FusionNeoAntigen Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine
leaf

Fusion Gene and Fusion Protein Summary

leaf

Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

leaf

Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

leaf

Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

leaf

Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

leaf

Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

leaf

Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

leaf

Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

leaf

Potential target of CAR-T therapy development

leaf

Information on the samples that have these potential fusion neoantigens

leaf

Fusion Protein Targeting Drugs - (Manual Curation)

leaf

Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:HIPK2-TBXAS1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: HIPK2-TBXAS1
FusionPDB ID: 36414
FusionGDB2.0 ID: 36414
HgeneTgene
Gene symbol

HIPK2

TBXAS1

Gene ID

28996

6916

Gene namehomeodomain interacting protein kinase 2thromboxane A synthase 1
SynonymsPRO0593BDPLT14|CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXS
Cytomap

7q34

7q34

Type of geneprotein-codingprotein-coding
Descriptionhomeodomain-interacting protein kinase 2hHIPk2thromboxane-A synthaseTXA synthasecytochrome P450 5A1cytochrome P450, family 5, subfamily A, polypeptide 1platelet, cytochrome P450, subfamily Vthromboxane A synthase 1 (platelet)
Modification date2020031320200327
UniProtAcc

Q9H2X6

Main function of 5'-partner protein: FUNCTION: Serine/threonine-protein kinase involved in transcription regulation, p53/TP53-mediated cellular apoptosis and regulation of the cell cycle. Acts as a corepressor of several transcription factors, including SMAD1 and POU4F1/Brn3a and probably NK homeodomain transcription factors. Phosphorylates PDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300, CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotes apoptosis through the activation of p53/TP53 both at the transcription level and at the protein level (by phosphorylation and indirect acetylation). The phosphorylation of p53/TP53 may be mediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in the response to hypoxia by acting as a transcriptional co-suppressor of HIF1A. Mediates transcriptional activation of TP73. In response to TGFB, cooperates with DAXX to activate JNK. Negative regulator through phosphorylation and subsequent proteasomal degradation of CTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-catenin signaling pathway acts as an intermediate kinase between MAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB. Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcription factors by phosphorylation in response to genotoxic stress. In response to DNA damage, stabilizes PML by phosphorylation. PML, HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involved in erythroid differentiation, especially during fetal liver erythropoiesis. Phosphorylation of RUNX1 and EP300 stimulates EP300 transcription regulation activity. Triggers ZBTB4 protein degradation in response to DNA damage. Modulates HMGA1 DNA-binding affinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in the regulation of eye size, lens formation and retinal lamination during late embryogenesis. {ECO:0000269|PubMed:11740489, ECO:0000269|PubMed:11925430, ECO:0000269|PubMed:12851404, ECO:0000269|PubMed:12874272, ECO:0000269|PubMed:14678985, ECO:0000269|PubMed:17018294, ECO:0000269|PubMed:17960875, ECO:0000269|PubMed:18695000, ECO:0000269|PubMed:18809579, ECO:0000269|PubMed:19015637, ECO:0000269|PubMed:19046997, ECO:0000269|PubMed:19448668, ECO:0000269|PubMed:20307497, ECO:0000269|PubMed:20573984, ECO:0000269|PubMed:20637728, ECO:0000269|PubMed:20980392, ECO:0000269|PubMed:21192925, ECO:0000269|PubMed:22825850}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000406875, ENST00000428878, 
ENST00000342645, 
ENST00000462275, 
ENST00000263552, ENST00000336425, 
ENST00000425687, ENST00000411653, 
ENST00000414508, ENST00000416849, 
ENST00000436047, ENST00000448866, 
ENST00000455353, ENST00000458722, 
ENST00000539806, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 13 X 12=265210 X 12 X 5=600
# samples 2512
** MAII scorelog2(25/2652*10)=-3.4070807754505
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/600*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: HIPK2 [Title/Abstract] AND TBXAS1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: HIPK2 [Title/Abstract] AND TBXAS1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)HIPK2(139477403)-TBXAS1(139706890), # samples:1
HIPK2(139477404)-TBXAS1(139706891), # samples:1
HIPK2(139477404)-TBXAS1(139487137), # samples:1
HIPK2(139477404)-TBXAS1(139482465), # samples:1
Anticipated loss of major functional domain due to fusion event.HIPK2-TBXAS1 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.
HIPK2-TBXAS1 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
HgeneHIPK2

GO:0006468

protein phosphorylation

19448668

HgeneHIPK2

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

14647468

HgeneHIPK2

GO:0045766

positive regulation of angiogenesis

19046997

HgeneHIPK2

GO:0060395

SMAD protein signal transduction

12874272



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/chr7:139477403/chr7:139706890)
- 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 HIPK2 (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 TBXAS1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

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)
ENST00000406875HIPK2chr7139477403-ENST00000425687TBXAS1chr7139706890+772114114581155
ENST00000406875HIPK2chr7139477403-ENST00000263552TBXAS1chr7139706890+806114114581155
ENST00000406875HIPK2chr7139477403-ENST00000336425TBXAS1chr7139706890+776114114581155
ENST00000406875HIPK2chr7139477403-ENST00000436047TBXAS1chr7139706890+806114114581155
ENST00000406875HIPK2chr7139477403-ENST00000416849TBXAS1chr7139706890+806114114581155
ENST00000406875HIPK2chr7139477403-ENST00000414508TBXAS1chr7139706890+643114248083
ENST00000406875HIPK2chr7139477403-ENST00000448866TBXAS1chr7139706890+776114114581155
ENST00000428878HIPK2chr7139477403-ENST00000425687TBXAS1chr7139706890+832174174641155
ENST00000428878HIPK2chr7139477403-ENST00000263552TBXAS1chr7139706890+866174174641155
ENST00000428878HIPK2chr7139477403-ENST00000336425TBXAS1chr7139706890+836174174641155
ENST00000428878HIPK2chr7139477403-ENST00000436047TBXAS1chr7139706890+866174174641155
ENST00000428878HIPK2chr7139477403-ENST00000416849TBXAS1chr7139706890+866174174641155
ENST00000428878HIPK2chr7139477403-ENST00000414508TBXAS1chr7139706890+7031743080103
ENST00000428878HIPK2chr7139477403-ENST00000448866TBXAS1chr7139706890+836174174641155
ENST00000406875HIPK2chr7139477404-ENST00000425687TBXAS1chr7139706891+772114114581155
ENST00000406875HIPK2chr7139477404-ENST00000263552TBXAS1chr7139706891+806114114581155
ENST00000406875HIPK2chr7139477404-ENST00000336425TBXAS1chr7139706891+776114114581155
ENST00000406875HIPK2chr7139477404-ENST00000436047TBXAS1chr7139706891+806114114581155
ENST00000406875HIPK2chr7139477404-ENST00000416849TBXAS1chr7139706891+806114114581155
ENST00000406875HIPK2chr7139477404-ENST00000414508TBXAS1chr7139706891+643114248083
ENST00000406875HIPK2chr7139477404-ENST00000448866TBXAS1chr7139706891+776114114581155
ENST00000428878HIPK2chr7139477404-ENST00000425687TBXAS1chr7139706891+832174174641155
ENST00000428878HIPK2chr7139477404-ENST00000263552TBXAS1chr7139706891+866174174641155
ENST00000428878HIPK2chr7139477404-ENST00000336425TBXAS1chr7139706891+836174174641155
ENST00000428878HIPK2chr7139477404-ENST00000436047TBXAS1chr7139706891+866174174641155
ENST00000428878HIPK2chr7139477404-ENST00000416849TBXAS1chr7139706891+866174174641155
ENST00000428878HIPK2chr7139477404-ENST00000414508TBXAS1chr7139706891+7031743080103
ENST00000428878HIPK2chr7139477404-ENST00000448866TBXAS1chr7139706891+836174174641155

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
ENST00000406875ENST00000425687HIPK2chr7139477403-TBXAS1chr7139706890+0.032400240.96759975
ENST00000406875ENST00000263552HIPK2chr7139477403-TBXAS1chr7139706890+0.0343903270.9656096
ENST00000406875ENST00000336425HIPK2chr7139477403-TBXAS1chr7139706890+0.0303943790.9696056
ENST00000406875ENST00000436047HIPK2chr7139477403-TBXAS1chr7139706890+0.0343903270.9656096
ENST00000406875ENST00000416849HIPK2chr7139477403-TBXAS1chr7139706890+0.0343903270.9656096
ENST00000406875ENST00000414508HIPK2chr7139477403-TBXAS1chr7139706890+0.10386080.89613914
ENST00000406875ENST00000448866HIPK2chr7139477403-TBXAS1chr7139706890+0.0303943790.9696056
ENST00000428878ENST00000425687HIPK2chr7139477403-TBXAS1chr7139706890+0.0311439950.968856
ENST00000428878ENST00000263552HIPK2chr7139477403-TBXAS1chr7139706890+0.029193950.97080606
ENST00000428878ENST00000336425HIPK2chr7139477403-TBXAS1chr7139706890+0.0289247950.97107524
ENST00000428878ENST00000436047HIPK2chr7139477403-TBXAS1chr7139706890+0.029193950.97080606
ENST00000428878ENST00000416849HIPK2chr7139477403-TBXAS1chr7139706890+0.029193950.97080606
ENST00000428878ENST00000414508HIPK2chr7139477403-TBXAS1chr7139706890+0.085139290.91486067
ENST00000428878ENST00000448866HIPK2chr7139477403-TBXAS1chr7139706890+0.0289247950.97107524
ENST00000406875ENST00000425687HIPK2chr7139477404-TBXAS1chr7139706891+0.032400240.96759975
ENST00000406875ENST00000263552HIPK2chr7139477404-TBXAS1chr7139706891+0.0343903270.9656096
ENST00000406875ENST00000336425HIPK2chr7139477404-TBXAS1chr7139706891+0.0303943790.9696056
ENST00000406875ENST00000436047HIPK2chr7139477404-TBXAS1chr7139706891+0.0343903270.9656096
ENST00000406875ENST00000416849HIPK2chr7139477404-TBXAS1chr7139706891+0.0343903270.9656096
ENST00000406875ENST00000414508HIPK2chr7139477404-TBXAS1chr7139706891+0.10386080.89613914
ENST00000406875ENST00000448866HIPK2chr7139477404-TBXAS1chr7139706891+0.0303943790.9696056
ENST00000428878ENST00000425687HIPK2chr7139477404-TBXAS1chr7139706891+0.0311439950.968856
ENST00000428878ENST00000263552HIPK2chr7139477404-TBXAS1chr7139706891+0.029193950.97080606
ENST00000428878ENST00000336425HIPK2chr7139477404-TBXAS1chr7139706891+0.0289247950.97107524
ENST00000428878ENST00000436047HIPK2chr7139477404-TBXAS1chr7139706891+0.029193950.97080606
ENST00000428878ENST00000416849HIPK2chr7139477404-TBXAS1chr7139706891+0.029193950.97080606
ENST00000428878ENST00000414508HIPK2chr7139477404-TBXAS1chr7139706891+0.085139290.91486067
ENST00000428878ENST00000448866HIPK2chr7139477404-TBXAS1chr7139706891+0.0289247950.97107524

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

Top

Fusion Protein Breakpoint Sequences for HIPK2-TBXAS1

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

Top

Potential FusionNeoAntigen Information of HIPK2-TBXAS1 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.

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)

Top

Potential FusionNeoAntigen Information of HIPK2-TBXAS1 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)

Top

Fusion breakpoint peptide structures of HIPK2-TBXAS1

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.

Top

Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of HIPK2-TBXAS1

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

Top

Vaccine Design for the FusionNeoAntigens of HIPK2-TBXAS1

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

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

Top

Information of the samples that have these potential fusion neoantigens of HIPK2-TBXAS1

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

Top

Potential target of CAR-T therapy development for HIPK2-TBXAS1

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
TgeneTBXAS1chr7:139477403chr7:139706890ENST000004256871015336_3560467.0TransmembraneHelical
TgeneTBXAS1chr7:139477404chr7:139706891ENST000004256871015336_3560467.0TransmembraneHelical

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

Top

Related Drugs to HIPK2-TBXAS1

check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to HIPK2-TBXAS1

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