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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:SH3BGRL-JAK1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SH3BGRL-JAK1
FusionPDB ID: 81406
FusionGDB2.0 ID: 81406
HgeneTgene
Gene symbol

SH3BGRL

JAK1

Gene ID

6451

3716

Gene nameSH3 domain binding glutamate rich protein likeJanus kinase 1
SynonymsHEL-S-115|SH3BGRJAK1A|JAK1B|JTK3
Cytomap

Xq21.1

1p31.3

Type of geneprotein-codingprotein-coding
DescriptionSH3 domain-binding glutamic acid-rich-like proteinSH3 domain binding glutamic acid-rich protein likeSH3-binding domain glutamic acid-rich protein likeepididymis secretory protein Li 115tyrosine-protein kinase JAK1
Modification date2020031320200327
UniProtAcc.

P23458

Main function of 5'-partner protein: FUNCTION: Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:7615558). Kinase partner for the interleukin (IL)-2 receptor (PubMed:11909529) as well as interleukin (IL)-10 receptor (PubMed:12133952). {ECO:0000269|PubMed:11909529, ECO:0000269|PubMed:7615558}.
Ensembl transtripts involved in fusion geneENST idsENST00000481106, ENST00000373212, 
ENST00000342505, ENST00000465376, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 3=4819 X 18 X 6=2052
# samples 419
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/2052*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SH3BGRL [Title/Abstract] AND JAK1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SH3BGRL [Title/Abstract] AND JAK1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SH3BGRL(80457745)-JAK1(65335158), # samples:1
Anticipated loss of major functional domain due to fusion event.SH3BGRL-JAK1 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.
SH3BGRL-JAK1 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.
SH3BGRL-JAK1 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.
SH3BGRL-JAK1 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
TgeneJAK1

GO:0038110

interleukin-2-mediated signaling pathway

11909529

TgeneJAK1

GO:0046677

response to antibiotic

16280321



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/chrX:80457745/chr1:65335158)
- 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 SH3BGRL (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 JAK1 (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)
ENST00000373212SH3BGRLchrX80457745+ENST00000342505JAK1chr165335158-461830318332841033

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
ENST00000373212ENST00000342505SH3BGRLchrX80457745+JAK1chr165335158-0.0002325430.9997675

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 SH3BGRL-JAK1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SH3BGRLchrX80457745JAK1chr16533515830334AVPRMVIRVYIASSSGSTAGQYDLVK

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Potential FusionNeoAntigen Information of SH3BGRL-JAK1 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.

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)

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Potential FusionNeoAntigen Information of SH3BGRL-JAK1 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.
SH3BGRL-JAK1_80457745_65335158.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)
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0473RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0474IRVYIASSSGSTAGQ621
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0901IRVYIASSSGSTAGQ621
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0901VIRVYIASSSGSTAG520
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0902IRVYIASSSGSTAGQ621
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0902VIRVYIASSSGSTAG520
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0902RVYIASSSGSTAGQY722
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0903IRVYIASSSGSTAGQ621
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0905IRVYIASSSGSTAGQ621
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0907IRVYIASSSGSTAGQ621
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0907VIRVYIASSSGSTAG520
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0908IRVYIASSSGSTAGQ621
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0909IRVYIASSSGSTAGQ621
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-0909VIRVYIASSSGSTAG520
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1501RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1501PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1504RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1504PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1505RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1505PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1506RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1506PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1507RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1507PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1509RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1509PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1510RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1510PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1512RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1513RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1513PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1516RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1516PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1518RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1518PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1520RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1520PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1521RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1521PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1522RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1522PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1524RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1524PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1528RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1528PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1532RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1532PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1533RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1533PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1535RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1535PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1536RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1536PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1537RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1537PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1540RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1540PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1541RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1541PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1542RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1542PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1543RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1543PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1545RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1545PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1546RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1546PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1548RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1548PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1549RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB1-1549PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB5-0112IRVYIASSSGSTAGQ621
SH3BGRL-JAK1chrX80457745chr165335158303DRB5-0112VIRVYIASSSGSTAG520
SH3BGRL-JAK1chrX80457745chr165335158303DRB5-0202RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB5-0202PRMVIRVYIASSSGS217
SH3BGRL-JAK1chrX80457745chr165335158303DRB5-0204RMVIRVYIASSSGST318
SH3BGRL-JAK1chrX80457745chr165335158303DRB5-0204PRMVIRVYIASSSGS217

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Fusion breakpoint peptide structures of SH3BGRL-JAK1

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.

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SH3BGRL-JAK1

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 SH3BGRL-JAK1

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

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
SH3BGRL-JAK1chrX80457745chr165335158217PRMVIRVYIASSSGSGTATATATTGCATCTTCCTCTGGCTCTACAGCGGGACAGTATGAT
SH3BGRL-JAK1chrX80457745chr165335158318RMVIRVYIASSSGSTTATATTGCATCTTCCTCTGGCTCTACAGCGGGACAGTATGATTTG
SH3BGRL-JAK1chrX80457745chr165335158520VIRVYIASSSGSTAGGCATCTTCCTCTGGCTCTACAGCGGGACAGTATGATTTGGTGAAA
SH3BGRL-JAK1chrX80457745chr165335158621IRVYIASSSGSTAGQTCTTCCTCTGGCTCTACAGCGGGACAGTATGATTTGGTGAAATGC
SH3BGRL-JAK1chrX80457745chr165335158722RVYIASSSGSTAGQYTCCTCTGGCTCTACAGCGGGACAGTATGATTTGGTGAAATGCCTG

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Information of the samples that have these potential fusion neoantigens of SH3BGRL-JAK1

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

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Potential target of CAR-T therapy development for SH3BGRL-JAK1

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 SH3BGRL-JAK1

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 SH3BGRL-JAK1

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