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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:FGFRL1-IGF2 (FusionGDB2 ID:30313)

Fusion Gene Summary for FGFRL1-IGF2

check button Fusion gene summary
Fusion gene informationFusion gene name: FGFRL1-IGF2
Fusion gene ID: 30313
HgeneTgene
Gene symbol

FGFRL1

IGF2

Gene ID

53834

3481

Gene namefibroblast growth factor receptor like 1insulin like growth factor 2
SynonymsFGFR-5|FGFR5|FHFRC11orf43|GRDF|IGF-II|PP9974
Cytomap

4p16.3

11p15.5

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor-like 1FGF homologous factor receptorFGF receptor-like protein 1FGFR-like proteinfibroblast growth factor receptor 5insulin-like growth factor IIT3M-11-derived growth factorinsulin-like growth factor 2 (somatomedin A)insulin-like growth factor type 2preptin
Modification date2020032820200322
UniProtAcc

Q8N441

P11717

Ensembl transtripts involved in fusion geneENST00000264748, ENST00000398484, 
ENST00000504138, ENST00000510644, 
ENST00000512562, 		ENST00000300632, 
ENST00000381395, ENST00000381406, 
ENST00000416167, ENST00000381389, 
ENST00000381392, ENST00000418738, 
ENST00000434045, 
Fusion gene scores* DoF score2 X 2 X 2=850 X 61 X 13=39650
# samples 237
** MAII scorelog2(2/8*10)=1.32192809488736log2(37/39650*10)=-6.74365178496239
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGFRL1 [Title/Abstract] AND IGF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGFRL1(1020073)-IGF2(2153027), # samples:2
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
TgeneIGF2

GO:0008284

positive regulation of cell proliferation

28873464

TgeneIGF2

GO:0042104

positive regulation of activated T cell proliferation

15694994

TgeneIGF2

GO:0043410

positive regulation of MAPK cascade

11500939

TgeneIGF2

GO:0045840

positive regulation of mitotic nuclear division

11500939

TgeneIGF2

GO:0046628

positive regulation of insulin receptor signaling pathway

11500939

TgeneIGF2

GO:0051897

positive regulation of protein kinase B signaling

11500939


check buttonFusion gene breakpoints across FGFRL1 (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 IGF2 (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
ChimerDB4OVTCGA-04-1519-01AFGFRL1chr4

1020073

+IGF2chr11

2153027

-
ChimerDB4OVTCGA-24-1430-01AFGFRL1chr4

1020073

+IGF2chr11

2153027

-


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Fusion Gene ORF analysis for FGFRL1-IGF2

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
3UTR-3UTRENST00000264748ENST00000300632FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-3UTRENST00000264748ENST00000381395FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-3UTRENST00000264748ENST00000381406FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-3UTRENST00000264748ENST00000416167FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-3UTRENST00000398484ENST00000300632FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-3UTRENST00000398484ENST00000381395FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-3UTRENST00000398484ENST00000381406FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-3UTRENST00000398484ENST00000416167FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-intronENST00000264748ENST00000381389FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-intronENST00000264748ENST00000381392FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-intronENST00000264748ENST00000418738FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-intronENST00000264748ENST00000434045FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-intronENST00000398484ENST00000381389FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-intronENST00000398484ENST00000381392FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-intronENST00000398484ENST00000418738FGFRL1chr4

1020073

+IGF2chr11

2153027

-
3UTR-intronENST00000398484ENST00000434045FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000504138ENST00000300632FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000504138ENST00000381395FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000504138ENST00000381406FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000504138ENST00000416167FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000510644ENST00000300632FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000510644ENST00000381395FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000510644ENST00000381406FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000510644ENST00000416167FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000512562ENST00000300632FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000512562ENST00000381395FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000512562ENST00000381406FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-3UTRENST00000512562ENST00000416167FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000504138ENST00000381389FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000504138ENST00000381392FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000504138ENST00000418738FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000504138ENST00000434045FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000510644ENST00000381389FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000510644ENST00000381392FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000510644ENST00000418738FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000510644ENST00000434045FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000512562ENST00000381389FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000512562ENST00000381392FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000512562ENST00000418738FGFRL1chr4

1020073

+IGF2chr11

2153027

-
intron-intronENST00000512562ENST00000434045FGFRL1chr4

1020073

+IGF2chr11

2153027

-

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 FGFRL1-IGF2


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 FGFRL1-IGF2


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/:1020073/:2153027)
- 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
FGFRL1

Q8N441

IGF2

P11717

FUNCTION: Has a negative effect on cell proliferation. {ECO:0000250}.FUNCTION: Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:2963003, PubMed:18817523). Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex (PubMed:2963003, PubMed:18817523). The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer (PubMed:18817523). This receptor also binds IGF2 (PubMed:18046459). Acts as a positive regulator of T-cell coactivation by binding DPP4 (PubMed:10900005). {ECO:0000269|PubMed:10900005, ECO:0000269|PubMed:18046459, ECO:0000269|PubMed:18817523, ECO:0000269|PubMed:2963003}.

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 FGFRL1-IGF2


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 FGFRL1-IGF2


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 FGFRL1-IGF2


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 FGFRL1-IGF2


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