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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:AGTPBP1-GNAQ

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AGTPBP1-GNAQ
FusionPDB ID: 3022
FusionGDB2.0 ID: 3022
HgeneTgene
Gene symbol

AGTPBP1

GNAQ

Gene ID

23287

2776

Gene nameATP/GTP binding protein 1G protein subunit alpha q
SynonymsCCP1|CONDCA|NNA1CMC1|G-ALPHA-q|GAQ|SWS
Cytomap

9q21.33

9q21.2

Type of geneprotein-codingprotein-coding
Descriptioncytosolic carboxypeptidase 1carboxypeptidase-tubulinnervous system nuclear protein induced by axotomy protein 1 homologsoluble carboxypeptidasetubulinyl-Tyr carboxypeptidasetyrosine carboxypeptidaseguanine nucleotide-binding protein G(q) subunit alphaepididymis secretory sperm binding proteinguanine nucleotide binding protein (G protein), q polypeptideguanine nucleotide-binding protein alpha-q
Modification date2020031320200313
UniProtAcc

Q9UPW5

Main function of 5'-partner protein: FUNCTION: Metallocarboxypeptidase that mediates deglutamylation of target proteins. Catalyzes the deglutamylation of polyglutamate side chains generated by post-translational polyglutamylation in proteins such as tubulins (PubMed:30420557). Also removes gene-encoded polyglutamates from the carboxy-terminus of target proteins such as MYLK. Acts as a long-chain deglutamylase and specifically shortens long polyglutamate chains, while it is not able to remove the branching point glutamate, a process catalyzed by AGBL5/CCP5. {ECO:0000250|UniProtKB:Q641K1, ECO:0000269|PubMed:30420557}.

P50148

Main function of 5'-partner protein: FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs). {ECO:0000250, ECO:0000269|PubMed:27852822}.
Ensembl transtripts involved in fusion geneENST idsENST00000491784, ENST00000337006, 
ENST00000357081, ENST00000376080, 
ENST00000376081, ENST00000376083, 
ENST00000376109, ENST00000432218, 
ENST00000286548, ENST00000397476, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score15 X 12 X 4=7207 X 7 X 3=147
# samples 158
** MAII scorelog2(15/720*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/147*10)=-0.877744249949002
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: AGTPBP1 [Title/Abstract] AND GNAQ [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: AGTPBP1 [Title/Abstract] AND GNAQ [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AGTPBP1(88292350)-GNAQ(80336429), # samples:1
AGTPBP1(88292351)-GNAQ(80336429), # samples:1
Anticipated loss of major functional domain due to fusion event.AGTPBP1-GNAQ 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.
AGTPBP1-GNAQ 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.
AGTPBP1-GNAQ 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.
AGTPBP1-GNAQ 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.
AGTPBP1-GNAQ seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
AGTPBP1-GNAQ seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
AGTPBP1-GNAQ seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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


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/chr9:88292350/chr9:80336429)
- 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 AGTPBP1 (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 GNAQ (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)
ENST00000376083AGTPBP1chr988292350-ENST00000286548GNAQchr980336429-594051377703208
ENST00000357081AGTPBP1chr988292350-ENST00000286548GNAQchr980336429-6008581145771208
ENST00000376109AGTPBP1chr988292350-ENST00000286548GNAQchr980336429-608665952849265
ENST00000432218AGTPBP1chr988292350-ENST00000286548GNAQchr980336429-56572301420139
ENST00000376081AGTPBP1chr988292350-ENST00000286548GNAQchr980336429-6010583147773208
ENST00000376083AGTPBP1chr988292351-ENST00000286548GNAQchr980336429-594051377703208
ENST00000357081AGTPBP1chr988292351-ENST00000286548GNAQchr980336429-6008581145771208
ENST00000376109AGTPBP1chr988292351-ENST00000286548GNAQchr980336429-608665952849265
ENST00000432218AGTPBP1chr988292351-ENST00000286548GNAQchr980336429-56572301420139
ENST00000376081AGTPBP1chr988292351-ENST00000286548GNAQchr980336429-6010583147773208

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
ENST00000376083ENST00000286548AGTPBP1chr988292350-GNAQchr980336429-0.0007899690.99921
ENST00000357081ENST00000286548AGTPBP1chr988292350-GNAQchr980336429-0.0007912810.99920875
ENST00000376109ENST00000286548AGTPBP1chr988292350-GNAQchr980336429-0.0001468890.99985313
ENST00000432218ENST00000286548AGTPBP1chr988292350-GNAQchr980336429-0.0414120260.95858794
ENST00000376081ENST00000286548AGTPBP1chr988292350-GNAQchr980336429-0.0007903290.99920964
ENST00000376083ENST00000286548AGTPBP1chr988292351-GNAQchr980336429-0.0007899690.99921
ENST00000357081ENST00000286548AGTPBP1chr988292351-GNAQchr980336429-0.0007912810.99920875
ENST00000376109ENST00000286548AGTPBP1chr988292351-GNAQchr980336429-0.0001468890.99985313
ENST00000432218ENST00000286548AGTPBP1chr988292351-GNAQchr980336429-0.0414120260.95858794
ENST00000376081ENST00000286548AGTPBP1chr988292351-GNAQchr980336429-0.0007903290.99920964

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 AGTPBP1-GNAQ

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
AGTPBP1chr988292350GNAQchr98033642923074LMVQIHSILAKIGPKGPQRDAQAARE
AGTPBP1chr988292350GNAQchr980336429513143LMVQIHSILAKIGPKGPQRDAQAARE
AGTPBP1chr988292350GNAQchr980336429581143LMVQIHSILAKIGPKGPQRDAQAARE
AGTPBP1chr988292350GNAQchr980336429583143LMVQIHSILAKIGPKGPQRDAQAARE
AGTPBP1chr988292350GNAQchr980336429659200LMVQIHSILAKIGPKGPQRDAQAARE
AGTPBP1chr988292351GNAQchr98033642923074LMVQIHSILAKIGPKGPQRDAQAARE
AGTPBP1chr988292351GNAQchr980336429513143LMVQIHSILAKIGPKGPQRDAQAARE
AGTPBP1chr988292351GNAQchr980336429581143LMVQIHSILAKIGPKGPQRDAQAARE
AGTPBP1chr988292351GNAQchr980336429583143LMVQIHSILAKIGPKGPQRDAQAARE
AGTPBP1chr988292351GNAQchr980336429659200LMVQIHSILAKIGPKGPQRDAQAARE

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Potential FusionNeoAntigen Information of AGTPBP1-GNAQ 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.
AGTPBP1-GNAQ_88292350_80336429.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)
AGTPBP1-GNAQchr988292350chr980336429581HLA-A74:11KIGPKGPQR0.96140.83981019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A74:09KIGPKGPQR0.96140.83981019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A74:03KIGPKGPQR0.96140.83981019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A30:08KIGPKGPQR0.96010.83811019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A31:06KIGPKGPQR0.93980.7041019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A03:12KIGPKGPQR0.93860.58461019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A03:25KIGPKGPQR0.9380.55381019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A31:02KIGPKGPQR0.91370.81081019
AGTPBP1-GNAQchr988292350chr980336429581HLA-B55:01GPKGPQRDAQA0.98740.65181223
AGTPBP1-GNAQchr988292350chr980336429581HLA-A31:01KIGPKGPQR0.97330.7921019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A03:01KIGPKGPQR0.9380.55381019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A30:01SILAKIGPK0.99260.6589615
AGTPBP1-GNAQchr988292350chr980336429581HLA-A30:01KIGPKGPQR0.96190.91571019
AGTPBP1-GNAQchr988292350chr980336429581HLA-A74:01KIGPKGPQR0.96140.83981019

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Potential FusionNeoAntigen Information of AGTPBP1-GNAQ 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.
AGTPBP1-GNAQ_88292350_80336429.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)
AGTPBP1-GNAQchr988292350chr980336429581DRB1-0123MVQIHSILAKIGPKG116
AGTPBP1-GNAQchr988292350chr980336429581DRB1-0804IHSILAKIGPKGPQR419
AGTPBP1-GNAQchr988292350chr980336429581DRB1-0804QIHSILAKIGPKGPQ318
AGTPBP1-GNAQchr988292350chr980336429581DRB1-0828IHSILAKIGPKGPQR419
AGTPBP1-GNAQchr988292350chr980336429581DRB1-0828QIHSILAKIGPKGPQ318
AGTPBP1-GNAQchr988292350chr980336429581DRB1-1167IHSILAKIGPKGPQR419
AGTPBP1-GNAQchr988292350chr980336429581DRB1-1167QIHSILAKIGPKGPQ318
AGTPBP1-GNAQchr988292350chr980336429581DRB1-1412IHSILAKIGPKGPQR419
AGTPBP1-GNAQchr988292350chr980336429581DRB1-1415IHSILAKIGPKGPQR419
AGTPBP1-GNAQchr988292350chr980336429581DRB1-1415QIHSILAKIGPKGPQ318

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Fusion breakpoint peptide structures of AGTPBP1-GNAQ

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
8649SILAKIGPKGPQRDAGTPBP1GNAQchr988292350chr980336429581

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of AGTPBP1-GNAQ

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-B14:023BVN8649SILAKIGPKGPQRD-7.9962-8.1096
HLA-B14:023BVN8649SILAKIGPKGPQRD-5.70842-6.74372
HLA-B52:013W398649SILAKIGPKGPQRD-6.83737-6.95077
HLA-B52:013W398649SILAKIGPKGPQRD-4.4836-5.5189
HLA-A11:014UQ28649SILAKIGPKGPQRD-10.0067-10.1201
HLA-A11:014UQ28649SILAKIGPKGPQRD-9.03915-10.0745
HLA-A24:025HGA8649SILAKIGPKGPQRD-6.56204-6.67544
HLA-A24:025HGA8649SILAKIGPKGPQRD-5.42271-6.45801
HLA-B44:053DX88649SILAKIGPKGPQRD-7.85648-8.89178
HLA-B44:053DX88649SILAKIGPKGPQRD-5.3978-5.5112
HLA-A02:016TDR8649SILAKIGPKGPQRD-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of AGTPBP1-GNAQ

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
AGTPBP1-GNAQchr988292350chr9803364291019KIGPKGPQRGACCAAAAGGACCCCAGAGAGATGCCC
AGTPBP1-GNAQchr988292350chr9803364291223GPKGPQRDAQAAAGGACCCCAGAGAGATGCCCAGGCAGCCCGAG
AGTPBP1-GNAQchr988292350chr980336429615SILAKIGPKTTGCAAAGATTGGACCAAAAGGACCCC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
AGTPBP1-GNAQchr988292350chr980336429116MVQIHSILAKIGPKGAGATTCATTCTATTCTTGCAAAGATTGGACCAAAAGGACCCCAGA
AGTPBP1-GNAQchr988292350chr980336429318QIHSILAKIGPKGPQATTCTATTCTTGCAAAGATTGGACCAAAAGGACCCCAGAGAGATG
AGTPBP1-GNAQchr988292350chr980336429419IHSILAKIGPKGPQRCTATTCTTGCAAAGATTGGACCAAAAGGACCCCAGAGAGATGCCC

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Information of the samples that have these potential fusion neoantigens of AGTPBP1-GNAQ

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
ESCAAGTPBP1-GNAQchr988292350ENST00000357081chr980336429ENST00000286548TCGA-V5-AASW

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Potential target of CAR-T therapy development for AGTPBP1-GNAQ

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 AGTPBP1-GNAQ

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 AGTPBP1-GNAQ

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