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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:MTSS1-BPTF

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MTSS1-BPTF
FusionPDB ID: 55906
FusionGDB2.0 ID: 55906
HgeneTgene
Gene symbol

MTSS1

BPTF

Gene ID

9788

2186

Gene nameMTSS I-BAR domain containing 1bromodomain PHD finger transcription factor
SynonymsMIM|MIMA|MIMBFAC1|FALZ|NEDDFL|NURF301
Cytomap

8q24.13

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionprotein MTSS 1MTSS1, I-BAR domain containingmetastasis suppressor 1metastasis suppressor YGL-1metastasis suppressor protein 1missing in metastasis proteinnucleosome-remodeling factor subunit BPTFbromodomain and PHD domain transcription factorbromodomain and PHD finger-containing transcription factorfetal Alz-50 clone 1 proteinfetal Alz-50 reactive clone 1fetal Alzheimer antigennucleosome remodeling f
Modification date2020031320200313
UniProtAcc

O43312

Main function of 5'-partner protein: FUNCTION: May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton.

Q12830

Main function of 5'-partner protein: FUNCTION: Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors.
Ensembl transtripts involved in fusion geneENST idsENST00000325064, ENST00000378017, 
ENST00000518547, ENST00000354184, 
ENST00000395508, ENST00000431961, 
ENST00000523587, ENST00000524090, 
ENST00000577770, ENST00000306378, 
ENST00000321892, ENST00000335221, 
ENST00000424123, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 13 X 9=140423 X 23 X 6=3174
# samples 1726
** MAII scorelog2(17/1404*10)=-3.04593628416686
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/3174*10)=-3.60971859980673
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: MTSS1 [Title/Abstract] AND BPTF [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: MTSS1 [Title/Abstract] AND BPTF [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MTSS1(125711766)-BPTF(65870932), # samples:1
Anticipated loss of major functional domain due to fusion event.MTSS1-BPTF 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.
MTSS1-BPTF 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.
MTSS1-BPTF 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.
MTSS1-BPTF 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
TgeneBPTF

GO:0000122

negative regulation of transcription by RNA polymerase II

10727212

TgeneBPTF

GO:0006338

chromatin remodeling

14609955



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/chr8:125711766/chr17:65870932)
- 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 MTSS1 (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 BPTF (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)
ENST00000378017MTSS1chr8125711766-ENST00000335221BPTFchr1765870932+94132716373222419
ENST00000378017MTSS1chr8125711766-ENST00000321892BPTFchr1765870932+98422716377512562
ENST00000378017MTSS1chr8125711766-ENST00000306378BPTFchr1765870932+82392716373732436
ENST00000378017MTSS1chr8125711766-ENST00000424123BPTFchr1765870932+73232716373222419
ENST00000518547MTSS1chr8125711766-ENST00000335221BPTFchr1765870932+982468247477332419
ENST00000518547MTSS1chr8125711766-ENST00000321892BPTFchr1765870932+1025368247481622562
ENST00000518547MTSS1chr8125711766-ENST00000306378BPTFchr1765870932+865068247477842436
ENST00000518547MTSS1chr8125711766-ENST00000424123BPTFchr1765870932+773468247477332419
ENST00000325064MTSS1chr8125711766-ENST00000335221BPTFchr1765870932+966852631875772419
ENST00000325064MTSS1chr8125711766-ENST00000321892BPTFchr1765870932+1009752631880062562
ENST00000325064MTSS1chr8125711766-ENST00000306378BPTFchr1765870932+849452631876282436
ENST00000325064MTSS1chr8125711766-ENST00000424123BPTFchr1765870932+757852631875772419

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
ENST00000378017ENST00000335221MTSS1chr8125711766-BPTFchr1765870932+0.0002564280.9997435
ENST00000378017ENST00000321892MTSS1chr8125711766-BPTFchr1765870932+0.00054140.9994586
ENST00000378017ENST00000306378MTSS1chr8125711766-BPTFchr1765870932+0.0008672620.9991328
ENST00000378017ENST00000424123MTSS1chr8125711766-BPTFchr1765870932+0.0007040190.99929595
ENST00000518547ENST00000335221MTSS1chr8125711766-BPTFchr1765870932+0.000365580.9996344
ENST00000518547ENST00000321892MTSS1chr8125711766-BPTFchr1765870932+0.0007873090.9992126
ENST00000518547ENST00000306378MTSS1chr8125711766-BPTFchr1765870932+0.0011727430.9988273
ENST00000518547ENST00000424123MTSS1chr8125711766-BPTFchr1765870932+0.0008441440.9991559
ENST00000325064ENST00000335221MTSS1chr8125711766-BPTFchr1765870932+0.0003106590.99968934
ENST00000325064ENST00000321892MTSS1chr8125711766-BPTFchr1765870932+0.0006761270.99932384
ENST00000325064ENST00000306378MTSS1chr8125711766-BPTFchr1765870932+0.0010284760.9989716
ENST00000325064ENST00000424123MTSS1chr8125711766-BPTFchr1765870932+0.0007627310.9992373

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 MTSS1-BPTF

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
MTSS1chr8125711766BPTFchr176587093227169AFQKVADMATNTREEILESIRAKKGD
MTSS1chr8125711766BPTFchr176587093252669AFQKVADMATNTREEILESIRAKKGD
MTSS1chr8125711766BPTFchr176587093268269AFQKVADMATNTREEILESIRAKKGD

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Potential FusionNeoAntigen Information of MTSS1-BPTF 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.
MTSS1-BPTF_125711766_65870932.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)
MTSS1-BPTFchr8125711766chr1765870932526HLA-B41:01REEILESI0.98550.79061220
MTSS1-BPTFchr8125711766chr1765870932526HLA-B39:13REEILESI0.94140.79091220
MTSS1-BPTFchr8125711766chr1765870932526HLA-B39:01TREEILESI0.99870.84581120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B39:06TREEILESI0.99830.64861120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B38:02TREEILESI0.99790.90751120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B38:01TREEILESI0.99780.89071120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B51:02MATNTREEI0.99450.5494716
MTSS1-BPTFchr8125711766chr1765870932526HLA-B45:01REEILESIRA0.99020.79241222
MTSS1-BPTFchr8125711766chr1765870932526HLA-B41:01REEILESIRA0.7960.8461222
MTSS1-BPTFchr8125711766chr1765870932526HLA-B50:01REEILESIRA0.78160.63461222
MTSS1-BPTFchr8125711766chr1765870932526HLA-B40:06REEILESI10.56171220
MTSS1-BPTFchr8125711766chr1765870932526HLA-B39:08REEILESI0.98570.71631220
MTSS1-BPTFchr8125711766chr1765870932526HLA-B39:12TREEILESI0.99850.85121120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B39:05TREEILESI0.99790.83091120
MTSS1-BPTFchr8125711766chr1765870932526HLA-C07:13TREEILESI0.98840.91231120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B73:01TREEILESI0.9580.56961120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B51:08MATNTREEI0.89660.7464716
MTSS1-BPTFchr8125711766chr1765870932526HLA-B73:01TREEILESIRA0.99270.58941122
MTSS1-BPTFchr8125711766chr1765870932526HLA-B40:04REEILESI0.99960.66281220
MTSS1-BPTFchr8125711766chr1765870932526HLA-B39:31TREEILESI0.99880.84631120
MTSS1-BPTFchr8125711766chr1765870932526HLA-C03:17MATNTREEI0.99870.98716
MTSS1-BPTFchr8125711766chr1765870932526HLA-B38:05TREEILESI0.99780.89071120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B27:09TREEILESI0.99510.89121120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B15:09TREEILESI0.93610.54051120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B39:11TREEILESI0.88850.64451120
MTSS1-BPTFchr8125711766chr1765870932526HLA-C06:08TREEILESI0.88120.97991120
MTSS1-BPTFchr8125711766chr1765870932526HLA-C07:04TREEILESI0.84890.92291120
MTSS1-BPTFchr8125711766chr1765870932526HLA-C07:22TREEILESI0.84590.71391120
MTSS1-BPTFchr8125711766chr1765870932526HLA-C06:17TREEILESI0.14240.98511120
MTSS1-BPTFchr8125711766chr1765870932526HLA-C06:02TREEILESI0.14240.98511120
MTSS1-BPTFchr8125711766chr1765870932526HLA-B50:05REEILESIRA0.78160.63461222
MTSS1-BPTFchr8125711766chr1765870932526HLA-B50:04REEILESIRA0.78160.63461222
MTSS1-BPTFchr8125711766chr1765870932526HLA-A30:01REEILESIRAK0.99410.75351223

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Potential FusionNeoAntigen Information of MTSS1-BPTF 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.
MTSS1-BPTF_125711766_65870932.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)
MTSS1-BPTFchr8125711766chr1765870932526DRB1-1438VADMATNTREEILES419
MTSS1-BPTFchr8125711766chr1765870932526DRB1-1438KVADMATNTREEILE318
MTSS1-BPTFchr8125711766chr1765870932526DRB1-1482VADMATNTREEILES419

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Fusion breakpoint peptide structures of MTSS1-BPTF

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
1249DMATNTREEILESIMTSS1BPTFchr8125711766chr1765870932526

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of MTSS1-BPTF

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-B14:023BVN1249DMATNTREEILESI-7.9962-8.1096
HLA-B14:023BVN1249DMATNTREEILESI-5.70842-6.74372
HLA-B52:013W391249DMATNTREEILESI-6.83737-6.95077
HLA-B52:013W391249DMATNTREEILESI-4.4836-5.5189
HLA-A11:014UQ21249DMATNTREEILESI-10.0067-10.1201
HLA-A11:014UQ21249DMATNTREEILESI-9.03915-10.0745
HLA-A24:025HGA1249DMATNTREEILESI-6.56204-6.67544
HLA-A24:025HGA1249DMATNTREEILESI-5.42271-6.45801
HLA-B44:053DX81249DMATNTREEILESI-7.85648-8.89178
HLA-B44:053DX81249DMATNTREEILESI-5.3978-5.5112
HLA-A02:016TDR1249DMATNTREEILESI-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of MTSS1-BPTF

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
MTSS1-BPTFchr8125711766chr17658709321120TREEILESICACGTGAAGAAATTTTGGAATCCATAA
MTSS1-BPTFchr8125711766chr17658709321122TREEILESIRACACGTGAAGAAATTTTGGAATCCATAAGAGCCA
MTSS1-BPTFchr8125711766chr17658709321220REEILESIGTGAAGAAATTTTGGAATCCATAA
MTSS1-BPTFchr8125711766chr17658709321222REEILESIRAGTGAAGAAATTTTGGAATCCATAAGAGCCA
MTSS1-BPTFchr8125711766chr17658709321223REEILESIRAKGTGAAGAAATTTTGGAATCCATAAGAGCCAAAA
MTSS1-BPTFchr8125711766chr1765870932716MATNTREEITGGCCACCAACACACGTGAAGAAATTT

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
MTSS1-BPTFchr8125711766chr1765870932318KVADMATNTREEILEAAGTGGCTGACATGGCCACCAACACACGTGAAGAAATTTTGGAAT
MTSS1-BPTFchr8125711766chr1765870932419VADMATNTREEILESTGGCTGACATGGCCACCAACACACGTGAAGAAATTTTGGAATCCA

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Information of the samples that have these potential fusion neoantigens of MTSS1-BPTF

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
ESCAMTSS1-BPTFchr8125711766ENST00000325064chr1765870932ENST00000306378TCGA-L5-A43H

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Potential target of CAR-T therapy development for MTSS1-BPTF

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 MTSS1-BPTF

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 MTSS1-BPTF

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