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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:FGFR2-SMN1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FGFR2-SMN1
FusionPDB ID: 30294
FusionGDB2.0 ID: 30294
HgeneTgene
Gene symbol

FGFR2

SMN1

Gene ID

2263

6606

Gene namefibroblast growth factor receptor 2survival of motor neuron 1, telomeric
SynonymsBBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25BCD541|GEMIN1|SMA|SMA1|SMA2|SMA3|SMA4|SMA@|SMN|SMNT|T-BCD541|TDRD16A
Cytomap

10q26.13

5q13.2

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 2BEK fibroblast growth factor receptorbacteria-expressed kinasekeratinocyte growth factor receptorprotein tyrosine kinase, receptor like 14survival motor neuron proteincomponent of gems 1gemin-1survival motor neuron 1 proteinsurvival of motor neuron 1 isoform D2A2B345survival of motor neuron 1 isoform D2A2B3457survival of motor neuron 1 isoform D2A3457survival of motor neuron 1 isofor
Modification date2020032220200329
UniProtAcc

P21802

Main function of 5'-partner protein: FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is required for normal skeleton development. Promotes cell proliferation in keratinocytes and immature osteoblasts, but promotes apoptosis in differentiated osteoblasts. Phosphorylates PLCG1, FRS2 and PAK4. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. FGFR2 signaling is down-regulated by ubiquitination, internalization and degradation. Mutations that lead to constitutive kinase activation or impair normal FGFR2 maturation, internalization and degradation lead to aberrant signaling. Over-expressed FGFR2 promotes activation of STAT1. {ECO:0000269|PubMed:12529371, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:15629145, ECO:0000269|PubMed:16384934, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18374639, ECO:0000269|PubMed:19103595, ECO:0000269|PubMed:19387476, ECO:0000269|PubMed:19410646, ECO:0000269|PubMed:21596750, ECO:0000269|PubMed:8663044}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000346997, ENST00000351936, 
ENST00000356226, ENST00000357555, 
ENST00000358487, ENST00000360144, 
ENST00000369056, ENST00000369059, 
ENST00000369060, ENST00000369061, 
ENST00000457416, ENST00000478859, 
ENST00000359354, ENST00000490349, 
ENST00000510679, ENST00000351205, 
ENST00000380707, ENST00000503079, 
ENST00000506163, ENST00000514951, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score24 X 20 X 12=57605 X 7 X 4=140
# samples 385
** MAII scorelog2(38/5760*10)=-3.92199748799873
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/140*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: FGFR2 [Title/Abstract] AND SMN1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: FGFR2 [Title/Abstract] AND SMN1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FGFR2(123243212)-SMN1(70234666), # samples:2
SMN1(70221011)-FGFR2(123239627), # samples:1
Anticipated loss of major functional domain due to fusion event.FGFR2-SMN1 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.
FGFR2-SMN1 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.
FGFR2-SMN1 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.
FGFR2-SMN1 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.
FGFR2-SMN1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
FGFR2-SMN1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
FGFR2-SMN1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
FGFR2-SMN1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted 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
HgeneFGFR2

GO:0008284

positive regulation of cell proliferation

8663044

HgeneFGFR2

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044|15629145

HgeneFGFR2

GO:0018108

peptidyl-tyrosine phosphorylation

15629145|16844695

HgeneFGFR2

GO:0046777

protein autophosphorylation

15629145

TgeneSMN1

GO:0000387

spliceosomal snRNP assembly

18984161



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/chr10:123243212/chr5:70234666)
- 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 FGFR2 (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 SMN1 (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)
ENST00000369061FGFR2chr10123243212-ENST00000351205SMN1chr570234666+34022115482822924
ENST00000369061FGFR2chr10123243212-ENST00000503079SMN1chr570234666+31792115482822924
ENST00000369061FGFR2chr10123243212-ENST00000380707SMN1chr570234666+34962115482918956
ENST00000369061FGFR2chr10123243212-ENST00000514951SMN1chr570234666+32942115482717889
ENST00000369061FGFR2chr10123243212-ENST00000506163SMN1chr570234666+34702115482882944
ENST00000346997FGFR2chr10123243212-ENST00000351205SMN1chr570234666+359423071230141000
ENST00000346997FGFR2chr10123243212-ENST00000503079SMN1chr570234666+337123071230141000
ENST00000346997FGFR2chr10123243212-ENST00000380707SMN1chr570234666+368823071231101032
ENST00000346997FGFR2chr10123243212-ENST00000514951SMN1chr570234666+34862307122909965
ENST00000346997FGFR2chr10123243212-ENST00000506163SMN1chr570234666+366223071230741020
ENST00000369056FGFR2chr10123243212-ENST00000351205SMN1chr570234666+361523282430351003
ENST00000369056FGFR2chr10123243212-ENST00000503079SMN1chr570234666+339223282430351003
ENST00000369056FGFR2chr10123243212-ENST00000380707SMN1chr570234666+370923282431311035
ENST00000369056FGFR2chr10123243212-ENST00000514951SMN1chr570234666+35072328242930968
ENST00000369056FGFR2chr10123243212-ENST00000506163SMN1chr570234666+368323282430951023

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
ENST00000369061ENST00000351205FGFR2chr10123243212-SMN1chr570234666+0.0002415420.9997584
ENST00000369061ENST00000503079FGFR2chr10123243212-SMN1chr570234666+0.0004486350.99955136
ENST00000369061ENST00000380707FGFR2chr10123243212-SMN1chr570234666+0.0002021850.9997979
ENST00000369061ENST00000514951FGFR2chr10123243212-SMN1chr570234666+0.0007047810.99929523
ENST00000369061ENST00000506163FGFR2chr10123243212-SMN1chr570234666+0.0002144990.9997855
ENST00000346997ENST00000351205FGFR2chr10123243212-SMN1chr570234666+0.0001267560.9998733
ENST00000346997ENST00000503079FGFR2chr10123243212-SMN1chr570234666+0.0001966110.99980336
ENST00000346997ENST00000380707FGFR2chr10123243212-SMN1chr570234666+0.0002455520.9997545
ENST00000346997ENST00000514951FGFR2chr10123243212-SMN1chr570234666+0.0003150070.99968505
ENST00000346997ENST00000506163FGFR2chr10123243212-SMN1chr570234666+0.0001353220.9998647
ENST00000369056ENST00000351205FGFR2chr10123243212-SMN1chr570234666+0.0001617520.99983823
ENST00000369056ENST00000503079FGFR2chr10123243212-SMN1chr570234666+0.0002425540.99975747
ENST00000369056ENST00000380707FGFR2chr10123243212-SMN1chr570234666+0.0001326040.9998673
ENST00000369056ENST00000514951FGFR2chr10123243212-SMN1chr570234666+0.0003145280.9996855
ENST00000369056ENST00000506163FGFR2chr10123243212-SMN1chr570234666+0.0001325850.99986744

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 FGFR2-SMN1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
FGFR2chr10123243212SMN1chr5702346662115689EDLDRILTLTTNESDDSDIWDDTALI
FGFR2chr10123243212SMN1chr5702346662307765EDLDRILTLTTNESDDSDIWDDTALI
FGFR2chr10123243212SMN1chr5702346662328768EDLDRILTLTTNESDDSDIWDDTALI

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Potential FusionNeoAntigen Information of FGFR2-SMN1 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.
FGFR2-SMN1_123243212_70234666.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)
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:03NESDDSDIW0.99620.80371120
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:03TNESDDSDIW0.61580.80831020
FGFR2-SMN1chr10123243212chr5702346662307HLA-B58:01TTNESDDSDIW0.99770.6831920
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:03TTNESDDSDIW0.93090.8048920
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:26NESDDSDIW0.99620.80371120
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:13NESDDSDIW0.99620.80371120
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:07NESDDSDIW0.99620.80371120
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:26TNESDDSDIW0.61580.80831020
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:07TNESDDSDIW0.61580.80831020
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:13TNESDDSDIW0.61580.80831020
FGFR2-SMN1chr10123243212chr5702346662307HLA-B57:02TTNESDDSDIW0.99670.6298920
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:26TTNESDDSDIW0.93090.8048920
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:13TTNESDDSDIW0.93090.8048920
FGFR2-SMN1chr10123243212chr5702346662307HLA-B44:07TTNESDDSDIW0.93090.8048920

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Potential FusionNeoAntigen Information of FGFR2-SMN1 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.
FGFR2-SMN1_123243212_70234666.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)
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0401LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0401DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0401DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0403LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0403DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0403DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0403EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0405DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0405LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0407LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0407DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0407DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0409DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0409LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0409DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0411DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0411LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0411DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0411RILTLTTNESDDSDI419
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0413LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0413DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0413DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0413EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0415LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0415DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0415DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0415EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0417DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0417LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0417DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0419LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0419DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0419DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0419EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0422LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0424LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0424DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0424DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0427LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0427DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0427DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0427EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0429DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0429LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0430DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0430LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0431LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0431DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0431DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0433LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0433DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0433DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0435LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0435DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0435DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0436LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0436DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0436DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0436EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0437LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0437DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0437DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0438LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0438DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0438DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0439LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0439DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0439DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0439EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0440LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0440DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0440DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0440EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0441LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0441DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0441DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0441EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0442LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0442DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0442DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0442EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0443LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0443DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0443DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0444LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0444DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0444DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0444EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0445DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0445LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0446LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0446DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0446DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0446EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0447LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0447DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0447DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0448DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0448LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0449LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0449DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0449DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0449EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0450LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0450DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0450DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0450EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0451LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0451DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0451DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0451EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0452LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0452DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0452DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0452EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0453LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0453DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0453DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0453EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0454LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0454DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0455LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0455DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0455DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0455EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0456LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0456DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0456DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0456EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0457DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0457LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0458LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0458DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0458DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0458EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0459LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0459DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0459DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0459EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0460LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0460DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0460DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0460EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0461LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0461DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0461DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0461EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0462DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0462LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0462DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0463LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0463DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0463DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0464LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0465LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0465DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0465DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0467LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0467DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0467DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0468LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0468DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0468DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0468EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0469DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0469LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0470LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0470DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0470DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0470EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0471LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0471DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0471DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0471EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0473LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0473DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0473DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0473EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0474LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0475LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0475DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0475DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0476LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0476DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0476DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0477DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0477LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0478LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0478DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0478DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0478EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0479LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0479DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0479DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0479EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0480LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0480DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0480DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0482LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0482DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0482DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0483DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0483LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0484DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0484LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0485LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0485DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0485DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0485EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0486LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0487LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0487DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0487DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0488LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0488DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0488DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0488EDLDRILTLTTNESD015
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0489DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0489LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0491DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0491LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0491DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-0491RILTLTTNESDDSDI419
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1001LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1002LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1002DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1002DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1003LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1410LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1410DRILTLTTNESDDSD318
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1410DLDRILTLTTNESDD116
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1452LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1457LDRILTLTTNESDDS217
FGFR2-SMN1chr10123243212chr5702346662307DRB1-1457DLDRILTLTTNESDD116

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Fusion breakpoint peptide structures of FGFR2-SMN1

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
5720LTLTTNESDDSDIWFGFR2SMN1chr10123243212chr5702346662307

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of FGFR2-SMN1

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-B14:023BVN5720LTLTTNESDDSDIW-7.15543-7.26883
HLA-B14:023BVN5720LTLTTNESDDSDIW-4.77435-5.80965
HLA-B52:013W395720LTLTTNESDDSDIW-6.80875-6.92215
HLA-B52:013W395720LTLTTNESDDSDIW-4.20386-5.23916
HLA-A11:014UQ25720LTLTTNESDDSDIW-7.5194-8.5547
HLA-A11:014UQ25720LTLTTNESDDSDIW-6.9601-7.0735
HLA-A24:025HGA5720LTLTTNESDDSDIW-7.52403-7.63743
HLA-A24:025HGA5720LTLTTNESDDSDIW-5.82433-6.85963
HLA-B27:056PYJ5720LTLTTNESDDSDIW-3.28285-4.31815
HLA-B44:053DX85720LTLTTNESDDSDIW-5.91172-6.94702
HLA-B44:053DX85720LTLTTNESDDSDIW-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of FGFR2-SMN1

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
FGFR2-SMN1chr10123243212chr5702346661020TNESDDSDIWACCAATGAGAGCGATGATTCTGACATTTGG
FGFR2-SMN1chr10123243212chr5702346661120NESDDSDIWAATGAGAGCGATGATTCTGACATTTGG
FGFR2-SMN1chr10123243212chr570234666920TTNESDDSDIWACAACCAATGAGAGCGATGATTCTGACATTTGG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
FGFR2-SMN1chr10123243212chr570234666015EDLDRILTLTTNESDGAAGACTTGGATCGAATTCTCACTCTCACAACCAATGAGAGCGAT
FGFR2-SMN1chr10123243212chr570234666116DLDRILTLTTNESDDGACTTGGATCGAATTCTCACTCTCACAACCAATGAGAGCGATGAT
FGFR2-SMN1chr10123243212chr570234666217LDRILTLTTNESDDSTTGGATCGAATTCTCACTCTCACAACCAATGAGAGCGATGATTCT
FGFR2-SMN1chr10123243212chr570234666318DRILTLTTNESDDSDGATCGAATTCTCACTCTCACAACCAATGAGAGCGATGATTCTGAC
FGFR2-SMN1chr10123243212chr570234666419RILTLTTNESDDSDICGAATTCTCACTCTCACAACCAATGAGAGCGATGATTCTGACATT

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Information of the samples that have these potential fusion neoantigens of FGFR2-SMN1

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
LIHCFGFR2-SMN1chr10123243212ENST00000346997chr570234666ENST00000351205TCGA-DD-AA3A-01A

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Potential target of CAR-T therapy development for FGFR2-SMN1

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
HgeneFGFR2chr10:123243212chr5:70234666ENST00000346997-1617378_398765820.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr5:70234666ENST00000351936-1718378_398765786.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr5:70234666ENST00000356226-1516378_398650705.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr5:70234666ENST00000357555-1617378_398678708.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr5:70234666ENST00000358487-1718378_398767822.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr5:70234666ENST00000360144-1617378_398679681.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr5:70234666ENST00000369056-1617378_398768770.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr5:70234666ENST00000369060-1516378_398651706.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr5:70234666ENST00000369061-1415378_398655710.0TransmembraneHelical
HgeneFGFR2chr10:123243212chr5:70234666ENST00000457416-1718378_398768823.0TransmembraneHelical

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 FGFR2-SMN1

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 FGFR2-SMN1

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
HgeneFGFR2C2931196Craniofacial dysostosis type 123CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR2C0220658Pfeiffer Syndrome21CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR2C0001193Apert syndrome19CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0795998JACKSON-WEISS SYNDROME10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0175699Saethre-Chotzen Syndrome8CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneFGFR2C1852406Cutis Gyrata Syndrome of Beare And Stevenson8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C2936791Antley-Bixler Syndrome, Autosomal Dominant7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C1510455Acrocephalosyndactylia6CTD_human;ORPHANET
HgeneFGFR2C0265269Lacrimoauriculodentodigital syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0010278Craniosynostosis4CTD_human;GENOMICS_ENGLAND
HgeneFGFR2C1863389Apert-Crouzon Disease4CTD_human
HgeneFGFR2C1865070SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C0006142Malignant neoplasm of breast3CTD_human;UNIPROT
HgeneFGFR2C0030044Acrocephaly3CTD_human
HgeneFGFR2C0036341Schizophrenia3PSYGENET
HgeneFGFR2C0221356Brachycephaly3CTD_human
HgeneFGFR2C0265534Scaphycephaly3CTD_human
HgeneFGFR2C0265535Trigonocephaly3CTD_human
HgeneFGFR2C0376634Craniofacial Abnormalities3CTD_human
HgeneFGFR2C0678222Breast Carcinoma3CTD_human
HgeneFGFR2C1257931Mammary Neoplasms, Human3CTD_human
HgeneFGFR2C1458155Mammary Neoplasms3CTD_human
HgeneFGFR2C1833340Synostotic Posterior Plagiocephaly3CTD_human
HgeneFGFR2C1860819Metopic synostosis3CTD_human
HgeneFGFR2C2931150Synostotic Anterior Plagiocephaly3CTD_human
HgeneFGFR2C3281247BENT BONE DYSPLASIA SYNDROME3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR2C4551902Craniosynostosis, Type 13CTD_human
HgeneFGFR2C4704874Mammary Carcinoma, Human3CTD_human
HgeneFGFR2C0008925Cleft Palate2CTD_human
HgeneFGFR2C0011570Mental Depression2PSYGENET
HgeneFGFR2C0011581Depressive disorder2PSYGENET
HgeneFGFR2C0024623Malignant neoplasm of stomach2CGI;CTD_human
HgeneFGFR2C0038356Stomach Neoplasms2CGI;CTD_human
HgeneFGFR2C1708349Hereditary Diffuse Gastric Cancer2CTD_human
HgeneFGFR2C1837218Cleft palate, isolated2CTD_human
HgeneFGFR2C0000772Multiple congenital anomalies1CTD_human
HgeneFGFR2C0003090Ankylosis1CTD_human
HgeneFGFR2C0005586Bipolar Disorder1PSYGENET
HgeneFGFR2C0008924Cleft upper lip1CTD_human
HgeneFGFR2C0010273Craniofacial Dysostosis1CTD_human
HgeneFGFR2C0011757Developmental Coordination Disorder1CTD_human
HgeneFGFR2C0014170Endometrial Neoplasms1CTD_human
HgeneFGFR2C0018553Hamartoma Syndrome, Multiple1CTD_human
HgeneFGFR2C0020796Profound Mental Retardation1CTD_human
HgeneFGFR2C0023890Liver Cirrhosis1CTD_human
HgeneFGFR2C0024121Lung Neoplasms1CTD_human
HgeneFGFR2C0025363Mental Retardation, Psychosocial1CTD_human
HgeneFGFR2C0026613Motor Skills Disorders1CTD_human
HgeneFGFR2C0033975Psychotic Disorders1PSYGENET
HgeneFGFR2C0037268Skin Abnormalities1CTD_human
HgeneFGFR2C0037274Dermatologic disorders1CTD_human
HgeneFGFR2C0038219Status Dysraphicus1CTD_human
HgeneFGFR2C0040427Tooth Abnormalities1CTD_human
HgeneFGFR2C0080178Spina Bifida1CTD_human
HgeneFGFR2C0152423Congenital small ears1GENOMICS_ENGLAND
HgeneFGFR2C0206698Cholangiocarcinoma1CTD_human
HgeneFGFR2C0206762Limb Deformities, Congenital1CTD_human
HgeneFGFR2C0239946Fibrosis, Liver1CTD_human
HgeneFGFR2C0242379Malignant neoplasm of lung1CTD_human
HgeneFGFR2C0265326Bannayan-Riley-Ruvalcaba Syndrome1CTD_human
HgeneFGFR2C0266508Rachischisis1CTD_human
HgeneFGFR2C0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgeneFGFR2C0349204Nonorganic psychosis1PSYGENET
HgeneFGFR2C0391826Lhermitte-Duclos disease1CTD_human
HgeneFGFR2C0476089Endometrial Carcinoma1CGI;CTD_human
HgeneFGFR2C0524730Odontome1CTD_human
HgeneFGFR2C0699791Stomach Carcinoma1CGI;GENOMICS_ENGLAND
HgeneFGFR2C0917816Mental deficiency1CTD_human
HgeneFGFR2C1450010Plagiocephaly, Nonsynostotic1CTD_human
HgeneFGFR2C1860042Antley-Bixler Syndrome with Disordered Steroidogenesis1CTD_human
HgeneFGFR2C1867564SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY1GENOMICS_ENGLAND
HgeneFGFR2C1959582PTEN Hamartoma Tumor Syndrome1CTD_human
HgeneFGFR2C2350233Antley-Bixler Syndrome Phenotype1CTD_human
HgeneFGFR2C3267076Familial scaphocephaly syndrome1GENOMICS_ENGLAND
HgeneFGFR2C3714756Intellectual Disability1CTD_human
HgeneFGFR2C3805278Extrahepatic Cholangiocarcinoma1CTD_human