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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-QKI (FusionGDB2 ID:HG7430TG9444)

Fusion Gene Summary for EZR-QKI

check button Fusion gene summary
Fusion gene informationFusion gene name: EZR-QKI
Fusion gene ID: hg7430tg9444
HgeneTgene
Gene symbol

EZR

QKI

Gene ID

7430

9444

Gene nameezrinQKI, KH domain containing RNA binding
SynonymsCVIL|CVL|HEL-S-105|VIL2Hqk|QK|QK1|QK3|hqkI
Cytomap('EZR')('QKI')

6q25.3

6q26

Type of geneprotein-codingprotein-coding
Descriptionezrincytovillin 2epididymis secretory protein Li 105p81villin 2 (ezrin)protein quakingQKI/LOC100132735 fusionRNA binding protein HQKhomolog of mouse quaking QKI (KH domain RNA binding protein)quaking homolog, KH domain RNA binding
Modification date2020032220200327
UniProtAcc

P15311

Q96PU8

Ensembl transtripts involved in fusion geneENST00000476189, ENST00000337147, 
ENST00000367075, ENST00000392177, 
Fusion gene scores* DoF score26 X 22 X 10=572023 X 23 X 9=4761
# samples 3227
** MAII scorelog2(32/5720*10)=-4.15987133677839
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/4761*10)=-4.14023331650551
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointEZR(159239114)-QKI(163876311), # samples:1
Anticipated loss of major functional domain due to fusion event.EZR-QKI seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
EZR-QKI seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
EZR-QKI seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
EZR-QKI seems lost the major protein functional domain in Tgene 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
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
ChimerDB4STADTCGA-HU-A4GN-01AEZRchr6

159239114

-QKIchr6

163876311

+


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Fusion Gene ORF analysis for EZR-QKI

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-3CDSENST00000476189ENST00000275262EZRchr6

159239114

-QKIchr6

163876311

+
5UTR-3CDSENST00000476189ENST00000361195EZRchr6

159239114

-QKIchr6

163876311

+
5UTR-3CDSENST00000476189ENST00000361752EZRchr6

159239114

-QKIchr6

163876311

+
5UTR-3CDSENST00000476189ENST00000392127EZRchr6

159239114

-QKIchr6

163876311

+
5UTR-3CDSENST00000476189ENST00000424802EZRchr6

159239114

-QKIchr6

163876311

+
5UTR-3CDSENST00000476189ENST00000453779EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000337147ENST00000275262EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000337147ENST00000361195EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000337147ENST00000361752EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000337147ENST00000392127EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000337147ENST00000424802EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000337147ENST00000453779EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000367075ENST00000275262EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000367075ENST00000361195EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000367075ENST00000361752EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000367075ENST00000392127EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000367075ENST00000424802EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000367075ENST00000453779EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000392177ENST00000275262EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000392177ENST00000361195EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000392177ENST00000361752EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000392177ENST00000392127EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000392177ENST00000424802EZRchr6

159239114

-QKIchr6

163876311

+
Frame-shiftENST00000392177ENST00000453779EZRchr6

159239114

-QKIchr6

163876311

+

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-QKI


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-QKIchr6163876310+0.043269960.95673
EZRchr6159239113-QKIchr6163876310+0.043269960.95673


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-QKI


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/:163876311)
- 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

QKI

Q96PU8

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}.FUNCTION: RNA-binding protein that plays a central role in myelinization (PubMed:16641098). Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence. Regulates target mRNA stability (PubMed:23630077). In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia (PubMed:16641098). Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity). {ECO:0000250|UniProtKB:Q9QYS9, ECO:0000269|PubMed:16641098, ECO:0000269|PubMed:23630077}.

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-QKI


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-QKI


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-QKI


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-QKI


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
TgeneC0036341Schizophrenia5PSYGENET
TgeneC0017638Glioma1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0259783mixed gliomas1CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC2363903Angiocentric glioma1ORPHANET
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND