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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:MTOR-CAMTA1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MTOR-CAMTA1
FusionPDB ID: 55842
FusionGDB2.0 ID: 55842
HgeneTgene
Gene symbol

MTOR

CAMTA1

Gene ID

2475

23261

Gene namemechanistic target of rapamycin kinasecalmodulin binding transcription activator 1
SynonymsFRAP|FRAP1|FRAP2|RAFT1|RAPT1|SKSCANPMR
Cytomap

1p36.22

1p36.31-p36.23

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase mTORFK506 binding protein 12-rapamycin associated protein 2FK506-binding protein 12-rapamycin complex-associated protein 1FKBP-rapamycin associated proteinFKBP12-rapamycin complex-associated protein 1mammalian target ocalmodulin-binding transcription activator 1
Modification date2020032920200315
UniProtAcc

TLDC1

Main function of 5'-partner protein: 456

Q9Y6Y1

Main function of 5'-partner protein: FUNCTION: Transcriptional activator. May act as a tumor suppressor. {ECO:0000269|PubMed:11925432, ECO:0000269|PubMed:15709179}.
Ensembl transtripts involved in fusion geneENST idsENST00000361445, ENST00000376838, 
ENST00000495435, 
ENST00000467404, 
ENST00000473578, ENST00000476163, 
ENST00000476864, ENST00000557126, 
ENST00000303635, ENST00000439411, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 13 X 7=100121 X 19 X 8=3192
# samples 1324
** MAII scorelog2(13/1001*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(24/3192*10)=-3.73335434061383
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: MTOR [Title/Abstract] AND CAMTA1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: MTOR [Title/Abstract] AND CAMTA1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MTOR(11313896)-CAMTA1(6880241), # samples:3
Anticipated loss of major functional domain due to fusion event.MTOR-CAMTA1 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.
MTOR-CAMTA1 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.
MTOR-CAMTA1 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.
MTOR-CAMTA1 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
HgeneMTOR

GO:0001558

regulation of cell growth

18762023

HgeneMTOR

GO:0001934

positive regulation of protein phosphorylation

20233713

HgeneMTOR

GO:0006468

protein phosphorylation

12150926|15467718|18925875

HgeneMTOR

GO:0009267

cellular response to starvation

28223137

HgeneMTOR

GO:0010507

negative regulation of autophagy

30704899

HgeneMTOR

GO:0016242

negative regulation of macroautophagy

25327288

HgeneMTOR

GO:0016310

phosphorylation

11853878|25327288

HgeneMTOR

GO:0031667

response to nutrient levels

29750193

HgeneMTOR

GO:0034198

cellular response to amino acid starvation

22424946

HgeneMTOR

GO:0038202

TORC1 signaling

28223137

HgeneMTOR

GO:0043200

response to amino acid

18497260

HgeneMTOR

GO:0045727

positive regulation of translation

18762023

HgeneMTOR

GO:0046777

protein autophosphorylation

15467718

HgeneMTOR

GO:0071230

cellular response to amino acid stimulus

22424946

HgeneMTOR

GO:0071233

cellular response to leucine

22424946

HgeneMTOR

GO:1990253

cellular response to leucine starvation

22424946



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/chr1:11313896/chr1:6880241)
- 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 MTOR (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 CAMTA1 (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)
ENST00000361445MTORchr111313896-ENST00000303635CAMTA1chr16880241+9109917558931962
ENST00000361445MTORchr111313896-ENST00000439411CAMTA1chr16880241+5852917558511949
ENST00000361445MTORchr111313895-ENST00000303635CAMTA1chr16880240+9109917558931962
ENST00000361445MTORchr111313895-ENST00000439411CAMTA1chr16880240+5852917558511949

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
ENST00000361445ENST00000303635MTORchr111313896-CAMTA1chr16880241+0.0004452250.9995548
ENST00000361445ENST00000439411MTORchr111313896-CAMTA1chr16880241+0.0037538050.99624616
ENST00000361445ENST00000303635MTORchr111313895-CAMTA1chr16880240+0.0004452250.9995548
ENST00000361445ENST00000439411MTORchr111313895-CAMTA1chr16880240+0.0037538050.99624616

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 MTOR-CAMTA1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
MTORchr111313895CAMTA1chr16880240917304LNELVRISSMEGESVSQSVFCGTSTY
MTORchr111313896CAMTA1chr16880241917304LNELVRISSMEGESVSQSVFCGTSTY

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Potential FusionNeoAntigen Information of MTOR-CAMTA1 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.
MTOR-CAMTA1_11313895_6880240.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)
MTOR-CAMTA1chr111313895chr16880240917HLA-B41:01GESVSQSV0.95170.93751119
MTOR-CAMTA1chr111313895chr16880240917HLA-B50:01GESVSQSV0.91530.81091119
MTOR-CAMTA1chr111313895chr16880240917HLA-B44:03GESVSQSVF0.99850.97481120
MTOR-CAMTA1chr111313895chr16880240917HLA-B47:01GESVSQSVF0.99520.69111120
MTOR-CAMTA1chr111313895chr16880240917HLA-B18:01GESVSQSVF0.86780.89851120
MTOR-CAMTA1chr111313895chr16880240917HLA-B15:03GESVSQSVF0.26360.88521120
MTOR-CAMTA1chr111313895chr16880240917HLA-B39:13GESVSQSVF0.21550.93711120
MTOR-CAMTA1chr111313895chr16880240917HLA-B44:03EGESVSQSVF0.71840.95531020
MTOR-CAMTA1chr111313895chr16880240917HLA-B40:06GESVSQSV0.99990.86421119
MTOR-CAMTA1chr111313895chr16880240917HLA-B39:08GESVSQSVF0.33630.91171120
MTOR-CAMTA1chr111313895chr16880240917HLA-B40:04GESVSQSV0.99960.82981119
MTOR-CAMTA1chr111313895chr16880240917HLA-B41:03GESVSQSV0.98720.70321119
MTOR-CAMTA1chr111313895chr16880240917HLA-B50:04GESVSQSV0.91530.81091119
MTOR-CAMTA1chr111313895chr16880240917HLA-B50:05GESVSQSV0.91530.81091119
MTOR-CAMTA1chr111313895chr16880240917HLA-B44:07GESVSQSVF0.99850.97481120
MTOR-CAMTA1chr111313895chr16880240917HLA-B44:26GESVSQSVF0.99850.97481120
MTOR-CAMTA1chr111313895chr16880240917HLA-B44:13GESVSQSVF0.99850.97481120
MTOR-CAMTA1chr111313895chr16880240917HLA-B40:04GESVSQSVF0.99390.77331120
MTOR-CAMTA1chr111313895chr16880240917HLA-B18:08GESVSQSVF0.87950.90721120
MTOR-CAMTA1chr111313895chr16880240917HLA-B18:05GESVSQSVF0.86780.89851120
MTOR-CAMTA1chr111313895chr16880240917HLA-B18:04GESVSQSVF0.86440.90831120
MTOR-CAMTA1chr111313895chr16880240917HLA-B18:11GESVSQSVF0.86370.90671120
MTOR-CAMTA1chr111313895chr16880240917HLA-B18:03GESVSQSVF0.86150.89021120
MTOR-CAMTA1chr111313895chr16880240917HLA-B15:53GESVSQSVF0.67360.94441120
MTOR-CAMTA1chr111313895chr16880240917HLA-B41:03GESVSQSVF0.48330.55411120
MTOR-CAMTA1chr111313895chr16880240917HLA-B35:28GESVSQSVF0.44370.9031120
MTOR-CAMTA1chr111313895chr16880240917HLA-B48:02GESVSQSVF0.30510.88831120
MTOR-CAMTA1chr111313895chr16880240917HLA-B15:54GESVSQSVF0.26210.93261120
MTOR-CAMTA1chr111313895chr16880240917HLA-B44:07EGESVSQSVF0.71840.95531020
MTOR-CAMTA1chr111313895chr16880240917HLA-B44:13EGESVSQSVF0.71840.95531020
MTOR-CAMTA1chr111313895chr16880240917HLA-B44:26EGESVSQSVF0.71840.95531020

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Potential FusionNeoAntigen Information of MTOR-CAMTA1 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.
MTOR-CAMTA1_11313895_6880240.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)
MTOR-CAMTA1chr111313895chr16880240917DRB1-0101LVRISSMEGESVSQS318
MTOR-CAMTA1chr111313895chr16880240917DRB1-0102LVRISSMEGESVSQS318
MTOR-CAMTA1chr111313895chr16880240917DRB1-0102ELVRISSMEGESVSQ217
MTOR-CAMTA1chr111313895chr16880240917DRB1-0102VRISSMEGESVSQSV419
MTOR-CAMTA1chr111313895chr16880240917DRB1-0105LVRISSMEGESVSQS318
MTOR-CAMTA1chr111313895chr16880240917DRB1-0107LVRISSMEGESVSQS318
MTOR-CAMTA1chr111313895chr16880240917DRB1-0119LVRISSMEGESVSQS318
MTOR-CAMTA1chr111313895chr16880240917DRB1-0123LVRISSMEGESVSQS318
MTOR-CAMTA1chr111313895chr16880240917DRB1-0125LVRISSMEGESVSQS318
MTOR-CAMTA1chr111313895chr16880240917DRB1-0127LVRISSMEGESVSQS318
MTOR-CAMTA1chr111313895chr16880240917DRB1-0131LVRISSMEGESVSQS318
MTOR-CAMTA1chr111313895chr16880240917DRB1-0442LNELVRISSMEGESV015
MTOR-CAMTA1chr111313895chr16880240917DRB1-0444LNELVRISSMEGESV015
MTOR-CAMTA1chr111313895chr16880240917DRB1-0453LNELVRISSMEGESV015
MTOR-CAMTA1chr111313895chr16880240917DRB1-0456LNELVRISSMEGESV015
MTOR-CAMTA1chr111313895chr16880240917DRB1-0458LNELVRISSMEGESV015
MTOR-CAMTA1chr111313895chr16880240917DRB1-0479LNELVRISSMEGESV015

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Fusion breakpoint peptide structures of MTOR-CAMTA1

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
4001ISSMEGESVSQSVFMTORCAMTA1chr111313895chr16880240917

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of MTOR-CAMTA1

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-B14:023BVN4001ISSMEGESVSQSVF-7.15543-7.26883
HLA-B14:023BVN4001ISSMEGESVSQSVF-4.77435-5.80965
HLA-B52:013W394001ISSMEGESVSQSVF-6.80875-6.92215
HLA-B52:013W394001ISSMEGESVSQSVF-4.20386-5.23916
HLA-A11:014UQ24001ISSMEGESVSQSVF-7.5194-8.5547
HLA-A11:014UQ24001ISSMEGESVSQSVF-6.9601-7.0735
HLA-A24:025HGA4001ISSMEGESVSQSVF-7.52403-7.63743
HLA-A24:025HGA4001ISSMEGESVSQSVF-5.82433-6.85963
HLA-B27:056PYJ4001ISSMEGESVSQSVF-3.28285-4.31815
HLA-B44:053DX84001ISSMEGESVSQSVF-5.91172-6.94702
HLA-B44:053DX84001ISSMEGESVSQSVF-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of MTOR-CAMTA1

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
MTOR-CAMTA1chr111313895chr168802401020EGESVSQSVFGAGGGAGAGAGCGTTTCCCAAAGTGTATTC
MTOR-CAMTA1chr111313895chr168802401119GESVSQSVGGAGAGAGCGTTTCCCAAAGTGTA
MTOR-CAMTA1chr111313895chr168802401120GESVSQSVFGGAGAGAGCGTTTCCCAAAGTGTATTC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
MTOR-CAMTA1chr111313895chr16880240015LNELVRISSMEGESVCTTAACGAGCTGGTCCGAATCAGCAGCATGGAGGGAGAGAGCGTT
MTOR-CAMTA1chr111313895chr16880240217ELVRISSMEGESVSQGAGCTGGTCCGAATCAGCAGCATGGAGGGAGAGAGCGTTTCCCAA
MTOR-CAMTA1chr111313895chr16880240318LVRISSMEGESVSQSCTGGTCCGAATCAGCAGCATGGAGGGAGAGAGCGTTTCCCAAAGT
MTOR-CAMTA1chr111313895chr16880240419VRISSMEGESVSQSVGTCCGAATCAGCAGCATGGAGGGAGAGAGCGTTTCCCAAAGTGTA

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Information of the samples that have these potential fusion neoantigens of MTOR-CAMTA1

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
GBMMTOR-CAMTA1chr111313895ENST00000361445chr16880240ENST00000303635TCGA-32-5222

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Potential target of CAR-T therapy development for MTOR-CAMTA1

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 MTOR-CAMTA1

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 MTOR-CAMTA1

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