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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:FGF13-CSE1L (FusionGDB2 ID:30210)

Fusion Gene Summary for FGF13-CSE1L

check button Fusion gene summary
Fusion gene informationFusion gene name: FGF13-CSE1L
Fusion gene ID: 30210
HgeneTgene
Gene symbol

FGF13

CSE1L

Gene ID

2258

1434

Gene namefibroblast growth factor 13chromosome segregation 1 like
SynonymsFGF-13|FGF2|FHF-2|FHF2|LINC00889CAS|CSE1|XPO2
Cytomap

Xq26.3-q27.1

20q13.13

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor 13fibroblast growth factor homologous factor 2exportin-2CSE1 chromosome segregation 1-likecellular apoptosis susceptibility proteinchromosome segregation 1-like proteinepididymis secretory sperm binding proteinexp2importin-alpha re-exporter
Modification date2020031320200313
UniProtAcc

Q92913

P55060

Ensembl transtripts involved in fusion geneENST00000370603, ENST00000541469, 
ENST00000305414, ENST00000315930, 
ENST00000441825, 
ENST00000396192, 
ENST00000469700, ENST00000542325, 
ENST00000262982, 
Fusion gene scores* DoF score10 X 5 X 4=20012 X 15 X 6=1080
# samples 914
** MAII scorelog2(9/200*10)=-1.15200309344505
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/1080*10)=-2.94753258010586
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGF13 [Title/Abstract] AND CSE1L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGF13(138286221)-CSE1L(47683727), # samples:1
Anticipated loss of major functional domain due to fusion event.FGF13-CSE1L seems lost the major protein functional domain in Hgene partner, which is a essential 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
HgeneFGF13

GO:0000165

MAPK cascade

12244047


check buttonFusion gene breakpoints across FGF13 (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 CSE1L (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
ChimerDB4PRADTCGA-EJ-5526-01AFGF13chrX

138286221

-CSE1Lchr20

47683727

+


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Fusion Gene ORF analysis for FGF13-CSE1L

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
5CDS-intronENST00000370603ENST00000396192FGF13chrX

138286221

-CSE1Lchr20

47683727

+
5CDS-intronENST00000370603ENST00000469700FGF13chrX

138286221

-CSE1Lchr20

47683727

+
5CDS-intronENST00000370603ENST00000542325FGF13chrX

138286221

-CSE1Lchr20

47683727

+
5CDS-intronENST00000541469ENST00000396192FGF13chrX

138286221

-CSE1Lchr20

47683727

+
5CDS-intronENST00000541469ENST00000469700FGF13chrX

138286221

-CSE1Lchr20

47683727

+
5CDS-intronENST00000541469ENST00000542325FGF13chrX

138286221

-CSE1Lchr20

47683727

+
Frame-shiftENST00000370603ENST00000262982FGF13chrX

138286221

-CSE1Lchr20

47683727

+
Frame-shiftENST00000541469ENST00000262982FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-3CDSENST00000305414ENST00000262982FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-3CDSENST00000315930ENST00000262982FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-3CDSENST00000441825ENST00000262982FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-intronENST00000305414ENST00000396192FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-intronENST00000305414ENST00000469700FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-intronENST00000305414ENST00000542325FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-intronENST00000315930ENST00000396192FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-intronENST00000315930ENST00000469700FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-intronENST00000315930ENST00000542325FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-intronENST00000441825ENST00000396192FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-intronENST00000441825ENST00000469700FGF13chrX

138286221

-CSE1Lchr20

47683727

+
intron-intronENST00000441825ENST00000542325FGF13chrX

138286221

-CSE1Lchr20

47683727

+

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 FGF13-CSE1L


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)
FGF13chrX138286220-CSE1Lchr2047683726+0.152911660.84708834
FGF13chrX138286220-CSE1Lchr2047683726+0.152911660.84708834

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.
genomic feature of top 1%

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Fusion Protein Features for FGF13-CSE1L


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/:138286221/:47683727)
- 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
FGF13

Q92913

CSE1L

P55060

FUNCTION: Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate in the refinement of axons by negatively regulating axonal and leading processes branching (By similarity). Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus (By similarity). May regulate voltage-gated sodium channels transport and function (PubMed:15282281). May also play a role in MAPK signaling (By similarity). Required for the development of axonal initial segment-targeting inhibitory GABAergic synapses made by chandelier neurons (By similarity). {ECO:0000250|UniProtKB:P70377, ECO:0000269|PubMed:15282281}.FUNCTION: Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO:0000269|PubMed:9323134}.

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 FGF13-CSE1L


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 FGF13-CSE1L


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 FGF13-CSE1L


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 FGF13-CSE1L


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