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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:SFTPC-FBRSL1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SFTPC-FBRSL1
FusionPDB ID: 81208
FusionGDB2.0 ID: 81208
HgeneTgene
Gene symbol

SFTPC

FBRSL1

Gene ID

6440

57666

Gene namesurfactant protein Cfibrosin like 1
SynonymsBRICD6|PSP-C|SFTP2|SMDP2|SP-C|SP5-
Cytomap

8p21.3

12q24.33

Type of geneprotein-codingprotein-coding
Descriptionpulmonary surfactant-associated protein CBRICHOS domain containing 6pulmonary surfactant apoprotein-2 SP-Cpulmonary surfactant-associated proteolipid SPL(Val)fibrosin-1-like proteinAUTS2-like proteinHBV X-transactivated gene 9 proteinHBV XAg-transactivated protein 9
Modification date2020032920200313
UniProtAcc.

Q9HCM7

Main function of 5'-partner protein:
Ensembl transtripts involved in fusion geneENST idsENST00000318561, ENST00000437090, 
ENST00000521315, ENST00000522109, 
ENST00000520605, ENST00000522880, 
ENST00000524255, 
ENST00000542061, 
ENST00000261673, ENST00000434748, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 7 X 4=2529 X 9 X 8=648
# samples 99
** MAII scorelog2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/648*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SFTPC [Title/Abstract] AND FBRSL1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SFTPC [Title/Abstract] AND FBRSL1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SFTPC(22020204)-FBRSL1(133160276), # samples:1
Anticipated loss of major functional domain due to fusion event.SFTPC-FBRSL1 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.
SFTPC-FBRSL1 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.
SFTPC-FBRSL1 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.
SFTPC-FBRSL1 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/chr8:22020204/chr12:133160276)
- 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 SFTPC (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 FBRSL1 (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)
ENST00000318561SFTPCchr822020204+ENST00000434748FBRSL1chr12133160276+175525710301374114
ENST00000318561SFTPCchr822020204+ENST00000261673FBRSL1chr12133160276+34525716434360
ENST00000521315SFTPCchr822020204+ENST00000434748FBRSL1chr12133160276+16131158881232114
ENST00000521315SFTPCchr822020204+ENST00000261673FBRSL1chr12133160276+2031152220160
ENST00000437090SFTPCchr822020204+ENST00000434748FBRSL1chr12133160276+16121148871231114
ENST00000522109SFTPCchr822020204+ENST00000434748FBRSL1chr12133160276+16051078801224114
ENST00000522109SFTPCchr822020204+ENST00000261673FBRSL1chr12133160276+1951071419360

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
ENST00000318561ENST00000434748SFTPCchr822020204+FBRSL1chr12133160276+0.954651950.045347977
ENST00000318561ENST00000261673SFTPCchr822020204+FBRSL1chr12133160276+0.76733380.23266618
ENST00000521315ENST00000434748SFTPCchr822020204+FBRSL1chr12133160276+0.92205610.07794393
ENST00000521315ENST00000261673SFTPCchr822020204+FBRSL1chr12133160276+0.48434380.5156562
ENST00000437090ENST00000434748SFTPCchr822020204+FBRSL1chr12133160276+0.926592950.07340709
ENST00000437090ENST00000261673SFTPCchr822020204+FBRSL1chr12133160276+0.47304160.5269584
ENST00000522109ENST00000434748SFTPCchr822020204+FBRSL1chr12133160276+0.8857370.11426293
ENST00000522109ENST00000261673SFTPCchr822020204+FBRSL1chr12133160276+0.445165930.55483407

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 SFTPC-FBRSL1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SFTPCchr822020204FBRSL1chr1213316027610731LMGLHMSQKHTEMPDYSAGGPRAGRG
SFTPCchr822020204FBRSL1chr1213316027611531LMGLHMSQKHTEMPDYSAGGPRAGRG
SFTPCchr822020204FBRSL1chr1213316027625731LMGLHMSQKHTEMPDYSAGGPRAGRG

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Potential FusionNeoAntigen Information of SFTPC-FBRSL1 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.
SFTPC-FBRSL1_22020204_133160276.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)
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B50:02TEMPDYSA0.99980.68611018
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B45:01TEMPDYSA0.99920.98051018
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B41:01TEMPDYSA0.89230.97981018
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B50:01TEMPDYSA0.87940.77171018
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:03QKHTEMPDY0.24610.6203716
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:01SQKHTEMPDY0.99980.7724616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:25SQKHTEMPDY0.97660.8076616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B39:06KHTEMPDYSA0.97210.8051818
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B56:01MPDYSAGGPRA0.99930.89391223
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B40:06TEMPDYSA0.99990.69531018
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:07SQKHTEMPDY0.99790.5314616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:04SQKHTEMPDY0.99280.7917616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B54:01MPDYSAGGPRA0.99990.95231223
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B50:05TEMPDYSA0.87940.77171018
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B50:04TEMPDYSA0.87940.77171018
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:54QKHTEMPDY0.04260.6451716
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:33SQKHTEMPDY0.99980.7724616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:135SQKHTEMPDY0.99980.7873616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:125SQKHTEMPDY0.99980.7724616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:27SQKHTEMPDY0.99980.7822616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:34SQKHTEMPDY0.99980.7724616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:50SQKHTEMPDY0.99960.8253616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:53SQKHTEMPDY0.99830.7433616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:35SQKHTEMPDY0.99720.7586616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:12SQKHTEMPDY0.9970.82616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:39SQKHTEMPDY0.9780.7274616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B15:54SQKHTEMPDY0.97030.6983616
SFTPC-FBRSL1chr822020204chr12133160276257HLA-B55:02MPDYSAGGPRA0.99860.89331223

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Potential FusionNeoAntigen Information of SFTPC-FBRSL1 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.
SFTPC-FBRSL1_22020204_133160276.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)
SFTPC-FBRSL1chr822020204chr12133160276257DRB1-1332LMGLHMSQKHTEMPD015
SFTPC-FBRSL1chr822020204chr12133160276257DRB1-1338LMGLHMSQKHTEMPD015
SFTPC-FBRSL1chr822020204chr12133160276257DRB1-1348LMGLHMSQKHTEMPD015
SFTPC-FBRSL1chr822020204chr12133160276257DRB1-1365LMGLHMSQKHTEMPD015
SFTPC-FBRSL1chr822020204chr12133160276257DRB1-1381LMGLHMSQKHTEMPD015
SFTPC-FBRSL1chr822020204chr12133160276257DRB1-1389LMGLHMSQKHTEMPD015

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Fusion breakpoint peptide structures of SFTPC-FBRSL1

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
8920SQKHTEMPDYSAGGSFTPCFBRSL1chr822020204chr12133160276257

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SFTPC-FBRSL1

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-B14:023BVN8920SQKHTEMPDYSAGG-7.9962-8.1096
HLA-B14:023BVN8920SQKHTEMPDYSAGG-5.70842-6.74372
HLA-B52:013W398920SQKHTEMPDYSAGG-6.83737-6.95077
HLA-B52:013W398920SQKHTEMPDYSAGG-4.4836-5.5189
HLA-A11:014UQ28920SQKHTEMPDYSAGG-10.0067-10.1201
HLA-A11:014UQ28920SQKHTEMPDYSAGG-9.03915-10.0745
HLA-A24:025HGA8920SQKHTEMPDYSAGG-6.56204-6.67544
HLA-A24:025HGA8920SQKHTEMPDYSAGG-5.42271-6.45801
HLA-B44:053DX88920SQKHTEMPDYSAGG-7.85648-8.89178
HLA-B44:053DX88920SQKHTEMPDYSAGG-5.3978-5.5112
HLA-A02:016TDR8920SQKHTEMPDYSAGG-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of SFTPC-FBRSL1

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
SFTPC-FBRSL1chr822020204chr121331602761018TEMPDYSAACGGAGATGCCGGACTACTCCGCT
SFTPC-FBRSL1chr822020204chr121331602761223MPDYSAGGPRAATGCCGGACTACTCCGCTGGGGGGCCTCGGGCC
SFTPC-FBRSL1chr822020204chr12133160276616SQKHTEMPDYAGCCAGAAACACACGGAGATGCCGGACTAC
SFTPC-FBRSL1chr822020204chr12133160276716QKHTEMPDYCAGAAACACACGGAGATGCCGGACTAC
SFTPC-FBRSL1chr822020204chr12133160276818KHTEMPDYSAAAACACACGGAGATGCCGGACTACTCCGCT

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
SFTPC-FBRSL1chr822020204chr12133160276015LMGLHMSQKHTEMPDCTCATGGGTCTCCACATGAGCCAGAAACACACGGAGATGCCGGAC

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Information of the samples that have these potential fusion neoantigens of SFTPC-FBRSL1

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
Non-CancerSFTPC-FBRSL1chr822020204ENST00000318561chr12133160276ENST00000261673TCGA-44-2662-11A

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Potential target of CAR-T therapy development for SFTPC-FBRSL1

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 SFTPC-FBRSL1

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 SFTPC-FBRSL1

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