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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:CSPG4-SON

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CSPG4-SON
FusionPDB ID: 19903
FusionGDB2.0 ID: 19903
HgeneTgene
Gene symbol

CSPG4

SON

Gene ID

1464

6651

Gene namechondroitin sulfate proteoglycan 4SON DNA and RNA binding protein
SynonymsHMW-MAA|MCSP|MCSPG|MEL-CSPG|MSK16|NG2BASS1|C21orf50|DBP-5|NREBP|SON3|TOKIMS
Cytomap

15q24.2

21q22.11

Type of geneprotein-codingprotein-coding
Descriptionchondroitin sulfate proteoglycan 4chondroitin sulfate proteoglycan 4 (melanoma-associated)chondroitin sulfate proteoglycan NG2melanoma chondroitin sulfate proteoglycanmelanoma-associated chondroitin sulfate proteoglycanprotein SONBax antagonist selected in Saccharomyces 1NRE-binding proteinSON DNA binding proteinnegative regulatory element-binding protein
Modification date2020031320200313
UniProtAcc

Q6UVK1

Main function of 5'-partner protein: FUNCTION: Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Functions also as a signal transducing protein by binding through its cytoplasmic C-terminus scaffolding and signaling proteins. May promote retraction fiber formation and cell polarization through Rho GTPase activation. May stimulate alpha-4, beta-1 integrin-mediated adhesion and spreading by recruiting and activating a signaling cascade through CDC42, ACK1 and BCAR1. May activate FAK and ERK1/ERK2 signaling cascades. {ECO:0000269|PubMed:10587647, ECO:0000269|PubMed:11278606, ECO:0000269|PubMed:15210734}.

SHH

Main function of 5'-partner protein: 462
Ensembl transtripts involved in fusion geneENST idsENST00000308508, ENST00000470533, 
ENST00000300278, ENST00000381679, 
ENST00000290239, ENST00000356577, 
ENST00000381692, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 4 X 3=6016 X 15 X 5=1200
# samples 516
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1200*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: CSPG4 [Title/Abstract] AND SON [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: CSPG4 [Title/Abstract] AND SON [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CSPG4(75977076)-SON(34945612), # samples:1
Anticipated loss of major functional domain due to fusion event.CSPG4-SON 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.
CSPG4-SON 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.
CSPG4-SON 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.
CSPG4-SON 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
HgeneCSPG4

GO:0035556

intracellular signal transduction

10587647

HgeneCSPG4

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

10587647

TgeneSON

GO:0006397

mRNA processing

21504830

TgeneSON

GO:0043066

negative regulation of apoptotic process

10509013

TgeneSON

GO:0048024

regulation of mRNA splicing, via spliceosome

21504830



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/chr15:75977076/chr21:34945612)
- 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 CSPG4 (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 SON (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)
ENST00000308508CSPG4chr1575977076-ENST00000356577SONchr2134945612+599545429349371614
ENST00000308508CSPG4chr1575977076-ENST00000290239SONchr2134945612+602045429349371614
ENST00000308508CSPG4chr1575977076-ENST00000381692SONchr2134945612+599545429349371614

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
ENST00000308508ENST00000356577CSPG4chr1575977076-SONchr2134945612+0.001260610.9987394
ENST00000308508ENST00000290239CSPG4chr1575977076-SONchr2134945612+0.0012145380.99878544
ENST00000308508ENST00000381692CSPG4chr1575977076-SONchr2134945612+0.001260610.9987394

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 CSPG4-SON

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
CSPG4chr1575977076SONchr213494561245421483DQPPILTTNTGLQDQFLRAAPVTGGM

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Potential FusionNeoAntigen Information of CSPG4-SON 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.
CSPG4-SON_75977076_34945612.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)
CSPG4-SONchr1575977076chr21349456124542HLA-A02:22GLQDQFLRA0.99120.70951019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:60GLQDQFLRA0.99030.66541019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:30GLQDQFLRA0.99010.65561019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:24GLQDQFLRA0.99010.65561019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:67GLQDQFLRA0.99010.65561019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:11GLQDQFLRA0.98990.65721019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:27GLQDQFLRA0.98830.70841019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:13GLQDQFLRA0.98560.79221019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:21GLQDQFLRA0.98280.73691019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:38GLQDQFLRA0.98130.75491019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:19GLQDQFLRA0.87760.67441019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:29GLQDQFLRA0.82540.66241019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:20GLQDQFLRA0.81010.66121019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:35GLQDQFLRA0.78060.67021019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:02GLQDQFLRA0.99110.69021019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:01GLQDQFLRA0.99010.65561019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:03GLQDQFLRA0.990.80141019
CSPG4-SONchr1575977076chr21349456124542HLA-A02:06GLQDQFLRA0.98280.73691019
CSPG4-SONchr1575977076chr21349456124542HLA-B57:02TTNTGLQDQF0.99580.9587616

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Potential FusionNeoAntigen Information of CSPG4-SON 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.
CSPG4-SON_75977076_34945612.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)
CSPG4-SONchr1575977076chr21349456124542DRB1-0403QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0403DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0413QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0413DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0415DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0415QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0427QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0427DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0436DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0436QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0439QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0439DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0440QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0440DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0441QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0441DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0442QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0442DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0446QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0446DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0449QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0449DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0450QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0450DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0451DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0451QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0452QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0452DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0453QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0453DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0455QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0455DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0456QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0456DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0458QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0458DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0459QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0459DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0460QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0460DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0465QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0465DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0467DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0468QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0468DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0470QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0471QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0471DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0478QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0478DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0485QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0485DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0488QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB1-0488DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-0902LQDQFLRAAPVTGGM1126
CSPG4-SONchr1575977076chr21349456124542DRB1-0902GLQDQFLRAAPVTGG1025
CSPG4-SONchr1575977076chr21349456124542DRB1-1001LQDQFLRAAPVTGGM1126
CSPG4-SONchr1575977076chr21349456124542DRB1-1003LQDQFLRAAPVTGGM1126
CSPG4-SONchr1575977076chr21349456124542DRB1-1410DQPPILTTNTGLQDQ015
CSPG4-SONchr1575977076chr21349456124542DRB1-1410QPPILTTNTGLQDQF116
CSPG4-SONchr1575977076chr21349456124542DRB3-0204QPPILTTNTGLQDQF116

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Fusion breakpoint peptide structures of CSPG4-SON

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
9701TTNTGLQDQFLRAACSPG4SONchr1575977076chr21349456124542

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CSPG4-SON

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

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Vaccine Design for the FusionNeoAntigens of CSPG4-SON

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
CSPG4-SONchr1575977076chr21349456121019GLQDQFLRAGGCCTGCAGGATCAGTTCTTAAGAGCA
CSPG4-SONchr1575977076chr2134945612616TTNTGLQDQFACTACAAACACAGGCCTGCAGGATCAGTTC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
CSPG4-SONchr1575977076chr2134945612015DQPPILTTNTGLQDQGACCAACCCCCCATCCTCACTACAAACACAGGCCTGCAGGATCAG
CSPG4-SONchr1575977076chr2134945612116QPPILTTNTGLQDQFCAACCCCCCATCCTCACTACAAACACAGGCCTGCAGGATCAGTTC
CSPG4-SONchr1575977076chr21349456121025GLQDQFLRAAPVTGGGGCCTGCAGGATCAGTTCTTAAGAGCAGCCCCGGTAACTGGAGGA
CSPG4-SONchr1575977076chr21349456121126LQDQFLRAAPVTGGMCTGCAGGATCAGTTCTTAAGAGCAGCCCCGGTAACTGGAGGAATG

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Information of the samples that have these potential fusion neoantigens of CSPG4-SON

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
N/ACSPG4-SONchr1575977076ENST00000308508chr2134945612ENST00000290239CD172355

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Potential target of CAR-T therapy development for CSPG4-SON

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 CSPG4-SON

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 CSPG4-SON

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