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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FGFR2-GLB1L2 (FusionGDB2 ID:30288)

Fusion Gene Summary for FGFR2-GLB1L2

check button Fusion gene summary
Fusion gene informationFusion gene name: FGFR2-GLB1L2
Fusion gene ID: 30288
HgeneTgene
Gene symbol

FGFR2

GLB1L2

Gene ID

2263

89944

Gene namefibroblast growth factor receptor 2galactosidase beta 1 like 2
SynonymsBBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25MST114|MSTP114
Cytomap

10q26.13

11q25

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 2BEK fibroblast growth factor receptorbacteria-expressed kinasekeratinocyte growth factor receptorprotein tyrosine kinase, receptor like 14beta-galactosidase-1-like protein 2
Modification date2020032220200313
UniProtAcc

P21802

Q8IW92

Ensembl transtripts involved in fusion geneENST00000346997, ENST00000351936, 
ENST00000356226, ENST00000357555, 
ENST00000358487, ENST00000359354, 
ENST00000360144, ENST00000369056, 
ENST00000369059, ENST00000369060, 
ENST00000369061, ENST00000457416, 
ENST00000478859, ENST00000490349, 
ENST00000339772, ENST00000389881, 
ENST00000535456, ENST00000529077, 
Fusion gene scores* DoF score24 X 20 X 12=57602 X 2 X 2=8
# samples 382
** MAII scorelog2(38/5760*10)=-3.92199748799873
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: FGFR2 [Title/Abstract] AND GLB1L2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGFR2(123238028)-GLB1L2(134244080), # 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
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


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.

check buttonFusion gene breakpoints across GLB1L2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAI379298FGFR2chr10

123238028

+GLB1L2chr11

134244080

-


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Fusion Gene ORF analysis for FGFR2-GLB1L2

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000346997ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000346997ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000346997ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000351936ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000351936ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000351936ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000356226ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000356226ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000356226ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000357555ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000357555ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000357555ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000358487ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000358487ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000358487ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000359354ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000359354ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000359354ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000360144ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000360144ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000360144ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369056ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369056ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369056ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369059ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369059ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369059ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369060ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369060ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369060ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369061ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369061ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000369061ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000457416ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000457416ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000457416ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000478859ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000478859ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000478859ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000490349ENST00000339772FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000490349ENST00000389881FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3CDSENST00000490349ENST00000535456FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000346997ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000351936ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000356226ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000357555ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000358487ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000359354ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000360144ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000369056ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000369059ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000369060ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000369061ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000457416ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000478859ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-
intron-3UTRENST00000490349ENST00000529077FGFR2chr10

123238028

+GLB1L2chr11

134244080

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for FGFR2-GLB1L2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FGFR2-GLB1L2


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/:123238028/:134244080)
- 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 buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FGFR2

P21802

GLB1L2

Q8IW92

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}.

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, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for FGFR2-GLB1L2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FGFR2-GLB1L2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for FGFR2-GLB1L2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FGFR2-GLB1L2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource