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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:FZR1-CELF5 (FusionGDB2 ID:31968)

Fusion Gene Summary for FZR1-CELF5

check button Fusion gene summary
Fusion gene informationFusion gene name: FZR1-CELF5
Fusion gene ID: 31968
HgeneTgene
Gene symbol

FZR1

CELF5

Gene ID

51343

60680

Gene namefizzy and cell division cycle 20 related 1CUGBP Elav-like family member 5
SynonymsCDC20C|CDH1|FZR|FZR2|HCDH|HCDH1BRUNOL-5|BRUNOL5|CELF-5
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionfizzy-related protein homologCDC20 homolog 1CDC20-like 1bCDC20-like protein 1cdh1/Hct1 homologfizzy/cell division cycle 20 related 1CUGBP Elav-like family member 5CUG-BP and ETR-3 like factor 5RNA-binding protein BRUNOL-5bruno-like 5 RNA binding protein
Modification date2020031320200313
UniProtAcc

Q9UM11

Q8N6W0

Ensembl transtripts involved in fusion geneENST00000441788, ENST00000313639, 
ENST00000395095, 
ENST00000292672, 
ENST00000541430, ENST00000588101, 
Fusion gene scores* DoF score11 X 9 X 10=9906 X 11 X 7=462
# samples 1514
** MAII scorelog2(15/990*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/462*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FZR1 [Title/Abstract] AND CELF5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFZR1(3506472)-CELF5(3293317), # samples:3
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
HgeneFZR1

GO:0031145

anaphase-promoting complex-dependent catabolic process

18662541|21596315

HgeneFZR1

GO:0072425

signal transduction involved in G2 DNA damage checkpoint

18662541

HgeneFZR1

GO:1904668

positive regulation of ubiquitin protein ligase activity

11459826

TgeneCELF5

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

11158314


check buttonFusion gene breakpoints across FZR1 (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 CELF5 (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-XJ-A9DX-01AFZR1chr19

3506472

-CELF5chr19

3293317

+
ChimerDB4PRADTCGA-XJ-A9DX-01AFZR1chr19

3506472

+CELF5chr19

3293317

+
ChimerDB4PRADTCGA-XJ-A9DXFZR1chr19

3506472

+CELF5chr19

3293316

+
ChimerDB4PRADTCGA-XJ-A9DXFZR1chr19

3506472

+CELF5chr19

3293317

+


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Fusion Gene ORF analysis for FZR1-CELF5

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
5UTR-3CDSENST00000441788ENST00000292672FZR1chr19

3506472

+CELF5chr19

3293317

+
5UTR-3CDSENST00000441788ENST00000292672FZR1chr19

3506472

+CELF5chr19

3293316

+
5UTR-3CDSENST00000441788ENST00000541430FZR1chr19

3506472

+CELF5chr19

3293317

+
5UTR-3CDSENST00000441788ENST00000541430FZR1chr19

3506472

+CELF5chr19

3293316

+
5UTR-intronENST00000441788ENST00000588101FZR1chr19

3506472

+CELF5chr19

3293317

+
5UTR-intronENST00000441788ENST00000588101FZR1chr19

3506472

+CELF5chr19

3293316

+
intron-3CDSENST00000313639ENST00000292672FZR1chr19

3506472

+CELF5chr19

3293317

+
intron-3CDSENST00000313639ENST00000292672FZR1chr19

3506472

+CELF5chr19

3293316

+
intron-3CDSENST00000313639ENST00000541430FZR1chr19

3506472

+CELF5chr19

3293317

+
intron-3CDSENST00000313639ENST00000541430FZR1chr19

3506472

+CELF5chr19

3293316

+
intron-3CDSENST00000395095ENST00000292672FZR1chr19

3506472

+CELF5chr19

3293317

+
intron-3CDSENST00000395095ENST00000292672FZR1chr19

3506472

+CELF5chr19

3293316

+
intron-3CDSENST00000395095ENST00000541430FZR1chr19

3506472

+CELF5chr19

3293317

+
intron-3CDSENST00000395095ENST00000541430FZR1chr19

3506472

+CELF5chr19

3293316

+
intron-intronENST00000313639ENST00000588101FZR1chr19

3506472

+CELF5chr19

3293317

+
intron-intronENST00000313639ENST00000588101FZR1chr19

3506472

+CELF5chr19

3293316

+
intron-intronENST00000395095ENST00000588101FZR1chr19

3506472

+CELF5chr19

3293317

+
intron-intronENST00000395095ENST00000588101FZR1chr19

3506472

+CELF5chr19

3293316

+

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 FZR1-CELF5


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)
FZR1chr193506472+CELF5chr193293316+1.11E-081
FZR1chr193506472+CELF5chr193293316+1.11E-081
FZR1chr193506472+CELF5chr193293316+1.11E-081
FZR1chr193506472+CELF5chr193293316+1.11E-081

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 FZR1-CELF5


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/:3506472/:3293317)
- 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
FZR1

Q9UM11

CELF5

Q8N6W0

FUNCTION: Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192). {ECO:0000269|PubMed:18662541, ECO:0000269|PubMed:21596315, ECO:0000269|PubMed:25349192, ECO:0000269|PubMed:9734353}.FUNCTION: RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA. {ECO:0000269|PubMed:11158314}.

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 FZR1-CELF5


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 FZR1-CELF5


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 FZR1-CELF5


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 FZR1-CELF5


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