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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:SPAG9-BRIP1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SPAG9-BRIP1
FusionPDB ID: 85454
FusionGDB2.0 ID: 85454
HgeneTgene
Gene symbol

SPAG9

BRIP1

Gene ID

9043

83990

Gene namesperm associated antigen 9BRCA1 interacting protein C-terminal helicase 1
SynonymsCT89|HLC-6|HLC4|HLC6|JIP-4|JIP4|JLP|PHET|PIG6BACH1|FANCJ|OF
Cytomap

17q21.33

17q23.2

Type of geneprotein-codingprotein-coding
DescriptionC-Jun-amino-terminal kinase-interacting protein 4JNK interacting proteinJNK/SAPK-associated proteinMax-binding proteinc-Jun NH2-terminal kinase-associated leucine zipper proteincancer/testis antigen 89human lung cancer oncogene 6 proteinlung cancerFanconi anemia group J proteinATP-dependent RNA helicase BRIP1BRCA1-associated C-terminal helicase 1BRCA1-binding helicase-like protein BACH1BRCA1/BRCA2-associated helicase 1
Modification date2020031520200315
UniProtAcc.

Q9BX63

Main function of 5'-partner protein: FUNCTION: DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. {ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:14983014, ECO:0000269|PubMed:16116421, ECO:0000269|PubMed:16153896}.
Ensembl transtripts involved in fusion geneENST idsENST00000262013, ENST00000357122, 
ENST00000505279, ENST00000509724, 
ENST00000510283, 
ENST00000583837, 
ENST00000259008, ENST00000577598, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score20 X 21 X 10=420012 X 15 X 7=1260
# samples 2513
** MAII scorelog2(25/4200*10)=-4.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/1260*10)=-3.27684020535882
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SPAG9 [Title/Abstract] AND BRIP1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SPAG9 [Title/Abstract] AND BRIP1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BRIP1(59934419)-SPAG9(49157065), # samples:2
SPAG9(49133773)-BRIP1(59924581), # samples:2
Anticipated loss of major functional domain due to fusion event.BRIP1-SPAG9 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.
BRIP1-SPAG9 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.
SPAG9-BRIP1 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.
SPAG9-BRIP1 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.
SPAG9-BRIP1 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.
SPAG9-BRIP1 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.
BRIP1-SPAG9 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BRIP1-SPAG9 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BRIP1-SPAG9 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
SPAG9-BRIP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SPAG9-BRIP1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
SPAG9-BRIP1 seems lost the major protein functional domain in Tgene 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
HgeneSPAG9

GO:0042147

retrograde transport, endosome to Golgi

19056739

TgeneBRIP1

GO:0006357

regulation of transcription by RNA polymerase II

14504288



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/chr17:59934419/chr17:49157065)
- 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 SPAG9 (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 BRIP1 (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)
ENST00000262013SPAG9chr1749133773-ENST00000259008BRIP1chr1759924581-597770420939461245
ENST00000262013SPAG9chr1749133773-ENST00000577598BRIP1chr1759924581-41667042093181990
ENST00000505279SPAG9chr1749133773-ENST00000259008BRIP1chr1759924581-58465737838151245
ENST00000505279SPAG9chr1749133773-ENST00000577598BRIP1chr1759924581-4035573783050990
ENST00000357122SPAG9chr1749133773-ENST00000259008BRIP1chr1759924581-597770420939461245
ENST00000357122SPAG9chr1749133773-ENST00000577598BRIP1chr1759924581-41667042093181990
ENST00000262013SPAG9chr1749133772-ENST00000259008BRIP1chr1759924581-597770420939461245
ENST00000262013SPAG9chr1749133772-ENST00000577598BRIP1chr1759924581-41667042093181990
ENST00000505279SPAG9chr1749133772-ENST00000259008BRIP1chr1759924581-58465737838151245
ENST00000505279SPAG9chr1749133772-ENST00000577598BRIP1chr1759924581-4035573783050990
ENST00000357122SPAG9chr1749133772-ENST00000259008BRIP1chr1759924581-597770420939461245
ENST00000357122SPAG9chr1749133772-ENST00000577598BRIP1chr1759924581-41667042093181990

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
ENST00000262013ENST00000259008SPAG9chr1749133773-BRIP1chr1759924581-0.0001051770.99989486
ENST00000262013ENST00000577598SPAG9chr1749133773-BRIP1chr1759924581-0.000210280.9997898
ENST00000505279ENST00000259008SPAG9chr1749133773-BRIP1chr1759924581-9.10E-050.99990904
ENST00000505279ENST00000577598SPAG9chr1749133773-BRIP1chr1759924581-0.0001880470.99981195
ENST00000357122ENST00000259008SPAG9chr1749133773-BRIP1chr1759924581-0.0001051770.99989486
ENST00000357122ENST00000577598SPAG9chr1749133773-BRIP1chr1759924581-0.000210280.9997898
ENST00000262013ENST00000259008SPAG9chr1749133772-BRIP1chr1759924581-0.0001051770.99989486
ENST00000262013ENST00000577598SPAG9chr1749133772-BRIP1chr1759924581-0.000210280.9997898
ENST00000505279ENST00000259008SPAG9chr1749133772-BRIP1chr1759924581-9.10E-050.99990904
ENST00000505279ENST00000577598SPAG9chr1749133772-BRIP1chr1759924581-0.0001880470.99981195
ENST00000357122ENST00000259008SPAG9chr1749133772-BRIP1chr1759924581-0.0001051770.99989486
ENST00000357122ENST00000577598SPAG9chr1749133772-BRIP1chr1759924581-0.000210280.9997898

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 SPAG9-BRIP1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SPAG9chr1749133772BRIP1chr1759924581573165KKEYNALHQRHTEIRKRHCFGTEVHN
SPAG9chr1749133772BRIP1chr1759924581704165KKEYNALHQRHTEIRKRHCFGTEVHN
SPAG9chr1749133773BRIP1chr1759924581573165KKEYNALHQRHTEIRKRHCFGTEVHN
SPAG9chr1749133773BRIP1chr1759924581704165KKEYNALHQRHTEIRKRHCFGTEVHN

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Potential FusionNeoAntigen Information of SPAG9-BRIP1 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.
SPAG9-BRIP1_49133772_59924581.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)
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B27:05QRHTEIRKR0.99870.7426817
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B08:09ALHQRHTEI0.9980.6102514
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B44:03TEIRKRHCF0.98220.81461120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-A30:08HQRHTEIRK0.97950.5924716
SPAG9-BRIP1chr1749133772chr1759924581704HLA-A02:13ALHQRHTEI0.96930.657514
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B18:01TEIRKRHCF0.96280.92831120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-A02:38ALHQRHTEI0.9320.6676514
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B13:02ALHQRHTEI0.11640.7318514
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B27:14QRHTEIRKR0.99850.7172817
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B27:10QRHTEIRKR0.99780.7809817
SPAG9-BRIP1chr1749133772chr1759924581704HLA-A02:03ALHQRHTEI0.99370.6005514
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B44:07TEIRKRHCF0.98220.81461120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B44:13TEIRKRHCF0.98220.81461120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B44:26TEIRKRHCF0.98220.81461120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-A30:01HQRHTEIRK0.97970.7649716
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B18:07TEIRKRHCF0.96530.89531120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B18:08TEIRKRHCF0.96420.91041120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B18:05TEIRKRHCF0.96280.92831120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B18:06TEIRKRHCF0.95590.93641120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B18:04TEIRKRHCF0.94220.93861120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B15:73ALHQRHTEI0.87880.7965514
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B18:03TEIRKRHCF0.84970.92191120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B08:12ALHQRHTEI0.82750.5714514
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B18:11TEIRKRHCF0.60610.93191120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-C07:04ALHQRHTEI0.53830.9664514
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B41:03TEIRKRHCF0.27990.61341120
SPAG9-BRIP1chr1749133772chr1759924581704HLA-B15:53TEIRKRHCF0.10550.85641120

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Potential FusionNeoAntigen Information of SPAG9-BRIP1 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.
SPAG9-BRIP1_49133772_59924581.msa

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)
SPAG9-BRIP1chr1749133772chr1759924581704DRB1-0103KKEYNALHQRHTEIR015
SPAG9-BRIP1chr1749133772chr1759924581704DRB1-1130KKEYNALHQRHTEIR015
SPAG9-BRIP1chr1749133772chr1759924581704DRB1-1172KKEYNALHQRHTEIR015
SPAG9-BRIP1chr1749133772chr1759924581704DRB1-1216KKEYNALHQRHTEIR015
SPAG9-BRIP1chr1749133772chr1759924581704DRB1-1609KKEYNALHQRHTEIR015

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Fusion breakpoint peptide structures of SPAG9-BRIP1

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
5066LHQRHTEIRKRHCFSPAG9BRIP1chr1749133772chr1759924581704

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SPAG9-BRIP1

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-B14:023BVN5066LHQRHTEIRKRHCF-7.14368-7.25548
HLA-B14:023BVN5066LHQRHTEIRKRHCF-6.90724-7.95034
HLA-B52:013W395066LHQRHTEIRKRHCF-7.67666-8.71976
HLA-B52:013W395066LHQRHTEIRKRHCF-5.5221-5.6339
HLA-A11:014UQ25066LHQRHTEIRKRHCF-8.37369-9.41679
HLA-A11:014UQ25066LHQRHTEIRKRHCF-6.26273-6.37453
HLA-A24:025HGA5066LHQRHTEIRKRHCF-7.6158-8.6589
HLA-A24:025HGA5066LHQRHTEIRKRHCF-5.36701-5.47881
HLA-B44:053DX85066LHQRHTEIRKRHCF-8.09865-8.21045
HLA-B44:053DX85066LHQRHTEIRKRHCF-5.97829-7.02139

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Vaccine Design for the FusionNeoAntigens of SPAG9-BRIP1

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
SPAG9-BRIP1chr1749133772chr17599245811120TEIRKRHCFACTGAGATTAGAAAACGTCATTGCTTT
SPAG9-BRIP1chr1749133772chr1759924581514ALHQRHTEIGCATTACATCAAAGACACACTGAGATT
SPAG9-BRIP1chr1749133772chr1759924581716HQRHTEIRKCATCAAAGACACACTGAGATTAGAAAA
SPAG9-BRIP1chr1749133772chr1759924581817QRHTEIRKRCAAAGACACACTGAGATTAGAAAACGT

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
SPAG9-BRIP1chr1749133772chr1759924581015KKEYNALHQRHTEIRAAGAAGGAATATAATGCATTACATCAAAGACACACTGAGATTAGA

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Information of the samples that have these potential fusion neoantigens of SPAG9-BRIP1

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
BRCASPAG9-BRIP1chr1749133772ENST00000262013chr1759924581ENST00000259008TCGA-AR-A0TQ

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Potential target of CAR-T therapy development for SPAG9-BRIP1

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 SPAG9-BRIP1

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 SPAG9-BRIP1

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