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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:EZR-QKI (FusionGDB2 ID:HG7430TG9444) |
Fusion Gene Summary for EZR-QKI |
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Fusion gene information | Fusion gene name: EZR-QKI | Fusion gene ID: hg7430tg9444 | Hgene | Tgene | Gene symbol | EZR | QKI | Gene ID | 7430 | 9444 |
Gene name | ezrin | QKI, KH domain containing RNA binding | |
Synonyms | CVIL|CVL|HEL-S-105|VIL2 | Hqk|QK|QK1|QK3|hqkI | |
Cytomap | ('EZR')('QKI') 6q25.3 | 6q26 | |
Type of gene | protein-coding | protein-coding | |
Description | ezrincytovillin 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 date | 20200322 | 20200327 | |
UniProtAcc | P15311 | Q96PU8 | |
Ensembl transtripts involved in fusion gene | ENST00000476189, ENST00000337147, ENST00000367075, ENST00000392177, | ||
Fusion gene scores | * DoF score | 26 X 22 X 10=5720 | 23 X 23 X 9=4761 |
# samples | 32 | 27 | |
** MAII score | log2(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 breakpoint | EZR(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | EZR | GO:0048015 | phosphatidylinositol-mediated signaling | 25591774 |
Hgene | EZR | GO:0051017 | actin filament bundle assembly | 10793131 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-HU-A4GN-01A | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
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Fusion Gene ORF analysis for EZR-QKI |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000476189 | ENST00000275262 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
5UTR-3CDS | ENST00000476189 | ENST00000361195 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
5UTR-3CDS | ENST00000476189 | ENST00000361752 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
5UTR-3CDS | ENST00000476189 | ENST00000392127 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
5UTR-3CDS | ENST00000476189 | ENST00000424802 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
5UTR-3CDS | ENST00000476189 | ENST00000453779 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000337147 | ENST00000275262 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000337147 | ENST00000361195 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000337147 | ENST00000361752 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000337147 | ENST00000392127 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000337147 | ENST00000424802 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000337147 | ENST00000453779 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000367075 | ENST00000275262 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000367075 | ENST00000361195 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000367075 | ENST00000361752 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000367075 | ENST00000392127 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000367075 | ENST00000424802 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000367075 | ENST00000453779 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000392177 | ENST00000275262 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000392177 | ENST00000361195 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000392177 | ENST00000361752 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000392177 | ENST00000392127 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000392177 | ENST00000424802 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
Frame-shift | ENST00000392177 | ENST00000453779 | EZR | chr6 | 159239114 | - | QKI | chr6 | 163876311 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for EZR-QKI |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
EZR | chr6 | 159239113 | - | QKI | chr6 | 163876310 | + | 0.04326996 | 0.95673 |
EZR | chr6 | 159239113 | - | QKI | chr6 | 163876310 | + | 0.04326996 | 0.95673 |
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Fusion Protein Features for EZR-QKI |
![]() 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. |
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Hgene | Tgene |
EZR | QKI |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for EZR-QKI |
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Fusion Gene PPI Analysis for EZR-QKI |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for EZR-QKI |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for EZR-QKI |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EZR | C0033578 | Prostatic Neoplasms | 3 | CTD_human |
Hgene | EZR | C0376358 | Malignant neoplasm of prostate | 3 | CTD_human |
Hgene | EZR | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | EZR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | EZR | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | EZR | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | EZR | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | EZR | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Hgene | EZR | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |
Hgene | EZR | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | EZR | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | EZR | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | EZR | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | EZR | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Tgene | C0036341 | Schizophrenia | 5 | PSYGENET | |
Tgene | C0017638 | Glioma | 1 | CTD_human | |
Tgene | C0041696 | Unipolar Depression | 1 | PSYGENET | |
Tgene | C0259783 | mixed gliomas | 1 | CTD_human | |
Tgene | C0555198 | Malignant Glioma | 1 | CTD_human | |
Tgene | C1269683 | Major Depressive Disorder | 1 | PSYGENET | |
Tgene | C2363903 | Angiocentric glioma | 1 | ORPHANET | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |