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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:CDC42BPA-PRKG1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CDC42BPA-PRKG1
FusionPDB ID: 14839
FusionGDB2.0 ID: 14839
HgeneTgene
Gene symbol

CDC42BPA

PRKG1

Gene ID

8476

5592

Gene nameCDC42 binding protein kinase alphaprotein kinase cGMP-dependent 1
SynonymsMRCK|MRCKA|PK428AAT8|PKG|PKG1|PRKG1B|PRKGR1B|cGK|cGK 1|cGK1|cGKI|cGKI-BETA|cGKI-alpha
Cytomap

1q42.13

10q11.23-q21.1

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase MRCK alphaCDC42 binding protein kinase alpha (DMPK-like)CDC42 binding protein kinase betamyotonic dystrophy kinase-related CDC42-binding protein kinase alphamyotonic dystrophy protein kinase-like alphaser-thr protein kcGMP-dependent protein kinase 1protein kinase, cGMP-dependent, regulatory, type I, betaprotein kinase, cGMP-dependent, type I
Modification date2020031320200322
UniProtAcc

Q5VT25

Main function of 5'-partner protein: FUNCTION: Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration (PubMed:15723050, PubMed:9418861, PubMed:9092543). Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates: PPP1R12A, LIMK1 and LIMK2 (PubMed:11340065, PubMed:11399775). May play a role in TFRC-mediated iron uptake (PubMed:20188707). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity). Triggers the formation of an extrusion apical actin ring required for epithelial extrusion of apoptotic cells (PubMed:29162624). {ECO:0000250|UniProtKB:Q3UU96, ECO:0000269|PubMed:11340065, ECO:0000269|PubMed:11399775, ECO:0000269|PubMed:15723050, ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:20188707, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:29162624, ECO:0000269|PubMed:9092543, ECO:0000269|PubMed:9418861}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000334218, ENST00000366764, 
ENST00000366765, ENST00000366766, 
ENST00000366767, ENST00000366769, 
ENST00000535525, ENST00000488131, 
ENST00000373975, ENST00000373980, 
ENST00000373985, ENST00000401604, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 12 X 9=151214 X 13 X 6=1092
# samples 1514
** MAII scorelog2(15/1512*10)=-3.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/1092*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: CDC42BPA [Title/Abstract] AND PRKG1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: CDC42BPA [Title/Abstract] AND PRKG1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CDC42BPA(227268594)-PRKG1(52912924), # samples:2
Anticipated loss of major functional domain due to fusion event.CDC42BPA-PRKG1 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.
CDC42BPA-PRKG1 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.
CDC42BPA-PRKG1 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.
CDC42BPA-PRKG1 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
HgeneCDC42BPA

GO:0006468

protein phosphorylation

9092543

HgeneCDC42BPA

GO:0031532

actin cytoskeleton reorganization

9418861

TgenePRKG1

GO:0006468

protein phosphorylation

15905169

TgenePRKG1

GO:1904706

negative regulation of vascular smooth muscle cell proliferation

25447536

TgenePRKG1

GO:1904753

negative regulation of vascular associated smooth muscle cell migration

25447536



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/chr1:227268594/chr10:52912924)
- 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 CDC42BPA (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 PRKG1 (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)
ENST00000366767CDC42BPAchr1227268594-ENST00000401604PRKG1chr1052912924+56012237039861328
ENST00000366767CDC42BPAchr1227268594-ENST00000373985PRKG1chr1052912924+84372237039861328
ENST00000366767CDC42BPAchr1227268594-ENST00000373980PRKG1chr1052912924+84372237039861328
ENST00000366769CDC42BPAchr1227268594-ENST00000401604PRKG1chr1052912924+71363772129255211409
ENST00000366769CDC42BPAchr1227268594-ENST00000373985PRKG1chr1052912924+99723772129255211409
ENST00000366769CDC42BPAchr1227268594-ENST00000373980PRKG1chr1052912924+99723772129255211409
ENST00000366764CDC42BPAchr1227268594-ENST00000401604PRKG1chr1052912924+6787342394351721409
ENST00000366764CDC42BPAchr1227268594-ENST00000373985PRKG1chr1052912924+9623342394351721409
ENST00000366764CDC42BPAchr1227268594-ENST00000373980PRKG1chr1052912924+9623342394351721409
ENST00000334218CDC42BPAchr1227268594-ENST00000401604PRKG1chr1052912924+6787342394351721409
ENST00000334218CDC42BPAchr1227268594-ENST00000373985PRKG1chr1052912924+9623342394351721409
ENST00000334218CDC42BPAchr1227268594-ENST00000373980PRKG1chr1052912924+9623342394351721409
ENST00000366766CDC42BPAchr1227268594-ENST00000401604PRKG1chr1052912924+6787342394351721409
ENST00000366766CDC42BPAchr1227268594-ENST00000373985PRKG1chr1052912924+9623342394351721409
ENST00000366766CDC42BPAchr1227268594-ENST00000373980PRKG1chr1052912924+9623342394351721409
ENST00000535525CDC42BPAchr1227268594-ENST00000401604PRKG1chr1052912924+587125072742561409
ENST00000535525CDC42BPAchr1227268594-ENST00000373985PRKG1chr1052912924+870725072742561409
ENST00000535525CDC42BPAchr1227268594-ENST00000373980PRKG1chr1052912924+870725072742561409
ENST00000366765CDC42BPAchr1227268594-ENST00000401604PRKG1chr1052912924+6376301253247611409
ENST00000366765CDC42BPAchr1227268594-ENST00000373985PRKG1chr1052912924+9212301253247611409
ENST00000366765CDC42BPAchr1227268594-ENST00000373980PRKG1chr1052912924+9212301253247611409

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
ENST00000366767ENST00000401604CDC42BPAchr1227268594-PRKG1chr1052912924+0.0003942560.9996057
ENST00000366767ENST00000373985CDC42BPAchr1227268594-PRKG1chr1052912924+0.0001335190.9998665
ENST00000366767ENST00000373980CDC42BPAchr1227268594-PRKG1chr1052912924+0.0001335190.9998665
ENST00000366769ENST00000401604CDC42BPAchr1227268594-PRKG1chr1052912924+0.0011147470.9988852
ENST00000366769ENST00000373985CDC42BPAchr1227268594-PRKG1chr1052912924+0.0004870670.9995129
ENST00000366769ENST00000373980CDC42BPAchr1227268594-PRKG1chr1052912924+0.0004870670.9995129
ENST00000366764ENST00000401604CDC42BPAchr1227268594-PRKG1chr1052912924+0.0007769210.9992231
ENST00000366764ENST00000373985CDC42BPAchr1227268594-PRKG1chr1052912924+0.000346140.9996538
ENST00000366764ENST00000373980CDC42BPAchr1227268594-PRKG1chr1052912924+0.000346140.9996538
ENST00000334218ENST00000401604CDC42BPAchr1227268594-PRKG1chr1052912924+0.0007769210.9992231
ENST00000334218ENST00000373985CDC42BPAchr1227268594-PRKG1chr1052912924+0.000346140.9996538
ENST00000334218ENST00000373980CDC42BPAchr1227268594-PRKG1chr1052912924+0.000346140.9996538
ENST00000366766ENST00000401604CDC42BPAchr1227268594-PRKG1chr1052912924+0.0007769210.9992231
ENST00000366766ENST00000373985CDC42BPAchr1227268594-PRKG1chr1052912924+0.000346140.9996538
ENST00000366766ENST00000373980CDC42BPAchr1227268594-PRKG1chr1052912924+0.000346140.9996538
ENST00000535525ENST00000401604CDC42BPAchr1227268594-PRKG1chr1052912924+0.0004874650.99951255
ENST00000535525ENST00000373985CDC42BPAchr1227268594-PRKG1chr1052912924+0.0001558040.9998442
ENST00000535525ENST00000373980CDC42BPAchr1227268594-PRKG1chr1052912924+0.0001558040.9998442
ENST00000366765ENST00000401604CDC42BPAchr1227268594-PRKG1chr1052912924+0.0005272260.9994728
ENST00000366765ENST00000373985CDC42BPAchr1227268594-PRKG1chr1052912924+0.0002241060.99977595
ENST00000366765ENST00000373980CDC42BPAchr1227268594-PRKG1chr1052912924+0.0002241060.99977595

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 CDC42BPA-PRKG1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
CDC42BPAchr1227268594PRKG1chr10529129242237746AHWEAQITEIIQWSKDLIKEAILDND
CDC42BPAchr1227268594PRKG1chr10529129242507827AHWEAQITEIIQWSKDLIKEAILDND
CDC42BPAchr1227268594PRKG1chr10529129243012827AHWEAQITEIIQWSKDLIKEAILDND
CDC42BPAchr1227268594PRKG1chr10529129243423827AHWEAQITEIIQWSKDLIKEAILDND
CDC42BPAchr1227268594PRKG1chr10529129243772827AHWEAQITEIIQWSKDLIKEAILDND

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Potential FusionNeoAntigen Information of CDC42BPA-PRKG1 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.
CDC42BPA-PRKG1_227268594_52912924.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)
CDC42BPA-PRKG1chr1227268594chr10529129243423HLA-B52:01IQWSKDLI0.92770.91241018

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Potential FusionNeoAntigen Information of CDC42BPA-PRKG1 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.
CDC42BPA-PRKG1_227268594_52912924.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)
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1304ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1309ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1309QITEIIQWSKDLIKE520
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1317ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1332ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1343ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1343QITEIIQWSKDLIKE520
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1348ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1354ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1393ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1416ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1416QITEIIQWSKDLIKE520
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1437ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1437QITEIIQWSKDLIKE520
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1465ITEIIQWSKDLIKEA621
CDC42BPA-PRKG1chr1227268594chr10529129243423DRB1-1481ITEIIQWSKDLIKEA621

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Fusion breakpoint peptide structures of CDC42BPA-PRKG1

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
4016ITEIIQWSKDLIKECDC42BPAPRKG1chr1227268594chr10529129243423

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CDC42BPA-PRKG1

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-B14:023BVN4016ITEIIQWSKDLIKE-7.15543-7.26883
HLA-B14:023BVN4016ITEIIQWSKDLIKE-4.77435-5.80965
HLA-B52:013W394016ITEIIQWSKDLIKE-6.80875-6.92215
HLA-B52:013W394016ITEIIQWSKDLIKE-4.20386-5.23916
HLA-A11:014UQ24016ITEIIQWSKDLIKE-7.5194-8.5547
HLA-A11:014UQ24016ITEIIQWSKDLIKE-6.9601-7.0735
HLA-A24:025HGA4016ITEIIQWSKDLIKE-7.52403-7.63743
HLA-A24:025HGA4016ITEIIQWSKDLIKE-5.82433-6.85963
HLA-B27:056PYJ4016ITEIIQWSKDLIKE-3.28285-4.31815
HLA-B44:053DX84016ITEIIQWSKDLIKE-5.91172-6.94702
HLA-B44:053DX84016ITEIIQWSKDLIKE-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of CDC42BPA-PRKG1

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
CDC42BPA-PRKG1chr1227268594chr10529129241018IQWSKDLIAATTCAGTGGTCCAAGGATCTTAT

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
CDC42BPA-PRKG1chr1227268594chr1052912924520QITEIIQWSKDLIKECCAAATCACAGAAATAATTCAGTGGTCCAAGGATCTTATAAAGGA
CDC42BPA-PRKG1chr1227268594chr1052912924621ITEIIQWSKDLIKEAAATCACAGAAATAATTCAGTGGTCCAAGGATCTTATAAAGGAAGC

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Information of the samples that have these potential fusion neoantigens of CDC42BPA-PRKG1

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
HNSCCDC42BPA-PRKG1chr1227268594ENST00000334218chr1052912924ENST00000373980TCGA-CV-7407-01A

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Potential target of CAR-T therapy development for CDC42BPA-PRKG1

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 CDC42BPA-PRKG1

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 CDC42BPA-PRKG1

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