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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:PLEC-BOP1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PLEC-BOP1
FusionPDB ID: 66118
FusionGDB2.0 ID: 66118
HgeneTgene
Gene symbol

PLEC

BOP1

Gene ID

5339

23246

Gene nameplectinBOP1 ribosomal biogenesis factor
SynonymsEBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|LGMDR17|PCN|PLEC1|PLEC1b|PLTN-
Cytomap

8q24.3

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionplectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDaribosome biogenesis protein BOP1block of proliferation 1
Modification date2020031320200313
UniProtAcc

PLEC

Main function of 5'-partner protein: 4684

Q14137

Main function of 5'-partner protein: FUNCTION: Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. {ECO:0000255|HAMAP-Rule:MF_03027, ECO:0000269|PubMed:17353269, ECO:0000269|PubMed:24120868}.
Ensembl transtripts involved in fusion geneENST idsENST00000436759, ENST00000527096, 
ENST00000322810, ENST00000345136, 
ENST00000354589, ENST00000354958, 
ENST00000356346, ENST00000357649, 
ENST00000398774, 
ENST00000525016, 
ENST00000529231, ENST00000307404, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score26 X 19 X 12=59286 X 6 X 4=144
# samples 266
** MAII scorelog2(26/5928*10)=-4.51096191927738
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: PLEC [Title/Abstract] AND BOP1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PLEC [Title/Abstract] AND BOP1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BOP1(145500212)-PLEC(145012860), # samples:1
PLEC(145049345)-BOP1(145488131), # samples:1
Anticipated loss of major functional domain due to fusion event.PLEC-BOP1 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.
PLEC-BOP1 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.
BOP1-PLEC seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BOP1-PLEC seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgenePLEC

GO:0031581

hemidesmosome assembly

12482924



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/chr8:145500212/chr8:145012860)
- 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 PLEC (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 BOP1 (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)
ENST00000436759PLECchr8145049345-ENST00000307404BOP1chr8145488131-1559231541493479
ENST00000527096PLECchr8145049345-ENST00000307404BOP1chr8145488131-1521193161455479

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
ENST00000436759ENST00000307404PLECchr8145049345-BOP1chr8145488131-0.3057260.69427407
ENST00000527096ENST00000307404PLECchr8145049345-BOP1chr8145488131-0.319179480.6808206

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 PLEC-BOP1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PLECchr8145049345BOP1chr814548813119358VSWTQLSGRSFASQRLAWEQQEPGER
PLECchr8145049345BOP1chr814548813123158VSWTQLSGRSFASQRLAWEQQEPGER

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Potential FusionNeoAntigen Information of PLEC-BOP1 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.
PLEC-BOP1_145049345_145488131.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)
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:05GRSFASQRL0.99940.8853716
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:04GRSFASQRL0.99940.7305716
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:02GRSFASQRL0.99940.6309716
PLEC-BOP1chr8145049345chr8145488131231HLA-A24:23SFASQRLAW0.99150.6497918
PLEC-BOP1chr8145049345chr8145488131231HLA-A31:08SFASQRLAW0.98750.6856918
PLEC-BOP1chr8145049345chr8145488131231HLA-A24:25SFASQRLAW0.98530.7254918
PLEC-BOP1chr8145049345chr8145488131231HLA-A24:20SFASQRLAW0.9850.7229918
PLEC-BOP1chr8145049345chr8145488131231HLA-A24:15SFASQRLAW0.98420.7326918
PLEC-BOP1chr8145049345chr8145488131231HLA-A30:08RSFASQRLA0.98190.8066817
PLEC-BOP1chr8145049345chr8145488131231HLA-A24:31SFASQRLAW0.97850.7291918
PLEC-BOP1chr8145049345chr8145488131231HLA-A24:17SFASQRLAW0.97740.7023918
PLEC-BOP1chr8145049345chr8145488131231HLA-A32:13SFASQRLAW0.9730.9871918
PLEC-BOP1chr8145049345chr8145488131231HLA-A24:10SFASQRLAW0.94930.5951918
PLEC-BOP1chr8145049345chr8145488131231HLA-A31:02SGRSFASQR0.8570.5548615
PLEC-BOP1chr8145049345chr8145488131231HLA-B07:10GRSFASQRL0.01230.5213716
PLEC-BOP1chr8145049345chr8145488131231HLA-B57:01RSFASQRLAW0.99980.9898818
PLEC-BOP1chr8145049345chr8145488131231HLA-B58:02RSFASQRLAW0.99890.9643818
PLEC-BOP1chr8145049345chr8145488131231HLA-B58:01RSFASQRLAW0.99840.978818
PLEC-BOP1chr8145049345chr8145488131231HLA-B15:17RSFASQRLAW0.99830.913818
PLEC-BOP1chr8145049345chr8145488131231HLA-B15:16RSFASQRLAW0.99780.9378818
PLEC-BOP1chr8145049345chr8145488131231HLA-B57:03RSFASQRLAW0.9970.9921818
PLEC-BOP1chr8145049345chr8145488131231HLA-A31:08RSFASQRLAW0.99640.7502818
PLEC-BOP1chr8145049345chr8145488131231HLA-A32:13RSFASQRLAW0.98170.962818
PLEC-BOP1chr8145049345chr8145488131231HLA-B57:01GRSFASQRLAW0.99960.9751718
PLEC-BOP1chr8145049345chr8145488131231HLA-B57:01RSFASQRLAWE0.99760.9734819
PLEC-BOP1chr8145049345chr8145488131231HLA-B58:02GRSFASQRLAW0.99750.9109718
PLEC-BOP1chr8145049345chr8145488131231HLA-B58:02RSFASQRLAWE0.9930.8992819
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:14GRSFASQRL0.99940.8307716
PLEC-BOP1chr8145049345chr8145488131231HLA-C07:95GRSFASQRL0.99510.7127716
PLEC-BOP1chr8145049345chr8145488131231HLA-A24:02SFASQRLAW0.9850.7229918
PLEC-BOP1chr8145049345chr8145488131231HLA-B39:12GRSFASQRL0.9850.8435716
PLEC-BOP1chr8145049345chr8145488131231HLA-C07:05GRSFASQRL0.9820.9647716
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:03GRSFASQRL0.97790.9035716
PLEC-BOP1chr8145049345chr8145488131231HLA-C07:27GRSFASQRL0.96990.952716
PLEC-BOP1chr8145049345chr8145488131231HLA-C07:46GRSFASQRL0.95880.9162716
PLEC-BOP1chr8145049345chr8145488131231HLA-C07:19GRSFASQRL0.95450.7888716
PLEC-BOP1chr8145049345chr8145488131231HLA-C12:16GRSFASQRL0.0680.9496716
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:14GRSFASQRLA0.99880.7828717
PLEC-BOP1chr8145049345chr8145488131231HLA-C15:02RSFASQRL0.99790.8685816
PLEC-BOP1chr8145049345chr8145488131231HLA-C16:04FASQRLAW0.98480.98881018
PLEC-BOP1chr8145049345chr8145488131231HLA-C16:01FASQRLAW0.9610.98641018
PLEC-BOP1chr8145049345chr8145488131231HLA-B53:02FASQRLAW0.9470.79681018
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:08GRSFASQRL0.99940.7906716
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:10GRSFASQRL0.99930.8617716
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:06GRSFASQRL0.99920.7292716
PLEC-BOP1chr8145049345chr8145488131231HLA-B27:09GRSFASQRL0.99910.8558716
PLEC-BOP1chr8145049345chr8145488131231HLA-C07:01GRSFASQRL0.99660.7085716
PLEC-BOP1chr8145049345chr8145488131231HLA-A24:03SFASQRLAW0.99150.6497918
PLEC-BOP1chr8145049345chr8145488131231HLA-B39:31GRSFASQRL0.98470.8379716
PLEC-BOP1chr8145049345chr8145488131231HLA-A30:01RSFASQRLA0.98250.9211817
PLEC-BOP1chr8145049345chr8145488131231HLA-B15:13SFASQRLAW0.82190.8883918
PLEC-BOP1chr8145049345chr8145488131231HLA-C06:08GRSFASQRL0.70980.9879716
PLEC-BOP1chr8145049345chr8145488131231HLA-C07:22GRSFASQRL0.6880.6855716
PLEC-BOP1chr8145049345chr8145488131231HLA-C06:17GRSFASQRL0.09780.9892716
PLEC-BOP1chr8145049345chr8145488131231HLA-C06:02GRSFASQRL0.09780.9892716
PLEC-BOP1chr8145049345chr8145488131231HLA-C14:02SFASQRLAW0.00380.9813918
PLEC-BOP1chr8145049345chr8145488131231HLA-C14:03SFASQRLAW0.00380.9813918
PLEC-BOP1chr8145049345chr8145488131231HLA-B57:10RSFASQRLAW0.99980.9898818
PLEC-BOP1chr8145049345chr8145488131231HLA-B57:04RSFASQRLAW0.99940.7525818
PLEC-BOP1chr8145049345chr8145488131231HLA-B58:06RSFASQRLAW0.99840.9408818
PLEC-BOP1chr8145049345chr8145488131231HLA-A32:01RSFASQRLAW0.9980.9654818
PLEC-BOP1chr8145049345chr8145488131231HLA-B57:02RSFASQRLAW0.99090.9546818
PLEC-BOP1chr8145049345chr8145488131231HLA-B15:24RSFASQRLAW0.9870.9739818
PLEC-BOP1chr8145049345chr8145488131231HLA-B57:10GRSFASQRLAW0.99960.9751718
PLEC-BOP1chr8145049345chr8145488131231HLA-B57:10RSFASQRLAWE0.99760.9734819
PLEC-BOP1chr8145049345chr8145488131231HLA-B58:06GRSFASQRLAW0.99350.9226718
PLEC-BOP1chr8145049345chr8145488131231HLA-B58:06RSFASQRLAWE0.98790.8206819

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Potential FusionNeoAntigen Information of PLEC-BOP1 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 PLEC-BOP1

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
8607SGRSFASQRLAWEQPLECBOP1chr8145049345chr8145488131231

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PLEC-BOP1

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-B14:023BVN8607SGRSFASQRLAWEQ-7.14368-7.25548
HLA-B14:023BVN8607SGRSFASQRLAWEQ-6.90724-7.95034
HLA-B52:013W398607SGRSFASQRLAWEQ-7.67666-8.71976
HLA-B52:013W398607SGRSFASQRLAWEQ-5.5221-5.6339
HLA-A11:014UQ28607SGRSFASQRLAWEQ-8.37369-9.41679
HLA-A11:014UQ28607SGRSFASQRLAWEQ-6.26273-6.37453
HLA-A24:025HGA8607SGRSFASQRLAWEQ-7.6158-8.6589
HLA-A24:025HGA8607SGRSFASQRLAWEQ-5.36701-5.47881
HLA-B44:053DX88607SGRSFASQRLAWEQ-8.09865-8.21045
HLA-B44:053DX88607SGRSFASQRLAWEQ-5.97829-7.02139

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Vaccine Design for the FusionNeoAntigens of PLEC-BOP1

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
PLEC-BOP1chr8145049345chr81454881311018FASQRLAWGCATCGCAGCGCTTGGCGTGGGAA
PLEC-BOP1chr8145049345chr8145488131615SGRSFASQRGGGCGGTCATTCGCATCGCAGCGCTTG
PLEC-BOP1chr8145049345chr8145488131716GRSFASQRLCGGTCATTCGCATCGCAGCGCTTGGCG
PLEC-BOP1chr8145049345chr8145488131717GRSFASQRLACGGTCATTCGCATCGCAGCGCTTGGCGTGG
PLEC-BOP1chr8145049345chr8145488131718GRSFASQRLAWCGGTCATTCGCATCGCAGCGCTTGGCGTGGGAA
PLEC-BOP1chr8145049345chr8145488131816RSFASQRLTCATTCGCATCGCAGCGCTTGGCG
PLEC-BOP1chr8145049345chr8145488131817RSFASQRLATCATTCGCATCGCAGCGCTTGGCGTGG
PLEC-BOP1chr8145049345chr8145488131818RSFASQRLAWTCATTCGCATCGCAGCGCTTGGCGTGGGAA
PLEC-BOP1chr8145049345chr8145488131819RSFASQRLAWETCATTCGCATCGCAGCGCTTGGCGTGGGAACAG
PLEC-BOP1chr8145049345chr8145488131918SFASQRLAWTTCGCATCGCAGCGCTTGGCGTGGGAA

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 PLEC-BOP1

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
BRCAPLEC-BOP1chr8145049345ENST00000436759chr8145488131ENST00000307404TCGA-OL-A5D6-01A

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Potential target of CAR-T therapy development for PLEC-BOP1

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 PLEC-BOP1

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 PLEC-BOP1

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