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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:PKD1-RNF126

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PKD1-RNF126
FusionPDB ID: 65681
FusionGDB2.0 ID: 65681
HgeneTgene
Gene symbol

PKD1

RNF126

Gene ID

5310

55658

Gene namepolycystin 1, transient receptor potential channel interactingring finger protein 126
SynonymsPBP|PC1|Pc-1|TRPP1-
Cytomap

16p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionpolycystin-1autosomal dominant polycystic kidney disease 1 proteinpolycystic kidney disease 1 (autosomal dominant)polycystic kidney disease-associated proteintransient receptor potential cation channel, subfamily P, member 1E3 ubiquitin-protein ligase RNF126
Modification date2020031520200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000262304, ENST00000423118, 
ENST00000561991, 
ENST00000292363, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 13 X 9=16388 X 3 X 6=144
# samples 149
** MAII scorelog2(14/1638*10)=-3.54843662469604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/144*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: PKD1 [Title/Abstract] AND RNF126 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PKD1 [Title/Abstract] AND RNF126 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PKD1(2147148)-RNF126(650296), # samples:1
Anticipated loss of major functional domain due to fusion event.PKD1-RNF126 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.
PKD1-RNF126 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.
PKD1-RNF126 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.
PKD1-RNF126 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
HgenePKD1

GO:0045737

positive regulation of cyclin-dependent protein serine/threonine kinase activity

16311606

HgenePKD1

GO:0045944

positive regulation of transcription by RNA polymerase II

16311606

HgenePKD1

GO:0048754

branching morphogenesis of an epithelial tube

12482949

HgenePKD1

GO:0051290

protein heterotetramerization

30093605

HgenePKD1

GO:0061136

regulation of proteasomal protein catabolic process

23001567

HgenePKD1

GO:0198738

cell-cell signaling by wnt

27214281

HgenePKD1

GO:2000045

regulation of G1/S transition of mitotic cell cycle

16311606

TgeneRNF126

GO:0006511

ubiquitin-dependent protein catabolic process

24981174

TgeneRNF126

GO:0006513

protein monoubiquitination

23277564

TgeneRNF126

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

24981174



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/chr16:2147148/chr19:650296)
- 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 PKD1 (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 RNF126 (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)
ENST00000423118PKD1chr162147148-ENST00000292363RNF126chr19650296-1180010705209111973662
ENST00000262304PKD1chr162147148-ENST00000292363RNF126chr19650296-1180310708209112003663

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
ENST00000423118ENST00000292363PKD1chr162147148-RNF126chr19650296-0.0017947810.9982052
ENST00000262304ENST00000292363PKD1chr162147148-RNF126chr19650296-0.002436550.9975635

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 PKD1-RNF126

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PKD1chr162147148RNF126chr19650296107053495PAPTQDTHMETDLLSSLIIQQLVNGI
PKD1chr162147148RNF126chr19650296107083496PAPTQDTHMETDLLSSLIIQQLVNGI

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Potential FusionNeoAntigen Information of PKD1-RNF126 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.
PKD1-RNF126_2147148_650296.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)
PKD1-RNF126chr162147148chr1965029610708HLA-B39:24THMETDLL0.99970.5487614
PKD1-RNF126chr162147148chr1965029610708HLA-B39:01THMETDLL0.99960.937614
PKD1-RNF126chr162147148chr1965029610708HLA-B38:01THMETDLL0.99930.9747614
PKD1-RNF126chr162147148chr1965029610708HLA-B38:02THMETDLL0.99930.979614
PKD1-RNF126chr162147148chr1965029610708HLA-B15:10THMETDLL0.99860.5885614
PKD1-RNF126chr162147148chr1965029610708HLA-B15:37THMETDLL0.99110.5193614
PKD1-RNF126chr162147148chr1965029610708HLA-B13:01METDLLSSL0.99790.6892817
PKD1-RNF126chr162147148chr1965029610708HLA-B44:03METDLLSSL0.98950.9245817
PKD1-RNF126chr162147148chr1965029610708HLA-B18:01METDLLSSL0.97240.6939817
PKD1-RNF126chr162147148chr1965029610708HLA-B45:01METDLLSSL0.97150.8282817
PKD1-RNF126chr162147148chr1965029610708HLA-B39:01METDLLSSL0.89930.7832817
PKD1-RNF126chr162147148chr1965029610708HLA-B39:13METDLLSSL0.89520.7747817
PKD1-RNF126chr162147148chr1965029610708HLA-B38:02METDLLSSL0.89460.8715817
PKD1-RNF126chr162147148chr1965029610708HLA-B38:01METDLLSSL0.89320.846817
PKD1-RNF126chr162147148chr1965029610708HLA-B50:01METDLLSSL0.65930.5294817
PKD1-RNF126chr162147148chr1965029610708HLA-B41:01METDLLSSL0.61150.9652817
PKD1-RNF126chr162147148chr1965029610708HLA-A02:22LLSSLIIQQL0.99560.53821222
PKD1-RNF126chr162147148chr1965029610708HLA-A02:04LLSSLIIQQL0.97850.5881222
PKD1-RNF126chr162147148chr1965029610708HLA-B39:13HMETDLLSSL0.75660.7822717
PKD1-RNF126chr162147148chr1965029610708HLA-B38:02THMETDLLSSL0.99990.8587617
PKD1-RNF126chr162147148chr1965029610708HLA-B39:01THMETDLLSSL0.99990.796617
PKD1-RNF126chr162147148chr1965029610708HLA-B38:01THMETDLLSSL0.99980.8554617
PKD1-RNF126chr162147148chr1965029610708HLA-B39:06THMETDLLSSL0.99970.6435617
PKD1-RNF126chr162147148chr1965029610708HLA-B15:18THMETDLLSSL0.99590.55617
PKD1-RNF126chr162147148chr1965029610708HLA-C08:15ETDLLSSL0.99990.9333917
PKD1-RNF126chr162147148chr1965029610708HLA-B39:09THMETDLL0.99960.7592614
PKD1-RNF126chr162147148chr1965029610708HLA-B39:12THMETDLL0.99950.9414614
PKD1-RNF126chr162147148chr1965029610708HLA-B39:05THMETDLL0.99920.9231614
PKD1-RNF126chr162147148chr1965029610708HLA-B39:09METDLLSSL0.92320.5072817
PKD1-RNF126chr162147148chr1965029610708HLA-B39:05METDLLSSL0.91120.7611817
PKD1-RNF126chr162147148chr1965029610708HLA-B39:08METDLLSSL0.90030.7728817
PKD1-RNF126chr162147148chr1965029610708HLA-B39:12METDLLSSL0.8710.7947817
PKD1-RNF126chr162147148chr1965029610708HLA-B39:09THMETDLLSSL0.99990.5994617
PKD1-RNF126chr162147148chr1965029610708HLA-B39:05THMETDLLSSL0.99990.7704617
PKD1-RNF126chr162147148chr1965029610708HLA-B39:12THMETDLLSSL0.99990.8015617
PKD1-RNF126chr162147148chr1965029610708HLA-B14:03THMETDLLSSL0.99210.7671617
PKD1-RNF126chr162147148chr1965029610708HLA-C08:02ETDLLSSL0.99990.9333917
PKD1-RNF126chr162147148chr1965029610708HLA-B39:31THMETDLL0.99960.9369614
PKD1-RNF126chr162147148chr1965029610708HLA-B38:05THMETDLL0.99930.9747614
PKD1-RNF126chr162147148chr1965029610708HLA-B15:09THMETDLL0.99840.709614
PKD1-RNF126chr162147148chr1965029610708HLA-B39:11THMETDLL0.89170.9145614
PKD1-RNF126chr162147148chr1965029610708HLA-B40:04METDLLSSL0.99970.5098817
PKD1-RNF126chr162147148chr1965029610708HLA-B44:07METDLLSSL0.98950.9245817
PKD1-RNF126chr162147148chr1965029610708HLA-B44:26METDLLSSL0.98950.9245817
PKD1-RNF126chr162147148chr1965029610708HLA-B44:13METDLLSSL0.98950.9245817
PKD1-RNF126chr162147148chr1965029610708HLA-B18:04METDLLSSL0.9780.7102817
PKD1-RNF126chr162147148chr1965029610708HLA-B18:07METDLLSSL0.97580.6543817
PKD1-RNF126chr162147148chr1965029610708HLA-B18:05METDLLSSL0.97240.6939817
PKD1-RNF126chr162147148chr1965029610708HLA-B18:08METDLLSSL0.97160.6029817
PKD1-RNF126chr162147148chr1965029610708HLA-B18:06METDLLSSL0.96820.7031817
PKD1-RNF126chr162147148chr1965029610708HLA-B18:03METDLLSSL0.96710.6853817
PKD1-RNF126chr162147148chr1965029610708HLA-B18:11METDLLSSL0.92060.7004817
PKD1-RNF126chr162147148chr1965029610708HLA-B39:31METDLLSSL0.90640.7911817
PKD1-RNF126chr162147148chr1965029610708HLA-B39:02METDLLSSL0.90440.778817
PKD1-RNF126chr162147148chr1965029610708HLA-B38:05METDLLSSL0.89320.846817
PKD1-RNF126chr162147148chr1965029610708HLA-B39:11METDLLSSL0.89090.7944817
PKD1-RNF126chr162147148chr1965029610708HLA-B41:03METDLLSSL0.74070.7129817
PKD1-RNF126chr162147148chr1965029610708HLA-B48:02METDLLSSL0.70250.7993817
PKD1-RNF126chr162147148chr1965029610708HLA-B15:09METDLLSSL0.6750.5245817
PKD1-RNF126chr162147148chr1965029610708HLA-B50:04METDLLSSL0.65930.5294817
PKD1-RNF126chr162147148chr1965029610708HLA-B50:05METDLLSSL0.65930.5294817
PKD1-RNF126chr162147148chr1965029610708HLA-B35:20METDLLSSL0.52760.8452817
PKD1-RNF126chr162147148chr1965029610708HLA-B15:53METDLLSSL0.30220.6956817
PKD1-RNF126chr162147148chr1965029610708HLA-B41:03HMETDLLSSL0.54280.7215717
PKD1-RNF126chr162147148chr1965029610708HLA-B39:31THMETDLLSSL10.7966617
PKD1-RNF126chr162147148chr1965029610708HLA-B38:05THMETDLLSSL0.99980.8554617
PKD1-RNF126chr162147148chr1965029610708HLA-B15:09THMETDLLSSL0.99960.5656617
PKD1-RNF126chr162147148chr1965029610708HLA-B39:11THMETDLLSSL0.99830.8564617

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Potential FusionNeoAntigen Information of PKD1-RNF126 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 PKD1-RNF126

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
9388THMETDLLSSLIIQPKD1RNF126chr162147148chr1965029610708

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PKD1-RNF126

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-B14:023BVN9388THMETDLLSSLIIQ-7.15543-7.26883
HLA-B14:023BVN9388THMETDLLSSLIIQ-4.77435-5.80965
HLA-B52:013W399388THMETDLLSSLIIQ-6.80875-6.92215
HLA-B52:013W399388THMETDLLSSLIIQ-4.20386-5.23916
HLA-A11:014UQ29388THMETDLLSSLIIQ-7.5194-8.5547
HLA-A11:014UQ29388THMETDLLSSLIIQ-6.9601-7.0735
HLA-A24:025HGA9388THMETDLLSSLIIQ-7.52403-7.63743
HLA-A24:025HGA9388THMETDLLSSLIIQ-5.82433-6.85963
HLA-B27:056PYJ9388THMETDLLSSLIIQ-3.28285-4.31815
HLA-B44:053DX89388THMETDLLSSLIIQ-5.91172-6.94702
HLA-B44:053DX89388THMETDLLSSLIIQ-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of PKD1-RNF126

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
PKD1-RNF126chr162147148chr196502961222LLSSLIIQQLCCTGATCATCCAGCAGCTCGTCAACGGCAT
PKD1-RNF126chr162147148chr19650296614THMETDLLAACGGACCTGCTCAGCAGCCTGAT
PKD1-RNF126chr162147148chr19650296617THMETDLLSSLAACGGACCTGCTCAGCAGCCTGATCATCCAGCA
PKD1-RNF126chr162147148chr19650296717HMETDLLSSLGGACCTGCTCAGCAGCCTGATCATCCAGCA
PKD1-RNF126chr162147148chr19650296817METDLLSSLCCTGCTCAGCAGCCTGATCATCCAGCA
PKD1-RNF126chr162147148chr19650296917ETDLLSSLGCTCAGCAGCCTGATCATCCAGCA

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 PKD1-RNF126

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
ESCAPKD1-RNF126chr162147148ENST00000262304chr19650296ENST00000292363TCGA-L5-A8NG

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Potential target of CAR-T therapy development for PKD1-RNF126

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
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463075_309534994304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463278_329834994304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000262304-34463324_334434994304.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463075_309534984303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463278_329834984303.0TransmembraneHelical
HgenePKD1chr16:2147148chr19:650296ENST00000423118-34463324_334434984303.0TransmembraneHelical

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 PKD1-RNF126

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 PKD1-RNF126

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