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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:CDX2-PLEC (FusionGDB2 ID:15478)

Fusion Gene Summary for CDX2-PLEC

check button Fusion gene summary
Fusion gene informationFusion gene name: CDX2-PLEC
Fusion gene ID: 15478
HgeneTgene
Gene symbol

CDX2

PLEC

Gene ID

1045

5339

Gene namecaudal type homeobox 2plectin
SynonymsCDX-3|CDX2/AS|CDX3EBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|LGMDR17|PCN|PLEC1|PLEC1b|PLTN
Cytomap

13q12.2

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionhomeobox protein CDX-2caudal type homeobox transcription factor 2caudal-type homeobox protein 2homeobox protein miniCDX2plectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDa
Modification date2020031520200313
UniProtAcc

Q99626

PLEC

Ensembl transtripts involved in fusion geneENST00000381020, ENST00000548877, 
ENST00000322810, ENST00000345136, 
ENST00000354589, ENST00000354958, 
ENST00000356346, ENST00000357649, 
ENST00000398774, ENST00000436759, 
ENST00000527096, 
Fusion gene scores* DoF score4 X 4 X 3=4810 X 8 X 6=480
# samples 410
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/480*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDX2 [Title/Abstract] AND PLEC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDX2(28543259)-PLEC(144992807), # 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
HgeneCDX2

GO:0000122

negative regulation of transcription by RNA polymerase II

15677472

TgenePLEC

GO:0031581

hemidesmosome assembly

12482924


check buttonFusion gene breakpoints across CDX2 (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 PLEC (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
ChimerDB4COADTCGA-AA-A03F-01ACDX2chr13

28543259

-PLECchr8

144992807

-


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Fusion Gene ORF analysis for CDX2-PLEC

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-3CDSENST00000381020ENST00000322810CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000381020ENST00000345136CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000381020ENST00000354589CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000381020ENST00000354958CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000381020ENST00000356346CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000381020ENST00000357649CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000381020ENST00000398774CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000381020ENST00000436759CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000381020ENST00000527096CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000548877ENST00000322810CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000548877ENST00000345136CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000548877ENST00000354589CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000548877ENST00000354958CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000548877ENST00000356346CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000548877ENST00000357649CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000548877ENST00000398774CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000548877ENST00000436759CDX2chr13

28543259

-PLECchr8

144992807

-
intron-3CDSENST00000548877ENST00000527096CDX2chr13

28543259

-PLECchr8

144992807

-

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 CDX2-PLEC


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 CDX2-PLEC


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/:28543259/:144992807)
- 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
CDX2

Q99626

PLEC

PLEC

FUNCTION: Involved in the transcriptional regulation of multiple genes expressed in the intestinal epithelium. Important in broad range of functions from early differentiation to maintenance of the intestinal epithelial lining of both the small and large intestine. Binds preferentially to methylated DNA (PubMed:28473536). {ECO:0000269|PubMed:28473536}.4684

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 CDX2-PLEC


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 CDX2-PLEC


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 CDX2-PLEC


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 CDX2-PLEC


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