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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:SGSM2-EIF2B4

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SGSM2-EIF2B4
FusionPDB ID: 81354
FusionGDB2.0 ID: 81354
HgeneTgene
Gene symbol

SGSM2

EIF2B4

Gene ID

9905

8890

Gene namesmall G protein signaling modulator 2eukaryotic translation initiation factor 2B subunit delta
SynonymsRUTBC1EIF-2B|EIF2B|EIF2Bdelta
Cytomap

17p13.3

2p23.3

Type of geneprotein-codingprotein-coding
Descriptionsmall G protein signaling modulator 2RUN and TBC1 domain containing 1small G protein signaling modulator 2 proteintranslation initiation factor eIF-2B subunit deltaeIF-2B GDP-GTP exchange factor subunit deltaeukaryotic translation initiation factor 2B subunit 4 deltaeukaryotic translation initiation factor 2B, subunit 4 delta, 67kDatranslation initiation factor e
Modification date2020031320200313
UniProtAcc.

Q9UI10

Main function of 5'-partner protein: FUNCTION: Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Ensembl transtripts involved in fusion geneENST idsENST00000268989, ENST00000426855, 
ENST00000574563, 
ENST00000347454, 
ENST00000445933, ENST00000451130, 
ENST00000493344, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 5=1502 X 2 X 1=4
# samples 62
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Fusion gene context

PubMed: SGSM2 [Title/Abstract] AND EIF2B4 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SGSM2 [Title/Abstract] AND EIF2B4 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SGSM2(2276807)-EIF2B4(27591330), # samples:1
Anticipated loss of major functional domain due to fusion event.SGSM2-EIF2B4 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.
SGSM2-EIF2B4 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.
SGSM2-EIF2B4 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.
SGSM2-EIF2B4 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
TgeneEIF2B4

GO:0006413

translational initiation

16289705

TgeneEIF2B4

GO:0050852

T cell receptor signaling pathway

8626696



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/chr17:2276807/chr2:27591330)
- 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 SGSM2 (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 EIF2B4 (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)
ENST00000268989SGSM2chr172276807+ENST00000347454EIF2B4chr227591330-3399227717733501057
ENST00000268989SGSM2chr172276807+ENST00000445933EIF2B4chr227591330-3370227717733501057
ENST00000268989SGSM2chr172276807+ENST00000451130EIF2B4chr227591330-3352227717733501057
ENST00000268989SGSM2chr172276807+ENST00000493344EIF2B4chr227591330-3352227717733501057
ENST00000426855SGSM2chr172276807+ENST00000347454EIF2B4chr227591330-3262214017532131012
ENST00000426855SGSM2chr172276807+ENST00000445933EIF2B4chr227591330-3233214017532131012
ENST00000426855SGSM2chr172276807+ENST00000451130EIF2B4chr227591330-3215214017532131013
ENST00000426855SGSM2chr172276807+ENST00000493344EIF2B4chr227591330-3215214017532131013
ENST00000574563SGSM2chr172276807+ENST00000347454EIF2B4chr227591330-315420326731051012
ENST00000574563SGSM2chr172276807+ENST00000445933EIF2B4chr227591330-312520326731051012
ENST00000574563SGSM2chr172276807+ENST00000451130EIF2B4chr227591330-310720326731051013
ENST00000574563SGSM2chr172276807+ENST00000493344EIF2B4chr227591330-310720326731051013

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
ENST00000268989ENST00000347454SGSM2chr172276807+EIF2B4chr227591330-0.0045919580.995408
ENST00000268989ENST00000445933SGSM2chr172276807+EIF2B4chr227591330-0.0047000540.99529994
ENST00000268989ENST00000451130SGSM2chr172276807+EIF2B4chr227591330-0.0049927580.9950073
ENST00000268989ENST00000493344SGSM2chr172276807+EIF2B4chr227591330-0.0049927580.9950073
ENST00000426855ENST00000347454SGSM2chr172276807+EIF2B4chr227591330-0.0054933780.99450666
ENST00000426855ENST00000445933SGSM2chr172276807+EIF2B4chr227591330-0.0055925150.99440753
ENST00000426855ENST00000451130SGSM2chr172276807+EIF2B4chr227591330-0.0059470930.99405295
ENST00000426855ENST00000493344SGSM2chr172276807+EIF2B4chr227591330-0.0059470930.99405295
ENST00000574563ENST00000347454SGSM2chr172276807+EIF2B4chr227591330-0.0047025730.9952975
ENST00000574563ENST00000445933SGSM2chr172276807+EIF2B4chr227591330-0.0048112480.9951887
ENST00000574563ENST00000451130SGSM2chr172276807+EIF2B4chr227591330-0.0051177240.99488235
ENST00000574563ENST00000493344SGSM2chr172276807+EIF2B4chr227591330-0.0051177240.99488235

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 SGSM2-EIF2B4

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SGSM2chr172276807EIF2B4chr2275913302032655QRLIHRDSTISNDVPTRKDYGSKVSL
SGSM2chr172276807EIF2B4chr2275913302140655QRLIHRDSTISNDVPTRKDYGSKVSL
SGSM2chr172276807EIF2B4chr2275913302277700QRLIHRDSTISNDVPTRKDYGSKVSL

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Potential FusionNeoAntigen Information of SGSM2-EIF2B4 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.
SGSM2-EIF2B4_2276807_27591330.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)
SGSM2-EIF2B4chr172276807chr2275913302277HLA-A30:08ISNDVPTRK0.95330.6884918
SGSM2-EIF2B4chr172276807chr2275913302277HLA-B15:17ISNDVPTRKDY0.99920.5802920
SGSM2-EIF2B4chr172276807chr2275913302277HLA-C15:04ISNDVPTRKDY0.99840.6633920
SGSM2-EIF2B4chr172276807chr2275913302277HLA-A30:01ISNDVPTRK0.94780.7542918
SGSM2-EIF2B4chr172276807chr2275913302277HLA-C15:09ISNDVPTRKDY0.99840.6633920

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Potential FusionNeoAntigen Information of SGSM2-EIF2B4 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.
SGSM2-EIF2B4_2276807_27591330.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)
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0301DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0313DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0318DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0322DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0326QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0326DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0328DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0330DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0332DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0334DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0336DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0342QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0342DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0344DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0346DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0348DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0350DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0352DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0354DSTISNDVPTRKDYG621
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0401QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0413QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0422QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0422RLIHRDSTISNDVPT116
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0433QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0434QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0435QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0438QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0444QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0463QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0464QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0466QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0472QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB1-0476QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB3-0201QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB3-0204QRLIHRDSTISNDVP015
SGSM2-EIF2B4chr172276807chr2275913302277DRB3-0224QRLIHRDSTISNDVP015

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Fusion breakpoint peptide structures of SGSM2-EIF2B4

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
1428DSTISNDVPTRKDYSGSM2EIF2B4chr172276807chr2275913302277

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SGSM2-EIF2B4

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-B14:023BVN1428DSTISNDVPTRKDY-6.47247-6.58587
HLA-B14:023BVN1428DSTISNDVPTRKDY-3.26921-4.30451
HLA-B52:013W391428DSTISNDVPTRKDY-5.92674-6.04014
HLA-B52:013W391428DSTISNDVPTRKDY-5.3598-6.3951
HLA-A11:014UQ21428DSTISNDVPTRKDY-7.28003-7.39343
HLA-A24:025HGA1428DSTISNDVPTRKDY-4.52753-5.56283
HLA-A24:025HGA1428DSTISNDVPTRKDY-4.40446-4.51786
HLA-B44:053DX81428DSTISNDVPTRKDY-7.17875-7.29215
HLA-B44:053DX81428DSTISNDVPTRKDY-3.53326-4.56856

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Vaccine Design for the FusionNeoAntigens of SGSM2-EIF2B4

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
SGSM2-EIF2B4chr172276807chr227591330918ISNDVPTRKATCAGCAACGATGTTCCTACACGAAAG
SGSM2-EIF2B4chr172276807chr227591330920ISNDVPTRKDYATCAGCAACGATGTTCCTACACGAAAGGATTAT

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
SGSM2-EIF2B4chr172276807chr227591330015QRLIHRDSTISNDVPCAGCGCCTCATCCACCGAGACTCCACCATCAGCAACGATGTTCCT
SGSM2-EIF2B4chr172276807chr227591330116RLIHRDSTISNDVPTCGCCTCATCCACCGAGACTCCACCATCAGCAACGATGTTCCTACA
SGSM2-EIF2B4chr172276807chr227591330621DSTISNDVPTRKDYGGACTCCACCATCAGCAACGATGTTCCTACACGAAAGGATTATGGA

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Information of the samples that have these potential fusion neoantigens of SGSM2-EIF2B4

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
SKCMSGSM2-EIF2B4chr172276807ENST00000268989chr227591330ENST00000347454TCGA-FS-A1YX-06A

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Potential target of CAR-T therapy development for SGSM2-EIF2B4

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 SGSM2-EIF2B4

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 SGSM2-EIF2B4

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