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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:PDSS2-LMBRD1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PDSS2-LMBRD1
FusionPDB ID: 64083
FusionGDB2.0 ID: 64083
HgeneTgene
Gene symbol

PDSS2

LMBRD1

Gene ID

57107

55788

Gene namedecaprenyl diphosphate synthase subunit 2LMBR1 domain containing 1
SynonymsC6orf210|COQ10D3|COQ1B|DLP1|bA59I9.3|hDLP1C6orf209|LMBD1|MAHCF|NESI
Cytomap

6q21

6q13

Type of geneprotein-codingprotein-coding
Descriptiondecaprenyl-diphosphate synthase subunit 2all-trans-decaprenyl-diphosphate synthase subunit 2decaprenyl pyrophosphate synthase subunit 2decaprenyl pyrophosphate synthetase subunit 2prenyl (decaprenyl) diphosphate synthase, subunit 2subunit 2 of decaprprobable lysosomal cobalamin transporterHDAg-L-interacting protein NESIhepatitis delta antigen-L interacting proteinliver regeneration p-53 related proteinnuclear export signal-interacting protein
Modification date2020031320200313
UniProtAcc.

Q9NUN5

Main function of 5'-partner protein: FUNCTION: Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors (PubMed:19136951). Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome (PubMed:27456980). Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791). {ECO:0000269|PubMed:19136951, ECO:0000269|PubMed:27456980, ECO:0000303|PubMed:25535791}.; FUNCTION: [Isoform 3]: (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV). {ECO:0000269|PubMed:15956556}.
Ensembl transtripts involved in fusion geneENST idsENST00000369031, ENST00000369037, 
ENST00000453874, 
ENST00000370570, 
ENST00000370577, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 8 X 6=52811 X 9 X 6=594
# samples 1312
** MAII scorelog2(13/528*10)=-2.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: PDSS2 [Title/Abstract] AND LMBRD1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: PDSS2 [Title/Abstract] AND LMBRD1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PDSS2(107595233)-LMBRD1(70428973), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgenePDSS2

GO:0006744

ubiquinone biosynthetic process

16262699

HgenePDSS2

GO:0008299

isoprenoid biosynthetic process

16262699



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/chr6:107595233/chr6:70428973)
- 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 PDSS2 (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 LMBRD1 (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)
ENST00000369037PDSS2chr6107595233-ENST00000370577LMBRD1chr670428973-22519082091894561
ENST00000369037PDSS2chr6107595233-ENST00000370570LMBRD1chr670428973-22479082091894561
ENST00000453874PDSS2chr6107595233-ENST00000370577LMBRD1chr670428973-22449012021887561
ENST00000453874PDSS2chr6107595233-ENST00000370570LMBRD1chr670428973-22409012021887561
ENST00000369031PDSS2chr6107595233-ENST00000370577LMBRD1chr670428973-22529092101895561
ENST00000369031PDSS2chr6107595233-ENST00000370570LMBRD1chr670428973-22489092101895561

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
ENST00000369037ENST00000370577PDSS2chr6107595233-LMBRD1chr670428973-0.0015049620.998495
ENST00000369037ENST00000370570PDSS2chr6107595233-LMBRD1chr670428973-0.0015484060.9984516
ENST00000453874ENST00000370577PDSS2chr6107595233-LMBRD1chr670428973-0.0014691460.99853086
ENST00000453874ENST00000370570PDSS2chr6107595233-LMBRD1chr670428973-0.0015148930.99848515
ENST00000369031ENST00000370577PDSS2chr6107595233-LMBRD1chr670428973-0.0015328190.99846715
ENST00000369031ENST00000370570PDSS2chr6107595233-LMBRD1chr670428973-0.0015771540.99842286

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 PDSS2-LMBRD1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
PDSS2chr6107595233LMBRD1chr670428973901233NACNGLALLQNTKAYGMSALPLNLIK
PDSS2chr6107595233LMBRD1chr670428973908233NACNGLALLQNTKAYGMSALPLNLIK
PDSS2chr6107595233LMBRD1chr670428973909233NACNGLALLQNTKAYGMSALPLNLIK

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Potential FusionNeoAntigen Information of PDSS2-LMBRD1 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.
PDSS2-LMBRD1_107595233_70428973.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)
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B39:24TKAYGMSAL0.99780.76191120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:01ALLQNTKAY0.99780.89615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B39:01TKAYGMSAL0.99680.91741120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B14:02TKAYGMSAL0.98680.8881120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B14:01TKAYGMSAL0.98680.8881120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:25ALLQNTKAY0.96550.9223615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:10TKAYGMSAL0.92480.69671120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:02ALLQNTKAY0.92160.9355615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:37TKAYGMSAL0.49910.6391120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:03ALLQNTKAY0.48180.805615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-C03:19KAYGMSAL0.99980.99371220
PDSS2-LMBRD1chr6107595233chr670428973909HLA-C03:08KAYGMSAL0.99970.9171220
PDSS2-LMBRD1chr6107595233chr670428973909HLA-C12:12KAYGMSAL0.99930.96671220
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B39:09TKAYGMSAL0.99670.85181120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B39:05TKAYGMSAL0.99140.90931120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:07ALLQNTKAY0.98920.7001615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:21ALLQNTKAY0.91890.9244615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:04ALLQNTKAY0.75810.8895615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:05ALLQNTKAY0.64510.8745615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:31ALLQNTKAY0.50680.8807615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B14:03TKAYGMSAL0.45960.85621120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B44:08ALLQNTKAY0.07530.5009615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-C03:17KAYGMSAL0.99970.97581220
PDSS2-LMBRD1chr6107595233chr670428973909HLA-C03:04KAYGMSAL0.99970.99281220
PDSS2-LMBRD1chr6107595233chr670428973909HLA-C03:03KAYGMSAL0.99970.99281220
PDSS2-LMBRD1chr6107595233chr670428973909HLA-C03:05KAYGMSAL0.99960.94811220
PDSS2-LMBRD1chr6107595233chr670428973909HLA-C16:01KAYGMSAL0.99620.97881220
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B07:13KAYGMSAL0.98570.8381220
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:125ALLQNTKAY0.99780.89615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:34ALLQNTKAY0.99780.89615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:33ALLQNTKAY0.99780.89615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:27ALLQNTKAY0.99780.8832615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:50ALLQNTKAY0.99760.9195615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:135ALLQNTKAY0.99760.8826615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B39:31TKAYGMSAL0.99680.9171120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:12ALLQNTKAY0.99570.8524615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:35ALLQNTKAY0.99260.8744615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:24ALLQNTKAY0.98960.8896615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:39ALLQNTKAY0.96540.8585615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:53ALLQNTKAY0.90720.8761615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:09TKAYGMSAL0.89170.90581120
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:54ALLQNTKAY0.79090.8505615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:73LQNTKAYGM0.78850.8343817
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:20ALLQNTKAY0.66830.9121615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B35:28ALLQNTKAY0.56860.9102615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B35:20ALLQNTKAY0.46890.9159615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B15:68ALLQNTKAY0.28220.6139615
PDSS2-LMBRD1chr6107595233chr670428973909HLA-B48:02ALLQNTKAY0.09130.897615

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Potential FusionNeoAntigen Information of PDSS2-LMBRD1 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 PDSS2-LMBRD1

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
387ALLQNTKAYGMSALPDSS2LMBRD1chr6107595233chr670428973909

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of PDSS2-LMBRD1

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-B14:023BVN387ALLQNTKAYGMSAL-7.9962-8.1096
HLA-B14:023BVN387ALLQNTKAYGMSAL-5.70842-6.74372
HLA-B52:013W39387ALLQNTKAYGMSAL-6.83737-6.95077
HLA-B52:013W39387ALLQNTKAYGMSAL-4.4836-5.5189
HLA-A11:014UQ2387ALLQNTKAYGMSAL-10.0067-10.1201
HLA-A11:014UQ2387ALLQNTKAYGMSAL-9.03915-10.0745
HLA-A24:025HGA387ALLQNTKAYGMSAL-6.56204-6.67544
HLA-A24:025HGA387ALLQNTKAYGMSAL-5.42271-6.45801
HLA-B44:053DX8387ALLQNTKAYGMSAL-7.85648-8.89178
HLA-B44:053DX8387ALLQNTKAYGMSAL-5.3978-5.5112
HLA-A02:016TDR387ALLQNTKAYGMSAL-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of PDSS2-LMBRD1

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
PDSS2-LMBRD1chr6107595233chr6704289731120TKAYGMSALACCAAGGCCTATGGCATGTCTGCGTTA
PDSS2-LMBRD1chr6107595233chr6704289731220KAYGMSALAAGGCCTATGGCATGTCTGCGTTA
PDSS2-LMBRD1chr6107595233chr670428973615ALLQNTKAYGCTCTGCTACAGAACACCAAGGCCTAT
PDSS2-LMBRD1chr6107595233chr670428973817LQNTKAYGMCTACAGAACACCAAGGCCTATGGCATG

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 PDSS2-LMBRD1

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
BRCAPDSS2-LMBRD1chr6107595233ENST00000369031chr670428973ENST00000370570TCGA-E9-A229-01A

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Potential target of CAR-T therapy development for PDSS2-LMBRD1

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
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515145_1650468.0TransmembraneHelical%3B Name%3D4
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515189_2090468.0TransmembraneHelical%3B Name%3D5
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515306_3260468.0TransmembraneHelical%3B Name%3D6
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515365_3850468.0TransmembraneHelical%3B Name%3D7
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515409_4290468.0TransmembraneHelical%3B Name%3D8
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515487_5070468.0TransmembraneHelical%3B Name%3D9
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616306_3260541.0TransmembraneHelical%3B Name%3D6
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616365_3850541.0TransmembraneHelical%3B Name%3D7
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616409_4290541.0TransmembraneHelical%3B Name%3D8
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616487_5070541.0TransmembraneHelical%3B Name%3D9

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 PDSS2-LMBRD1

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 PDSS2-LMBRD1

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