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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:SLC36A1-IFNGR1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SLC36A1-IFNGR1
FusionPDB ID: 83042
FusionGDB2.0 ID: 83042
HgeneTgene
Gene symbol

SLC36A1

IFNGR1

Gene ID

206358

3459

Gene namesolute carrier family 36 member 1interferon gamma receptor 1
SynonymsDct1|LYAAT1|PAT1|TRAMD3CD119|IFNGR|IMD27A|IMD27B
Cytomap

5q33.1

6q23.3

Type of geneprotein-codingprotein-coding
Descriptionproton-coupled amino acid transporter 1lysosomal amino acid transporter 1proton/amino acid transporter 1solute carrier family 36 (proton/amino acid symporter), member 1interferon gamma receptor 1AVP, type 2CD119 antigenCDw119IFN-gamma receptor 1IFN-gamma-R-alphaIFN-gamma-R1antiviral protein, type 2immune interferon receptor 1interferon-gamma receptor alpha chain
Modification date2020031320200313
UniProtAcc.

P15260

Main function of 5'-partner protein: FUNCTION: Associates with IFNGR2 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:2971451, PubMed:7617032, PubMed:10986460). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:7673114). Plays an essential role in the IFN-gamma pathway that is required for the cellular response to infectious agents (PubMed:20015550). {ECO:0000269|PubMed:10986460, ECO:0000269|PubMed:20015550, ECO:0000269|PubMed:2971451, ECO:0000269|PubMed:7615558, ECO:0000269|PubMed:7617032, ECO:0000269|PubMed:7673114}.
Ensembl transtripts involved in fusion geneENST idsENST00000243389, ENST00000520701, 
ENST00000521925, ENST00000429484, 
ENST00000521351, 
ENST00000478333, 
ENST00000367735, ENST00000367739, 
ENST00000543628, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 4 X 5=1007 X 5 X 4=140
# samples 59
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/140*10)=-0.637429920615292
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SLC36A1 [Title/Abstract] AND IFNGR1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SLC36A1 [Title/Abstract] AND IFNGR1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SLC36A1(150859050)-IFNGR1(137528214), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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/chr5:150859050/chr6:137528214)
- 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 SLC36A1 (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 IFNGR1 (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)
ENST00000520701SLC36A1chr5150859050+ENST00000367739IFNGR1chr6137528214-322912971292681850
ENST00000520701SLC36A1chr5150859050+ENST00000543628IFNGR1chr6137528214-288112971292681850
ENST00000520701SLC36A1chr5150859050+ENST00000367735IFNGR1chr6137528214-194212971291802557
ENST00000243389SLC36A1chr5150859050+ENST00000367739IFNGR1chr6137528214-331413821452766873
ENST00000243389SLC36A1chr5150859050+ENST00000543628IFNGR1chr6137528214-296613821452766873
ENST00000243389SLC36A1chr5150859050+ENST00000367735IFNGR1chr6137528214-202713821451887580
ENST00000521925SLC36A1chr5150859050+ENST00000367739IFNGR1chr6137528214-3383145114172835472
ENST00000521925SLC36A1chr5150859050+ENST00000543628IFNGR1chr6137528214-3035145114172835472
ENST00000521925SLC36A1chr5150859050+ENST00000367735IFNGR1chr6137528214-209614511141184356

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
ENST00000520701ENST00000367739SLC36A1chr5150859050+IFNGR1chr6137528214-0.0005742440.99942577
ENST00000520701ENST00000543628SLC36A1chr5150859050+IFNGR1chr6137528214-0.0007429970.999257
ENST00000520701ENST00000367735SLC36A1chr5150859050+IFNGR1chr6137528214-0.0033635770.9966364
ENST00000243389ENST00000367739SLC36A1chr5150859050+IFNGR1chr6137528214-0.0006632120.9993368
ENST00000243389ENST00000543628SLC36A1chr5150859050+IFNGR1chr6137528214-0.0008558310.9991442
ENST00000243389ENST00000367735SLC36A1chr5150859050+IFNGR1chr6137528214-0.004576820.99542314
ENST00000521925ENST00000367739SLC36A1chr5150859050+IFNGR1chr6137528214-0.0003312630.9996687
ENST00000521925ENST00000543628SLC36A1chr5150859050+IFNGR1chr6137528214-0.0004377870.9995622
ENST00000521925ENST00000367735SLC36A1chr5150859050+IFNGR1chr6137528214-0.0073158980.9926842

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 SLC36A1-IFNGR1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SLC36A1chr5150859050IFNGR1chr61375282141297387LVVDLFVRTVLVCLTLPTPTNVTIES
SLC36A1chr5150859050IFNGR1chr61375282141382410LVVDLFVRTVLVCLTLPTPTNVTIES

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Potential FusionNeoAntigen Information of SLC36A1-IFNGR1 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)

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Potential FusionNeoAntigen Information of SLC36A1-IFNGR1 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 SLC36A1-IFNGR1

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.

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SLC36A1-IFNGR1

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

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Vaccine Design for the FusionNeoAntigens of SLC36A1-IFNGR1

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

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Information of the samples that have these potential fusion neoantigens of SLC36A1-IFNGR1

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

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Potential target of CAR-T therapy development for SLC36A1-IFNGR1

check button Predicted 3D structure. We used RoseTTAFold.
443_SLC36A1-IFNGR1_cb520_pred.pdb


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
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000243389+1011142_162386477.0TransmembraneHelical%3B Name%3D3
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000243389+1011191_211386477.0TransmembraneHelical%3B Name%3D4
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000243389+1011216_236386477.0TransmembraneHelical%3B Name%3D5
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000243389+1011258_278386477.0TransmembraneHelical%3B Name%3D6
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000243389+1011290_310386477.0TransmembraneHelical%3B Name%3D7
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000243389+1011343_363386477.0TransmembraneHelical%3B Name%3D8
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000243389+101152_72386477.0TransmembraneHelical%3B Name%3D1
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000243389+101179_99386477.0TransmembraneHelical%3B Name%3D2
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000520701+1011142_162386477.0TransmembraneHelical%3B Name%3D3
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000520701+1011191_211386477.0TransmembraneHelical%3B Name%3D4
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000520701+1011216_236386477.0TransmembraneHelical%3B Name%3D5
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000520701+1011258_278386477.0TransmembraneHelical%3B Name%3D6
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000520701+1011290_310386477.0TransmembraneHelical%3B Name%3D7
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000520701+1011343_363386477.0TransmembraneHelical%3B Name%3D8
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000520701+101152_72386477.0TransmembraneHelical%3B Name%3D1
HgeneSLC36A1chr5:150859050chr6:137528214ENST00000520701+101179_99386477.0TransmembraneHelical%3B Name%3D2
TgeneIFNGR1chr5:150859050chr6:137528214ENST0000036773907246_2660490.0TransmembraneHelical

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
SLC36A1chr5150859050ENST00000243389IFNGR1chr6137528214ENST00000367735
SLC36A1chr5150859050ENST00000243389IFNGR1chr6137528214ENST00000367739
SLC36A1chr5150859050ENST00000520701IFNGR1chr6137528214ENST00000367735
SLC36A1chr5150859050ENST00000520701IFNGR1chr6137528214ENST00000367739
SLC36A1chr5150859050ENST00000521925IFNGR1chr6137528214ENST00000367735
SLC36A1chr5150859050ENST00000521925IFNGR1chr6137528214ENST00000367739

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Related Drugs to SLC36A1-IFNGR1

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 SLC36A1-IFNGR1

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