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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:CPD-NF1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CPD-NF1
FusionPDB ID: 18933
FusionGDB2.0 ID: 18933
HgeneTgene
Gene symbol

CPD

NF1

Gene ID

9455

4763

Gene namehomer scaffold protein 2neurofibromin 1
SynonymsACPD|CPD|DFNA68|HOMER-2|VESL-2NFNS|VRNF|WSS
Cytomap

15q25.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionhomer protein homolog 2cupidinhomer homolog 2homer homolog 3homer scaffolding protein 2homer, neuronal immediate early gene, 2neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1
Modification date2020031320200322
UniProtAcc

O75976

Main function of 5'-partner protein:

P21359

Main function of 5'-partner protein: FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}.
Ensembl transtripts involved in fusion geneENST idsENST00000225719, ENST00000543464, 
ENST00000584051, 
ENST00000417592, 
ENST00000431387, ENST00000444181, 
ENST00000581113, ENST00000356175, 
ENST00000358273, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score26 X 16 X 10=416028 X 30 X 15=12600
# samples 2633
** MAII scorelog2(26/4160*10)=-4
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(33/12600*10)=-5.25481389902883
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: CPD [Title/Abstract] AND NF1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: CPD [Title/Abstract] AND NF1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CPD(28766095)-NF1(29676138), # samples:1
Anticipated loss of major functional domain due to fusion event.CPD-NF1 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.
CPD-NF1 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.
CPD-NF1 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.
CPD-NF1 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
TgeneNF1

GO:0043547

positive regulation of GTPase activity

2121371



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/chr17:28766095/chr17:29676138)
- 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 CPD (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 NF1 (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)
ENST00000225719CPDchr1728766095+ENST00000356175NF1chr1729676138+715923067636361186
ENST00000225719CPDchr1728766095+ENST00000358273NF1chr1729676138+715923067636361186
ENST00000543464CPDchr1728766095+ENST00000356175NF1chr1729676138+674418914023221939
ENST00000543464CPDchr1728766095+ENST00000358273NF1chr1729676138+674418914023221939

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
ENST00000225719ENST00000356175CPDchr1728766095+NF1chr1729676138+0.000123450.9998765
ENST00000225719ENST00000358273CPDchr1728766095+NF1chr1729676138+0.000123450.9998765
ENST00000543464ENST00000356175CPDchr1728766095+NF1chr1729676138+8.63E-050.9999137
ENST00000543464ENST00000358273CPDchr1728766095+NF1chr1729676138+8.63E-050.9999137

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 CPD-NF1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
CPDchr1728766095NF1chr17296761381891132ENNRESLITLIEKVHIGVKGFVKDSI
CPDchr1728766095NF1chr17296761382306116GSLIPEGDAGPDAAGPDAAGPLLPGR

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Potential FusionNeoAntigen Information of CPD-NF1 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.
CPD-NF1_28766095_29676138.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)
CPD-NF1chr1728766095chr17296761381891HLA-B08:09TLIEKVHI0.99520.5885816
CPD-NF1chr1728766095chr17296761381891HLA-A02:22SLITLIEKV0.99810.6289514
CPD-NF1chr1728766095chr17296761381891HLA-A02:27SLITLIEKV0.99740.5859514
CPD-NF1chr1728766095chr17296761381891HLA-A02:67SLITLIEKV0.99720.6399514
CPD-NF1chr1728766095chr17296761381891HLA-A02:11SLITLIEKV0.99720.6641514
CPD-NF1chr1728766095chr17296761381891HLA-A02:30SLITLIEKV0.99720.6399514
CPD-NF1chr1728766095chr17296761381891HLA-A02:60SLITLIEKV0.99720.6539514
CPD-NF1chr1728766095chr17296761381891HLA-A02:13SLITLIEKV0.99720.6797514
CPD-NF1chr1728766095chr17296761381891HLA-A02:24SLITLIEKV0.99720.6399514
CPD-NF1chr1728766095chr17296761381891HLA-A02:21SLITLIEKV0.99640.7646514
CPD-NF1chr1728766095chr17296761381891HLA-A02:38SLITLIEKV0.99510.6486514
CPD-NF1chr1728766095chr17296761381891HLA-A02:04SLITLIEKV0.9930.6591514
CPD-NF1chr1728766095chr17296761381891HLA-A02:29SLITLIEKV0.99140.6408514
CPD-NF1chr1728766095chr17296761381891HLA-A02:35SLITLIEKV0.98940.6608514
CPD-NF1chr1728766095chr17296761381891HLA-A02:20SLITLIEKV0.98460.6469514
CPD-NF1chr1728766095chr17296761381891HLA-A32:13KVHIGVKGF0.73270.72281221
CPD-NF1chr1728766095chr17296761381891HLA-B13:01SLITLIEKV0.09870.9221514
CPD-NF1chr1728766095chr17296761381891HLA-A02:07SLITLIEKV0.99740.671514
CPD-NF1chr1728766095chr17296761381891HLA-A02:01SLITLIEKV0.99720.6399514
CPD-NF1chr1728766095chr17296761382306HLA-C05:09AAGPDAAGPLL10.96391223
CPD-NF1chr1728766095chr17296761382306HLA-C08:15AAGPDAAGPLL0.99990.99171223
CPD-NF1chr1728766095chr17296761382306HLA-B07:12AAGPDAAGPLL0.98890.78981223
CPD-NF1chr1728766095chr17296761381891HLA-A02:03SLITLIEKV0.99840.7789514
CPD-NF1chr1728766095chr17296761381891HLA-A02:14SLITLIEKV0.99650.6828514
CPD-NF1chr1728766095chr17296761381891HLA-A02:06SLITLIEKV0.99640.7646514
CPD-NF1chr1728766095chr17296761381891HLA-B15:24KVHIGVKGF0.98320.6751221
CPD-NF1chr1728766095chr17296761381891HLA-B58:06KVHIGVKGF0.98110.51441221
CPD-NF1chr1728766095chr17296761381891HLA-B15:35KVHIGVKGF0.97010.61091221
CPD-NF1chr1728766095chr17296761381891HLA-A32:01KVHIGVKGF0.96970.71021221
CPD-NF1chr1728766095chr17296761381891HLA-A69:01SLITLIEKV0.94540.8464514
CPD-NF1chr1728766095chr17296761382306HLA-C01:02AAGPDAAGPL0.99380.97471222
CPD-NF1chr1728766095chr17296761381891HLA-A68:02ESLITLIEKV0.99180.7119414
CPD-NF1chr1728766095chr17296761381891HLA-A25:01EKVHIGVKGF0.45910.69981121
CPD-NF1chr1728766095chr17296761382306HLA-C05:01AAGPDAAGPLL10.96391223
CPD-NF1chr1728766095chr17296761382306HLA-C08:02AAGPDAAGPLL0.99990.99171223

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Potential FusionNeoAntigen Information of CPD-NF1 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.
CPD-NF1_28766095_29676138.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)
CPD-NF1chr1728766095chr17296761381891DRB1-1113ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1113RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1113NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1117ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1117RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1117NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1134ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1152ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1152RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1152NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1189ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1192ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1203ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1204ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1208ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1209ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1219ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-13100ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1344ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1346ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1354ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1377ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1377RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1377NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1401ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1401RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1401NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1401SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1404ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1404RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1404NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1404SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1405ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1405RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1405NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1406ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1407ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1407RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1408ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1408RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1408NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1411ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1411RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1411NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1414ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1416ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1417ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1418ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1418RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1418NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1420ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1421ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1423ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1423RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1423NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1426ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1426RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1426NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1426SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1428ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1428RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1428NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1428SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1429ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1431ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1431RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1431NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1431SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1432ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1432RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1432NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1432SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1433ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1434ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1434RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1434NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1435ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1435RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1435NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1435SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1436ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1438ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1438RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1438NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1439ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1439RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1439NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1442ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1443ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1443RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1443NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1444ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1445ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1445RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1445NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1449ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1450ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1450RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1450NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1452ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1454ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1454RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1454NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1454SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1455ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1455RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1455NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1455SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1456ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1456RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1456NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1458ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1458RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1458NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1458SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1459ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1459RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1459NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1460ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1460RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1460NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1460SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1461ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1461RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1461NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1461SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1462ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1462NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1462RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1464ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1464RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1464NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1465ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1465RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1465NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1468ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1468RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1470ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1470RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1470NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1471ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1471RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1471NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1471SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1472ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1472RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1472NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1473ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1474ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1475ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1475RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1475NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1480ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1481ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1481RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1481NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1482ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1482RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1482NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1483ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1486ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1486RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1486NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1486SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1487ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1487RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1487NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1487SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1488ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1488RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1488NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1488SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1490ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1490RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1490NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1490SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1491ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1491RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1491NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1493ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1495ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1495RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1496ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1496RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1496NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1497ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1497RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1497NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1497SLITLIEKVHIGVKG520
CPD-NF1chr1728766095chr17296761381891DRB1-1499ESLITLIEKVHIGVK419
CPD-NF1chr1728766095chr17296761381891DRB1-1499RESLITLIEKVHIGV318
CPD-NF1chr1728766095chr17296761381891DRB1-1499NRESLITLIEKVHIG217
CPD-NF1chr1728766095chr17296761381891DRB1-1499SLITLIEKVHIGVKG520

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Fusion breakpoint peptide structures of CPD-NF1

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
2700GDAGPDAAGPDAAGCPDNF1chr1728766095chr17296761382306
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
5131LITLIEKVHIGVKGCPDNF1chr1728766095chr17296761381891

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CPD-NF1

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-B14:023BVN2700GDAGPDAAGPDAAG-7.9962-8.1096
HLA-B14:023BVN2700GDAGPDAAGPDAAG-5.70842-6.74372
HLA-B52:013W392700GDAGPDAAGPDAAG-6.83737-6.95077
HLA-B52:013W392700GDAGPDAAGPDAAG-4.4836-5.5189
HLA-A11:014UQ22700GDAGPDAAGPDAAG-10.0067-10.1201
HLA-A11:014UQ22700GDAGPDAAGPDAAG-9.03915-10.0745
HLA-A24:025HGA2700GDAGPDAAGPDAAG-6.56204-6.67544
HLA-A24:025HGA2700GDAGPDAAGPDAAG-5.42271-6.45801
HLA-B44:053DX82700GDAGPDAAGPDAAG-7.85648-8.89178
HLA-B44:053DX82700GDAGPDAAGPDAAG-5.3978-5.5112
HLA-A02:016TDR2700GDAGPDAAGPDAAG-3.37154-4.40684
HLA-B14:023BVN5131LITLIEKVHIGVKG-7.61069-7.72409
HLA-B14:023BVN5131LITLIEKVHIGVKG-2.29293-3.32823
HLA-B52:013W395131LITLIEKVHIGVKG-6.76764-6.88104
HLA-B52:013W395131LITLIEKVHIGVKG-3.90727-4.94257
HLA-A11:014UQ25131LITLIEKVHIGVKG-11.195-12.2303
HLA-A11:014UQ25131LITLIEKVHIGVKG-7.09443-7.20783
HLA-A24:025HGA5131LITLIEKVHIGVKG-8.30681-8.42021
HLA-A24:025HGA5131LITLIEKVHIGVKG-6.99414-8.02944
HLA-B44:053DX85131LITLIEKVHIGVKG-5.51811-5.63151
HLA-B44:053DX85131LITLIEKVHIGVKG-4.01233-5.04763

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Vaccine Design for the FusionNeoAntigens of CPD-NF1

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
CPD-NF1chr1728766095chr17296761381121EKVHIGVKGFTGCCAGGGTACAGGCATCCTTCACCTGCTA
CPD-NF1chr1728766095chr17296761381221KVHIGVKGFCAGGGTACAGGCATCCTTCACCTGCTA
CPD-NF1chr1728766095chr17296761381222AAGPDAAGPLCAGGGTACAGGCATCCTTCACCTGCTATTG
CPD-NF1chr1728766095chr17296761381223AAGPDAAGPLLCAGGGTACAGGCATCCTTCACCTGCTATTGTTG
CPD-NF1chr1728766095chr1729676138414ESLITLIEKVATGGAGCTAGTTGGTATAATGTGCCAGGGT
CPD-NF1chr1728766095chr1729676138514SLITLIEKVGAGCTAGTTGGTATAATGTGCCAGGGT
CPD-NF1chr1728766095chr1729676138816TLIEKVHIGGTATAATGTGCCAGGGTACAGGC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
CPD-NF1chr1728766095chr1729676138217NRESLITLIEKVHIGTAACAAATGGAGCTAGTTGGTATAATGTGCCAGGGTACAGGCATC
CPD-NF1chr1728766095chr1729676138318RESLITLIEKVHIGVCAAATGGAGCTAGTTGGTATAATGTGCCAGGGTACAGGCATCCTT
CPD-NF1chr1728766095chr1729676138419ESLITLIEKVHIGVKATGGAGCTAGTTGGTATAATGTGCCAGGGTACAGGCATCCTTCAC
CPD-NF1chr1728766095chr1729676138520SLITLIEKVHIGVKGGAGCTAGTTGGTATAATGTGCCAGGGTACAGGCATCCTTCACCTG

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Information of the samples that have these potential fusion neoantigens of CPD-NF1

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
LUSCCPD-NF1chr1728766095ENST00000225719chr1729676138ENST00000356175TCGA-60-2704-01A
LUSCCPD-NF1chr1728766095ENST00000543464chr1729676138ENST00000356175TCGA-60-2704-01A

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Potential target of CAR-T therapy development for CPD-NF1

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 CPD-NF1

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 CPD-NF1

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
TgeneNF1C0027831Neurofibromatosis 144CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneNF1C1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome10CLINGEN
TgeneNF1C0349639Juvenile Myelomonocytic Leukemia7CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneNF1C2931482Neurofibromatosis-Noonan syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneNF1C0553586Cafe-au-lait macules with pulmonary stenosis5CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneNF1C0162678Neurofibromatoses3CGI;CTD_human;GENOMICS_ENGLAND
TgeneNF1C0004114Astrocytoma2CTD_human
TgeneNF1C0023467Leukemia, Myelocytic, Acute2CTD_human
TgeneNF1C0025202melanoma2CGI;CTD_human
TgeneNF1C0026998Acute Myeloid Leukemia, M12CTD_human
TgeneNF1C0205768Subependymal Giant Cell Astrocytoma2CTD_human
TgeneNF1C0206727Nerve Sheath Tumors2CTD_human
TgeneNF1C0280783Juvenile Pilocytic Astrocytoma2CTD_human
TgeneNF1C0280785Diffuse Astrocytoma2CTD_human
TgeneNF1C0334579Anaplastic astrocytoma2CTD_human
TgeneNF1C0334580Protoplasmic astrocytoma2CTD_human
TgeneNF1C0334581Gemistocytic astrocytoma2CTD_human
TgeneNF1C0334582Fibrillary Astrocytoma2CTD_human
TgeneNF1C0334583Pilocytic Astrocytoma2CTD_human
TgeneNF1C0338070Childhood Cerebral Astrocytoma2CTD_human
TgeneNF1C0547065Mixed oligoastrocytoma2CTD_human
TgeneNF1C0750935Cerebral Astrocytoma2CTD_human
TgeneNF1C0750936Intracranial Astrocytoma2CTD_human
TgeneNF1C0751689Peripheral Nerve Sheath Neoplasm2CTD_human
TgeneNF1C0751691Perineurioma2CTD_human
TgeneNF1C1704230Grade I Astrocytoma2CTD_human
TgeneNF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneNF1C1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
TgeneNF1C0001430Adenoma1CTD_human
TgeneNF1C0004352Autistic Disorder1CTD_human
TgeneNF1C0016057Fibrosarcoma1CTD_human
TgeneNF1C0017636Glioblastoma1CTD_human
TgeneNF1C0017638Glioma1CGI;CTD_human
TgeneNF1C0020796Profound Mental Retardation1CTD_human
TgeneNF1C0023186Learning Disorders1CTD_human
TgeneNF1C0023827liposarcoma1CTD_human
TgeneNF1C0025363Mental Retardation, Psychosocial1CTD_human
TgeneNF1C0026654Moyamoya Disease1GENOMICS_ENGLAND
TgeneNF1C0027809Neurilemmoma1CTD_human
TgeneNF1C0027830neurofibroma1CTD_human
TgeneNF1C0027962Melanocytic nevus1CTD_human
TgeneNF1C0028326Noonan Syndrome1GENOMICS_ENGLAND
TgeneNF1C0031511Pheochromocytoma1CTD_human
TgeneNF1C0035320Retinal Neovascularization1CTD_human
TgeneNF1C0205646Adenoma, Basal Cell1CTD_human
TgeneNF1C0205647Follicular adenoma1CTD_human
TgeneNF1C0205648Adenoma, Microcystic1CTD_human
TgeneNF1C0205649Adenoma, Monomorphic1CTD_human
TgeneNF1C0205650Papillary adenoma1CTD_human
TgeneNF1C0205651Adenoma, Trabecular1CTD_human
TgeneNF1C0205824Liposarcoma, Dedifferentiated1CTD_human
TgeneNF1C0205825Liposarcoma, Pleomorphic1CTD_human
TgeneNF1C0205944Sarcoma, Epithelioid1CTD_human
TgeneNF1C0205945Sarcoma, Spindle Cell1CTD_human
TgeneNF1C0259783mixed gliomas1CTD_human
TgeneNF1C0334588Giant Cell Glioblastoma1CTD_human
TgeneNF1C0555198Malignant Glioma1CTD_human
TgeneNF1C0751262Adult Learning Disorders1CTD_human
TgeneNF1C0751263Learning Disturbance1CTD_human
TgeneNF1C0751265Learning Disabilities1CTD_human
TgeneNF1C0751374Schwannomatosis, Plexiform1CTD_human
TgeneNF1C0917816Mental deficiency1CTD_human
TgeneNF1C0917817Neurofibromatosis 31CTD_human
TgeneNF1C1257877Pheochromocytoma, Extra-Adrenal1CTD_human
TgeneNF1C1261473Sarcoma1CTD_human
TgeneNF1C1330966Developmental Academic Disorder1CTD_human
TgeneNF1C1370889Liposarcoma, well differentiated1CTD_human
TgeneNF1C1621958Glioblastoma Multiforme1CTD_human
TgeneNF1C3150928NF1 Microdeletion Syndrome1ORPHANET
TgeneNF1C3714756Intellectual Disability1CTD_human