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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:RPS6KB1-SNF8

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RPS6KB1-SNF8
FusionPDB ID: 78041
FusionGDB2.0 ID: 78041
HgeneTgene
Gene symbol

RPS6KB1

SNF8

Gene ID

6198

11267

Gene nameribosomal protein S6 kinase B1SNF8 subunit of ESCRT-II
SynonymsPS6K|S6K|S6K-beta-1|S6K1|STK14A|p70 S6KA|p70(S6K)-alpha|p70-S6K|p70-alphaDot3|EAP30|VPS22
Cytomap

17q23.1

17q21.32

Type of geneprotein-codingprotein-coding
Descriptionribosomal protein S6 kinase beta-1p70 S6 kinase, alpharibosomal protein S6 kinase Iribosomal protein S6 kinase, 70kDa, polypeptide 1serine/threonine kinase 14 alphaserine/threonine-protein kinase 14Avacuolar-sorting protein SNF8EAP30 subunit of ELL complexELL-associated protein of 30 kDaESCRT-II complex subunit VPS22SNF8, ESCRT-II complex subunit, homolog
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000225577, ENST00000406116, 
ENST00000443572, ENST00000393021, 
ENST00000587061, 
ENST00000514089, 
ENST00000290330, ENST00000502492, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 17 X 14=33326 X 5 X 5=150
# samples 4710
** MAII scorelog2(47/3332*10)=-2.82565573880055
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/150*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: RPS6KB1 [Title/Abstract] AND SNF8 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: RPS6KB1 [Title/Abstract] AND SNF8 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RPS6KB1(57970687)-SNF8(47021338), # samples:1
Anticipated loss of major functional domain due to fusion event.RPS6KB1-SNF8 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.
RPS6KB1-SNF8 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.
RPS6KB1-SNF8 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.
RPS6KB1-SNF8 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
HgeneRPS6KB1

GO:0031667

response to nutrient levels

29750193

HgeneRPS6KB1

GO:0031929

TOR signaling

12150926

HgeneRPS6KB1

GO:0071363

cellular response to growth factor stimulus

17936702

TgeneSNF8

GO:0006357

regulation of transcription by RNA polymerase II

10419521



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/chr17:57970687/chr17:47021338)
- 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 RPS6KB1 (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 SNF8 (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)
ENST00000443572RPS6KB1chr1757970687+ENST00000502492SNF8chr1747021338-207819655918287
ENST00000443572RPS6KB1chr1757970687+ENST00000290330SNF8chr1747021338-101719655915286
ENST00000406116RPS6KB1chr1757970687+ENST00000502492SNF8chr1747021338-206318140903287
ENST00000406116RPS6KB1chr1757970687+ENST00000290330SNF8chr1747021338-100218140900286
ENST00000225577RPS6KB1chr1757970687+ENST00000502492SNF8chr1747021338-204416221884287
ENST00000225577RPS6KB1chr1757970687+ENST00000290330SNF8chr1747021338-98316221881286

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
ENST00000443572ENST00000502492RPS6KB1chr1757970687+SNF8chr1747021338-0.001019190.9989808
ENST00000443572ENST00000290330RPS6KB1chr1757970687+SNF8chr1747021338-0.0020223660.9979777
ENST00000406116ENST00000502492RPS6KB1chr1757970687+SNF8chr1747021338-0.000992260.99900776
ENST00000406116ENST00000290330RPS6KB1chr1757970687+SNF8chr1747021338-0.0020205970.99797946
ENST00000225577ENST00000502492RPS6KB1chr1757970687+SNF8chr1747021338-0.0011267150.9988733
ENST00000225577ENST00000290330RPS6KB1chr1757970687+SNF8chr1747021338-0.0021566070.9978434

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 RPS6KB1-SNF8

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
RPS6KB1chr1757970687SNF8chr174702133816247PEDAGSEDELEEGAKYKERGTVLAED
RPS6KB1chr1757970687SNF8chr174702133818147PEDAGSEDELEEGAKYKERGTVLAED
RPS6KB1chr1757970687SNF8chr174702133819647PEDAGSEDELEEGAKYKERGTVLAED

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Potential FusionNeoAntigen Information of RPS6KB1-SNF8 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.
RPS6KB1-SNF8_57970687_47021338.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)
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:01DELEEGAKY0.99930.9187716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:03DELEEGAKY0.9980.9273716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B45:01SEDELEEGA0.87530.8543514
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B50:02SEDELEEGA0.76430.7004514
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B41:01SEDELEEGA0.24160.7783514
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:03EDELEEGAKY0.96030.9342616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:01DELEEGAKYK0.88280.9169717
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:01EDELEEGAKY0.6790.9195616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:03SEDELEEGAKY0.99990.9384516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:01SEDELEEGAKY0.99590.8616516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:04DELEEGAKY0.99960.9295716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:07DELEEGAKY0.99950.8831716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:05DELEEGAKY0.99930.9187716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:08DELEEGAKY0.99910.8481716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:06DELEEGAKY0.9990.921716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:13DELEEGAKY0.9980.9273716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:26DELEEGAKY0.9980.9273716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:07DELEEGAKY0.9980.9273716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:03DELEEGAKY0.99770.9129716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:11DELEEGAKY0.87260.8538716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B35:20DELEEGAKY0.66560.9076716
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:13EDELEEGAKY0.96030.9342616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:07EDELEEGAKY0.96030.9342616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:26EDELEEGAKY0.96030.9342616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:05DELEEGAKYK0.88280.9169717
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:04EDELEEGAKY0.80830.9306616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:05EDELEEGAKY0.6790.9195616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:08EDELEEGAKY0.67570.7997616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:06EDELEEGAKY0.64560.9224616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:03EDELEEGAKY0.62590.9148616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:11EDELEEGAKY0.58590.8338616
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:07SEDELEEGAKY0.99990.9384516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:26SEDELEEGAKY0.99990.9384516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B44:13SEDELEEGAKY0.99990.9384516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B15:53SEDELEEGAKY0.99910.8222516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:04SEDELEEGAKY0.99710.8683516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:08SEDELEEGAKY0.9970.7866516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:11SEDELEEGAKY0.99690.9162516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:05SEDELEEGAKY0.99590.8616516
RPS6KB1-SNF8chr1757970687chr1747021338162HLA-B18:06SEDELEEGAKY0.99440.8879516

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Potential FusionNeoAntigen Information of RPS6KB1-SNF8 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.
RPS6KB1-SNF8_57970687_47021338.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)
RPS6KB1-SNF8chr1757970687chr1747021338162DRB1-0802EGAKYKERGTVLAED1126
RPS6KB1-SNF8chr1757970687chr1747021338162DRB1-0809EGAKYKERGTVLAED1126
RPS6KB1-SNF8chr1757970687chr1747021338162DRB1-0821EGAKYKERGTVLAED1126
RPS6KB1-SNF8chr1757970687chr1747021338162DRB1-1130EGAKYKERGTVLAED1126
RPS6KB1-SNF8chr1757970687chr1747021338162DRB1-1367EGAKYKERGTVLAED1126

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Fusion breakpoint peptide structures of RPS6KB1-SNF8

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
1579EDELEEGAKYKERGRPS6KB1SNF8chr1757970687chr1747021338162

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of RPS6KB1-SNF8

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-B14:023BVN1579EDELEEGAKYKERG-7.15543-7.26883
HLA-B14:023BVN1579EDELEEGAKYKERG-4.77435-5.80965
HLA-B52:013W391579EDELEEGAKYKERG-6.80875-6.92215
HLA-B52:013W391579EDELEEGAKYKERG-4.20386-5.23916
HLA-A11:014UQ21579EDELEEGAKYKERG-7.5194-8.5547
HLA-A11:014UQ21579EDELEEGAKYKERG-6.9601-7.0735
HLA-A24:025HGA1579EDELEEGAKYKERG-7.52403-7.63743
HLA-A24:025HGA1579EDELEEGAKYKERG-5.82433-6.85963
HLA-B27:056PYJ1579EDELEEGAKYKERG-3.28285-4.31815
HLA-B44:053DX81579EDELEEGAKYKERG-5.91172-6.94702
HLA-B44:053DX81579EDELEEGAKYKERG-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of RPS6KB1-SNF8

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
RPS6KB1-SNF8chr1757970687chr1747021338514SEDELEEGATCTGAGGATGAGCTGGAGGAGGGGGCC
RPS6KB1-SNF8chr1757970687chr1747021338516SEDELEEGAKYTCTGAGGATGAGCTGGAGGAGGGGGCCAAGTAT
RPS6KB1-SNF8chr1757970687chr1747021338616EDELEEGAKYGAGGATGAGCTGGAGGAGGGGGCCAAGTAT
RPS6KB1-SNF8chr1757970687chr1747021338716DELEEGAKYGATGAGCTGGAGGAGGGGGCCAAGTAT
RPS6KB1-SNF8chr1757970687chr1747021338717DELEEGAKYKGATGAGCTGGAGGAGGGGGCCAAGTATAAG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
RPS6KB1-SNF8chr1757970687chr17470213381126EGAKYKERGTVLAEDGAGGGGGCCAAGTATAAGGAGCGAGGGACGGTCTTGGCTGAGGAC

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Information of the samples that have these potential fusion neoantigens of RPS6KB1-SNF8

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/ARPS6KB1-SNF8chr1757970687ENST00000225577chr1747021338ENST00000290330XX000001

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Potential target of CAR-T therapy development for RPS6KB1-SNF8

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 RPS6KB1-SNF8

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 RPS6KB1-SNF8

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