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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:TBXAS1-SUZ12

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: TBXAS1-SUZ12
FusionPDB ID: 89625
FusionGDB2.0 ID: 89625
HgeneTgene
Gene symbol

TBXAS1

SUZ12

Gene ID

6916

23512

Gene namethromboxane A synthase 1SUZ12 polycomb repressive complex 2 subunit
SynonymsBDPLT14|CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXSCHET9|IMMAS|JJAZ1
Cytomap

7q34

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionthromboxane-A synthaseTXA synthasecytochrome P450 5A1cytochrome P450, family 5, subfamily A, polypeptide 1platelet, cytochrome P450, subfamily Vthromboxane A synthase 1 (platelet)polycomb protein SUZ12chET 9 proteinchromatin precipitated E2F target 9 proteinjoined to JAZF1 proteinsuppressor of zeste 12 protein homolog
Modification date2020032720200313
UniProtAcc.

Q15022

Main function of 5'-partner protein: FUNCTION: Polycomb group (PcG) protein. Component of the PRC2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:15231737, PubMed:15385962, PubMed:16618801, PubMed:17344414, PubMed:18285464, PubMed:28229514, PubMed:29499137, PubMed:31959557). The PRC2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems (PubMed:12435631, PubMed:12351676, PubMed:15385962, PubMed:15099518, PubMed:15225548, PubMed:15684044, PubMed:16431907, PubMed:18086877, PubMed:18285464). Genes repressed by the PRC2 complex include HOXC8, HOXA9, MYT1 and CDKN2A (PubMed:15231737, PubMed:16618801, PubMed:17200670, PubMed:31959557). {ECO:0000269|PubMed:12351676, ECO:0000269|PubMed:12435631, ECO:0000269|PubMed:15099518, ECO:0000269|PubMed:15225548, ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:15385962, ECO:0000269|PubMed:15684044, ECO:0000269|PubMed:16431907, ECO:0000269|PubMed:16618801, ECO:0000269|PubMed:17200670, ECO:0000269|PubMed:17344414, ECO:0000269|PubMed:18086877, ECO:0000269|PubMed:18285464, ECO:0000269|PubMed:28229514, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}.
Ensembl transtripts involved in fusion geneENST idsENST00000263552, ENST00000336425, 
ENST00000411653, ENST00000414508, 
ENST00000416849, ENST00000425687, 
ENST00000436047, ENST00000448866, 
ENST00000455353, ENST00000458722, 
ENST00000539806, ENST00000462275, 
ENST00000322652, ENST00000580398, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 3 X 2=1810 X 8 X 5=400
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/400*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: TBXAS1 [Title/Abstract] AND SUZ12 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: TBXAS1 [Title/Abstract] AND SUZ12 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)TBXAS1(139575436)-SUZ12(30293166), # samples:1
Anticipated loss of major functional domain due to fusion event.TBXAS1-SUZ12 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.
TBXAS1-SUZ12 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.
TBXAS1-SUZ12 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.
TBXAS1-SUZ12 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


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/chr7:139575436/chr17:30293166)
- 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 TBXAS1 (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 SUZ12 (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)
ENST00000425687TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+43315244022288628
ENST00000425687TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+39355244022288628
ENST00000263552TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+45847775382541667
ENST00000263552TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+41887775382541667
ENST00000336425TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+44326253862389667
ENST00000336425TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+40366253862389667
ENST00000436047TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+42814742352238667
ENST00000436047TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+38854742352238667
ENST00000416849TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+42814742352238667
ENST00000416849TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+38854742352238667
ENST00000414508TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+42814742352238667
ENST00000414508TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+38854742352238667
ENST00000448866TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+42104031642167667
ENST00000448866TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+38144031642167667
ENST00000455353TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+41803731342137667
ENST00000455353TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+37843731342137667
ENST00000458722TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+41803731342137667
ENST00000458722TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+37843731342137667
ENST00000411653TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+41703631242127667
ENST00000411653TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+37743631242127667
ENST00000539806TBXAS1chr7139575436+ENST00000322652SUZ12chr1730293166+4123316772080667
ENST00000539806TBXAS1chr7139575436+ENST00000580398SUZ12chr1730293166+3727316772080667

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
ENST00000425687ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+7.00E-050.99993
ENST00000425687ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+8.53E-050.99991477
ENST00000263552ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005005780.99949944
ENST00000263552ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005531950.9994468
ENST00000336425ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005368220.99946314
ENST00000336425ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005833980.9994166
ENST00000436047ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005292720.9994708
ENST00000436047ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005633670.99943656
ENST00000416849ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005292720.9994708
ENST00000416849ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005633670.99943656
ENST00000414508ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005292720.9994708
ENST00000414508ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005633670.99943656
ENST00000448866ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005394870.9994605
ENST00000448866ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005884950.99941146
ENST00000455353ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005235440.9994765
ENST00000455353ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005743550.99942565
ENST00000458722ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005235440.9994765
ENST00000458722ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005743550.99942565
ENST00000411653ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005292010.9994708
ENST00000411653ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005841170.9994159
ENST00000539806ENST00000322652TBXAS1chr7139575436+SUZ12chr1730293166+0.0005408680.9994591
ENST00000539806ENST00000580398TBXAS1chr7139575436+SUZ12chr1730293166+0.0005943750.9994056

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 TBXAS1-SUZ12

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
TBXAS1chr7139575436SUZ12chr173029316631680QMELRKLYGPLCGLSAHLQLTFTGFF
TBXAS1chr7139575436SUZ12chr173029316636380QMELRKLYGPLCGLSAHLQLTFTGFF
TBXAS1chr7139575436SUZ12chr173029316637380QMELRKLYGPLCGLSAHLQLTFTGFF
TBXAS1chr7139575436SUZ12chr173029316640380QMELRKLYGPLCGLSAHLQLTFTGFF
TBXAS1chr7139575436SUZ12chr173029316647480QMELRKLYGPLCGLSAHLQLTFTGFF
TBXAS1chr7139575436SUZ12chr173029316652441QMELRKLYGPLCGLSAHLQLTFTGFF
TBXAS1chr7139575436SUZ12chr173029316662580QMELRKLYGPLCGLSAHLQLTFTGFF
TBXAS1chr7139575436SUZ12chr173029316677780QMELRKLYGPLCGLSAHLQLTFTGFF

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Potential FusionNeoAntigen Information of TBXAS1-SUZ12 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.
TBXAS1-SUZ12_139575436_30293166.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)
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:22KLYGPLCGL0.99130.7413514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:13KLYGPLCGL0.98810.882514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:11KLYGPLCGL0.9880.7662514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:60KLYGPLCGL0.98620.7494514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:30KLYGPLCGL0.98610.7503514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:67KLYGPLCGL0.98610.7503514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:24KLYGPLCGL0.98610.7503514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:27KLYGPLCGL0.98580.7972514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:16KLYGPLCGL0.98490.7518514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:21KLYGPLCGL0.98230.8121514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:04KLYGPLCGL0.9820.8664514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:17KLYGPLCGL0.98180.8223514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:38KLYGPLCGL0.97760.8437514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:35KLYGPLCGL0.94890.7729514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:19KLYGPLCGL0.93180.6809514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:29KLYGPLCGL0.89090.7516514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:20KLYGPLCGL0.85330.758514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B48:01KLYGPLCGL0.12730.7503514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B13:01KLYGPLCGL0.08210.9976514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B13:02KLYGPLCGL0.06250.9113514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B57:03GLSAHLQLTF0.98080.99361222
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B81:01GPLCGLSAHL0.58480.7036818
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:13KLYGPLCGLSA0.99730.8821516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:60KLYGPLCGLSA0.99430.7501516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:27KLYGPLCGLSA0.99420.8144516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:11KLYGPLCGLSA0.99410.7326516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:30KLYGPLCGLSA0.9940.7171516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:24KLYGPLCGLSA0.9940.7171516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:67KLYGPLCGLSA0.9940.7171516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:04KLYGPLCGLSA0.99070.899516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:16KLYGPLCGLSA0.99020.6648516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:35KLYGPLCGLSA0.96160.7458516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:29KLYGPLCGLSA0.94120.7263516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:20KLYGPLCGLSA0.92090.727516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:02KLYGPLCGL0.9920.5954514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:05KLYGPLCGL0.9910.6965514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:07KLYGPLCGL0.98630.7735514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:01KLYGPLCGL0.98610.7503514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B15:04KLYGPLCGL0.91650.9808514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:01KLYGPLCGLSA0.9940.7171516
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:03KLYGPLCGL0.99270.8387514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:14KLYGPLCGL0.98240.7828514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:06KLYGPLCGL0.98230.8121514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A32:01KLYGPLCGL0.98040.9937514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B15:73KLYGPLCGL0.86190.9927514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B15:30KLYGPLCGL0.71370.9754514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B40:21KLYGPLCGL0.04860.7426514
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B57:04GLSAHLQLTF0.99220.79291222
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-B57:02GLSAHLQLTF0.97470.97011222
TBXAS1-SUZ12chr7139575436chr1730293166777HLA-A02:03KLYGPLCGLSA0.99720.8498516

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Potential FusionNeoAntigen Information of TBXAS1-SUZ12 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 TBXAS1-SUZ12

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
5830LYGPLCGLSAHLQLTBXAS1SUZ12chr7139575436chr1730293166777

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of TBXAS1-SUZ12

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-B14:023BVN5830LYGPLCGLSAHLQL-7.9962-8.1096
HLA-B14:023BVN5830LYGPLCGLSAHLQL-5.70842-6.74372
HLA-B52:013W395830LYGPLCGLSAHLQL-6.83737-6.95077
HLA-B52:013W395830LYGPLCGLSAHLQL-4.4836-5.5189
HLA-A11:014UQ25830LYGPLCGLSAHLQL-10.0067-10.1201
HLA-A11:014UQ25830LYGPLCGLSAHLQL-9.03915-10.0745
HLA-A24:025HGA5830LYGPLCGLSAHLQL-6.56204-6.67544
HLA-A24:025HGA5830LYGPLCGLSAHLQL-5.42271-6.45801
HLA-B44:053DX85830LYGPLCGLSAHLQL-7.85648-8.89178
HLA-B44:053DX85830LYGPLCGLSAHLQL-5.3978-5.5112
HLA-A02:016TDR5830LYGPLCGLSAHLQL-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of TBXAS1-SUZ12

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
TBXAS1-SUZ12chr7139575436chr17302931661222GLSAHLQLTFTGGCTTGTCAGCTCATTTGCAGCTTACGTT
TBXAS1-SUZ12chr7139575436chr1730293166514KLYGPLCGLAAAGCTGTATGGACCTCTGTGTGGCTT
TBXAS1-SUZ12chr7139575436chr1730293166516KLYGPLCGLSAAAAGCTGTATGGACCTCTGTGTGGCTTGTCAGC
TBXAS1-SUZ12chr7139575436chr1730293166818GPLCGLSAHLTGGACCTCTGTGTGGCTTGTCAGCTCATTT

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 TBXAS1-SUZ12

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
STADTBXAS1-SUZ12chr7139575436ENST00000263552chr1730293166ENST00000322652TCGA-HU-A4GJ-01A

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Potential target of CAR-T therapy development for TBXAS1-SUZ12

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
HgeneTBXAS1chr7:139575436chr17:30293166ENST00000263552+71711_3179535.0TransmembraneHelical
HgeneTBXAS1chr7:139575436chr17:30293166ENST00000336425+71711_3178534.0TransmembraneHelical
HgeneTBXAS1chr7:139575436chr17:30293166ENST00000436047+31311_3179535.0TransmembraneHelical
HgeneTBXAS1chr7:139575436chr17:30293166ENST00000448866+31311_3178534.0TransmembraneHelical

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

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Related Drugs to TBXAS1-SUZ12

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 TBXAS1-SUZ12

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
TgeneSUZ12C0206727Nerve Sheath Tumors2CTD_human
TgeneSUZ12C0751689Peripheral Nerve Sheath Neoplasm2CTD_human
TgeneSUZ12C0751691Perineurioma2CTD_human
TgeneSUZ12C0001430Adenoma1CTD_human
TgeneSUZ12C0014170Endometrial Neoplasms1CTD_human
TgeneSUZ12C0017636Glioblastoma1CTD_human
TgeneSUZ12C0017638Glioma1CTD_human
TgeneSUZ12C0025202melanoma1CTD_human
TgeneSUZ12C0027809Neurilemmoma1CTD_human
TgeneSUZ12C0027830neurofibroma1CTD_human
TgeneSUZ12C0027962Melanocytic nevus1CTD_human
TgeneSUZ12C0042063Urogenital Abnormalities1GENOMICS_ENGLAND
TgeneSUZ12C0205646Adenoma, Basal Cell1CTD_human
TgeneSUZ12C0205647Follicular adenoma1CTD_human
TgeneSUZ12C0205648Adenoma, Microcystic1CTD_human
TgeneSUZ12C0205649Adenoma, Monomorphic1CTD_human
TgeneSUZ12C0205650Papillary adenoma1CTD_human
TgeneSUZ12C0205651Adenoma, Trabecular1CTD_human
TgeneSUZ12C0206630Endometrial Stromal Sarcoma1ORPHANET
TgeneSUZ12C0259783mixed gliomas1CTD_human
TgeneSUZ12C0265210Weaver syndrome1ORPHANET
TgeneSUZ12C0334588Giant Cell Glioblastoma1CTD_human
TgeneSUZ12C0476089Endometrial Carcinoma1CTD_human
TgeneSUZ12C0545053Advanced bone age1GENOMICS_ENGLAND
TgeneSUZ12C0555198Malignant Glioma1CTD_human
TgeneSUZ12C0557874Global developmental delay1GENOMICS_ENGLAND
TgeneSUZ12C0751374Schwannomatosis, Plexiform1CTD_human
TgeneSUZ12C1621958Glioblastoma Multiforme1CTD_human
TgeneSUZ12C1842581Abnormal corpus callosum morphology1GENOMICS_ENGLAND
TgeneSUZ12C1849265Overgrowth1GENOMICS_ENGLAND
TgeneSUZ12C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneSUZ12C4018871Abnormality of the respiratory system1GENOMICS_ENGLAND
TgeneSUZ12C4021664Abnormality of the abdominal wall1GENOMICS_ENGLAND
TgeneSUZ12C4021790Abnormality of the skeletal system1GENOMICS_ENGLAND