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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:EZR-C1orf50 (FusionGDB2 ID:HG7430TG79078)

Fusion Gene Summary for EZR-C1orf50

check button Fusion gene summary
Fusion gene informationFusion gene name: EZR-C1orf50
Fusion gene ID: hg7430tg79078
HgeneTgene
Gene symbol

EZR

C1orf50

Gene ID

7430

79078

Gene nameezrinchromosome 1 open reading frame 50
SynonymsCVIL|CVL|HEL-S-105|VIL2-
Cytomap('EZR')('C1orf50')

6q25.3

1p34.2

Type of geneprotein-codingprotein-coding
Descriptionezrincytovillin 2epididymis secretory protein Li 105p81villin 2 (ezrin)uncharacterized protein C1orf50
Modification date2020032220200313
UniProtAcc

P15311

Q9BV19

Ensembl transtripts involved in fusion geneENST00000337147, ENST00000367075, 
ENST00000392177, ENST00000476189, 
Fusion gene scores* DoF score26 X 22 X 10=57203 X 4 X 2=24
# samples 324
** MAII scorelog2(32/5720*10)=-4.15987133677839
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: EZR [Title/Abstract] AND C1orf50 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEZR(159239114)-C1orf50(43239234), # 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
HgeneEZR

GO:0048015

phosphatidylinositol-mediated signaling

25591774

HgeneEZR

GO:0051017

actin filament bundle assembly

10793131



check button Fusion gene information
* 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-13-1487-01AEZRchr6

159239114

-C1orf50chr1

43239234

+
ChimerDB4OVTCGA-13-1487EZRchr6

159239113

-C1orf50chr1

43239233

+


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Fusion Gene ORF analysis for EZR-C1orf50

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-3UTRENST00000337147ENST00000468913EZRchr6

159239114

-C1orf50chr1

43239234

+
5CDS-3UTRENST00000337147ENST00000468913EZRchr6

159239113

-C1orf50chr1

43239233

+
5CDS-3UTRENST00000367075ENST00000468913EZRchr6

159239114

-C1orf50chr1

43239234

+
5CDS-3UTRENST00000367075ENST00000468913EZRchr6

159239113

-C1orf50chr1

43239233

+
5CDS-3UTRENST00000392177ENST00000468913EZRchr6

159239114

-C1orf50chr1

43239234

+
5CDS-3UTRENST00000392177ENST00000468913EZRchr6

159239113

-C1orf50chr1

43239233

+
5CDS-5UTRENST00000337147ENST00000372525EZRchr6

159239114

-C1orf50chr1

43239234

+
5CDS-5UTRENST00000337147ENST00000372525EZRchr6

159239113

-C1orf50chr1

43239233

+
5CDS-5UTRENST00000337147ENST00000536543EZRchr6

159239114

-C1orf50chr1

43239234

+
5CDS-5UTRENST00000337147ENST00000536543EZRchr6

159239113

-C1orf50chr1

43239233

+
5CDS-5UTRENST00000367075ENST00000372525EZRchr6

159239114

-C1orf50chr1

43239234

+
5CDS-5UTRENST00000367075ENST00000372525EZRchr6

159239113

-C1orf50chr1

43239233

+
5CDS-5UTRENST00000367075ENST00000536543EZRchr6

159239114

-C1orf50chr1

43239234

+
5CDS-5UTRENST00000367075ENST00000536543EZRchr6

159239113

-C1orf50chr1

43239233

+
5CDS-5UTRENST00000392177ENST00000372525EZRchr6

159239114

-C1orf50chr1

43239234

+
5CDS-5UTRENST00000392177ENST00000372525EZRchr6

159239113

-C1orf50chr1

43239233

+
5CDS-5UTRENST00000392177ENST00000536543EZRchr6

159239114

-C1orf50chr1

43239234

+
5CDS-5UTRENST00000392177ENST00000536543EZRchr6

159239113

-C1orf50chr1

43239233

+
5UTR-3UTRENST00000476189ENST00000468913EZRchr6

159239114

-C1orf50chr1

43239234

+
5UTR-3UTRENST00000476189ENST00000468913EZRchr6

159239113

-C1orf50chr1

43239233

+
5UTR-5UTRENST00000476189ENST00000372525EZRchr6

159239114

-C1orf50chr1

43239234

+
5UTR-5UTRENST00000476189ENST00000372525EZRchr6

159239113

-C1orf50chr1

43239233

+
5UTR-5UTRENST00000476189ENST00000536543EZRchr6

159239114

-C1orf50chr1

43239234

+
5UTR-5UTRENST00000476189ENST00000536543EZRchr6

159239113

-C1orf50chr1

43239233

+

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 EZR-C1orf50


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)
EZRchr6159239113-C1orf50chr143239233+1.85E-060.9999982
EZRchr6159239113-C1orf50chr143239233+1.85E-060.9999982
EZRchr6159239113-C1orf50chr143239233+1.85E-060.9999982
EZRchr6159239113-C1orf50chr143239233+1.85E-060.9999982

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.
genomic feature

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 EZR-C1orf50


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/:159239114/:43239234)
- 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
EZR

P15311

C1orf50

Q9BV19

FUNCTION: Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis. {ECO:0000269|PubMed:17881735, ECO:0000269|PubMed:18270268, ECO:0000269|PubMed:19111582}.

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 EZR-C1orf50


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 EZR-C1orf50


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 EZR-C1orf50


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 EZR-C1orf50


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEZRC0033578Prostatic Neoplasms3CTD_human
HgeneEZRC0376358Malignant neoplasm of prostate3CTD_human
HgeneEZRC0007097Carcinoma1CTD_human
HgeneEZRC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneEZRC0024667Animal Mammary Neoplasms1CTD_human
HgeneEZRC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneEZRC0027627Neoplasm Metastasis1CTD_human
HgeneEZRC0029408Degenerative polyarthritis1CTD_human
HgeneEZRC0086743Osteoarthrosis Deformans1CTD_human
HgeneEZRC0205696Anaplastic carcinoma1CTD_human
HgeneEZRC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneEZRC0205698Undifferentiated carcinoma1CTD_human
HgeneEZRC0205699Carcinomatosis1CTD_human
HgeneEZRC1257925Mammary Carcinoma, Animal1CTD_human