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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:P4HB-SLC29A2

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: P4HB-SLC29A2
FusionPDB ID: 62151
FusionGDB2.0 ID: 62151
HgeneTgene
Gene symbol

P4HB

SLC29A2

Gene ID

5034

3177

Gene nameprolyl 4-hydroxylase subunit betasolute carrier family 29 member 2
SynonymsCLCRP1|DSI|ERBA2L|GIT|P4Hbeta|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHBDER12|ENT2|HNP36
Cytomap

17q25.3

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein disulfide-isomerasecellular thyroid hormone-binding proteincollagen prolyl 4-hydroxylase betaglutathione-insulin transhydrogenasep55procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptideprolyl 4-hydroxylaequilibrative nucleoside transporter 236 kDa nucleolar protein HNP36delayed-early response protein 12equilibrative NBMPR-insensitive nucleoside transporterequilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporterhydrophobic
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000331483, ENST00000439918, 
ENST00000472244, ENST00000576390, 
ENST00000311161, ENST00000357440, 
ENST00000544554, ENST00000546034, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score34 X 19 X 17=109821 X 1 X 1=1
# samples 371
** MAII scorelog2(37/10982*10)=-4.89147173542795
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Fusion gene context

PubMed: P4HB [Title/Abstract] AND SLC29A2 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: P4HB [Title/Abstract] AND SLC29A2 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)P4HB(79817057)-SLC29A2(66131895), # samples:1
Anticipated loss of major functional domain due to fusion event.P4HB-SLC29A2 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.
P4HB-SLC29A2 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.
P4HB-SLC29A2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
P4HB-SLC29A2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
P4HB-SLC29A2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
P4HB-SLC29A2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneP4HB

GO:0018401

peptidyl-proline hydroxylation to 4-hydroxy-L-proline

7753822

TgeneSLC29A2

GO:0015858

nucleoside transport

12527552



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/chr17:79817057/chr11:66131895)
- 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 P4HB (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 SLC29A2 (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)
ENST00000439918P4HBchr1779817057-ENST00000357440SLC29A2chr1166131895-166944389754221
ENST00000439918P4HBchr1779817057-ENST00000544554SLC29A2chr1166131895-166944389754221
ENST00000439918P4HBchr1779817057-ENST00000546034SLC29A2chr1166131895-16684438172272

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
ENST00000439918ENST00000357440P4HBchr1779817057-SLC29A2chr1166131895-0.0051031390.9948968
ENST00000439918ENST00000544554P4HBchr1779817057-SLC29A2chr1166131895-0.0051031390.9948968
ENST00000439918ENST00000546034P4HBchr1779817057-SLC29A2chr1166131895-0.0050813440.99491864

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 P4HB-SLC29A2

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
P4HBchr1779817057SLC29A2chr1166131895443118RNGDTASPKEYTGPDEDSRLLPLLVC

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Potential FusionNeoAntigen Information of P4HB-SLC29A2 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.
P4HB-SLC29A2_79817057_66131895.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)
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:08GPDEDSRLL0.73110.87161221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:03GPDEDSRLL0.66950.91011221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:04GPDEDSRLL0.33870.95891221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:02GPDEDSRLL0.33870.95891221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:03TGPDEDSRLL0.74240.89681121
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:04TGPDEDSRLL0.59290.95521121
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:02TGPDEDSRLL0.59290.95521121
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:08YTGPDEDSRLL0.99640.83431021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:03YTGPDEDSRLL0.99260.8511021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:02YTGPDEDSRLL0.97950.93631021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:04YTGPDEDSRLL0.97950.93631021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C05:09GPDEDSRLL0.99890.94711221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C04:10GPDEDSRLL0.99880.90731221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C04:07GPDEDSRLL0.99870.9221221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C08:15GPDEDSRLL0.99480.98071221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C01:17TGPDEDSRL0.99130.97791120
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C01:30TGPDEDSRL0.91690.97711120
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B07:12GPDEDSRLL0.87490.53651221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B39:08GPDEDSRLL0.4450.93741221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:12GPDEDSRLL0.33870.95891221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B39:09GPDEDSRLL0.33450.60141221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B39:10GPDEDSRLL0.26010.91691221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B42:01GPDEDSRLL0.06040.51431221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B39:10TGPDEDSRLL0.66030.92611121
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:12TGPDEDSRLL0.59290.95521121
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C04:10YTGPDEDSRLL10.92031021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C04:07YTGPDEDSRLL10.91481021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C08:15YTGPDEDSRLL10.9811021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C05:09YTGPDEDSRLL10.92881021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C08:03YTGPDEDSRLL0.99370.98441021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:12YTGPDEDSRLL0.97950.93631021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B39:10YTGPDEDSRLL0.96080.90191021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C05:01GPDEDSRLL0.99890.94711221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C04:03GPDEDSRLL0.99880.92991221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C04:01GPDEDSRLL0.99870.9221221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C18:01GPDEDSRLL0.99770.91631221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C01:03TGPDEDSRL0.99590.97011120
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C08:02GPDEDSRLL0.99480.98071221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C01:02TGPDEDSRL0.99190.97681120
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:13GPDEDSRLL0.60430.91371221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B39:11GPDEDSRLL0.44940.88511221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:09GPDEDSRLL0.33870.95891221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B67:01GPDEDSRLL0.29570.72421221
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C01:02YTGPDEDSRL0.99660.94971020
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B67:01TGPDEDSRLL0.64630.78291121
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:09TGPDEDSRLL0.59290.95521121
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C04:01YTGPDEDSRLL10.91481021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C05:01YTGPDEDSRLL10.92881021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C04:03YTGPDEDSRLL10.91981021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C08:02YTGPDEDSRLL10.9811021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-C08:01YTGPDEDSRLL0.99370.98441021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:13YTGPDEDSRLL0.99060.85891021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B35:09YTGPDEDSRLL0.97950.93631021
P4HB-SLC29A2chr1779817057chr1166131895443HLA-B67:01YTGPDEDSRLL0.97770.85551021

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Potential FusionNeoAntigen Information of P4HB-SLC29A2 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 P4HB-SLC29A2

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
8884SPKEYTGPDEDSRLP4HBSLC29A2chr1779817057chr1166131895443

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of P4HB-SLC29A2

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-B14:023BVN8884SPKEYTGPDEDSRL-5.58101-5.58821
HLA-B52:013W398884SPKEYTGPDEDSRL-5.95979-5.96699
HLA-A11:014UQ28884SPKEYTGPDEDSRL-8.9258-8.933
HLA-A24:025HGA8884SPKEYTGPDEDSRL-5.25768-5.26488
HLA-B27:056PYJ8884SPKEYTGPDEDSRL-6.40093-6.40813
HLA-B44:053DX88884SPKEYTGPDEDSRL-3.5847-3.5919
HLA-A02:016TDR8884SPKEYTGPDEDSRL-4.68764-4.69484

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Vaccine Design for the FusionNeoAntigens of P4HB-SLC29A2

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
P4HB-SLC29A2chr1779817057chr11661318951020YTGPDEDSRLTATACAGGTCCAGACGAGGACAGCCGGCTG
P4HB-SLC29A2chr1779817057chr11661318951021YTGPDEDSRLLTATACAGGTCCAGACGAGGACAGCCGGCTGCTG
P4HB-SLC29A2chr1779817057chr11661318951120TGPDEDSRLACAGGTCCAGACGAGGACAGCCGGCTG
P4HB-SLC29A2chr1779817057chr11661318951121TGPDEDSRLLACAGGTCCAGACGAGGACAGCCGGCTGCTG
P4HB-SLC29A2chr1779817057chr11661318951221GPDEDSRLLGGTCCAGACGAGGACAGCCGGCTGCTG

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 P4HB-SLC29A2

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
STADP4HB-SLC29A2chr1779817057ENST00000439918chr1166131895ENST00000357440TCGA-CD-8534-01A

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Potential target of CAR-T therapy development for P4HB-SLC29A2

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
TgeneSLC29A2chr17:79817057chr11:66131895ENST00000357440912360_3800457.0TransmembraneHelical
TgeneSLC29A2chr17:79817057chr11:66131895ENST00000357440912386_4060457.0TransmembraneHelical
TgeneSLC29A2chr17:79817057chr11:66131895ENST00000357440912432_4520457.0TransmembraneHelical
TgeneSLC29A2chr17:79817057chr11:66131895ENST000005445541013360_3800457.0TransmembraneHelical
TgeneSLC29A2chr17:79817057chr11:66131895ENST000005445541013386_4060457.0TransmembraneHelical
TgeneSLC29A2chr17:79817057chr11:66131895ENST000005445541013432_4520457.0TransmembraneHelical
TgeneSLC29A2chr17:79817057chr11:66131895ENST000005460341013360_3800457.0TransmembraneHelical
TgeneSLC29A2chr17:79817057chr11:66131895ENST000005460341013386_4060457.0TransmembraneHelical
TgeneSLC29A2chr17:79817057chr11:66131895ENST000005460341013432_4520457.0TransmembraneHelical

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 P4HB-SLC29A2

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 P4HB-SLC29A2

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