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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:CAPN1-PFDN5

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CAPN1-PFDN5
FusionPDB ID: 12866
FusionGDB2.0 ID: 12866
HgeneTgene
Gene symbol

CAPN1

PFDN5

Gene ID

823

5204

Gene namecalpain 1prefoldin subunit 5
SynonymsCANP|CANP1|CANPL1|SPG76|muCANP|muCLMM-1|MM1|PFD5
Cytomap

11q13.1

12q13.13

Type of geneprotein-codingprotein-coding
Descriptioncalpain-1 catalytic subunitCANP 1calcium-activated neutral proteinase 1calpain 1, (mu/I) large subunitcalpain mu-typecalpain, large polypeptide L1calpain-1 large subunitcell proliferation-inducing gene 30 proteincell proliferation-inducing proteinprefoldin subunit 5c-myc binding proteinmyc modulator-1
Modification date2020032220200313
UniProtAcc

O75808

Main function of 5'-partner protein:
.
Ensembl transtripts involved in fusion geneENST idsENST00000279247, ENST00000524773, 
ENST00000527323, ENST00000533129, 
ENST00000533820, ENST00000527469, 
ENST00000334478, ENST00000550846, 
ENST00000351500, ENST00000551018, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 11 X 8=11447 X 6 X 3=126
# samples 138
** MAII scorelog2(13/1144*10)=-3.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: CAPN1 [Title/Abstract] AND PFDN5 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: CAPN1 [Title/Abstract] AND PFDN5 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CAPN1(64976858)-PFDN5(53691634), # samples:1
Anticipated loss of major functional domain due to fusion event.CAPN1-PFDN5 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.
CAPN1-PFDN5 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.
CAPN1-PFDN5 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.
CAPN1-PFDN5 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
HgeneCAPN1

GO:0006508

proteolysis

2400579|2407243|16411745|21531719

HgeneCAPN1

GO:0050790

regulation of catalytic activity

8954105|9271093

HgeneCAPN1

GO:0097264

self proteolysis

8769305|8954105



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/chr11:64976858/chr12:53691634)
- 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 CAPN1 (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 PFDN5 (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)
ENST00000533820CAPN1chr1164976858+ENST00000551018PFDN5chr1253691634+237520121672269700
ENST00000533820CAPN1chr1164976858+ENST00000351500PFDN5chr1253691634+237520121672269700
ENST00000533129CAPN1chr1164976858+ENST00000551018PFDN5chr1253691634+22321869752126683
ENST00000533129CAPN1chr1164976858+ENST00000351500PFDN5chr1253691634+22321869752126683
ENST00000524773CAPN1chr1164976858+ENST00000551018PFDN5chr1253691634+225718941002151683
ENST00000524773CAPN1chr1164976858+ENST00000351500PFDN5chr1253691634+225718941002151683
ENST00000279247CAPN1chr1164976858+ENST00000551018PFDN5chr1253691634+230019371432194683
ENST00000279247CAPN1chr1164976858+ENST00000351500PFDN5chr1253691634+230019371432194683
ENST00000527323CAPN1chr1164976858+ENST00000551018PFDN5chr1253691634+239720342072291694
ENST00000527323CAPN1chr1164976858+ENST00000351500PFDN5chr1253691634+239720342072291694

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
ENST00000533820ENST00000551018CAPN1chr1164976858+PFDN5chr1253691634+0.014819330.98518074
ENST00000533820ENST00000351500CAPN1chr1164976858+PFDN5chr1253691634+0.014819330.98518074
ENST00000533129ENST00000551018CAPN1chr1164976858+PFDN5chr1253691634+0.0141504180.9858496
ENST00000533129ENST00000351500CAPN1chr1164976858+PFDN5chr1253691634+0.0141504180.9858496
ENST00000524773ENST00000551018CAPN1chr1164976858+PFDN5chr1253691634+0.0137628760.98623717
ENST00000524773ENST00000351500CAPN1chr1164976858+PFDN5chr1253691634+0.0137628760.98623717
ENST00000279247ENST00000551018CAPN1chr1164976858+PFDN5chr1253691634+0.0139488950.98605114
ENST00000279247ENST00000351500CAPN1chr1164976858+PFDN5chr1253691634+0.0139488950.98605114
ENST00000527323ENST00000551018CAPN1chr1164976858+PFDN5chr1253691634+0.0137047780.9862953
ENST00000527323ENST00000351500CAPN1chr1164976858+PFDN5chr1253691634+0.0137047780.9862953

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 CAPN1-PFDN5

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
CAPN1chr1164976858PFDN5chr12536916341869598SLESCRSMVNLMDMYVPGKLHDVEHV
CAPN1chr1164976858PFDN5chr12536916341894598SLESCRSMVNLMDMYVPGKLHDVEHV
CAPN1chr1164976858PFDN5chr12536916341937598SLESCRSMVNLMDMYVPGKLHDVEHV
CAPN1chr1164976858PFDN5chr12536916342012615SLESCRSMVNLMDMYVPGKLHDVEHV
CAPN1chr1164976858PFDN5chr12536916342034609SLESCRSMVNLMDMYVPGKLHDVEHV

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Potential FusionNeoAntigen Information of CAPN1-PFDN5 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.
CAPN1-PFDN5_64976858_53691634.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)
CAPN1-PFDN5chr1164976858chr12536916341937HLA-B15:25SMVNLMDMY0.99390.7976615
CAPN1-PFDN5chr1164976858chr12536916341937HLA-B15:02SMVNLMDMY0.98540.8359615
CAPN1-PFDN5chr1164976858chr12536916341937HLA-B51:07DMYVPGKL0.99860.81471220
CAPN1-PFDN5chr1164976858chr12536916341937HLA-B15:05SMVNLMDMY0.98010.6764615
CAPN1-PFDN5chr1164976858chr12536916341937HLA-B15:31SMVNLMDMY0.94890.6905615
CAPN1-PFDN5chr1164976858chr12536916341937HLA-B15:27SMVNLMDMY0.99480.809615
CAPN1-PFDN5chr1164976858chr12536916341937HLA-B15:135SMVNLMDMY0.99210.7935615
CAPN1-PFDN5chr1164976858chr12536916341937HLA-A69:01MVNLMDMYV0.98970.6613716
CAPN1-PFDN5chr1164976858chr12536916341937HLA-B15:20SMVNLMDMY0.97980.7892615
CAPN1-PFDN5chr1164976858chr12536916341937HLA-B35:28SMVNLMDMY0.96890.837615

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Potential FusionNeoAntigen Information of CAPN1-PFDN5 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 CAPN1-PFDN5

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
8837SMVNLMDMYVPGKLCAPN1PFDN5chr1164976858chr12536916341937

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CAPN1-PFDN5

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-B14:023BVN8837SMVNLMDMYVPGKL-7.15543-7.26883
HLA-B14:023BVN8837SMVNLMDMYVPGKL-4.77435-5.80965
HLA-B52:013W398837SMVNLMDMYVPGKL-6.80875-6.92215
HLA-B52:013W398837SMVNLMDMYVPGKL-4.20386-5.23916
HLA-A11:014UQ28837SMVNLMDMYVPGKL-7.5194-8.5547
HLA-A11:014UQ28837SMVNLMDMYVPGKL-6.9601-7.0735
HLA-A24:025HGA8837SMVNLMDMYVPGKL-7.52403-7.63743
HLA-A24:025HGA8837SMVNLMDMYVPGKL-5.82433-6.85963
HLA-B27:056PYJ8837SMVNLMDMYVPGKL-3.28285-4.31815
HLA-B44:053DX88837SMVNLMDMYVPGKL-5.91172-6.94702
HLA-B44:053DX88837SMVNLMDMYVPGKL-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of CAPN1-PFDN5

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
CAPN1-PFDN5chr1164976858chr12536916341220DMYVPGKLGATATGTATGTCCCTGGGAAGCTG
CAPN1-PFDN5chr1164976858chr1253691634615SMVNLMDMYAGCATGGTGAACCTCATGGATATGTAT
CAPN1-PFDN5chr1164976858chr1253691634716MVNLMDMYVATGGTGAACCTCATGGATATGTATGTC

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 CAPN1-PFDN5

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
STADCAPN1-PFDN5chr1164976858ENST00000279247chr1253691634ENST00000351500TCGA-HU-A4GN-01A

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Potential target of CAR-T therapy development for CAPN1-PFDN5

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 CAPN1-PFDN5

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 CAPN1-PFDN5

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