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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-CPSF1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BOP1-CPSF1
FusionPDB ID: 10030
FusionGDB2.0 ID: 10030
HgeneTgene
Gene symbol

BOP1

CPSF1

Gene ID

23246

29894

Gene nameBOP1 ribosomal biogenesis factorcleavage and polyadenylation specific factor 1
Synonyms-CPSF160|HSU37012|P/cl.18
Cytomap

8q24.3

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionribosome biogenesis protein BOP1block of proliferation 1cleavage and polyadenylation specificity factor subunit 1CPSF 160 kDa subunitcleavage and polyadenylation specific factor 1, 160kDacleavage and polyadenylation specificity factor 160 kDa subunitpolyadenylation specificity factor
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}.

Q10570

Main function of 5'-partner protein: FUNCTION: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. This subunit is involved in the RNA recognition step of the polyadenylation reaction (PubMed:14749727). May play a role in eye morphogenesis and the development of retinal ganglion cell projections to the midbrain (By similarity). {ECO:0000250|UniProtKB:A0A0R4IC37, ECO:0000269|PubMed:14749727}.
Ensembl transtripts involved in fusion geneENST idsENST00000307404, ENST00000529231, 
ENST00000525016, 
ENST00000531727, 
ENST00000349769, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 7 X 8=5044 X 4 X 4=64
# samples 124
** MAII scorelog2(12/504*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: BOP1 [Title/Abstract] AND CPSF1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: BOP1 [Title/Abstract] AND CPSF1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BOP1(145500212)-CPSF1(145620570), # samples:1
Anticipated loss of major functional domain due to fusion event.BOP1-CPSF1 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-CPSF1 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-CPSF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BOP1-CPSF1 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/chr8:145500212/chr8:145620570)
- 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 CPSF1 (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)
ENST00000307404BOP1chr8145500212-ENST00000349769CPSF1chr8145620570-1739420301655541

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
ENST00000307404ENST00000349769BOP1chr8145500212-CPSF1chr8145620570-0.0171041470.98289585

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-CPSF1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
BOP1chr8145500212CPSF1chr8145620570420130IGDEYAEDSSDEEVYAVATSTNTPCA

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Potential FusionNeoAntigen Information of BOP1-CPSF1 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-CPSF1_145500212_145620570.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-CPSF1chr8145500212chr8145620570420HLA-A26:03EVYAVATST0.97910.84461221
BOP1-CPSF1chr8145500212chr8145620570420HLA-B45:01AEDSSDEEV0.96050.936514
BOP1-CPSF1chr8145500212chr8145620570420HLA-B50:02AEDSSDEEV0.95110.6928514
BOP1-CPSF1chr8145500212chr8145620570420HLA-A02:21SSDEEVYAV0.90880.7861817
BOP1-CPSF1chr8145500212chr8145620570420HLA-A02:60SSDEEVYAV0.89190.662817
BOP1-CPSF1chr8145500212chr8145620570420HLA-A02:35SSDEEVYAV0.81950.7169817
BOP1-CPSF1chr8145500212chr8145620570420HLA-A34:01EVYAVATST0.72060.63681221
BOP1-CPSF1chr8145500212chr8145620570420HLA-A34:05EVYAVATST0.72060.63681221
BOP1-CPSF1chr8145500212chr8145620570420HLA-B41:01AEDSSDEEV0.28130.9033514
BOP1-CPSF1chr8145500212chr8145620570420HLA-B39:13AEDSSDEEV0.00910.9503514
BOP1-CPSF1chr8145500212chr8145620570420HLA-B44:03AEDSSDEEVY0.96340.9473515
BOP1-CPSF1chr8145500212chr8145620570420HLA-B35:01YAEDSSDEEVY0.99560.8602415
BOP1-CPSF1chr8145500212chr8145620570420HLA-B45:01AEDSSDEEVYA0.99490.8477516
BOP1-CPSF1chr8145500212chr8145620570420HLA-B35:08YAEDSSDEEVY0.99450.8189415
BOP1-CPSF1chr8145500212chr8145620570420HLA-B41:01AEDSSDEEVYA0.97740.8724516
BOP1-CPSF1chr8145500212chr8145620570420HLA-C04:07SSDEEVYAV0.99990.8475817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C04:10SSDEEVYAV0.99990.8575817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C05:09SSDEEVYAV0.99990.9012817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C08:15SSDEEVYAV0.99980.9526817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C04:06SSDEEVYAV0.99580.8821817
BOP1-CPSF1chr8145500212chr8145620570420HLA-A02:07SSDEEVYAV0.88930.7044817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C08:13SSDEEVYAV0.83940.955817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C08:04SSDEEVYAV0.83940.955817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C08:03SSDEEVYAV0.46970.9826817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C02:06SSDEEVYAV0.21580.9499817
BOP1-CPSF1chr8145500212chr8145620570420HLA-B39:08AEDSSDEEV0.1090.8693514
BOP1-CPSF1chr8145500212chr8145620570420HLA-C08:15YAEDSSDEEV0.9990.9651414
BOP1-CPSF1chr8145500212chr8145620570420HLA-C04:01SSDEEVYAV0.99990.8475817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C18:01SSDEEVYAV0.99990.856817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C05:01SSDEEVYAV0.99990.9012817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C04:03SSDEEVYAV0.99990.8562817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C08:02SSDEEVYAV0.99980.9526817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C01:03SSDEEVYAV0.99980.9511817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C15:02SSDEEVYAV0.99660.8487817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C15:05SSDEEVYAV0.99480.8572817
BOP1-CPSF1chr8145500212chr8145620570420HLA-A69:01EVYAVATST0.94520.55211221
BOP1-CPSF1chr8145500212chr8145620570420HLA-A02:06SSDEEVYAV0.90880.7861817
BOP1-CPSF1chr8145500212chr8145620570420HLA-A02:14SSDEEVYAV0.90840.7236817
BOP1-CPSF1chr8145500212chr8145620570420HLA-B40:04AEDSSDEEV0.90430.7943514
BOP1-CPSF1chr8145500212chr8145620570420HLA-C03:06SSDEEVYAV0.7760.9937817
BOP1-CPSF1chr8145500212chr8145620570420HLA-A69:01SSDEEVYAV0.71250.9186817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C17:01SSDEEVYAV0.61970.9462817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C08:01SSDEEVYAV0.46970.9826817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C07:04SSDEEVYAV0.290.9617817
BOP1-CPSF1chr8145500212chr8145620570420HLA-B41:03AEDSSDEEV0.21180.5354514
BOP1-CPSF1chr8145500212chr8145620570420HLA-B07:13SSDEEVYAV0.00190.8036817
BOP1-CPSF1chr8145500212chr8145620570420HLA-C08:02YAEDSSDEEV0.9990.9651414
BOP1-CPSF1chr8145500212chr8145620570420HLA-B44:13AEDSSDEEVY0.96340.9473515
BOP1-CPSF1chr8145500212chr8145620570420HLA-B44:26AEDSSDEEVY0.96340.9473515
BOP1-CPSF1chr8145500212chr8145620570420HLA-B44:07AEDSSDEEVY0.96340.9473515
BOP1-CPSF1chr8145500212chr8145620570420HLA-B35:23YAEDSSDEEVY0.99570.8738415
BOP1-CPSF1chr8145500212chr8145620570420HLA-B35:77YAEDSSDEEVY0.99560.8602415

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Potential FusionNeoAntigen Information of BOP1-CPSF1 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.
BOP1-CPSF1_145500212_145620570.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)
BOP1-CPSF1chr8145500212chr8145620570420DRB1-0409GDEYAEDSSDEEVYA116
BOP1-CPSF1chr8145500212chr8145620570420DRB1-0409IGDEYAEDSSDEEVY015
BOP1-CPSF1chr8145500212chr8145620570420DRB1-0462GDEYAEDSSDEEVYA116
BOP1-CPSF1chr8145500212chr8145620570420DRB1-0462IGDEYAEDSSDEEVY015
BOP1-CPSF1chr8145500212chr8145620570420DRB1-0469SDEEVYAVATSTNTP924
BOP1-CPSF1chr8145500212chr8145620570420DRB1-0902SDEEVYAVATSTNTP924
BOP1-CPSF1chr8145500212chr8145620570420DRB1-1002SDEEVYAVATSTNTP924

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Fusion breakpoint peptide structures of BOP1-CPSF1

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
1617EDSSDEEVYAVATSBOP1CPSF1chr8145500212chr8145620570420

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of BOP1-CPSF1

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-B14:023BVN1617EDSSDEEVYAVATS-5.50071-6.53601
HLA-B14:023BVN1617EDSSDEEVYAVATS-5.44997-5.56337
HLA-B52:013W391617EDSSDEEVYAVATS-6.87928-6.99268
HLA-B52:013W391617EDSSDEEVYAVATS-3.95744-4.99274
HLA-A24:025HGA1617EDSSDEEVYAVATS-7.30598-7.41938
HLA-A24:025HGA1617EDSSDEEVYAVATS-5.09366-6.12896
HLA-B44:053DX81617EDSSDEEVYAVATS-5.64505-5.75845
HLA-B44:053DX81617EDSSDEEVYAVATS-4.1878-5.2231
HLA-A02:016TDR1617EDSSDEEVYAVATS-0.0912853-1.12659

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Vaccine Design for the FusionNeoAntigens of BOP1-CPSF1

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-CPSF1chr8145500212chr81456205701221EVYAVATSTGAGGTGTATGCTGTGGCCACCAGCACC
BOP1-CPSF1chr8145500212chr8145620570414YAEDSSDEEVTATGCGGAGGACAGCTCTGATGAGGAGGTG
BOP1-CPSF1chr8145500212chr8145620570415YAEDSSDEEVYTATGCGGAGGACAGCTCTGATGAGGAGGTGTAT
BOP1-CPSF1chr8145500212chr8145620570514AEDSSDEEVGCGGAGGACAGCTCTGATGAGGAGGTG
BOP1-CPSF1chr8145500212chr8145620570515AEDSSDEEVYGCGGAGGACAGCTCTGATGAGGAGGTGTAT
BOP1-CPSF1chr8145500212chr8145620570516AEDSSDEEVYAGCGGAGGACAGCTCTGATGAGGAGGTGTATGCT
BOP1-CPSF1chr8145500212chr8145620570817SSDEEVYAVAGCTCTGATGAGGAGGTGTATGCTGTG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
BOP1-CPSF1chr8145500212chr8145620570015IGDEYAEDSSDEEVYATTGGGGATGAGTATGCGGAGGACAGCTCTGATGAGGAGGTGTAT
BOP1-CPSF1chr8145500212chr8145620570116GDEYAEDSSDEEVYAGGGGATGAGTATGCGGAGGACAGCTCTGATGAGGAGGTGTATGCT
BOP1-CPSF1chr8145500212chr8145620570924SDEEVYAVATSTNTPTCTGATGAGGAGGTGTATGCTGTGGCCACCAGCACCAACACGCCG

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Information of the samples that have these potential fusion neoantigens of BOP1-CPSF1

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-CPSF1chr8145500212ENST00000307404chr8145620570ENST00000349769TCGA-BR-8373-01A

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Potential target of CAR-T therapy development for BOP1-CPSF1

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-CPSF1

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-CPSF1

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