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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6732

FusionGeneSummary for CELF4_FRS2

check button Fusion gene summary
Fusion gene informationFusion gene name: CELF4_FRS2
Fusion gene ID: 6732
HgeneTgene
Gene symbol

CELF4

FRS2

Gene ID

56853

10818

Gene nameCUGBP Elav-like family member 4fibroblast growth factor receptor substrate 2
SynonymsBRUNOL4|CELF-4FRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1
Cytomap

18q12.2

12q15

Type of geneprotein-codingprotein-coding
DescriptionCUGBP Elav-like family member 4CUG-BP- and ETR-3-like factor 4LYST-interacting protein LIP9RNA-binding protein BRUNOL4bruno-like 4, RNA binding proteinbruno-like protein 4fibroblast growth factor receptor substrate 2FGFR signalling adaptorFGFR substrate 2FGFR-signaling adaptor SNTsuc1-associated neurotrophic factor target 1
Modification date2018052320180522
UniProtAcc

Q9BZC1

Q8WU20

Ensembl transtripts involved in fusion geneENST00000334919, ENST00000591287, 
ENST00000420428, ENST00000412753, 
ENST00000601019, ENST00000361795, 
ENST00000603232, ENST00000591282, 
ENST00000588597, ENST00000590011, 
ENST00000299293, ENST00000549921, 
ENST00000550389, ENST00000397997, 
Fusion gene scores* DoF score1 X 1 X 1=115 X 6 X 4=360
# samples 114
** MAII scorelog2(1/1*10)=3.32192809488736log2(14/360*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CELF4 [Title/Abstract] AND FRS2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneCELF4

GO:0000380

alternative mRNA splicing, via spliceosome

19720736

HgeneCELF4

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

11158314|19720736

HgeneCELF4

GO:0048026

positive regulation of mRNA splicing, via spliceosome

15009664


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BI042138CELF4chr18

34823412

-FRS2chr12

69972190

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3UTRENST00000334919ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000334919ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000334919ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000334919ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000591287ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000591287ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000591287ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000591287ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000420428ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000420428ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000420428ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000420428ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000412753ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000412753ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000412753ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000412753ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000601019ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000601019ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000601019ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000601019ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000361795ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000361795ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000361795ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000361795ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000603232ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000603232ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000603232ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000603232ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000591282ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000591282ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000591282ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000591282ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000588597ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000588597ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000588597ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000588597ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000590011ENST00000299293CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-intronENST00000590011ENST00000549921CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000590011ENST00000550389CELF4chr18

34823412

-FRS2chr12

69972190

+
intron-3UTRENST00000590011ENST00000397997CELF4chr18

34823412

-FRS2chr12

69972190

+

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FusionProtFeatures for CELF4_FRS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CELF4

Q9BZC1

FRS2

Q8WU20

RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/orexclusion in pre-mRNA that are subject to tissue-specific anddevelopmentally regulated alternative splicing. Specificallyactivates exon 5 inclusion of cardiac isoforms of TNNT2 duringheart remodeling at the juvenile to adult transition. Promotesexclusion of both the smooth muscle (SM) and non-muscle (NM) exonsin actinin pre-mRNAs. Activates the splicing of MAPT/Tau exon 10.Binds to muscle-specific splicing enhancer (MSE) intronic sitesflanking the alternative exon 5 of TNNT2 pre-mRNA.{ECO:0000269|PubMed:11158314, ECO:0000269|PubMed:12649496,ECO:0000269|PubMed:14973222, ECO:0000269|PubMed:15009664,ECO:0000269|PubMed:15894795}. Adapter protein that links activated FGR and NGFreceptors to downstream signaling pathways. Plays an importantrole in the activation of MAP kinases and in the phosphorylationof PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1.Modulates signaling via SHC1 by competing for a common bindingsite on NTRK1. {ECO:0000269|PubMed:12974390,ECO:0000269|PubMed:21765395}.

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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FusionGeneSequence for CELF4_FRS2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CELF4_FRS2


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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RelatedDrugs for CELF4_FRS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CELF4_FRS2


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