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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:SF3B1-SATB2

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SF3B1-SATB2
FusionPDB ID: 81049
FusionGDB2.0 ID: 81049
HgeneTgene
Gene symbol

SF3B1

SATB2

Gene ID

23451

23314

Gene namesplicing factor 3b subunit 1SATB homeobox 2
SynonymsHsh155|MDS|PRP10|PRPF10|SAP155|SF3b155GLSS
Cytomap

2q33.1

2q33.1

Type of geneprotein-codingprotein-coding
Descriptionsplicing factor 3B subunit 1pre-mRNA processing 10pre-mRNA splicing factor SF3b, 155 kDa subunitspliceosome-associated protein 155splicing factor 3b, subunit 1, 155kDaDNA-binding protein SATB2SATB family member 2special AT-rich sequence-binding protein 2
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000409915, ENST00000335508, 
ENST00000414963, ENST00000462613, 
ENST00000487698, 
ENST00000260926, 
ENST00000417098, ENST00000428695, 
ENST00000443023, ENST00000457245, 
ENST00000484124, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 12 X 3=2884 X 6 X 3=72
# samples 137
** MAII scorelog2(13/288*10)=-1.14755718841386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SF3B1 [Title/Abstract] AND SATB2 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SF3B1 [Title/Abstract] AND SATB2 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SF3B1(198283233)-SATB2(200173680), # samples:1
SF3B1(198283232)-SATB2(200173680), # samples:1
Anticipated loss of major functional domain due to fusion event.SF3B1-SATB2 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.
SF3B1-SATB2 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.
SF3B1-SATB2 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.
SF3B1-SATB2 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
HgeneSF3B1

GO:0000398

mRNA splicing, via spliceosome

11252167|28781166|29360106



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/chr2:198283233/chr2:200173680)
- 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 SF3B1 (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 SATB2 (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)
ENST00000335508SF3B1chr2198283233-ENST00000417098SATB2chr2200173680-3958587711246391
ENST00000335508SF3B1chr2198283233-ENST00000443023SATB2chr2200173680-3950587711246391
ENST00000335508SF3B1chr2198283233-ENST00000260926SATB2chr2200173680-3950587711246391
ENST00000335508SF3B1chr2198283233-ENST00000428695SATB2chr2200173680-1483587711246391
ENST00000335508SF3B1chr2198283233-ENST00000457245SATB2chr2200173680-1308587711246391
ENST00000335508SF3B1chr2198283232-ENST00000417098SATB2chr2200173680-3958587711246391
ENST00000335508SF3B1chr2198283232-ENST00000443023SATB2chr2200173680-3950587711246391
ENST00000335508SF3B1chr2198283232-ENST00000260926SATB2chr2200173680-3950587711246391
ENST00000335508SF3B1chr2198283232-ENST00000428695SATB2chr2200173680-1483587711246391
ENST00000335508SF3B1chr2198283232-ENST00000457245SATB2chr2200173680-1308587711246391

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
ENST00000335508ENST00000417098SF3B1chr2198283233-SATB2chr2200173680-0.0001931980.9998068
ENST00000335508ENST00000443023SF3B1chr2198283233-SATB2chr2200173680-0.0001926980.9998073
ENST00000335508ENST00000260926SF3B1chr2198283233-SATB2chr2200173680-0.0001926980.9998073
ENST00000335508ENST00000428695SF3B1chr2198283233-SATB2chr2200173680-0.0022070710.99779296
ENST00000335508ENST00000457245SF3B1chr2198283233-SATB2chr2200173680-0.0037471720.9962528
ENST00000335508ENST00000417098SF3B1chr2198283232-SATB2chr2200173680-0.0001931980.9998068
ENST00000335508ENST00000443023SF3B1chr2198283232-SATB2chr2200173680-0.0001926980.9998073
ENST00000335508ENST00000260926SF3B1chr2198283232-SATB2chr2200173680-0.0001926980.9998073
ENST00000335508ENST00000428695SF3B1chr2198283232-SATB2chr2200173680-0.0022070710.99779296
ENST00000335508ENST00000457245SF3B1chr2198283232-SATB2chr2200173680-0.0037471720.9962528

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 SF3B1-SATB2

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SF3B1chr2198283232SATB2chr2200173680587172MDVMREQHLTKEEGWLCELLRWKENP
SF3B1chr2198283233SATB2chr2200173680587172MDVMREQHLTKEEGWLCELLRWKENP

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Potential FusionNeoAntigen Information of SF3B1-SATB2 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.
SF3B1-SATB2_198283232_200173680.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)
SF3B1-SATB2chr2198283232chr2200173680587HLA-B47:01KEEGWLCEL0.76610.79371019
SF3B1-SATB2chr2198283232chr2200173680587HLA-B38:01QHLTKEEGW0.48050.9714615
SF3B1-SATB2chr2198283232chr2200173680587HLA-B39:13KEEGWLCEL0.41140.98581019
SF3B1-SATB2chr2198283232chr2200173680587HLA-B38:02QHLTKEEGW0.39930.9744615
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:03REQHLTKEEGW0.99970.9505415
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:05REQHLTKEEGW0.99950.5472415
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:03EEGWLCELLRW0.99940.99211122
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:02EEGWLCELLRW0.99930.86321122
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:10KEEGWLCEL0.97620.55251019
SF3B1-SATB2chr2198283232chr2200173680587HLA-B39:08KEEGWLCEL0.47650.91051019
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:08REQHLTKEEGW0.99980.5139415
SF3B1-SATB2chr2198283232chr2200173680587HLA-B40:04KEEGWLCEL0.99590.80761019
SF3B1-SATB2chr2198283232chr2200173680587HLA-B38:05QHLTKEEGW0.48050.9714615
SF3B1-SATB2chr2198283232chr2200173680587HLA-B39:02KEEGWLCEL0.41520.98651019
SF3B1-SATB2chr2198283232chr2200173680587HLA-B41:03KEEGWLCEL0.37810.65951019
SF3B1-SATB2chr2198283232chr2200173680587HLA-B15:13EQHLTKEEGW0.82160.6765515
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:26REQHLTKEEGW0.99970.9505415
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:13REQHLTKEEGW0.99970.9505415
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:07REQHLTKEEGW0.99970.9505415
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:13EEGWLCELLRW0.99940.99211122
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:26EEGWLCELLRW0.99940.99211122
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:07EEGWLCELLRW0.99940.99211122
SF3B1-SATB2chr2198283232chr2200173680587HLA-B44:22EEGWLCELLRW0.99930.86321122

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Potential FusionNeoAntigen Information of SF3B1-SATB2 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 SF3B1-SATB2

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
7303QHLTKEEGWLCELLSF3B1SATB2chr2198283232chr2200173680587

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SF3B1-SATB2

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-B14:023BVN7303QHLTKEEGWLCELL-7.59165-7.70505
HLA-B14:023BVN7303QHLTKEEGWLCELL-3.47824-4.51354
HLA-B52:013W397303QHLTKEEGWLCELL-7.37668-7.49008
HLA-B52:013W397303QHLTKEEGWLCELL-5.29998-6.33528
HLA-A11:014UQ27303QHLTKEEGWLCELL-9.18467-9.29807
HLA-A11:014UQ27303QHLTKEEGWLCELL-6.58703-7.62233
HLA-A24:025HGA7303QHLTKEEGWLCELL-9.25414-10.2894
HLA-A24:025HGA7303QHLTKEEGWLCELL-8.63344-8.74684
HLA-B27:056PYJ7303QHLTKEEGWLCELL-8.01519-8.12859
HLA-B44:053DX87303QHLTKEEGWLCELL-4.60406-4.71746
HLA-B44:053DX87303QHLTKEEGWLCELL-4.17349-5.20879

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Vaccine Design for the FusionNeoAntigens of SF3B1-SATB2

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
SF3B1-SATB2chr2198283232chr22001736801019KEEGWLCELAAAGAAGAAGGCTGGCTGTGTGAACTG
SF3B1-SATB2chr2198283232chr22001736801122EEGWLCELLRWGAAGAAGGCTGGCTGTGTGAACTGCTCCGCTGG
SF3B1-SATB2chr2198283232chr2200173680415REQHLTKEEGWCGAGAACAACACTTGACTAAAGAAGAAGGCTGG
SF3B1-SATB2chr2198283232chr2200173680515EQHLTKEEGWGAACAACACTTGACTAAAGAAGAAGGCTGG
SF3B1-SATB2chr2198283232chr2200173680615QHLTKEEGWCAACACTTGACTAAAGAAGAAGGCTGG

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 SF3B1-SATB2

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
STADSF3B1-SATB2chr2198283232ENST00000335508chr2200173680ENST00000260926TCGA-VQ-A92D

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Potential target of CAR-T therapy development for SF3B1-SATB2

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 SF3B1-SATB2

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 SF3B1-SATB2

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