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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:BOP1-TONSL

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BOP1-TONSL
FusionPDB ID: 10037
FusionGDB2.0 ID: 10037
HgeneTgene
Gene symbol

BOP1

TONSL

Gene ID

23246

4796

Gene nameBOP1 ribosomal biogenesis factortonsoku like, DNA repair protein
Synonyms-IKBR|NFKBIL2|SEMDSP
Cytomap

8q24.3

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionribosome biogenesis protein BOP1block of proliferation 1tonsoku-like proteinI-kappa-B-related proteinNF-kappa-B inhibitor-like protein 2ikappaBRinhibitor of kappa B-related proteinnuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2
Modification date2020031320200313
UniProtAcc

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 idsENST00000307404, ENST00000529231, 
ENST00000525016, 
ENST00000409379, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 7 X 8=5047 X 7 X 4=196
# samples 128
** MAII scorelog2(12/504*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/196*10)=-1.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

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

Fusion neoantigen context

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

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BOP1(145500211)-TONSL(145655920), # samples:1
BOP1(145500212)-TONSL(145655920), # samples:1
Anticipated loss of major functional domain due to fusion event.BOP1-TONSL 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.
BOP1-TONSL 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-TONSL seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BOP1-TONSL seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BOP1-TONSL 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


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/chr8:145500211/chr8:145655920)
- 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 BOP1 (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 TONSL (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)
ENST00000529231BOP1chr8145500211-ENST00000409379TONSLchr8145655920-107341084737217
ENST00000529231BOP1chr8145500212-ENST00000409379TONSLchr8145655920-107341084737217

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
ENST00000529231ENST00000409379BOP1chr8145500211-TONSLchr8145655920-0.180176120.81982386
ENST00000529231ENST00000409379BOP1chr8145500212-TONSLchr8145655920-0.180176120.81982386

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 BOP1-TONSL

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
BOP1chr8145500211TONSLchr8145655920410108GLGMSMRRTALMRRCLSLCPSLISLD
BOP1chr8145500212TONSLchr8145655920410108GLGMSMRRTALMRRCLSLCPSLISLD

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Potential FusionNeoAntigen Information of BOP1-TONSL 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.
BOP1-TONSL_145500211_145655920.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)
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:01LMRRCLSL0.99920.84711018
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:01TALMRRCL0.99750.772816
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:01ALMRRCLSL0.99670.9039918
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:09ALMRRCLSL0.99420.8028918
BOP1-TONSLchr8145500211chr8145655920410HLA-A02:13ALMRRCLSL0.96950.8724918
BOP1-TONSLchr8145500211chr8145655920410HLA-A02:27ALMRRCLSL0.96660.8038918
BOP1-TONSLchr8145500211chr8145655920410HLA-A02:38ALMRRCLSL0.92770.8426918
BOP1-TONSLchr8145500211chr8145655920410HLA-A02:04ALMRRCLSL0.91680.7253918
BOP1-TONSLchr8145500211chr8145655920410HLA-A02:17ALMRRCLSL0.90140.6762918
BOP1-TONSLchr8145500211chr8145655920410HLA-B27:04RRCLSLCPSL0.99980.71481222
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:01TALMRRCLSL0.99550.8909818
BOP1-TONSLchr8145500211chr8145655920410HLA-B27:14RRTALMRRC0.99740.7728615
BOP1-TONSLchr8145500211chr8145655920410HLA-B27:14RRCLSLCPSL0.99990.62911222
BOP1-TONSLchr8145500211chr8145655920410HLA-B27:03RRCLSLCPSL0.99730.63981222
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:18LMRRCLSL0.99920.84711018
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:18TALMRRCL0.99750.772816
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:18ALMRRCLSL0.99670.9039918
BOP1-TONSLchr8145500211chr8145655920410HLA-B27:10MRRTALMRR0.96920.7799514
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:12ALMRRCLSL0.78940.934918
BOP1-TONSLchr8145500211chr8145655920410HLA-B27:08RRCLSLCPSL0.99990.56761222
BOP1-TONSLchr8145500211chr8145655920410HLA-B27:10RRCLSLCPSL0.99980.75811222
BOP1-TONSLchr8145500211chr8145655920410HLA-B27:06RRCLSLCPSL0.99970.7031222
BOP1-TONSLchr8145500211chr8145655920410HLA-B27:09RRCLSLCPSL0.99960.54351222
BOP1-TONSLchr8145500211chr8145655920410HLA-B08:18TALMRRCLSL0.99550.8909818

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Potential FusionNeoAntigen Information of BOP1-TONSL 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 BOP1-TONSL

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
8200RRTALMRRCLSLCPBOP1TONSLchr8145500211chr8145655920410

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

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-B14:023BVN8200RRTALMRRCLSLCP-7.9962-8.1096
HLA-B14:023BVN8200RRTALMRRCLSLCP-5.70842-6.74372
HLA-B52:013W398200RRTALMRRCLSLCP-6.83737-6.95077
HLA-B52:013W398200RRTALMRRCLSLCP-4.4836-5.5189
HLA-A11:014UQ28200RRTALMRRCLSLCP-10.0067-10.1201
HLA-A11:014UQ28200RRTALMRRCLSLCP-9.03915-10.0745
HLA-A24:025HGA8200RRTALMRRCLSLCP-6.56204-6.67544
HLA-A24:025HGA8200RRTALMRRCLSLCP-5.42271-6.45801
HLA-B44:053DX88200RRTALMRRCLSLCP-7.85648-8.89178
HLA-B44:053DX88200RRTALMRRCLSLCP-5.3978-5.5112
HLA-A02:016TDR8200RRTALMRRCLSLCP-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of BOP1-TONSL

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
BOP1-TONSLchr8145500211chr81456559201018LMRRCLSLGATGAGGAGATGTCTCTCTCTGTG
BOP1-TONSLchr8145500211chr81456559201222RRCLSLCPSLGAGATGTCTCTCTCTGTGCCCCTCACTCAT
BOP1-TONSLchr8145500211chr8145655920514MRRTALMRRGCGGAGGACAGCTCTGATGAGGAGATG
BOP1-TONSLchr8145500211chr8145655920615RRTALMRRCGAGGACAGCTCTGATGAGGAGATGTCT
BOP1-TONSLchr8145500211chr8145655920816TALMRRCLAGCTCTGATGAGGAGATGTCTCTC
BOP1-TONSLchr8145500211chr8145655920818TALMRRCLSLAGCTCTGATGAGGAGATGTCTCTCTCTGTG
BOP1-TONSLchr8145500211chr8145655920918ALMRRCLSLTCTGATGAGGAGATGTCTCTCTCTGTG

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 BOP1-TONSL

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
STADBOP1-TONSLchr8145500211ENST00000529231chr8145655920ENST00000409379TCGA-VQ-A91N

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

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 BOP1-TONSL

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 BOP1-TONSL

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