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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:CPAMD8-SAP18

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CPAMD8-SAP18
FusionPDB ID: 18897
FusionGDB2.0 ID: 18897
HgeneTgene
Gene symbol

CPAMD8

SAP18

Gene ID

27151

10284

Gene nameC3 and PZP like alpha-2-macroglobulin domain containing 8Sin3A associated protein 18
SynonymsASGD8|K-CAP|VIP2HOR0202|SAP18P
Cytomap

19p13.11

13q12.11

Type of geneprotein-codingprotein-coding
DescriptionC3 and PZP-like alpha-2-macroglobulin domain-containing protein 8alpha-2 macroglobulin family protein VIPhistone deacetylase complex subunit SAP1818 kDa Sin3-associated polypeptideSin3A-associated protein, 18kDacell growth inhibiting protein 38cell growth-inhibiting gene 38 proteinepididymis secretory sperm binding proteinhistone deacetlyase complex su
Modification date2020031320200313
UniProtAcc

Q8IZJ3

Main function of 5'-partner protein:
.
Ensembl transtripts involved in fusion geneENST idsENST00000443236, ENST00000597335, 
ENST00000388925, 
ENST00000485646, 
ENST00000382533, ENST00000607003, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 6 X 5=2404 X 5 X 2=40
# samples 75
** MAII scorelog2(7/240*10)=-1.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Fusion gene context

PubMed: CPAMD8 [Title/Abstract] AND SAP18 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: CPAMD8 [Title/Abstract] AND SAP18 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CPAMD8(17006987)-SAP18(21720944), # samples:2
Anticipated loss of major functional domain due to fusion event.CPAMD8-SAP18 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.
CPAMD8-SAP18 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
TgeneSAP18

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

20966198

TgeneSAP18

GO:0043065

positive regulation of apoptotic process

12665594

TgeneSAP18

GO:0048025

negative regulation of mRNA splicing, via spliceosome

12665594



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/chr19:17006987/chr13:21720944)
- 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 CPAMD8 (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 SAP18 (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)
ENST00000443236CPAMD8chr1917006987-ENST00000382533SAP18chr1321720944+76195599858781956
ENST00000443236CPAMD8chr1917006987-ENST00000607003SAP18chr1321720944+76195599858781956

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
ENST00000443236ENST00000382533CPAMD8chr1917006987-SAP18chr1321720944+0.0009331530.9990669
ENST00000443236ENST00000607003CPAMD8chr1917006987-SAP18chr1321720944+0.0009331530.9990669

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 CPAMD8-SAP18

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
CPAMD8chr1917006987SAP18chr132172094455991863EDSDPEPEGEAEDRMDATLKELTSLV

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Potential FusionNeoAntigen Information of CPAMD8-SAP18 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.
CPAMD8-SAP18_17006987_21720944.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)
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B45:01GEAEDRMDA0.99050.958817
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B50:02GEAEDRMDA0.95590.7972817
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B45:01AEDRMDATL0.89560.96541019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B47:01AEDRMDATL0.84770.6511019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:13AEDRMDATL0.59590.97441019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B41:01AEDRMDATL0.39580.9491019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B41:01GEAEDRMDA0.21270.9692817
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B50:01GEAEDRMDA0.04270.9351817
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:24DRMDATLKEL0.9990.56331222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:01DRMDATLKEL0.99860.92931222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B14:02DRMDATLKEL0.99740.84731222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B14:01DRMDATLKEL0.99740.84731222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B38:02DRMDATLKEL0.99720.9711222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B38:01DRMDATLKEL0.99710.9681222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B15:10DRMDATLKEL0.98760.5871222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B15:37DRMDATLKEL0.9630.58391222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B07:10DRMDATLKEL0.52080.65231222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B40:01GEAEDRMDATL0.99980.6189819
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:13GEAEDRMDATL0.99690.9831819
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B48:03AEDRMDATL0.99630.5371019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B44:10AEDRMDATL0.99270.67731019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B40:06GEAEDRMDA0.99130.9407817
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:08AEDRMDATL0.6940.92071019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:09DRMDATLKEL0.99870.81131222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:12DRMDATLKEL0.99810.93331222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:05DRMDATLKEL0.99760.92381222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B73:01DRMDATLKEL0.97220.75461222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B14:03DRMDATLKEL0.94930.87451222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B48:03GEAEDRMDATL0.99980.6434819
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:08GEAEDRMDATL0.99890.9464819
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B40:04AEDRMDATL0.99820.81019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B40:12AEDRMDATL0.99630.5371019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:11AEDRMDATL0.67130.88291019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B41:03AEDRMDATL0.63590.79771019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:02AEDRMDATL0.56270.97491019
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B50:04GEAEDRMDA0.04270.9351817
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B50:05GEAEDRMDA0.04270.9351817
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:31DRMDATLKEL0.99880.92961222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B38:05DRMDATLKEL0.99710.9681222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B15:09DRMDATLKEL0.9660.65021222
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B40:04GEAEDRMDATL0.99990.8961819
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B40:12GEAEDRMDATL0.99980.6434819
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B40:49GEAEDRMDATL0.99980.6193819
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B40:36GEAEDRMDATL0.99980.6126819
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B39:02GEAEDRMDATL0.99650.983819
CPAMD8-SAP18chr1917006987chr13217209445599HLA-B41:03GEAEDRMDATL0.99070.8631819

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Potential FusionNeoAntigen Information of CPAMD8-SAP18 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 CPAMD8-SAP18

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
6580PEGEAEDRMDATLKCPAMD8SAP18chr1917006987chr13217209445599

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CPAMD8-SAP18

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-B14:023BVN6580PEGEAEDRMDATLK-7.15543-7.26883
HLA-B14:023BVN6580PEGEAEDRMDATLK-4.77435-5.80965
HLA-B52:013W396580PEGEAEDRMDATLK-6.80875-6.92215
HLA-B52:013W396580PEGEAEDRMDATLK-4.20386-5.23916
HLA-A11:014UQ26580PEGEAEDRMDATLK-7.5194-8.5547
HLA-A11:014UQ26580PEGEAEDRMDATLK-6.9601-7.0735
HLA-A24:025HGA6580PEGEAEDRMDATLK-7.52403-7.63743
HLA-A24:025HGA6580PEGEAEDRMDATLK-5.82433-6.85963
HLA-B27:056PYJ6580PEGEAEDRMDATLK-3.28285-4.31815
HLA-B44:053DX86580PEGEAEDRMDATLK-5.91172-6.94702
HLA-B44:053DX86580PEGEAEDRMDATLK-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of CPAMD8-SAP18

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
CPAMD8-SAP18chr1917006987chr13217209441019AEDRMDATLGGAGGACAGGATGGATGCAACCTTGAA
CPAMD8-SAP18chr1917006987chr13217209441222DRMDATLKELCAGGATGGATGCAACCTTGAAAGAACTGAC
CPAMD8-SAP18chr1917006987chr1321720944817GEAEDRMDAGGAGGCGGAGGACAGGATGGATGCAAC
CPAMD8-SAP18chr1917006987chr1321720944819GEAEDRMDATLGGAGGCGGAGGACAGGATGGATGCAACCTTGAA

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 CPAMD8-SAP18

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
BRCACPAMD8-SAP18chr1917006987ENST00000443236chr1321720944ENST00000382533TCGA-AN-A0FX-01A

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Potential target of CAR-T therapy development for CPAMD8-SAP18

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 CPAMD8-SAP18

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 CPAMD8-SAP18

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