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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:PRPF6-SDC4

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PRPF6-SDC4
FusionPDB ID: 69066
FusionGDB2.0 ID: 69066
HgeneTgene
Gene symbol

PRPF6

SDC4

Gene ID

24148

6385

Gene namepre-mRNA processing factor 6syndecan 4
SynonymsANT-1|ANT1|C20orf14|Prp6|RP60|SNRNP102|TOM|U5-102K|hPrp6SYND4
Cytomap

20q13.33

20q13.12

Type of geneprotein-codingprotein-coding
Descriptionpre-mRNA-processing factor 6PRP6 homologPRP6 pre-mRNA processing factor 6 homologU5 snRNP-associated 102 kDa proteinU5-102 kDa proteinandrogen receptor N-terminal domain transactivating protein-1p102 U5 small nuclear ribonucleoprotein particle-bindisyndecan-4amphiglycanryudocan amphiglycanryudocan core proteinsyndecan 4 (amphiglycan, ryudocan)syndecan proteoglycan 4
Modification date2020031320200313
UniProtAcc.

P31431

Main function of 5'-partner protein: FUNCTION: Cell surface proteoglycan that bears heparan sulfate. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP (PubMed:22660413). {ECO:0000269|PubMed:22660413}.
Ensembl transtripts involved in fusion geneENST idsENST00000535781, ENST00000537976, 
ENST00000372733, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 7 X 5=31510 X 10 X 4=400
# samples 811
** MAII scorelog2(8/315*10)=-1.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/400*10)=-1.86249647625006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: PRPF6 [Title/Abstract] AND SDC4 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PRPF6 [Title/Abstract] AND SDC4 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PRPF6(62626445)-SDC4(43964560), # samples:3
Anticipated loss of major functional domain due to fusion event.PRPF6-SDC4 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.
PRPF6-SDC4 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
HgenePRPF6

GO:0000398

mRNA splicing, via spliceosome

21549338|28781166

HgenePRPF6

GO:0045944

positive regulation of transcription by RNA polymerase II

16414017



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/chr20:62626445/chr20:43964560)
- 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 PRPF6 (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 SDC4 (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)
ENST00000535781PRPF6chr2062626445+ENST00000372733SDC4chr2043964560-3239726931262389

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
ENST00000535781ENST00000372733PRPF6chr2062626445+SDC4chr2043964560-0.0008670260.99913305

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 PRPF6-SDC4

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PRPF6chr2062626445SDC4chr2043964560726211TGENHTSVDPRQTIRETEVIDPQDLL

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Potential FusionNeoAntigen Information of PRPF6-SDC4 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.
PRPF6-SDC4_62626445_43964560.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)
PRPF6-SDC4chr2062626445chr2043964560726HLA-B52:01TSVDPRQTI0.990.9419514
PRPF6-SDC4chr2062626445chr2043964560726HLA-B15:16TSVDPRQTI0.98630.7368514
PRPF6-SDC4chr2062626445chr2043964560726HLA-B48:01RQTIRETEV0.97790.79391019
PRPF6-SDC4chr2062626445chr2043964560726HLA-B13:02RQTIRETEV0.76760.95871019
PRPF6-SDC4chr2062626445chr2043964560726HLA-B08:09DPRQTIRET0.6730.6271817
PRPF6-SDC4chr2062626445chr2043964560726HLA-B39:06NHTSVDPRQTI0.99930.7353314
PRPF6-SDC4chr2062626445chr2043964560726HLA-B39:01NHTSVDPRQTI0.99920.7912314
PRPF6-SDC4chr2062626445chr2043964560726HLA-B38:01NHTSVDPRQTI0.99910.8716314
PRPF6-SDC4chr2062626445chr2043964560726HLA-B38:02NHTSVDPRQTI0.99850.8671314
PRPF6-SDC4chr2062626445chr2043964560726HLA-C04:07SVDPRQTI10.8153614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C04:10SVDPRQTI10.8206614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:15SVDPRQTI10.9637614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C05:09SVDPRQTI10.9287614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C04:06SVDPRQTI0.99930.8183614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C04:14SVDPRQTI0.9990.7894614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:13SVDPRQTI0.99580.9375614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:04SVDPRQTI0.99580.9375614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:03SVDPRQTI0.98240.9669614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C15:06TSVDPRQTI0.99950.8773514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C03:07TSVDPRQTI0.99940.9714514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C03:19TSVDPRQTI0.99850.9448514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C03:08TSVDPRQTI0.99840.8143514
PRPF6-SDC4chr2062626445chr2043964560726HLA-B51:07TSVDPRQTI0.98970.7795514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:04TSVDPRQTI0.97870.9619514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:13TSVDPRQTI0.97870.9619514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C01:17TSVDPRQTI0.97630.9319514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C06:03TSVDPRQTI0.97360.9854514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C12:04TSVDPRQTI0.97330.9891514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C12:12TSVDPRQTI0.90060.8625514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C02:06TSVDPRQTI0.86380.9494514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:03TSVDPRQTI0.80770.9689514
PRPF6-SDC4chr2062626445chr2043964560726HLA-B39:05NHTSVDPRQTI0.99810.7624314
PRPF6-SDC4chr2062626445chr2043964560726HLA-C04:03SVDPRQTI10.8395614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C04:01SVDPRQTI10.8153614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C05:01SVDPRQTI10.9287614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C18:01SVDPRQTI10.8267614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:02SVDPRQTI10.9637614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C01:03SVDPRQTI0.99990.8837614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:01SVDPRQTI0.98240.9669614
PRPF6-SDC4chr2062626445chr2043964560726HLA-B07:13SVDPRQTI0.97660.7365614
PRPF6-SDC4chr2062626445chr2043964560726HLA-C15:02TSVDPRQTI0.99940.8057514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C15:05TSVDPRQTI0.99940.9082514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C03:05TSVDPRQTI0.99840.8553514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C03:17TSVDPRQTI0.99790.9345514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C03:04TSVDPRQTI0.9970.9673514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C03:03TSVDPRQTI0.9970.9673514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C16:04TSVDPRQTI0.97860.9445514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C03:06TSVDPRQTI0.96710.9665514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C16:02TSVDPRQTI0.96210.9891514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C12:03TSVDPRQTI0.89140.9578514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C17:01TSVDPRQTI0.84180.9207514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C12:02TSVDPRQTI0.82360.9395514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C16:01TSVDPRQTI0.81280.9563514
PRPF6-SDC4chr2062626445chr2043964560726HLA-C08:01TSVDPRQTI0.80770.9689514
PRPF6-SDC4chr2062626445chr2043964560726HLA-B07:13TSVDPRQTI0.26570.8303514
PRPF6-SDC4chr2062626445chr2043964560726HLA-B38:05NHTSVDPRQTI0.99910.8716314
PRPF6-SDC4chr2062626445chr2043964560726HLA-B15:09NHTSVDPRQTI0.98760.529314
PRPF6-SDC4chr2062626445chr2043964560726HLA-B39:11NHTSVDPRQTI0.94420.6386314

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Potential FusionNeoAntigen Information of PRPF6-SDC4 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 PRPF6-SDC4

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
9139SVDPRQTIRETEVIPRPF6SDC4chr2062626445chr2043964560726

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PRPF6-SDC4

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-B14:023BVN9139SVDPRQTIRETEVI-7.15543-7.26883
HLA-B14:023BVN9139SVDPRQTIRETEVI-4.77435-5.80965
HLA-B52:013W399139SVDPRQTIRETEVI-6.80875-6.92215
HLA-B52:013W399139SVDPRQTIRETEVI-4.20386-5.23916
HLA-A11:014UQ29139SVDPRQTIRETEVI-7.5194-8.5547
HLA-A11:014UQ29139SVDPRQTIRETEVI-6.9601-7.0735
HLA-A24:025HGA9139SVDPRQTIRETEVI-7.52403-7.63743
HLA-A24:025HGA9139SVDPRQTIRETEVI-5.82433-6.85963
HLA-B27:056PYJ9139SVDPRQTIRETEVI-3.28285-4.31815
HLA-B44:053DX89139SVDPRQTIRETEVI-5.91172-6.94702
HLA-B44:053DX89139SVDPRQTIRETEVI-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of PRPF6-SDC4

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
PRPF6-SDC4chr2062626445chr20439645601019RQTIRETEVCGACAAACTATCCGAGAGACTGAGGTC
PRPF6-SDC4chr2062626445chr2043964560314NHTSVDPRQTIAACCATACCTCAGTGGATCCCCGACAAACTATC
PRPF6-SDC4chr2062626445chr2043964560514TSVDPRQTIACCTCAGTGGATCCCCGACAAACTATC
PRPF6-SDC4chr2062626445chr2043964560614SVDPRQTITCAGTGGATCCCCGACAAACTATC
PRPF6-SDC4chr2062626445chr2043964560817DPRQTIRETGATCCCCGACAAACTATCCGAGAGACT

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 PRPF6-SDC4

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
BRCAPRPF6-SDC4chr2062626445ENST00000535781chr2043964560ENST00000372733TCGA-C8-A8HP-01A

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Potential target of CAR-T therapy development for PRPF6-SDC4

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
TgeneSDC4chr20:62626445chr20:43964560ENST0000037273305146_1700199.0TransmembraneHelical

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 PRPF6-SDC4

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 PRPF6-SDC4

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
TgeneSDC4C0007131Non-Small Cell Lung Carcinoma1CTD_human