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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:PEAK1-PSTPIP1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PEAK1-PSTPIP1
FusionPDB ID: 64203
FusionGDB2.0 ID: 64203
HgeneTgene
Gene symbol

PEAK1

PSTPIP1

Gene ID

79834

9051

Gene namepseudopodium enriched atypical kinase 1proline-serine-threonine phosphatase interacting protein 1
SynonymsSGK269CD2BP1|CD2BP1L|CD2BP1S|H-PIP|PAPAS|PSTPIP
Cytomap

15q24.3

15q24.3

Type of geneprotein-codingprotein-coding
Descriptioninactive tyrosine-protein kinase PEAK1NKF3 kinase family membersugen kinase 269tyrosine-protein kinase SgK269proline-serine-threonine phosphatase-interacting protein 1CD2 antigen-binding protein 1CD2 cytoplasmic tail-binding proteinCD2-binding protein 1PEST phosphatase-interacting protein 1truncated proline-serine-threonine phosphatase interacting protein 1
Modification date2020031320200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000312493, ENST00000560626, 
ENST00000558305, ENST00000567337, 
ENST00000557995, ENST00000267939, 
ENST00000379595, ENST00000558012, 
ENST00000559295, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score20 X 14 X 12=33603 X 3 X 2=18
# samples 223
** MAII scorelog2(22/3360*10)=-3.93288580414146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Fusion gene context

PubMed: PEAK1 [Title/Abstract] AND PSTPIP1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PEAK1 [Title/Abstract] AND PSTPIP1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PEAK1(77471132)-PSTPIP1(77317625), # samples:2
Anticipated loss of major functional domain due to fusion event.PEAK1-PSTPIP1 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.
PEAK1-PSTPIP1 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.
PEAK1-PSTPIP1 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.
PEAK1-PSTPIP1 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.
PEAK1-PSTPIP1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted 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
HgenePEAK1

GO:0016477

cell migration

20534451

HgenePEAK1

GO:0034446

substrate adhesion-dependent cell spreading

20534451

HgenePEAK1

GO:0046777

protein autophosphorylation

20534451

HgenePEAK1

GO:0051893

regulation of focal adhesion assembly

23105102



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/chr15:77471132/chr15:77317625)
- 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 PEAK1 (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 PSTPIP1 (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)
ENST00000312493PEAK1chr1577471132-ENST00000558012PSTPIP1chr1577317625+4611341627944541391
ENST00000312493PEAK1chr1577471132-ENST00000267939PSTPIP1chr1577317625+4552341627943971372
ENST00000312493PEAK1chr1577471132-ENST00000379595PSTPIP1chr1577317625+4601341627944451388
ENST00000312493PEAK1chr1577471132-ENST00000559295PSTPIP1chr1577317625+4553341627943971372

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
ENST00000312493ENST00000558012PEAK1chr1577471132-PSTPIP1chr1577317625+0.0014373210.99856275
ENST00000312493ENST00000267939PEAK1chr1577471132-PSTPIP1chr1577317625+0.0014633870.9985366
ENST00000312493ENST00000379595PEAK1chr1577471132-PSTPIP1chr1577317625+0.0010556490.99894434
ENST00000312493ENST00000559295PEAK1chr1577471132-PSTPIP1chr1577317625+0.0014604030.99853957

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 PEAK1-PSTPIP1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PEAK1chr1577471132PSTPIP1chr157731762534161035ALLQDSEKKRSHSSPSQIPKKILSSL

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Potential FusionNeoAntigen Information of PEAK1-PSTPIP1 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.
PEAK1-PSTPIP1_77471132_77317625.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)
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B39:01SHSSPSQI0.99830.82991018
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B38:01SHSSPSQI0.98710.93581018
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B38:02SHSSPSQI0.9850.94321018
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:08HSSPSQIPK0.99590.56261120
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B15:17RSHSSPSQI0.98430.8805918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:08RSHSSPSQI0.98310.7646918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B15:16RSHSSPSQI0.98290.6688918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B39:06SHSSPSQIP0.97180.68761019
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B45:01SEKKRSHSS0.84810.7719514
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B50:02SEKKRSHSS0.71710.5277514
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B13:02RSHSSPSQI0.42870.6473918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B52:01RSHSSPSQI0.21250.8671918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:08HSSPSQIPKK0.99280.55141121
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:08SHSSPSQIPK0.88360.55551020
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:08RSHSSPSQIPK0.99960.6323920
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B39:05SHSSPSQI0.97860.80411018
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C15:04RSHSSPSQI0.99920.8945918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C15:06RSHSSPSQI0.99720.9125918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B39:05SHSSPSQIP0.90790.79621019
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C06:03RSHSSPSQI0.76960.9895918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C12:04RSHSSPSQI0.76860.9923918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C02:06RSHSSPSQI0.75570.957918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C12:12RSHSSPSQI0.65010.8541918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B38:05SHSSPSQI0.98710.93581018
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B39:11SHSSPSQI0.9850.73651018
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C15:09RSHSSPSQI0.99920.8945918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C15:02RSHSSPSQI0.99850.8589918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C15:05RSHSSPSQI0.99750.917918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:01HSSPSQIPK0.9960.7011120
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B58:06RSHSSPSQI0.98860.7638918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:01RSHSSPSQI0.9850.8488918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-C16:02RSHSSPSQI0.9270.9946918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:01SSPSQIPKK0.91130.63851221
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B15:09SHSSPSQIP0.78550.56351019
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B39:11SHSSPSQIP0.66550.77981019
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-B07:13RSHSSPSQI0.30380.8173918
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:01HSSPSQIPKK0.99260.70151121
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:01SHSSPSQIPK0.88960.69521020
PEAK1-PSTPIP1chr1577471132chr15773176253416HLA-A30:01RSHSSPSQIPK0.99960.7792920

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Potential FusionNeoAntigen Information of PEAK1-PSTPIP1 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 PEAK1-PSTPIP1

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
1840EKKRSHSSPSQIPKPEAK1PSTPIP1chr1577471132chr15773176253416

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PEAK1-PSTPIP1

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-B14:023BVN1840EKKRSHSSPSQIPK-7.15543-7.26883
HLA-B14:023BVN1840EKKRSHSSPSQIPK-4.77435-5.80965
HLA-B52:013W391840EKKRSHSSPSQIPK-6.80875-6.92215
HLA-B52:013W391840EKKRSHSSPSQIPK-4.20386-5.23916
HLA-A11:014UQ21840EKKRSHSSPSQIPK-7.5194-8.5547
HLA-A11:014UQ21840EKKRSHSSPSQIPK-6.9601-7.0735
HLA-A24:025HGA1840EKKRSHSSPSQIPK-7.52403-7.63743
HLA-A24:025HGA1840EKKRSHSSPSQIPK-5.82433-6.85963
HLA-B27:056PYJ1840EKKRSHSSPSQIPK-3.28285-4.31815
HLA-B44:053DX81840EKKRSHSSPSQIPK-5.91172-6.94702
HLA-B44:053DX81840EKKRSHSSPSQIPK-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of PEAK1-PSTPIP1

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
PEAK1-PSTPIP1chr1577471132chr15773176251018SHSSPSQIGATTCTCAGCTCCCTGAGGGCCTC
PEAK1-PSTPIP1chr1577471132chr15773176251019SHSSPSQIPGATTCTCAGCTCCCTGAGGGCCTCCTT
PEAK1-PSTPIP1chr1577471132chr15773176251020SHSSPSQIPKGATTCTCAGCTCCCTGAGGGCCTCCTTTGA
PEAK1-PSTPIP1chr1577471132chr15773176251120HSSPSQIPKTCTCAGCTCCCTGAGGGCCTCCTTTGA
PEAK1-PSTPIP1chr1577471132chr15773176251121HSSPSQIPKKTCTCAGCTCCCTGAGGGCCTCCTTTGACTC
PEAK1-PSTPIP1chr1577471132chr15773176251221SSPSQIPKKCAGCTCCCTGAGGGCCTCCTTTGACTC
PEAK1-PSTPIP1chr1577471132chr1577317625514SEKKRSHSSACAGATTCCTAAAAAGATTCTCAGCTC
PEAK1-PSTPIP1chr1577471132chr1577317625918RSHSSPSQIAAAGATTCTCAGCTCCCTGAGGGCCTC
PEAK1-PSTPIP1chr1577471132chr1577317625920RSHSSPSQIPKAAAGATTCTCAGCTCCCTGAGGGCCTCCTTTGA

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 PEAK1-PSTPIP1

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
SKCMPEAK1-PSTPIP1chr1577471132ENST00000312493chr1577317625ENST00000267939TCGA-DA-A3F5-06A

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Potential target of CAR-T therapy development for PEAK1-PSTPIP1

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 PEAK1-PSTPIP1

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 PEAK1-PSTPIP1

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