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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:BMPR2-PARD3B

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BMPR2-PARD3B
FusionPDB ID: 9936
FusionGDB2.0 ID: 9936
HgeneTgene
Gene symbol

BMPR2

PARD3B

Gene ID

659

117583

Gene namebone morphogenetic protein receptor type 2par-3 family cell polarity regulator beta
SynonymsBMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALKALS2CR19|PAR3B|PAR3L|PAR3beta
Cytomap

2q33.1-q33.2

2q33.3

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein receptor type-2BMP type II receptorBMP type-2 receptorbone morphogenetic protein receptor type IIbone morphogenetic protein receptor, type II (serine/threonine kinase)type II activin receptor-like kinasetype II receptor fopartitioning defective 3 homolog BPAR3-L proteinamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 proteinpar-3 partitioning defective 3 homolog Bpartitioning
Modification date2020031320200313
UniProtAcc

Q13873

Main function of 5'-partner protein: FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6. {ECO:0000250|UniProtKB:O35607}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000374574, ENST00000374580, 
ENST00000479069, 
ENST00000488622, 
ENST00000349953, ENST00000351153, 
ENST00000358768, ENST00000406610, 
ENST00000462231, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score20 X 12 X 9=216017 X 20 X 10=3400
# samples 2123
** MAII scorelog2(21/2160*10)=-3.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(23/3400*10)=-3.88582898008069
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: BMPR2 [Title/Abstract] AND PARD3B [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: BMPR2 [Title/Abstract] AND PARD3B [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BMPR2(203242273)-PARD3B(206110501), # samples:1
Anticipated loss of major functional domain due to fusion event.BMPR2-PARD3B 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.
BMPR2-PARD3B 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.
BMPR2-PARD3B 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.
BMPR2-PARD3B 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
HgeneBMPR2

GO:0007178

transmembrane receptor protein serine/threonine kinase signaling pathway

12045205

HgeneBMPR2

GO:0010634

positive regulation of epithelial cell migration

12819188

HgeneBMPR2

GO:0030308

negative regulation of cell growth

12819188

HgeneBMPR2

GO:0030509

BMP signaling pathway

18436533



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/chr2:203242273/chr2:206110501)
- 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 BMPR2 (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 PARD3B (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)
ENST00000374580BMPR2chr2203242273+ENST00000406610PARD3Bchr2206110501+64426155242092522
ENST00000374580BMPR2chr2203242273+ENST00000462231PARD3Bchr2206110501+12836155241282253
ENST00000374580BMPR2chr2203242273+ENST00000349953PARD3Bchr2206110501+17906155241789422
ENST00000374580BMPR2chr2203242273+ENST00000358768PARD3Bchr2206110501+20936155242092523
ENST00000374580BMPR2chr2203242273+ENST00000351153PARD3Bchr2206110501+18866155241885454
ENST00000374574BMPR2chr2203242273+ENST00000406610PARD3Bchr2206110501+5944117261594522
ENST00000374574BMPR2chr2203242273+ENST00000462231PARD3Bchr2206110501+78511726784253
ENST00000374574BMPR2chr2203242273+ENST00000349953PARD3Bchr2206110501+1292117261291422
ENST00000374574BMPR2chr2203242273+ENST00000358768PARD3Bchr2206110501+1595117261594523
ENST00000374574BMPR2chr2203242273+ENST00000351153PARD3Bchr2206110501+1388117261387454

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
ENST00000374580ENST00000406610BMPR2chr2203242273+PARD3Bchr2206110501+0.0015699860.99842995
ENST00000374580ENST00000462231BMPR2chr2203242273+PARD3Bchr2206110501+0.008935270.9910648
ENST00000374580ENST00000349953BMPR2chr2203242273+PARD3Bchr2206110501+0.022890320.97710973
ENST00000374580ENST00000358768BMPR2chr2203242273+PARD3Bchr2206110501+0.0204749310.9795251
ENST00000374580ENST00000351153BMPR2chr2203242273+PARD3Bchr2206110501+0.0106221490.9893778
ENST00000374574ENST00000406610BMPR2chr2203242273+PARD3Bchr2206110501+0.001377610.9986224
ENST00000374574ENST00000462231BMPR2chr2203242273+PARD3Bchr2206110501+0.0065876770.9934123
ENST00000374574ENST00000349953BMPR2chr2203242273+PARD3Bchr2206110501+0.028298030.971702
ENST00000374574ENST00000358768BMPR2chr2203242273+PARD3Bchr2206110501+0.0230972490.9769027
ENST00000374574ENST00000351153BMPR2chr2203242273+PARD3Bchr2206110501+0.0127263330.9872737

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 BMPR2-PARD3B

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
BMPR2chr2203242273PARD3Bchr220611050111730WLPWTILLVSTAAVPDESKVHSLAGQ
BMPR2chr2203242273PARD3Bchr220611050161530WLPWTILLVSTAAVPDESKVHSLAGQ

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Potential FusionNeoAntigen Information of BMPR2-PARD3B 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.
BMPR2-PARD3B_203242273_206110501.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)
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:13ILLVSTAAV0.9880.6386514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:11ILLVSTAAV0.98310.6174514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:27ILLVSTAAV0.98250.613514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:67ILLVSTAAV0.98220.5885514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:30ILLVSTAAV0.98220.5885514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:24ILLVSTAAV0.98220.5885514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:60ILLVSTAAV0.98160.5921514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:29ILLVSTAAV0.9640.5962514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:19ILLVSTAAV0.96340.6646514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:38ILLVSTAAV0.95530.5202514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:35ILLVSTAAV0.9510.6016514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:04ILLVSTAAV0.92570.7959514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:01ILLVSTAAV0.98220.5885514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-C02:06AAVPDESKV0.57670.95681120
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-C01:17AVPDESKVHSL0.99990.94151223
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-C01:30AVPDESKVHSL0.99990.93671223
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-B39:10AVPDESKVHSL0.98780.85231223
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:07AVPDESKVHSL0.83050.55791223
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-A02:03ILLVSTAAV0.9950.6772514
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-C03:06AAVPDESKV0.93270.98861120
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-C01:03AVPDESKVHSL10.92261223
BMPR2-PARD3Bchr2203242273chr2206110501117HLA-C01:02AVPDESKVHSL0.99990.93791223

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Potential FusionNeoAntigen Information of BMPR2-PARD3B 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.
BMPR2-PARD3B_203242273_206110501.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)
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-0411TILLVSTAAVPDESK419
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-0417TILLVSTAAVPDESK419
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-0469PWTILLVSTAAVPDE217
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-0478PWTILLVSTAAVPDE217
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-0491TILLVSTAAVPDESK419
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-0706TILLVSTAAVPDESK419
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-0908TILLVSTAAVPDESK419
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-1410PWTILLVSTAAVPDE217
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-1410LPWTILLVSTAAVPD116
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-1410WTILLVSTAAVPDES318
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-1410TILLVSTAAVPDESK419
BMPR2-PARD3Bchr2203242273chr2206110501117DRB1-1439PWTILLVSTAAVPDE217

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Fusion breakpoint peptide structures of BMPR2-PARD3B

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
5288LLVSTAAVPDESKVBMPR2PARD3Bchr2203242273chr2206110501117

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of BMPR2-PARD3B

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-B14:023BVN5288LLVSTAAVPDESKV-7.29174-7.40514
HLA-B14:023BVN5288LLVSTAAVPDESKV-4.74919-5.78449
HLA-B52:013W395288LLVSTAAVPDESKV-5.07451-5.18791
HLA-B52:013W395288LLVSTAAVPDESKV-2.86294-3.89824
HLA-A11:014UQ25288LLVSTAAVPDESKV-4.62205-5.65735
HLA-A24:025HGA5288LLVSTAAVPDESKV-11.701-11.8144
HLA-A24:025HGA5288LLVSTAAVPDESKV-4.6967-5.732
HLA-B44:053DX85288LLVSTAAVPDESKV-5.76162-5.87502
HLA-B44:053DX85288LLVSTAAVPDESKV-3.98447-5.01977
HLA-A02:016TDR5288LLVSTAAVPDESKV-2.29826-3.33356

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Vaccine Design for the FusionNeoAntigens of BMPR2-PARD3B

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
BMPR2-PARD3Bchr2203242273chr22061105011120AAVPDESKVCGGCTGTGCCAGATGAAAGCAAGGTTC
BMPR2-PARD3Bchr2203242273chr22061105011223AVPDESKVHSLCTGTGCCAGATGAAAGCAAGGTTCACTCATTGG
BMPR2-PARD3Bchr2203242273chr2206110501514ILLVSTAAVTCCTGCTGGTCAGCACTGCGGCTGTGC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
BMPR2-PARD3Bchr2203242273chr2206110501116LPWTILLVSTAAVPDTACCATGGACCATCCTGCTGGTCAGCACTGCGGCTGTGCCAGATG
BMPR2-PARD3Bchr2203242273chr2206110501217PWTILLVSTAAVPDECATGGACCATCCTGCTGGTCAGCACTGCGGCTGTGCCAGATGAAA
BMPR2-PARD3Bchr2203242273chr2206110501318WTILLVSTAAVPDESGGACCATCCTGCTGGTCAGCACTGCGGCTGTGCCAGATGAAAGCA
BMPR2-PARD3Bchr2203242273chr2206110501419TILLVSTAAVPDESKCCATCCTGCTGGTCAGCACTGCGGCTGTGCCAGATGAAAGCAAGG

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Information of the samples that have these potential fusion neoantigens of BMPR2-PARD3B

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
ESCABMPR2-PARD3Bchr2203242273ENST00000374574chr2206110501ENST00000349953TCGA-JY-A6FH

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Potential target of CAR-T therapy development for BMPR2-PARD3B

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 BMPR2-PARD3B

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 BMPR2-PARD3B

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