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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:ELP4-CFTR

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ELP4-CFTR
FusionPDB ID: 26332
FusionGDB2.0 ID: 26332
HgeneTgene
Gene symbol

ELP4

CFTR

Gene ID

26610

1080

Gene nameelongator acetyltransferase complex subunit 4CF transmembrane conductance regulator
SynonymsAN|AN2|C11orf19|PAX6NEB|PAXNEB|dJ68P15A.1|hELP4ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1
Cytomap

11p13

7q31.2

Type of geneprotein-codingprotein-coding
Descriptionelongator complex protein 4PAX6 neighbor gene proteinelongation protein 4 homologcystic fibrosis transmembrane conductance regulatorcAMP-dependent chloride channelchannel conductance-controlling ATPasecystic fibrosis transmembrane conductance regulatingcystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-f
Modification date2020031320200329
UniProtAcc

Q96EB1

Main function of 5'-partner protein: FUNCTION: Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576, PubMed:16713582). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). {ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:16713582, ECO:0000303|PubMed:29332244}.

P13569

Main function of 5'-partner protein: FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810). {ECO:0000269|PubMed:10792060, ECO:0000269|PubMed:11524016, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12529365, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:14668433, ECO:0000269|PubMed:15010471, ECO:0000269|PubMed:16645176, ECO:0000269|PubMed:17036051, ECO:0000269|PubMed:1712898, ECO:0000269|PubMed:17182731, ECO:0000269|PubMed:19019741, ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:19621064, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:25330774, ECO:0000269|PubMed:26627831, ECO:0000269|PubMed:26823428, ECO:0000269|PubMed:26846474, ECO:0000269|PubMed:27714810, ECO:0000269|PubMed:27941075, ECO:0000269|PubMed:28087700, ECO:0000269|PubMed:8910473, ECO:0000269|PubMed:9804160, ECO:0000305|PubMed:19923167}.
Ensembl transtripts involved in fusion geneENST idsENST00000350638, ENST00000379163, 
ENST00000395934, 
ENST00000608965, 
ENST00000003084, ENST00000454343, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score15 X 12 X 7=126013 X 15 X 10=1950
# samples 1413
** MAII scorelog2(14/1260*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/1950*10)=-3.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ELP4 [Title/Abstract] AND CFTR [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ELP4 [Title/Abstract] AND CFTR [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ELP4(31616448)-CFTR(117170953), # samples:1
Anticipated loss of major functional domain due to fusion event.ELP4-CFTR 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.
ELP4-CFTR 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.
ELP4-CFTR 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.
ELP4-CFTR 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
HgeneELP4

GO:0006357

regulation of transcription by RNA polymerase II

11818576

TgeneCFTR

GO:0015701

bicarbonate transport

15010471|19019741

TgeneCFTR

GO:0034976

response to endoplasmic reticulum stress

21884936|28067262

TgeneCFTR

GO:1902476

chloride transmembrane transport

11524016|11707463|19019741

TgeneCFTR

GO:1902943

positive regulation of voltage-gated chloride channel activity

22006324

TgeneCFTR

GO:1904322

cellular response to forskolin

15010471|19621064



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/chr11:31616448/chr7:117170953)
- 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 ELP4 (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 CFTR (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)
ENST00000350638ELP4chr1131616448-ENST00000003084CFTRchr7117170953+62715483547171560
ENST00000350638ELP4chr1131616448-ENST00000454343CFTRchr7117170953+60925483545341499
ENST00000379163ELP4chr1131616448-ENST00000003084CFTRchr7117170953+62515281546971560
ENST00000379163ELP4chr1131616448-ENST00000454343CFTRchr7117170953+60725281545141499
ENST00000395934ELP4chr1131616448-ENST00000003084CFTRchr7117170953+6243520746891560
ENST00000395934ELP4chr1131616448-ENST00000454343CFTRchr7117170953+6064520745061499

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
ENST00000350638ENST00000003084ELP4chr1131616448-CFTRchr7117170953+0.000131520.9998685
ENST00000350638ENST00000454343ELP4chr1131616448-CFTRchr7117170953+0.0001402570.9998597
ENST00000379163ENST00000003084ELP4chr1131616448-CFTRchr7117170953+0.0001324880.99986744
ENST00000379163ENST00000454343ELP4chr1131616448-CFTRchr7117170953+0.0001418880.99985814
ENST00000395934ENST00000003084ELP4chr1131616448-CFTRchr7117170953+0.0001297050.9998703
ENST00000395934ENST00000454343ELP4chr1131616448-CFTRchr7117170953+0.0001386790.99986136

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 ELP4-CFTR

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ELP4chr1131616448CFTRchr7117170953520171KIAWRYQLLPKMEEVTKAVQPLLLGR
ELP4chr1131616448CFTRchr7117170953528171KIAWRYQLLPKMEEVTKAVQPLLLGR
ELP4chr1131616448CFTRchr7117170953548171KIAWRYQLLPKMEEVTKAVQPLLLGR

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Potential FusionNeoAntigen Information of ELP4-CFTR 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.
ELP4-CFTR_31616448_117170953.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)
ELP4-CFTRchr1131616448chr7117170953548HLA-B45:01EEVTKAVQP0.99610.8251221
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:22QLLPKMEEV0.99510.7551615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:13QLLPKMEEV0.99180.7468615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:24QLLPKMEEV0.99140.6849615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:30QLLPKMEEV0.99140.6849615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:67QLLPKMEEV0.99140.6849615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:11QLLPKMEEV0.99130.711615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:60QLLPKMEEV0.99130.7135615
ELP4-CFTRchr1131616448chr7117170953548HLA-B50:02EEVTKAVQP0.99110.58561221
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:27QLLPKMEEV0.99060.6429615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:21QLLPKMEEV0.98880.7825615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:16QLLPKMEEV0.98820.5901615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:38QLLPKMEEV0.98130.6279615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:29QLLPKMEEV0.98070.6877615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:04QLLPKMEEV0.97730.8934615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:13KMEEVTKAV0.97270.62831019
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:17QLLPKMEEV0.96050.8776615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:21KMEEVTKAV0.9510.55931019
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:35QLLPKMEEV0.93580.705615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:20QLLPKMEEV0.93420.6991615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:19QLLPKMEEV0.93350.6321615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:38KMEEVTKAV0.9310.57221019
ELP4-CFTRchr1131616448chr7117170953548HLA-B08:09QLLPKMEEV0.8830.9551615
ELP4-CFTRchr1131616448chr7117170953548HLA-B41:01EEVTKAVQP0.85880.93521221
ELP4-CFTRchr1131616448chr7117170953548HLA-B50:01EEVTKAVQP0.49860.82831221
ELP4-CFTRchr1131616448chr7117170953548HLA-B13:02QLLPKMEEV0.09150.9686615
ELP4-CFTRchr1131616448chr7117170953548HLA-B13:02KMEEVTKAV0.07920.82471019
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:22YQLLPKMEEV0.9540.7599515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:21YQLLPKMEEV0.92810.8289515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:60YQLLPKMEEV0.92560.7553515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:67YQLLPKMEEV0.9230.7433515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:30YQLLPKMEEV0.9230.7433515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:24YQLLPKMEEV0.9230.7433515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:11YQLLPKMEEV0.90440.77515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:04YQLLPKMEEV0.84640.9322515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:16YQLLPKMEEV0.80530.6629515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:13YQLLPKMEEV0.80040.8385515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:17YQLLPKMEEV0.79680.9101515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:27YQLLPKMEEV0.77230.7555515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:29YQLLPKMEEV0.75530.7453515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:38YQLLPKMEEV0.74290.754515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:20YQLLPKMEEV0.72850.7541515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:35YQLLPKMEEV0.72010.759515
ELP4-CFTRchr1131616448chr7117170953548HLA-B13:02YQLLPKMEEV0.67260.9553515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:19YQLLPKMEEV0.53740.711515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:30LLPKMEEVTKA0.76490.6541718
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:67LLPKMEEVTKA0.76490.6541718
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:24LLPKMEEVTKA0.76490.6541718
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:29LLPKMEEVTKA0.75190.6556718
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:27RYQLLPKMEEV0.69110.698415
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:11RYQLLPKMEEV0.61250.6316415
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:30RYQLLPKMEEV0.60930.6036415
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:24RYQLLPKMEEV0.60930.6036415
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:67RYQLLPKMEEV0.60930.6036415
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:60RYQLLPKMEEV0.6050.6373415
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:20RYQLLPKMEEV0.5610.615415
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:29RYQLLPKMEEV0.53510.6098415
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:02QLLPKMEEV0.99530.7137615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:05QLLPKMEEV0.99430.816615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:01QLLPKMEEV0.99140.6849615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:07QLLPKMEEV0.99140.7898615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:05YQLLPKMEEV0.95790.8353515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:02YQLLPKMEEV0.95590.7452515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:07YQLLPKMEEV0.92770.8247515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:01YQLLPKMEEV0.9230.7433515
ELP4-CFTRchr1131616448chr7117170953548HLA-B78:01LPKMEEVTKA0.63430.6762818
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:01LLPKMEEVTKA0.76490.6541718
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:01RYQLLPKMEEV0.60930.6036415
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:03QLLPKMEEV0.99650.7938615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:14QLLPKMEEV0.98910.7842615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:06QLLPKMEEV0.98880.7825615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:03KMEEVTKAV0.98740.56661019
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:06KMEEVTKAV0.9510.55931019
ELP4-CFTRchr1131616448chr7117170953548HLA-B50:04EEVTKAVQP0.49860.82831221
ELP4-CFTRchr1131616448chr7117170953548HLA-B50:05EEVTKAVQP0.49860.82831221
ELP4-CFTRchr1131616448chr7117170953548HLA-C07:04QLLPKMEEV0.0650.9617615
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:03YQLLPKMEEV0.93350.8316515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:14YQLLPKMEEV0.92970.8178515
ELP4-CFTRchr1131616448chr7117170953548HLA-A02:06YQLLPKMEEV0.92810.8289515
ELP4-CFTRchr1131616448chr7117170953548HLA-B78:02LPKMEEVTKA0.5090.7694818
ELP4-CFTRchr1131616448chr7117170953548HLA-B56:05LPKMEEVTKAV0.99450.5497819

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Potential FusionNeoAntigen Information of ELP4-CFTR 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.
ELP4-CFTR_31616448_117170953.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)
ELP4-CFTRchr1131616448chr7117170953548DRB1-0801AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0801IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0803AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0803IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0805AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0805IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0805KIAWRYQLLPKMEEV015
ELP4-CFTRchr1131616448chr7117170953548DRB1-0808AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0811AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0814AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0814IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0816AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0816IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0818AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0818IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0818KIAWRYQLLPKMEEV015
ELP4-CFTRchr1131616448chr7117170953548DRB1-0818WRYQLLPKMEEVTKA318
ELP4-CFTRchr1131616448chr7117170953548DRB1-0823AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0823IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0826AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0826IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0827AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0827IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0829AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0829IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0829KIAWRYQLLPKMEEV015
ELP4-CFTRchr1131616448chr7117170953548DRB1-0832AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0833AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0833IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0835AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0835IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0836AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0836IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0837AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0837IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0838AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0838IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0839AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0839IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-0840AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-0840IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1108AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1119AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1131AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1172AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1180AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1187AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1303AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1303IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-13100AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-13101AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-13101IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1310AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1310IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1312AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1312IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1312KIAWRYQLLPKMEEV015
ELP4-CFTRchr1131616448chr7117170953548DRB1-1313AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1313IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1321AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1321IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1321KIAWRYQLLPKMEEV015
ELP4-CFTRchr1131616448chr7117170953548DRB1-1330AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1330IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1330KIAWRYQLLPKMEEV015
ELP4-CFTRchr1131616448chr7117170953548DRB1-1330WRYQLLPKMEEVTKA318
ELP4-CFTRchr1131616448chr7117170953548DRB1-1346AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1349AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1349IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1355AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1355IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1356AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1360AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1366AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1366IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1382AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1388AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1388IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1390AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1390IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1395AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1395IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1413AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1413IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1422AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1422IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1425AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1425IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1453AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1453IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1463AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1469AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1469IAWRYQLLPKMEEVT116
ELP4-CFTRchr1131616448chr7117170953548DRB1-1485AWRYQLLPKMEEVTK217
ELP4-CFTRchr1131616448chr7117170953548DRB1-1485IAWRYQLLPKMEEVT116

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Fusion breakpoint peptide structures of ELP4-CFTR

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
7387QLLPKMEEVTKAVQELP4CFTRchr1131616448chr7117170953548

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ELP4-CFTR

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-B14:023BVN7387QLLPKMEEVTKAVQ-7.15543-7.26883
HLA-B14:023BVN7387QLLPKMEEVTKAVQ-4.77435-5.80965
HLA-B52:013W397387QLLPKMEEVTKAVQ-6.80875-6.92215
HLA-B52:013W397387QLLPKMEEVTKAVQ-4.20386-5.23916
HLA-A11:014UQ27387QLLPKMEEVTKAVQ-7.5194-8.5547
HLA-A11:014UQ27387QLLPKMEEVTKAVQ-6.9601-7.0735
HLA-A24:025HGA7387QLLPKMEEVTKAVQ-7.52403-7.63743
HLA-A24:025HGA7387QLLPKMEEVTKAVQ-5.82433-6.85963
HLA-B27:056PYJ7387QLLPKMEEVTKAVQ-3.28285-4.31815
HLA-B44:053DX87387QLLPKMEEVTKAVQ-5.91172-6.94702
HLA-B44:053DX87387QLLPKMEEVTKAVQ-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of ELP4-CFTR

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
ELP4-CFTRchr1131616448chr71171709531019KMEEVTKAVAAGATGGAGGAAGTCACCAAAGCAGTA
ELP4-CFTRchr1131616448chr71171709531221EEVTKAVQPGAGGAAGTCACCAAAGCAGTACAGCCT
ELP4-CFTRchr1131616448chr7117170953415RYQLLPKMEEVCGTTACCAGTTATTACCCAAGATGGAGGAAGTC
ELP4-CFTRchr1131616448chr7117170953515YQLLPKMEEVTACCAGTTATTACCCAAGATGGAGGAAGTC
ELP4-CFTRchr1131616448chr7117170953615QLLPKMEEVCAGTTATTACCCAAGATGGAGGAAGTC
ELP4-CFTRchr1131616448chr7117170953718LLPKMEEVTKATTATTACCCAAGATGGAGGAAGTCACCAAAGCA
ELP4-CFTRchr1131616448chr7117170953818LPKMEEVTKATTACCCAAGATGGAGGAAGTCACCAAAGCA
ELP4-CFTRchr1131616448chr7117170953819LPKMEEVTKAVTTACCCAAGATGGAGGAAGTCACCAAAGCAGTA

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
ELP4-CFTRchr1131616448chr7117170953015KIAWRYQLLPKMEEVAAAATAGCTTGGCGTTACCAGTTATTACCCAAGATGGAGGAAGTC
ELP4-CFTRchr1131616448chr7117170953116IAWRYQLLPKMEEVTATAGCTTGGCGTTACCAGTTATTACCCAAGATGGAGGAAGTCACC
ELP4-CFTRchr1131616448chr7117170953217AWRYQLLPKMEEVTKGCTTGGCGTTACCAGTTATTACCCAAGATGGAGGAAGTCACCAAA
ELP4-CFTRchr1131616448chr7117170953318WRYQLLPKMEEVTKATGGCGTTACCAGTTATTACCCAAGATGGAGGAAGTCACCAAAGCA

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Information of the samples that have these potential fusion neoantigens of ELP4-CFTR

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
BRCAELP4-CFTRchr1131616448ENST00000350638chr7117170953ENST00000003084TCGA-AC-A2QH-01A

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Potential target of CAR-T therapy development for ELP4-CFTR

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
TgeneCFTRchr11:31616448chr7:117170953ENST000000030842271014_103401481.0TransmembraneHelical%3B Name%3D10
TgeneCFTRchr11:31616448chr7:117170953ENST000000030842271096_111601481.0TransmembraneHelical%3B Name%3D11
TgeneCFTRchr11:31616448chr7:117170953ENST000000030842271131_115101481.0TransmembraneHelical%3B Name%3D12
TgeneCFTRchr11:31616448chr7:117170953ENST00000003084227123_14601481.0TransmembraneHelical%3B Name%3D2
TgeneCFTRchr11:31616448chr7:117170953ENST00000003084227196_21601481.0TransmembraneHelical%3B Name%3D3
TgeneCFTRchr11:31616448chr7:117170953ENST00000003084227223_24301481.0TransmembraneHelical%3B Name%3D4
TgeneCFTRchr11:31616448chr7:117170953ENST00000003084227299_31901481.0TransmembraneHelical%3B Name%3D5
TgeneCFTRchr11:31616448chr7:117170953ENST00000003084227340_35801481.0TransmembraneHelical%3B Name%3D6
TgeneCFTRchr11:31616448chr7:117170953ENST00000003084227859_87901481.0TransmembraneHelical%3B Name%3D7
TgeneCFTRchr11:31616448chr7:117170953ENST00000003084227919_93901481.0TransmembraneDiscontinuously helical%3B Name%3D8
TgeneCFTRchr11:31616448chr7:117170953ENST00000003084227991_101101481.0TransmembraneHelical%3B Name%3D9
TgeneCFTRchr11:31616448chr7:117170953ENST000004543432261014_103401420.0TransmembraneHelical%3B Name%3D10
TgeneCFTRchr11:31616448chr7:117170953ENST000004543432261096_111601420.0TransmembraneHelical%3B Name%3D11
TgeneCFTRchr11:31616448chr7:117170953ENST000004543432261131_115101420.0TransmembraneHelical%3B Name%3D12
TgeneCFTRchr11:31616448chr7:117170953ENST00000454343226123_14601420.0TransmembraneHelical%3B Name%3D2
TgeneCFTRchr11:31616448chr7:117170953ENST00000454343226196_21601420.0TransmembraneHelical%3B Name%3D3
TgeneCFTRchr11:31616448chr7:117170953ENST00000454343226223_24301420.0TransmembraneHelical%3B Name%3D4
TgeneCFTRchr11:31616448chr7:117170953ENST00000454343226299_31901420.0TransmembraneHelical%3B Name%3D5
TgeneCFTRchr11:31616448chr7:117170953ENST00000454343226340_35801420.0TransmembraneHelical%3B Name%3D6
TgeneCFTRchr11:31616448chr7:117170953ENST00000454343226859_87901420.0TransmembraneHelical%3B Name%3D7
TgeneCFTRchr11:31616448chr7:117170953ENST00000454343226919_93901420.0TransmembraneDiscontinuously helical%3B Name%3D8
TgeneCFTRchr11:31616448chr7:117170953ENST00000454343226991_101101420.0TransmembraneHelical%3B Name%3D9

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 ELP4-CFTR

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 ELP4-CFTR

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