-64671001058501946
ENST00000368215PTPRKchr6128841404-ENST00000370621EYSchr665303202-63741001059131967
ENST00000368215PTPRKchr6128841404-ENST00000370616EYSchr665303202-59141001059131968
ENST00000368207PTPRKchr6128841404-ENST00000503581EYSchr665303202-669232510960751988
ENST00000368207PTPRKchr6128841404-ENST00000370621EYSchr665303202-659932510961382009
ENST00000368207PTPRKchr6128841404-ENST00000370616EYSchr665303202-613932510961382010
ENST00000525459PTPRKchr6128841404-ENST00000503581EYSchr665303202-669632911360791988
ENST00000525459PTPRKchr6128841404-ENST00000370621EYSchr665303202-660332911361422009
ENST00000525459PTPRKchr6128841404-ENST00000370616EYSchr665303202-614332911361422010

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
ENST00000368226ENST00000503581PTPRKchr6128841404-EYSchr665303202-0.0003251230.9996749
ENST00000368226ENST00000370621PTPRKchr6128841404-EYSchr665303202-0.0005980490.9994019
ENST00000368226ENST00000370616PTPRKchr6128841404-EYSchr665303202-0.0007578720.9992422
ENST00000368227ENST00000503581PTPRKchr6128841404-EYSchr665303202-0.0003482610.9996518
ENST00000368227ENST00000370621PTPRKchr6128841404-EYSchr665303202-0.0006371210.9993629
ENST00000368227ENST00000370616PTPRKchr6128841404-EYSchr665303202-0.0008083250.9991917
ENST00000532331ENST00000503581PTPRKchr6128841404-EYSchr665303202-0.0002482660.99975175
ENST00000532331ENST00000370621PTPRKchr6128841404-EYSchr665303202-0.0004592920.9995407
ENST00000532331ENST00000370616PTPRKchr6128841404-EYSchr665303202-0.000596620.99940336
ENST00000368213ENST00000503581PTPRKchr6128841404-EYSchr665303202-0.0002909620.99970907
ENST00000368213ENST00000370621PTPRKchr6128841404-EYSchr665303202-0.0005356280.99946433
ENST00000368213ENST00000370616PTPRKchr6128841404-EYSchr665303202-0.0006870830.9993129
ENST00000368210ENST00000503581PTPRKchr6128841404-EYSchr665303202-0.0003070930.9996929
ENST00000368210ENST00000370621PTPRKchr6128841404-EYSchr665303202-0.000564540.9994355
ENST00000368210ENST00000370616PTPRKchr6128841404-EYSchr665303202-0.0007196390.9992804
ENST00000368215ENST00000503581PTPRKchr6128841404-EYSchr665303202-0.0002080450.9997919
ENST00000368215ENST00000370621PTPRKchr6128841404-EYSchr665303202-0.000387120.99961287
ENST00000368215ENST00000370616PTPRKchr6128841404-EYSchr665303202-0.0005234390.9994766
ENST00000368207ENST00000503581PTPRKchr6128841404-EYSchr665303202-0.0002909620.99970907
ENST00000368207ENST00000370621PTPRKchr6128841404-EYSchr665303202-0.0005356280.99946433
ENST00000368207ENST00000370616PTPRKchr6128841404-EYSchr665303202-0.0006870830.9993129
ENST00000525459ENST00000503581PTPRKchr6128841404-EYSchr665303202-0.0002925460.9997074
ENST00000525459ENST00000370621PTPRKchr6128841404-EYSchr665303202-0.0005385110.9994615
ENST00000525459ENST00000370616PTPRKchr6128841404-EYSchr665303202-0.0006909130.99930906

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 PTPRK-EYS

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PTPRKchr6128841404EYSchr66530320210029LGLSWDRPKASSPQTCSIGLLCGDEI
PTPRKchr6128841404EYSchr66530320221871LGLSWDRPKASSPQTCSIGLLCGDEI
PTPRKchr6128841404EYSchr66530320232571LGLSWDRPKASSPQTCSIGLLCGDEI
PTPRKchr6128841404EYSchr66530320232971LGLSWDRPKASSPQTCSIGLLCGDEI
PTPRKchr6128841404EYSchr66530320235871LGLSWDRPKASSPQTCSIGLLCGDEI
PTPRKchr6128841404EYSchr66530320241671LGLSWDRPKASSPQTCSIGLLCGDEI
PTPRKchr6128841404EYSchr66530320246771LGLSWDRPKASSPQTCSIGLLCGDEI

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Potential FusionNeoAntigen Information of PTPRK-EYS 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.
PTPRK-EYS_128841404_65303202.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)
PTPRK-EYSchr6128841404chr665303202325HLA-B07:02RPKASSPQT0.99550.5362615
PTPRK-EYSchr6128841404chr665303202325HLA-B35:04SPQTCSIGL0.69920.54531120
PTPRK-EYSchr6128841404chr665303202325HLA-B35:02SPQTCSIGL0.69920.54531120
PTPRK-EYSchr6128841404chr665303202325HLA-C01:30SSPQTCSI0.87050.89011018
PTPRK-EYSchr6128841404chr665303202325HLA-C01:17SSPQTCSI0.82630.86411018
PTPRK-EYSchr6128841404chr665303202325HLA-C15:06ASSPQTCSI0.99870.8302918
PTPRK-EYSchr6128841404chr665303202325HLA-B07:12RPKASSPQT0.85670.6522615
PTPRK-EYSchr6128841404chr665303202325HLA-B35:12SPQTCSIGL0.69920.54531120
PTPRK-EYSchr6128841404chr665303202325HLA-B39:10SPQTCSIGL0.6790.54991120
PTPRK-EYSchr6128841404chr665303202325HLA-C02:06ASSPQTCSI0.4810.9144918
PTPRK-EYSchr6128841404chr665303202325HLA-C01:17SSPQTCSIGL0.86720.88521020
PTPRK-EYSchr6128841404chr665303202325HLA-C01:03SSPQTCSI0.92190.77711018
PTPRK-EYSchr6128841404chr665303202325HLA-C01:02SSPQTCSI0.84290.86291018
PTPRK-EYSchr6128841404chr665303202325HLA-C15:02ASSPQTCSI0.99890.7078918
PTPRK-EYSchr6128841404chr665303202325HLA-C15:05ASSPQTCSI0.99860.8161918
PTPRK-EYSchr6128841404chr665303202325HLA-B07:22RPKASSPQT0.99550.5362615
PTPRK-EYSchr6128841404chr665303202325HLA-B07:09RPKASSPQT0.99450.534615
PTPRK-EYSchr6128841404chr665303202325HLA-C16:02ASSPQTCSI0.90810.982918
PTPRK-EYSchr6128841404chr665303202325HLA-B35:09SPQTCSIGL0.69920.54531120
PTPRK-EYSchr6128841404chr665303202325HLA-C01:03SSPQTCSIGL0.95940.7511020
PTPRK-EYSchr6128841404chr665303202325HLA-C01:02SSPQTCSIGL0.87370.88351020

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Potential FusionNeoAntigen Information of PTPRK-EYS 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 PTPRK-EYS

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
8088RPKASSPQTCSIGLPTPRKEYSchr6128841404chr665303202325

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PTPRK-EYS

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-B14:023BVN8088RPKASSPQTCSIGL-5.97758-6.09098
HLA-B14:023BVN8088RPKASSPQTCSIGL-5.15013-6.18543
HLA-B52:013W398088RPKASSPQTCSIGL-6.29935-6.41275
HLA-B52:013W398088RPKASSPQTCSIGL-6.07479-7.11009
HLA-A24:025HGA8088RPKASSPQTCSIGL-7.25246-8.28776
HLA-A24:025HGA8088RPKASSPQTCSIGL-6.23064-6.34404
HLA-B44:053DX88088RPKASSPQTCSIGL-4.66421-5.69951
HLA-B44:053DX88088RPKASSPQTCSIGL-4.52141-4.63481
HLA-A02:016TDR8088RPKASSPQTCSIGL-7.72945-7.84285

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Vaccine Design for the FusionNeoAntigens of PTPRK-EYS

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
PTPRK-EYSchr6128841404chr6653032021018SSPQTCSITCTCCGCAGACCTGCTCCATTGGG
PTPRK-EYSchr6128841404chr6653032021020SSPQTCSIGLTCTCCGCAGACCTGCTCCATTGGGCTTCTT
PTPRK-EYSchr6128841404chr6653032021120SPQTCSIGLCCGCAGACCTGCTCCATTGGGCTTCTT
PTPRK-EYSchr6128841404chr665303202615RPKASSPQTCCCAAGGCCAGTTCTCCGCAGACCTGC
PTPRK-EYSchr6128841404chr665303202918ASSPQTCSIAGTTCTCCGCAGACCTGCTCCATTGGG

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 PTPRK-EYS

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
UCECPTPRK-EYSchr6128841404ENST00000368207chr665303202ENST00000370616TCGA-AJ-A3IA-01A

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Potential target of CAR-T therapy development for PTPRK-EYS

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 PTPRK-EYS

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 PTPRK-EYS

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