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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:CADPS2-RPGR

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CADPS2-RPGR
FusionPDB ID: 12478
FusionGDB2.0 ID: 12478
HgeneTgene
Gene symbol

CADPS2

RPGR

Gene ID

93664

6103

Gene namecalcium dependent secretion activator 2retinitis pigmentosa GTPase regulator
SynonymsCAPS2COD1|CORDX1|CRD|PCDX|RP15|RP3|XLRP3|orf15
Cytomap

7q31.32

Xp11.4

Type of geneprotein-codingprotein-coding
Descriptioncalcium-dependent secretion activator 2CAPS-2Ca++-dependent secretion activator 2Ca2+ dependent secretion activator 2Ca2+-dependent activator protein for secretion 2calcium-dependent activator protein for secretion 2X-linked retinitis pigmentosa GTPase regulatorretinitis pigmentosa 15retinitis pigmentosa 3 GTPase regulator
Modification date2020031320200329
UniProtAcc

Q86UW7

Main function of 5'-partner protein: FUNCTION: Calcium-binding protein involved in exocytosis of vesicles filled with neurotransmitters and neuropeptides. Probably acts upstream of fusion in the biogenesis or maintenance of mature secretory vesicles. Regulates neurotrophin release from granule cells leading to regulate cell differentiation and survival during cerebellar development. May specifically mediate the Ca(2+)-dependent exocytosis of large dense-core vesicles (DCVs) and other dense-core vesicles (By similarity). {ECO:0000250}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000313070, ENST00000334010, 
ENST00000412584, ENST00000449022, 
ENST00000476131, 
ENST00000309513, 
ENST00000338898, ENST00000339363, 
ENST00000342811, ENST00000378505, 
ENST00000318842, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 11 X 7=9244 X 3 X 3=36
# samples 144
** MAII scorelog2(14/924*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Fusion gene context

PubMed: CADPS2 [Title/Abstract] AND RPGR [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: CADPS2 [Title/Abstract] AND RPGR [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CADPS2(122078395)-RPGR(38150737), # samples:2
Anticipated loss of major functional domain due to fusion event.CADPS2-RPGR 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.
CADPS2-RPGR 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.
CADPS2-RPGR 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.
CADPS2-RPGR 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


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/chr7:122078395/chrX:38150737)
- 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 CADPS2 (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 RPGR (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)
ENST00000313070CADPS2chr7122078395-ENST00000318842RPGRchrX38150737-4386288942239221166
ENST00000334010CADPS2chr7122078395-ENST00000318842RPGRchrX38150737-4398290142239341170
ENST00000412584CADPS2chr7122078395-ENST00000318842RPGRchrX38150737-4085258812136211166
ENST00000449022CADPS2chr7122078395-ENST00000318842RPGRchrX38150737-399324962035291169

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
ENST00000313070ENST00000318842CADPS2chr7122078395-RPGRchrX38150737-0.0006905510.9993094
ENST00000334010ENST00000318842CADPS2chr7122078395-RPGRchrX38150737-0.0008396580.9991604
ENST00000412584ENST00000318842CADPS2chr7122078395-RPGRchrX38150737-0.0004925790.9995074
ENST00000449022ENST00000318842CADPS2chr7122078395-RPGRchrX38150737-0.0006996240.99930036

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 CADPS2-RPGR

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
CADPS2chr7122078395RPGRchrX381507372496825INYTRLTEYAKIEDYLLDEMTKEAEI
CADPS2chr7122078395RPGRchrX381507372588822INYTRLTEYAKIEDYLLDEMTKEAEI
CADPS2chr7122078395RPGRchrX381507372889822INYTRLTEYAKIEDYLLDEMTKEAEI
CADPS2chr7122078395RPGRchrX381507372901826INYTRLTEYAKIEDYLLDEMTKEAEI

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Potential FusionNeoAntigen Information of CADPS2-RPGR 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.
CADPS2-RPGR_122078395_38150737.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)
CADPS2-RPGRchr7122078395chrX381507372889HLA-B44:03TEYAKIEDY0.99850.8939615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B18:01TEYAKIEDY0.99620.9298615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B35:03YAKIEDYLL0.86580.9333817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B35:02YAKIEDYLL0.6480.9566817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B35:04YAKIEDYLL0.6480.9566817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B15:03TEYAKIEDY0.13140.6131615
CADPS2-RPGRchr7122078395chrX381507372889HLA-C03:07YAKIEDYLL0.99890.9818817
CADPS2-RPGRchr7122078395chrX381507372889HLA-C03:19YAKIEDYLL0.99850.9905817
CADPS2-RPGRchr7122078395chrX381507372889HLA-C03:08YAKIEDYLL0.99820.9413817
CADPS2-RPGRchr7122078395chrX381507372889HLA-C12:12YAKIEDYLL0.85470.9501817
CADPS2-RPGRchr7122078395chrX381507372889HLA-C08:03YAKIEDYLL0.78950.9869817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B35:12YAKIEDYLL0.6480.9566817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B39:08IEDYLLDEM0.42910.71791120
CADPS2-RPGRchr7122078395chrX381507372889HLA-B40:03RLTEYAKIEDY0.90050.5172415
CADPS2-RPGRchr7122078395chrX381507372889HLA-C16:01YAKIEDYL0.99470.9724816
CADPS2-RPGRchr7122078395chrX381507372889HLA-B44:13TEYAKIEDY0.99850.8939615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B44:26TEYAKIEDY0.99850.8939615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B44:07TEYAKIEDY0.99850.8939615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B18:04TEYAKIEDY0.99810.9373615
CADPS2-RPGRchr7122078395chrX381507372889HLA-C03:04YAKIEDYLL0.9980.9898817
CADPS2-RPGRchr7122078395chrX381507372889HLA-C03:03YAKIEDYLL0.9980.9898817
CADPS2-RPGRchr7122078395chrX381507372889HLA-C03:05YAKIEDYLL0.99780.9592817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B18:07TEYAKIEDY0.99730.9054615
CADPS2-RPGRchr7122078395chrX381507372889HLA-C03:17YAKIEDYLL0.99660.9735817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B18:08TEYAKIEDY0.99660.9043615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B18:05TEYAKIEDY0.99620.9298615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B18:06TEYAKIEDY0.99510.9308615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B18:03TEYAKIEDY0.99220.9219615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B40:04IEDYLLDEM0.98820.71591120
CADPS2-RPGRchr7122078395chrX381507372889HLA-C16:04YAKIEDYLL0.96970.983817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B18:11TEYAKIEDY0.96810.8843615
CADPS2-RPGRchr7122078395chrX381507372889HLA-C03:06YAKIEDYLL0.91020.9909817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B35:13YAKIEDYLL0.85680.9376817
CADPS2-RPGRchr7122078395chrX381507372889HLA-C12:03YAKIEDYLL0.85060.9791817
CADPS2-RPGRchr7122078395chrX381507372889HLA-C16:02YAKIEDYLL0.84380.9891817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B15:12TEYAKIEDY0.79750.8924615
CADPS2-RPGRchr7122078395chrX381507372889HLA-C08:01YAKIEDYLL0.78950.9869817
CADPS2-RPGRchr7122078395chrX381507372889HLA-C16:01YAKIEDYLL0.78270.9779817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B35:28TEYAKIEDY0.7530.865615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B35:20TEYAKIEDY0.670.8771615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B35:09YAKIEDYLL0.6480.9566817
CADPS2-RPGRchr7122078395chrX381507372889HLA-B15:53TEYAKIEDY0.56220.8709615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B48:02TEYAKIEDY0.14390.8464615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B15:54TEYAKIEDY0.10670.8496615
CADPS2-RPGRchr7122078395chrX381507372889HLA-B15:68TEYAKIEDY0.01070.59615

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Potential FusionNeoAntigen Information of CADPS2-RPGR 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 CADPS2-RPGR

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
9323TEYAKIEDYLLDEMCADPS2RPGRchr7122078395chrX381507372889

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CADPS2-RPGR

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-B14:023BVN9323TEYAKIEDYLLDEM-7.9962-8.1096
HLA-B14:023BVN9323TEYAKIEDYLLDEM-5.70842-6.74372
HLA-B52:013W399323TEYAKIEDYLLDEM-6.83737-6.95077
HLA-B52:013W399323TEYAKIEDYLLDEM-4.4836-5.5189
HLA-A11:014UQ29323TEYAKIEDYLLDEM-10.0067-10.1201
HLA-A11:014UQ29323TEYAKIEDYLLDEM-9.03915-10.0745
HLA-A24:025HGA9323TEYAKIEDYLLDEM-6.56204-6.67544
HLA-A24:025HGA9323TEYAKIEDYLLDEM-5.42271-6.45801
HLA-B44:053DX89323TEYAKIEDYLLDEM-7.85648-8.89178
HLA-B44:053DX89323TEYAKIEDYLLDEM-5.3978-5.5112
HLA-A02:016TDR9323TEYAKIEDYLLDEM-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of CADPS2-RPGR

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
CADPS2-RPGRchr7122078395chrX381507371120IEDYLLDEMTAGAAGATTATTTGCTAGATGAAATGA
CADPS2-RPGRchr7122078395chrX38150737415RLTEYAKIEDYGACTCACAGAATATGCCAAAATAGAAGATTATT
CADPS2-RPGRchr7122078395chrX38150737615TEYAKIEDYCAGAATATGCCAAAATAGAAGATTATT
CADPS2-RPGRchr7122078395chrX38150737816YAKIEDYLATGCCAAAATAGAAGATTATTTGC
CADPS2-RPGRchr7122078395chrX38150737817YAKIEDYLLATGCCAAAATAGAAGATTATTTGCTAG

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 CADPS2-RPGR

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
CESCCADPS2-RPGRchr7122078395ENST00000313070chrX38150737ENST00000318842TCGA-Q1-A6DW-01A

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Potential target of CAR-T therapy development for CADPS2-RPGR

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 CADPS2-RPGR

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 CADPS2-RPGR

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