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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:EHBP1L1-MTCH2

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EHBP1L1-MTCH2
FusionPDB ID: 25539
FusionGDB2.0 ID: 25539
HgeneTgene
Gene symbol

EHBP1L1

MTCH2

Gene ID

254102

23788

Gene nameEH domain binding protein 1 like 1mitochondrial carrier 2
Synonyms-HSPC032|MIMP|SLC25A50
Cytomap

11q13.1

11p11.2

Type of geneprotein-codingprotein-coding
DescriptionEH domain-binding protein 1-like protein 1tangerinmitochondrial carrier homolog 22310034D24Rikmet-induced mitochondrial proteinsolute carrier family 25, member 50
Modification date2020031320200313
UniProtAcc

Q8N3D4

Main function of 5'-partner protein: FUNCTION: May act as Rab effector protein and play a role in vesicle trafficking. {ECO:0000305|PubMed:27552051}.

Q9Y6C9

Main function of 5'-partner protein: FUNCTION: The substrate transported is not yet known. Induces mitochondrial depolarization.
Ensembl transtripts involved in fusion geneENST idsENST00000309295, ENST00000529596, 
ENST00000533364, 
ENST00000542981, 
ENST00000534074, ENST00000302503, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 6 X 5=2406 X 8 X 5=240
# samples 99
** MAII scorelog2(9/240*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/240*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: EHBP1L1 [Title/Abstract] AND MTCH2 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: EHBP1L1 [Title/Abstract] AND MTCH2 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EHBP1L1(65346907)-MTCH2(47657123), # samples:1
Anticipated loss of major functional domain due to fusion event.EHBP1L1-MTCH2 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.
EHBP1L1-MTCH2 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


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/chr11:65346907/chr11:47657123)
- 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 EHBP1L1 (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 MTCH2 (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)
ENST00000309295EHBP1L1chr1165346907+ENST00000302503MTCH2chr1147657123-26735232651155296

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
ENST00000309295ENST00000302503EHBP1L1chr1165346907+MTCH2chr1147657123-0.003907720.99609226

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 EHBP1L1-MTCH2

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
EHBP1L1chr1165346907MTCH2chr114765712352386VPENVDISVTLYRHYQESDKGEELGP

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Potential FusionNeoAntigen Information of EHBP1L1-MTCH2 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.
EHBP1L1-MTCH2_65346907_47657123.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)
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-B57:01ISVTLYRHY0.99710.7496615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-B15:17ISVTLYRHY0.99570.5916615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-B58:02ISVTLYRHY0.99170.5644615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-B58:01ISVTLYRHY0.98630.5041615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C15:04ISVTLYRHY0.77610.6317615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C03:14ISVTLYRHY0.39340.8987615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C12:04ISVTLYRHY0.10980.957615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C06:03ISVTLYRHY0.09210.9496615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C12:12ISVTLYRHY0.08310.7639615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-B57:10ISVTLYRHY0.99710.7496615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C03:02ISVTLYRHY0.94720.8088615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C15:09ISVTLYRHY0.77610.6317615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C16:04ISVTLYRHY0.66180.9134615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C12:02ISVTLYRHY0.50340.845615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C16:01ISVTLYRHY0.37830.9425615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C12:03ISVTLYRHY0.26560.8618615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C16:02ISVTLYRHY0.10180.9655615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C02:02ISVTLYRHY0.00150.8726615
EHBP1L1-MTCH2chr1165346907chr1147657123523HLA-C02:10ISVTLYRHY0.00150.8726615

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Potential FusionNeoAntigen Information of EHBP1L1-MTCH2 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.
EHBP1L1-MTCH2_65346907_47657123.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)
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-0810DISVTLYRHYQESDK520
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-0812DISVTLYRHYQESDK520
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-0829YRHYQESDKGEELGP1126
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-0840YRHYQESDKGEELGP1126
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1303YRHYQESDKGEELGP1126
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1303LYRHYQESDKGEELG1025
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1304DISVTLYRHYQESDK520
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-13101YRHYQESDKGEELGP1126
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-13101LYRHYQESDKGEELG1025
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1310YRHYQESDKGEELGP1126
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1310LYRHYQESDKGEELG1025
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1366YRHYQESDKGEELGP1126
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1388YRHYQESDKGEELGP1126
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1388LYRHYQESDKGEELG1025
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1390YRHYQESDKGEELGP1126
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1390LYRHYQESDKGEELG1025
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1393DISVTLYRHYQESDK520
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1395YRHYQESDKGEELGP1126
EHBP1L1-MTCH2chr1165346907chr1147657123523DRB1-1395LYRHYQESDKGEELG1025

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Fusion breakpoint peptide structures of EHBP1L1-MTCH2

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
4007ISVTLYRHYQESDKEHBP1L1MTCH2chr1165346907chr1147657123523

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of EHBP1L1-MTCH2

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-B14:023BVN4007ISVTLYRHYQESDK-5.71086-5.94836
HLA-B14:023BVN4007ISVTLYRHYQESDK-5.50145-6.15805
HLA-B52:013W394007ISVTLYRHYQESDK-5.61563-5.85313
HLA-B52:013W394007ISVTLYRHYQESDK-5.1014-5.758
HLA-A11:014UQ24007ISVTLYRHYQESDK-9.55176-10.2084
HLA-A11:014UQ24007ISVTLYRHYQESDK-8.05822-8.29572
HLA-A24:025HGA4007ISVTLYRHYQESDK-8.8211-9.0586
HLA-A24:025HGA4007ISVTLYRHYQESDK-7.27152-7.92812
HLA-B27:036PZ54007ISVTLYRHYQESDK-2.34921-3.00581
HLA-B44:053DX84007ISVTLYRHYQESDK-6.20582-6.44332
HLA-B44:053DX84007ISVTLYRHYQESDK-3.78813-4.44473

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Vaccine Design for the FusionNeoAntigens of EHBP1L1-MTCH2

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
EHBP1L1-MTCH2chr1165346907chr1147657123615ISVTLYRHYATCTCTGTGACCCTCTACAGGCATTAC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
EHBP1L1-MTCH2chr1165346907chr11476571231025LYRHYQESDKGEELGCTCTACAGGCATTACCAGGAGAGTGACAAGGGTGAGGAGTTAGGA
EHBP1L1-MTCH2chr1165346907chr11476571231126YRHYQESDKGEELGPTACAGGCATTACCAGGAGAGTGACAAGGGTGAGGAGTTAGGACCT
EHBP1L1-MTCH2chr1165346907chr1147657123520DISVTLYRHYQESDKGACATCTCTGTGACCCTCTACAGGCATTACCAGGAGAGTGACAAG

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Information of the samples that have these potential fusion neoantigens of EHBP1L1-MTCH2

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
STADEHBP1L1-MTCH2chr1165346907ENST00000309295chr1147657123ENST00000302503TCGA-MX-A663-01A

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Potential target of CAR-T therapy development for EHBP1L1-MTCH2

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
TgeneMTCH2chr11:65346907chr11:47657123ENST00000302503213175_1950304.0TransmembraneHelical
TgeneMTCH2chr11:65346907chr11:47657123ENST00000302503213224_2440304.0TransmembraneHelical

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 EHBP1L1-MTCH2

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 EHBP1L1-MTCH2

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