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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:PCYOX1-CEL

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PCYOX1-CEL
FusionPDB ID: 63548
FusionGDB2.0 ID: 63548
HgeneTgene
Gene symbol

PCYOX1

CEL

Gene ID

51449

1056

Gene nameprenylcysteine oxidase 1carboxyl ester lipase
SynonymsPCL1BAL|BSDL|BSSL|CELL|CEase|FAP|FAPP|LIPA|MODY8
Cytomap

2p13.3

9q34.13

Type of geneprotein-codingprotein-coding
Descriptionprenylcysteine oxidase 1prenylcysteine lyasebile salt-activated lipasebile salt-dependent lipase, oncofetal isoformbucelipasecarboxyl ester hydrolasecarboxyl ester lipase (bile salt-stimulated lipase)cholesterol esterasefetoacinar pancreatic proteinlysophospholipase, pancreaticsterol estera
Modification date2020031320200313
UniProtAcc.

Q9NYQ7

Main function of 5'-partner protein: FUNCTION: Receptor that may have an important role in cell/cell signaling during nervous system formation.
Ensembl transtripts involved in fusion geneENST idsENST00000264441, ENST00000433351, 
ENST00000505044, ENST00000545138, 
ENST00000351304, ENST00000372080, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 3 X 2=245 X 6 X 4=120
# samples 46
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: PCYOX1 [Title/Abstract] AND CEL [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PCYOX1 [Title/Abstract] AND CEL [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PCYOX1(70488361)-CEL(135937365), # samples:1
Anticipated loss of major functional domain due to fusion event.PCYOX1-CEL 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.
PCYOX1-CEL 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
HgenePCYOX1

GO:0030327

prenylated protein catabolic process

10585463

TgeneCEL

GO:0006707

cholesterol catabolic process

12031288

TgeneCEL

GO:0030157

pancreatic juice secretion

1854805



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/chr2:70488361/chr9:135937365)
- 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 PCYOX1 (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 CEL (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)
ENST00000505044PCYOX1chr270488361-ENST00000351304CELchr9135937365+27765902162678820
ENST00000505044PCYOX1chr270488361-ENST00000372080CELchr9135937365+29745902162876886
ENST00000433351PCYOX1chr270488361-ENST00000351304CELchr9135937365+2690504282592854
ENST00000433351PCYOX1chr270488361-ENST00000372080CELchr9135937365+2888504282790920
ENST00000264441PCYOX1chr270488361-ENST00000351304CELchr9135937365+2678492162580854
ENST00000264441PCYOX1chr270488361-ENST00000372080CELchr9135937365+2876492162778920
ENST00000545138PCYOX1chr270488361-ENST00000351304CELchr9135937365+26164301102518802
ENST00000545138PCYOX1chr270488361-ENST00000372080CELchr9135937365+28144301102716868

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
ENST00000505044ENST00000351304PCYOX1chr270488361-CELchr9135937365+0.0035072790.9964927
ENST00000505044ENST00000372080PCYOX1chr270488361-CELchr9135937365+0.0026023060.99739766
ENST00000433351ENST00000351304PCYOX1chr270488361-CELchr9135937365+0.001476680.9985233
ENST00000433351ENST00000372080PCYOX1chr270488361-CELchr9135937365+0.0009451640.99905485
ENST00000264441ENST00000351304PCYOX1chr270488361-CELchr9135937365+0.001365170.99863476
ENST00000264441ENST00000372080PCYOX1chr270488361-CELchr9135937365+0.0008924430.99910754
ENST00000545138ENST00000351304PCYOX1chr270488361-CELchr9135937365+0.0031045250.99689543
ENST00000545138ENST00000372080PCYOX1chr270488361-CELchr9135937365+0.0022895380.99771047

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 PCYOX1-CEL

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PCYOX1chr270488361CELchr9135937365430106MHMWVEDVLDKFMRATQRLMLTMGRL
PCYOX1chr270488361CELchr9135937365492158MHMWVEDVLDKFMRATQRLMLTMGRL
PCYOX1chr270488361CELchr9135937365504158MHMWVEDVLDKFMRATQRLMLTMGRL
PCYOX1chr270488361CELchr9135937365590124MHMWVEDVLDKFMRATQRLMLTMGRL

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Potential FusionNeoAntigen Information of PCYOX1-CEL 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.
PCYOX1-CEL_70488361_135937365.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)
PCYOX1-CELchr270488361chr9135937365492HLA-B27:04MRATQRLML0.99970.60221221
PCYOX1-CELchr270488361chr9135937365492HLA-B27:05MRATQRLML0.99970.71651221
PCYOX1-CELchr270488361chr9135937365492HLA-B14:01MRATQRLML0.99850.56861221
PCYOX1-CELchr270488361chr9135937365492HLA-B14:02MRATQRLML0.99850.56861221
PCYOX1-CELchr270488361chr9135937365492HLA-B39:01MRATQRLML0.9980.79991221
PCYOX1-CELchr270488361chr9135937365492HLA-B39:06MRATQRLML0.9970.67711221
PCYOX1-CELchr270488361chr9135937365492HLA-B38:02MRATQRLML0.99010.89581221
PCYOX1-CELchr270488361chr9135937365492HLA-B15:10MRATQRLML0.98280.51411221
PCYOX1-CELchr270488361chr9135937365492HLA-B08:09DVLDKFMRA0.62580.7462615
PCYOX1-CELchr270488361chr9135937365492HLA-B27:14MRATQRLML0.99970.66371221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:05MRATQRLML0.99920.96761221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:95MRATQRLML0.99890.68891221
PCYOX1-CELchr270488361chr9135937365492HLA-B39:09MRATQRLML0.99850.60041221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:27MRATQRLML0.9980.96241221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:29MRATQRLML0.99780.9111221
PCYOX1-CELchr270488361chr9135937365492HLA-B39:12MRATQRLML0.99760.80041221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:13MRATQRLML0.99570.88081221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:80MRATQRLML0.99130.96221221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:67MRATQRLML0.99130.96221221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:46MRATQRLML0.9910.88391221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:19MRATQRLML0.9890.71851221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:10MRATQRLML0.98350.96131221
PCYOX1-CELchr270488361chr9135937365492HLA-B27:03MRATQRLML0.98290.76151221
PCYOX1-CELchr270488361chr9135937365492HLA-B15:04FMRATQRLM0.96210.92631120
PCYOX1-CELchr270488361chr9135937365492HLA-B14:03MRATQRLML0.66880.69991221
PCYOX1-CELchr270488361chr9135937365492HLA-C12:16MRATQRLML0.33190.96981221
PCYOX1-CELchr270488361chr9135937365492HLA-C06:17MRATQRLM0.95940.99171220
PCYOX1-CELchr270488361chr9135937365492HLA-C06:02MRATQRLM0.95940.99171220
PCYOX1-CELchr270488361chr9135937365492HLA-B27:10MRATQRLML0.99970.7861221
PCYOX1-CELchr270488361chr9135937365492HLA-B27:06MRATQRLML0.99970.61691221
PCYOX1-CELchr270488361chr9135937365492HLA-B27:08MRATQRLML0.99970.56421221
PCYOX1-CELchr270488361chr9135937365492HLA-B27:09MRATQRLML0.99950.69061221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:01MRATQRLML0.9990.66211221
PCYOX1-CELchr270488361chr9135937365492HLA-B39:31MRATQRLML0.99780.80131221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:17MRATQRLML0.99760.97111221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:02MRATQRLML0.99130.96221221
PCYOX1-CELchr270488361chr9135937365492HLA-A68:02DVLDKFMRA0.99050.7339615
PCYOX1-CELchr270488361chr9135937365492HLA-C06:08MRATQRLML0.98930.97231221
PCYOX1-CELchr270488361chr9135937365492HLA-C07:04MRATQRLML0.97830.93591221
PCYOX1-CELchr270488361chr9135937365492HLA-A69:01DVLDKFMRA0.96430.7105615
PCYOX1-CELchr270488361chr9135937365492HLA-C03:67FMRATQRLM0.92170.97741120
PCYOX1-CELchr270488361chr9135937365492HLA-C07:22MRATQRLML0.88160.7971221
PCYOX1-CELchr270488361chr9135937365492HLA-C03:67MRATQRLML0.82720.97451221
PCYOX1-CELchr270488361chr9135937365492HLA-B15:09MRATQRLML0.82490.58241221
PCYOX1-CELchr270488361chr9135937365492HLA-C06:06MRATQRLML0.63660.98951221
PCYOX1-CELchr270488361chr9135937365492HLA-C06:02MRATQRLML0.44850.98961221
PCYOX1-CELchr270488361chr9135937365492HLA-C06:17MRATQRLML0.44850.98961221
PCYOX1-CELchr270488361chr9135937365492HLA-C06:06KFMRATQRL0.20730.97741019
PCYOX1-CELchr270488361chr9135937365492HLA-C14:02KFMRATQRL0.14790.94851019
PCYOX1-CELchr270488361chr9135937365492HLA-C14:03KFMRATQRL0.14790.94851019

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Potential FusionNeoAntigen Information of PCYOX1-CEL 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.
PCYOX1-CEL_70488361_135937365.msa

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)
PCYOX1-CELchr270488361chr9135937365492DRB1-1499DKFMRATQRLMLTMG924

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Fusion breakpoint peptide structures of PCYOX1-CEL

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
1462DVLDKFMRATQRLMPCYOX1CELchr270488361chr9135937365492

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PCYOX1-CEL

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-B14:023BVN1462DVLDKFMRATQRLM-7.9962-8.1096
HLA-B14:023BVN1462DVLDKFMRATQRLM-5.70842-6.74372
HLA-B52:013W391462DVLDKFMRATQRLM-6.83737-6.95077
HLA-B52:013W391462DVLDKFMRATQRLM-4.4836-5.5189
HLA-A11:014UQ21462DVLDKFMRATQRLM-10.0067-10.1201
HLA-A11:014UQ21462DVLDKFMRATQRLM-9.03915-10.0745
HLA-A24:025HGA1462DVLDKFMRATQRLM-6.56204-6.67544
HLA-A24:025HGA1462DVLDKFMRATQRLM-5.42271-6.45801
HLA-B44:053DX81462DVLDKFMRATQRLM-7.85648-8.89178
HLA-B44:053DX81462DVLDKFMRATQRLM-5.3978-5.5112
HLA-A02:016TDR1462DVLDKFMRATQRLM-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of PCYOX1-CEL

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
PCYOX1-CELchr270488361chr91359373651019KFMRATQRLGTTCATGAGGGCCACCCAGAGGCTGAT
PCYOX1-CELchr270488361chr91359373651120FMRATQRLMCATGAGGGCCACCCAGAGGCTGATGCT
PCYOX1-CELchr270488361chr91359373651220MRATQRLMGAGGGCCACCCAGAGGCTGATGCT
PCYOX1-CELchr270488361chr91359373651221MRATQRLMLGAGGGCCACCCAGAGGCTGATGCTCAC
PCYOX1-CELchr270488361chr9135937365615DVLDKFMRACGTGTTAGACAAGTTCATGAGGGCCAC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
PCYOX1-CELchr270488361chr9135937365924DKFMRATQRLMLTMGCAAGTTCATGAGGGCCACCCAGAGGCTGATGCTCACCATGGGGCG

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Information of the samples that have these potential fusion neoantigens of PCYOX1-CEL

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
N/APCYOX1-CELchr270488361ENST00000264441chr9135937365ENST00000351304M54994

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Potential target of CAR-T therapy development for PCYOX1-CEL

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 PCYOX1-CEL

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 PCYOX1-CEL

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