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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-SERINC1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PTPRK-SERINC1
FusionPDB ID: 70461
FusionGDB2.0 ID: 70461
HgeneTgene
Gene symbol

PTPRK

SERINC1

Gene ID

5796

57515

Gene nameprotein tyrosine phosphatase receptor type Kserine incorporator 1
SynonymsR-PTP-kappaTDE1L|TDE2|TMS-2|TMS2
Cytomap

6q22.33

6q22.31

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 phosphaserine incorporator 1tumor differentially expressed protein 2
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000524481, ENST00000368207, 
ENST00000368210, ENST00000368213, 
ENST00000368215, ENST00000368226, 
ENST00000368227, ENST00000525459, 
ENST00000532331, 
ENST00000339697, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score36 X 18 X 16=1036812 X 10 X 5=600
# samples 4814
** MAII scorelog2(48/10368*10)=-4.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/600*10)=-2.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: PTPRK [Title/Abstract] AND SERINC1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PTPRK [Title/Abstract] AND SERINC1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PTPRK(128841403)-SERINC1(122779826), # samples:1
Anticipated loss of major functional domain due to fusion event.PTPRK-SERINC1 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-SERINC1 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/chr6:128841403/chr6:122779826)
- 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 SERINC1 (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)
ENST00000368226PTPRKchr6128841403-ENST00000339697SERINC1chr6122779826-34294162001738512
ENST00000368227PTPRKchr6128841403-ENST00000339697SERINC1chr6122779826-34804672511789512
ENST00000532331PTPRKchr6128841403-ENST00000339697SERINC1chr6122779826-323121821540512
ENST00000368213PTPRKchr6128841403-ENST00000339697SERINC1chr6122779826-33383251091647512
ENST00000368210PTPRKchr6128841403-ENST00000339697SERINC1chr6122779826-33713581421680512
ENST00000368215PTPRKchr6128841403-ENST00000339697SERINC1chr6122779826-3113100101422470
ENST00000368207PTPRKchr6128841403-ENST00000339697SERINC1chr6122779826-33383251091647512
ENST00000525459PTPRKchr6128841403-ENST00000339697SERINC1chr6122779826-33423291131651512

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
ENST00000368226ENST00000339697PTPRKchr6128841403-SERINC1chr6122779826-0.000482020.99951804
ENST00000368227ENST00000339697PTPRKchr6128841403-SERINC1chr6122779826-0.0005052790.9994947
ENST00000532331ENST00000339697PTPRKchr6128841403-SERINC1chr6122779826-0.0004163650.99958366
ENST00000368213ENST00000339697PTPRKchr6128841403-SERINC1chr6122779826-0.0004519950.999548
ENST00000368210ENST00000339697PTPRKchr6128841403-SERINC1chr6122779826-0.0004767970.99952316
ENST00000368215ENST00000339697PTPRKchr6128841403-SERINC1chr6122779826-0.0003490930.99965096
ENST00000368207ENST00000339697PTPRKchr6128841403-SERINC1chr6122779826-0.0004519950.999548
ENST00000525459ENST00000339697PTPRKchr6128841403-SERINC1chr6122779826-0.0004535150.99954647

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-SERINC1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PTPRKchr6128841403SERINC1chr612277982610029LGLSWDRPKASSPQIPCLCGSAPCLL
PTPRKchr6128841403SERINC1chr612277982621871LGLSWDRPKASSPQIPCLCGSAPCLL
PTPRKchr6128841403SERINC1chr612277982632571LGLSWDRPKASSPQIPCLCGSAPCLL
PTPRKchr6128841403SERINC1chr612277982632971LGLSWDRPKASSPQIPCLCGSAPCLL
PTPRKchr6128841403SERINC1chr612277982635871LGLSWDRPKASSPQIPCLCGSAPCLL
PTPRKchr6128841403SERINC1chr612277982641671LGLSWDRPKASSPQIPCLCGSAPCLL
PTPRKchr6128841403SERINC1chr612277982646771LGLSWDRPKASSPQIPCLCGSAPCLL

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Potential FusionNeoAntigen Information of PTPRK-SERINC1 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-SERINC1_128841403_122779826.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-SERINC1chr6128841403chr6122779826325HLA-B07:10RPKASSPQI0.99940.5065615
PTPRK-SERINC1chr6128841403chr6122779826325HLA-B08:09RPKASSPQI0.80530.5816615
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C01:17SSPQIPCL0.98140.91381018
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C01:30SSPQIPCL0.95850.9181018
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C03:07ASSPQIPCL0.99950.9618918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C15:04ASSPQIPCL0.99930.7908918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C15:06ASSPQIPCL0.99930.8453918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C03:19ASSPQIPCL0.99910.9682918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C03:08ASSPQIPCL0.99910.8779918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C04:06ASSPQIPCL0.99650.7724918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C06:03ASSPQIPCL0.9850.9868918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C12:12ASSPQIPCL0.98490.8678918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C12:04ASSPQIPCL0.98420.9916918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-B07:12RPKASSPQI0.97970.59615
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C08:13ASSPQIPCL0.96730.9102918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C08:04ASSPQIPCL0.96730.9102918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C08:03ASSPQIPCL0.87490.9676918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C02:06ASSPQIPCL0.64920.9569918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-B39:10RPKASSPQI0.14710.7746615
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C01:03SSPQIPCL0.99720.7881018
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C01:02SSPQIPCL0.99210.91111018
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C15:09ASSPQIPCL0.99930.7908918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C03:04ASSPQIPCL0.99910.9864918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C03:03ASSPQIPCL0.99910.9864918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C15:05ASSPQIPCL0.99910.8527918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C15:02ASSPQIPCL0.9990.7527918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C03:17ASSPQIPCL0.99850.9753918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C03:05ASSPQIPCL0.9980.925918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C03:06ASSPQIPCL0.99210.9842918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C16:04ASSPQIPCL0.9910.9587918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-B57:02ASSPQIPCL0.98680.8191918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C12:03ASSPQIPCL0.9860.9629918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C16:02ASSPQIPCL0.97680.9892918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C16:01ASSPQIPCL0.95870.9634918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C07:04ASSPQIPCL0.94220.9037918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C08:01ASSPQIPCL0.87490.9676918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-B35:13ASSPQIPCL0.72880.8432918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-B35:13RPKASSPQI0.52210.7979615
PTPRK-SERINC1chr6128841403chr6122779826325HLA-C17:01ASSPQIPCL0.51280.8423918
PTPRK-SERINC1chr6128841403chr6122779826325HLA-B67:01RPKASSPQI0.25860.5919615
PTPRK-SERINC1chr6128841403chr6122779826325HLA-B07:13ASSPQIPCL0.16420.7965918

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Potential FusionNeoAntigen Information of PTPRK-SERINC1 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-SERINC1

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
8087RPKASSPQIPCLCGPTPRKSERINC1chr6128841403chr6122779826325

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PTPRK-SERINC1

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-B14:023BVN8087RPKASSPQIPCLCG-6.22331-6.33671
HLA-B14:023BVN8087RPKASSPQIPCLCG-3.23169-4.26699
HLA-B52:013W398087RPKASSPQIPCLCG-5.99251-6.10591
HLA-B52:013W398087RPKASSPQIPCLCG-5.58627-6.62157
HLA-A24:025HGA8087RPKASSPQIPCLCG-8.46925-8.58265
HLA-A24:025HGA8087RPKASSPQIPCLCG-4.53449-5.56979
HLA-B44:053DX88087RPKASSPQIPCLCG-7.79058-7.90398
HLA-B44:053DX88087RPKASSPQIPCLCG-4.31019-5.34549

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Vaccine Design for the FusionNeoAntigens of PTPRK-SERINC1

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-SERINC1chr6128841403chr61227798261018SSPQIPCLTCTCCGCAGATACCATGTTTGTGT
PTPRK-SERINC1chr6128841403chr6122779826615RPKASSPQICCCAAGGCCAGTTCTCCGCAGATACCA
PTPRK-SERINC1chr6128841403chr6122779826918ASSPQIPCLAGTTCTCCGCAGATACCATGTTTGTGT

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-SERINC1

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
ESCAPTPRK-SERINC1chr6128841403ENST00000368207chr6122779826ENST00000339697TCGA-L5-A8NT

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Potential target of CAR-T therapy development for PTPRK-SERINC1

check button Predicted 3D structure. We used RoseTTAFold.
364_PTPRK-SERINC1_e0be5_pred.pdb


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
TgeneSERINC1chr6:128841403chr6:122779826ENST00000339697010124_1440454.0TransmembraneHelical
TgeneSERINC1chr6:128841403chr6:122779826ENST00000339697010152_1720454.0TransmembraneHelical
TgeneSERINC1chr6:128841403chr6:122779826ENST00000339697010198_2180454.0TransmembraneHelical
TgeneSERINC1chr6:128841403chr6:122779826ENST00000339697010232_2520454.0TransmembraneHelical
TgeneSERINC1chr6:128841403chr6:122779826ENST00000339697010260_2800454.0TransmembraneHelical
TgeneSERINC1chr6:128841403chr6:122779826ENST00000339697010310_3300454.0TransmembraneHelical
TgeneSERINC1chr6:128841403chr6:122779826ENST00000339697010388_4080454.0TransmembraneHelical
TgeneSERINC1chr6:128841403chr6:122779826ENST0000033969701040_600454.0TransmembraneHelical
TgeneSERINC1chr6:128841403chr6:122779826ENST00000339697010427_4470454.0TransmembraneHelical
TgeneSERINC1chr6:128841403chr6:122779826ENST0000033969701089_1090454.0TransmembraneHelical

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
PTPRKchr6128841403ENST00000368207SERINC1chr6122779826ENST00000339697
PTPRKchr6128841403ENST00000368215SERINC1chr6122779826ENST00000339697
PTPRKchr6128841403ENST00000532331SERINC1chr6122779826ENST00000339697

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Related Drugs to PTPRK-SERINC1

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-SERINC1

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