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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:PBRM1-TMEM110

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PBRM1-TMEM110
FusionPDB ID: 63011
FusionGDB2.0 ID: 63011
HgeneTgene
Gene symbol

PBRM1

TMEM110

Gene ID

55193

375346

Gene namepolybromo 1STIM activating enhancer
SynonymsBAF180|PB1TMEM110
Cytomap

3p21.1

3p21.1

Type of geneprotein-codingprotein-coding
Descriptionprotein polybromo-1BRG1-associated factor 180polybromo-1Dstore-operated calcium entry regulator STIMATESTIM-activating enhancer encoded by TMEM110transmembrane protein 110
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000296302, ENST00000337303, 
ENST00000356770, ENST00000394830, 
ENST00000409057, ENST00000409114, 
ENST00000409767, ENST00000410007, 
ENST00000464769, ENST00000355083, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score15 X 15 X 10=22504 X 2 X 3=24
# samples 194
** MAII scorelog2(19/2250*10)=-3.56585367777345
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Fusion gene context

PubMed: PBRM1 [Title/Abstract] AND TMEM110 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PBRM1 [Title/Abstract] AND TMEM110 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PBRM1(52584437)-TMEM110(52889460), # samples:2
Anticipated loss of major functional domain due to fusion event.PBRM1-TMEM110 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.
PBRM1-TMEM110 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.
PBRM1-TMEM110 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.
PBRM1-TMEM110 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.
PBRM1-TMEM110 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
PBRM1-TMEM110 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
PBRM1-TMEM110 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PBRM1-TMEM110 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PBRM1-TMEM110 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
PBRM1-TMEM110 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
TgeneTMEM110

GO:0032237

activation of store-operated calcium channel activity

26322679|26644574

TgeneTMEM110

GO:0035584

calcium-mediated signaling using intracellular calcium source

26644574

TgeneTMEM110

GO:0070886

positive regulation of calcineurin-NFAT signaling cascade

26644574



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/chr3:52584437/chr3:52889460)
- 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 PBRM1 (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 TMEM110 (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)
ENST00000356770PBRM1chr352584437-ENST00000355083TMEM110chr352889460-91024639353631786
ENST00000296302PBRM1chr352584437-ENST00000355083TMEM110chr352889460-93624899256231873
ENST00000337303PBRM1chr352584437-ENST00000355083TMEM110chr352889460-90424579353031766
ENST00000410007PBRM1chr352584437-ENST00000355083TMEM110chr352889460-91234660353841793
ENST00000409057PBRM1chr352584437-ENST00000355083TMEM110chr352889460-91984735354591818
ENST00000409114PBRM1chr352584437-ENST00000355083TMEM110chr352889460-92524789355131836
ENST00000409767PBRM1chr352584437-ENST00000355083TMEM110chr352889460-90874624353481781

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
ENST00000356770ENST00000355083PBRM1chr352584437-TMEM110chr352889460-0.0002026040.9997974
ENST00000296302ENST00000355083PBRM1chr352584437-TMEM110chr352889460-0.0004289940.999571
ENST00000337303ENST00000355083PBRM1chr352584437-TMEM110chr352889460-0.0002745870.9997254
ENST00000410007ENST00000355083PBRM1chr352584437-TMEM110chr352889460-0.00075430.99924576
ENST00000409057ENST00000355083PBRM1chr352584437-TMEM110chr352889460-0.0002090530.99979097
ENST00000409114ENST00000355083PBRM1chr352584437-TMEM110chr352889460-0.0003688360.99963117
ENST00000409767ENST00000355083PBRM1chr352584437-TMEM110chr352889460-0.0002790820.9997209

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 PBRM1-TMEM110

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PBRM1chr352584437TMEM110chr35288946045791523SAESNSISKWDQTLAVKRFREPKHER
PBRM1chr352584437TMEM110chr35288946046241538SAESNSISKWDQTLAVKRFREPKHER
PBRM1chr352584437TMEM110chr35288946046391543SAESNSISKWDQTLAVKRFREPKHER
PBRM1chr352584437TMEM110chr35288946046601550SAESNSISKWDQTLAVKRFREPKHER
PBRM1chr352584437TMEM110chr35288946047351575SAESNSISKWDQTLAVKRFREPKHER
PBRM1chr352584437TMEM110chr35288946047891593SAESNSISKWDQTLAVKRFREPKHER
PBRM1chr352584437TMEM110chr35288946048991630SAESNSISKWDQTLAVKRFREPKHER

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Potential FusionNeoAntigen Information of PBRM1-TMEM110 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.
PBRM1-TMEM110_52584437_52889460.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)
PBRM1-TMEM110chr352584437chr3528894604899HLA-B39:06SKWDQTLAV0.99750.8437716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B39:24SKWDQTLAV0.99690.7218716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B39:01SKWDQTLAV0.99510.8241716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B39:13SKWDQTLAV0.98930.8754716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B14:01SKWDQTLAV0.96970.8547716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B14:02SKWDQTLAV0.96970.8547716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B18:01DQTLAVKRF0.93250.69431019
PBRM1-TMEM110chr352584437chr3528894604899HLA-B15:10SKWDQTLAV0.77380.5755716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B48:01SKWDQTLAV0.6690.7425716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B15:37SKWDQTLAV0.34740.6982716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B13:02SKWDQTLAV0.32780.9103716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B13:01SISKWDQTL0.09130.78514
PBRM1-TMEM110chr352584437chr3528894604899HLA-B52:01SKWDQTLAV0.04520.9853716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B07:10SKWDQTLAV0.00590.5603716
PBRM1-TMEM110chr352584437chr3528894604899HLA-C04:10KWDQTLAV0.99970.9747816
PBRM1-TMEM110chr352584437chr3528894604899HLA-C04:07KWDQTLAV0.99970.9727816
PBRM1-TMEM110chr352584437chr3528894604899HLA-C04:14KWDQTLAV0.9530.9732816
PBRM1-TMEM110chr352584437chr3528894604899HLA-B39:09SKWDQTLAV0.99590.7654716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B39:12SKWDQTLAV0.99540.8299716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B39:05SKWDQTLAV0.97810.8178716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B73:01SKWDQTLAV0.92190.8536716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B51:07DQTLAVKRF0.53210.80171019
PBRM1-TMEM110chr352584437chr3528894604899HLA-C12:16SKWDQTLAV0.0370.9346716
PBRM1-TMEM110chr352584437chr3528894604899HLA-C04:01KWDQTLAV0.99970.9727816
PBRM1-TMEM110chr352584437chr3528894604899HLA-C18:01KWDQTLAV0.99970.9665816
PBRM1-TMEM110chr352584437chr3528894604899HLA-B39:02SKWDQTLAV0.99660.8697716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B39:31SKWDQTLAV0.99540.8252716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B18:04DQTLAVKRF0.9850.71171019
PBRM1-TMEM110chr352584437chr3528894604899HLA-B18:07DQTLAVKRF0.9590.67971019
PBRM1-TMEM110chr352584437chr3528894604899HLA-B18:06DQTLAVKRF0.94980.69161019
PBRM1-TMEM110chr352584437chr3528894604899HLA-B18:05DQTLAVKRF0.93250.69431019
PBRM1-TMEM110chr352584437chr3528894604899HLA-B18:08DQTLAVKRF0.91810.57481019
PBRM1-TMEM110chr352584437chr3528894604899HLA-B18:03DQTLAVKRF0.89780.68161019
PBRM1-TMEM110chr352584437chr3528894604899HLA-B35:20DQTLAVKRF0.80830.88861019
PBRM1-TMEM110chr352584437chr3528894604899HLA-B15:09SKWDQTLAV0.69330.8221716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B15:73SISKWDQTL0.67840.6568514
PBRM1-TMEM110chr352584437chr3528894604899HLA-B15:30SISKWDQTL0.66180.5663514
PBRM1-TMEM110chr352584437chr3528894604899HLA-C06:08SKWDQTLAV0.64520.9789716
PBRM1-TMEM110chr352584437chr3528894604899HLA-C06:06SKWDQTLAV0.62120.9827716
PBRM1-TMEM110chr352584437chr3528894604899HLA-B15:13DQTLAVKRF0.59620.6391019
PBRM1-TMEM110chr352584437chr3528894604899HLA-B35:13SISKWDQTL0.41270.6429514
PBRM1-TMEM110chr352584437chr3528894604899HLA-C06:17SKWDQTLAV0.18740.9815716
PBRM1-TMEM110chr352584437chr3528894604899HLA-C06:02SKWDQTLAV0.18740.9815716

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Potential FusionNeoAntigen Information of PBRM1-TMEM110 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.

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)

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Fusion breakpoint peptide structures of PBRM1-TMEM110

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
3994ISKWDQTLAVKRFRPBRM1TMEM110chr352584437chr3528894604899

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PBRM1-TMEM110

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-B14:023BVN3994ISKWDQTLAVKRFR-7.15543-7.26883
HLA-B14:023BVN3994ISKWDQTLAVKRFR-4.77435-5.80965
HLA-B52:013W393994ISKWDQTLAVKRFR-6.80875-6.92215
HLA-B52:013W393994ISKWDQTLAVKRFR-4.20386-5.23916
HLA-A11:014UQ23994ISKWDQTLAVKRFR-7.5194-8.5547
HLA-A11:014UQ23994ISKWDQTLAVKRFR-6.9601-7.0735
HLA-A24:025HGA3994ISKWDQTLAVKRFR-7.52403-7.63743
HLA-A24:025HGA3994ISKWDQTLAVKRFR-5.82433-6.85963
HLA-B27:056PYJ3994ISKWDQTLAVKRFR-3.28285-4.31815
HLA-B44:053DX83994ISKWDQTLAVKRFR-5.91172-6.94702
HLA-B44:053DX83994ISKWDQTLAVKRFR-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of PBRM1-TMEM110

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
PBRM1-TMEM110chr352584437chr3528894601019DQTLAVKRFCACTGGCAGTCAAACGCTTCAGAGAAC
PBRM1-TMEM110chr352584437chr352889460514SISKWDQTLGCAAGTGGGATCAGACACTGGCAGTCA
PBRM1-TMEM110chr352584437chr352889460716SKWDQTLAVGGGATCAGACACTGGCAGTCAAACGCT
PBRM1-TMEM110chr352584437chr352889460816KWDQTLAVATCAGACACTGGCAGTCAAACGCT

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

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Information of the samples that have these potential fusion neoantigens of PBRM1-TMEM110

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
LUADPBRM1-TMEM110chr352584437ENST00000296302chr352889460ENST00000355083TCGA-55-8085-01A

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Potential target of CAR-T therapy development for PBRM1-TMEM110

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
TgeneTMEM110chr3:52584437chr3:52889460ENST0000035508308102_1220295.0TransmembraneHelical
TgeneTMEM110chr3:52584437chr3:52889460ENST0000035508308156_1760295.0TransmembraneHelical
TgeneTMEM110chr3:52584437chr3:52889460ENST0000035508308194_2140295.0TransmembraneHelical
TgeneTMEM110chr3:52584437chr3:52889460ENST000003550830869_890295.0TransmembraneHelical

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 PBRM1-TMEM110

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 PBRM1-TMEM110

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