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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:CHD7-ASPH

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CHD7-ASPH
FusionPDB ID: 16372
FusionGDB2.0 ID: 16372
HgeneTgene
Gene symbol

CHD7

ASPH

Gene ID

55636

444

Gene namechromodomain helicase DNA binding protein 7aspartate beta-hydroxylase
SynonymsCRG|HH5|IS3|KAL5AAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin
Cytomap

8q12.2

8q12.3

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 7ATP-dependent helicase CHD7CHARGE associationchromodomain helicase DNA binding protein 7 isoform CRA_easpartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenase
Modification date2020032820200315
UniProtAcc

Q9P2D1

Main function of 5'-partner protein: FUNCTION: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. {ECO:0000269|PubMed:22646239}.

Q6ICH7

Main function of 5'-partner protein: FUNCTION: May function as 2-oxoglutarate-dependent dioxygenase. {ECO:0000250}.
Ensembl transtripts involved in fusion geneENST idsENST00000423902, ENST00000524602, 
ENST00000525508, ENST00000529472, 
ENST00000356457, ENST00000379449, 
ENST00000389204, ENST00000445642, 
ENST00000517661, ENST00000517847, 
ENST00000517856, ENST00000517903, 
ENST00000518068, ENST00000522603, 
ENST00000522835, ENST00000522919, 
ENST00000523897, ENST00000379454, 
ENST00000541428, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 8 X 8=76817 X 17 X 5=1445
# samples 1719
** MAII scorelog2(17/768*10)=-2.17557156458345
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1445*10)=-2.92699816905709
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: CHD7 [Title/Abstract] AND ASPH [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: CHD7 [Title/Abstract] AND ASPH [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CHD7(61655656)-ASPH(62596747), # samples:3
Anticipated loss of major functional domain due to fusion event.CHD7-ASPH 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.
CHD7-ASPH 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.
CHD7-ASPH 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.
CHD7-ASPH 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.
CHD7-ASPH seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
CHD7-ASPH seems lost the major protein functional domain in Hgene partner, which is a essential gene 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
TgeneASPH

GO:0045862

positive regulation of proteolysis

18387192

TgeneASPH

GO:0097202

activation of cysteine-type endopeptidase activity

18387192



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/chr8:61655656/chr8:62596747)
- 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 CHD7 (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 ASPH (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)
ENST00000423902CHD7chr861693989+ENST00000379454ASPHchr862416068-485625754462725759
ENST00000525508CHD7chr861693989+ENST00000379454ASPHchr862416068-4377209602246748

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
ENST00000423902ENST00000379454CHD7chr861693989+ASPHchr862416068-0.0028848370.99711514
ENST00000525508ENST00000379454CHD7chr861693989+ASPHchr862416068-0.0025614130.99743855

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 CHD7-ASPH

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
CHD7chr861693989ASPHchr8624160682096693KEKKAKTATPKPKSSKKSRTWEEGKV
CHD7chr861693989ASPHchr8624160682575704KEKKAKTATPKPKSSKKSRTWEEGKV

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Potential FusionNeoAntigen Information of CHD7-ASPH 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.
CHD7-ASPH_61693989_62416068.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)
CHD7-ASPHchr861693989chr8624160682575HLA-B57:01KSSKKSRTW0.99880.9581221
CHD7-ASPHchr861693989chr8624160682575HLA-B58:02KSSKKSRTW0.99640.84151221
CHD7-ASPHchr861693989chr8624160682575HLA-B58:01KSSKKSRTW0.99540.87181221
CHD7-ASPHchr861693989chr8624160682575HLA-B15:17KSSKKSRTW0.98780.8411221
CHD7-ASPHchr861693989chr8624160682575HLA-A30:08ATPKPKSSK0.98690.6122716
CHD7-ASPHchr861693989chr8624160682575HLA-B57:03KSSKKSRTW0.97850.9761221
CHD7-ASPHchr861693989chr8624160682575HLA-B15:16KSSKKSRTW0.96310.65291221
CHD7-ASPHchr861693989chr8624160682575HLA-A30:08KTATPKPKS0.94590.5256514
CHD7-ASPHchr861693989chr8624160682575HLA-A32:13KSSKKSRTW0.74130.8481221
CHD7-ASPHchr861693989chr8624160682575HLA-A30:08ATPKPKSSKK0.97490.6119717
CHD7-ASPHchr861693989chr8624160682575HLA-A30:08KTATPKPKSSK0.99950.5378516
CHD7-ASPHchr861693989chr8624160682575HLA-B57:01KPKSSKKSRTW0.99940.90881021
CHD7-ASPHchr861693989chr8624160682575HLA-B58:02KPKSSKKSRTW0.99750.77751021
CHD7-ASPHchr861693989chr8624160682575HLA-B58:01KPKSSKKSRTW0.99390.76771021
CHD7-ASPHchr861693989chr8624160682575HLA-B57:10KSSKKSRTW0.99880.9581221
CHD7-ASPHchr861693989chr8624160682575HLA-B57:04KSSKKSRTW0.99580.70751221
CHD7-ASPHchr861693989chr8624160682575HLA-B58:06KSSKKSRTW0.99340.73321221
CHD7-ASPHchr861693989chr8624160682575HLA-A30:01ATPKPKSSK0.98480.6886716
CHD7-ASPHchr861693989chr8624160682575HLA-A32:01KSSKKSRTW0.95180.81341221
CHD7-ASPHchr861693989chr8624160682575HLA-B57:02KSSKKSRTW0.85830.86371221
CHD7-ASPHchr861693989chr8624160682575HLA-B15:24KSSKKSRTW0.49920.88161221
CHD7-ASPHchr861693989chr8624160682575HLA-A30:01ATPKPKSSKK0.97280.6933717
CHD7-ASPHchr861693989chr8624160682575HLA-B58:06PKSSKKSRTW0.92610.5631121
CHD7-ASPHchr861693989chr8624160682575HLA-B58:06KSSKKSRTWE0.79860.77391222
CHD7-ASPHchr861693989chr8624160682575HLA-A30:01KTATPKPKSSK0.99950.7052516
CHD7-ASPHchr861693989chr8624160682575HLA-B57:10KPKSSKKSRTW0.99940.90881021
CHD7-ASPHchr861693989chr8624160682575HLA-B57:04KPKSSKKSRTW0.99830.67251021
CHD7-ASPHchr861693989chr8624160682575HLA-B58:06KPKSSKKSRTW0.9960.67961021
CHD7-ASPHchr861693989chr8624160682575HLA-B57:02KPKSSKKSRTW0.99360.85961021

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Potential FusionNeoAntigen Information of CHD7-ASPH 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 CHD7-ASPH

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
9257TATPKPKSSKKSRTCHD7ASPHchr861693989chr8624160682575

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of CHD7-ASPH

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-B14:023BVN9257TATPKPKSSKKSRT-6.82772-6.95612
HLA-B14:023BVN9257TATPKPKSSKKSRT-5.36753-6.41783
HLA-B14:023BVN9257TATPKPKSSKKSRT-5.3081-7.4927
HLA-B14:023BVN9257TATPKPKSSKKSRT-2.80485-2.93325
HLA-B14:023BVN9257TATPKPKSSKKSRT-2.71947-3.76977
HLA-B14:023BVN9257TATPKPKSSKKSRT-1.54533-3.72993
HLA-B52:013W399257TATPKPKSSKKSRT-5.59361-5.72201
HLA-B52:013W399257TATPKPKSSKKSRT-3.91547-6.10007
HLA-B52:013W399257TATPKPKSSKKSRT-3.51421-4.56451
HLA-A11:014UQ29257TATPKPKSSKKSRT-6.20782-7.25812
HLA-A11:014UQ29257TATPKPKSSKKSRT-5.76568-7.95028
HLA-A11:014UQ29257TATPKPKSSKKSRT-5.47272-5.60112
HLA-A11:014UQ29257TATPKPKSSKKSRT-2.09444-3.14474
HLA-A24:025HGA9257TATPKPKSSKKSRT-6.15042-6.27882
HLA-A24:025HGA9257TATPKPKSSKKSRT-6.01578-6.14418
HLA-A24:025HGA9257TATPKPKSSKKSRT-3.51258-5.69718
HLA-A24:025HGA9257TATPKPKSSKKSRT-3.17681-4.22711
HLA-A24:025HGA9257TATPKPKSSKKSRT-2.92415-5.10875
HLA-A24:025HGA9257TATPKPKSSKKSRT-1.40898-2.45928
HLA-B27:056PYJ9257TATPKPKSSKKSRT-5.66999-5.79839
HLA-B27:056PYJ9257TATPKPKSSKKSRT-1.57868-3.76328
HLA-B44:053DX89257TATPKPKSSKKSRT-6.52204-6.65044
HLA-B44:053DX89257TATPKPKSSKKSRT-4.45562-5.50592
HLA-B44:053DX89257TATPKPKSSKKSRT-3.38014-5.56474

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Vaccine Design for the FusionNeoAntigens of CHD7-ASPH

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
CHD7-ASPHchr861693989chr8624160681021KPKSSKKSRTWAAAGTCAAGGACCTGGGAGGAAGGCAAGGTGCT
CHD7-ASPHchr861693989chr8624160681121PKSSKKSRTWGTCAAGGACCTGGGAGGAAGGCAAGGTGCT
CHD7-ASPHchr861693989chr8624160681221KSSKKSRTWAAGGACCTGGGAGGAAGGCAAGGTGCT
CHD7-ASPHchr861693989chr8624160681222KSSKKSRTWEAAGGACCTGGGAGGAAGGCAAGGTGCTCAT
CHD7-ASPHchr861693989chr862416068514KTATPKPKSACCCAAATCCAGCAAAAAGTCAAGGAC
CHD7-ASPHchr861693989chr862416068516KTATPKPKSSKACCCAAATCCAGCAAAAAGTCAAGGACCTGGGA
CHD7-ASPHchr861693989chr862416068716ATPKPKSSKATCCAGCAAAAAGTCAAGGACCTGGGA
CHD7-ASPHchr861693989chr862416068717ATPKPKSSKKATCCAGCAAAAAGTCAAGGACCTGGGAGGA

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 CHD7-ASPH

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
BRCACHD7-ASPHchr861693989ENST00000423902chr862416068ENST00000379454TCGA-A7-A2KD-01A

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Potential target of CAR-T therapy development for CHD7-ASPH

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
TgeneASPHchr8:61693989chr8:62416068ENST0000035645701454_740314.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneASPHchr8:61693989chr8:62416068ENST000003794490554_740204.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneASPHchr8:61693989chr8:62416068ENST000003892040654_740226.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneASPHchr8:61693989chr8:62416068ENST0000044564201654_740651.6666666666666TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneASPHchr8:61693989chr8:62416068ENST0000051784701554_740300.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneASPHchr8:61693989chr8:62416068ENST0000051790301554_740299.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneASPHchr8:61693989chr8:62416068ENST0000051806801354_740271.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneASPHchr8:61693989chr8:62416068ENST000005226030554_740211.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneASPHchr8:61693989chr8:62416068ENST0000052283501454_740257.0TransmembraneHelical%3B Signal-anchor for type II membrane protein

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 CHD7-ASPH

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 CHD7-ASPH

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