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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for EZR |
 Gene summary |
| Gene information | Gene symbol | EZR | Gene ID | 7430 |
| Gene name | ezrin | |
| Synonyms | CVIL|CVL|HEL-S-105|VIL2 | |
| Cytomap | 6q25.3 | |
| Type of gene | protein-coding | |
| Description | ezrincytovillin 2epididymis secretory protein Li 105p81villin 2 (ezrin) | |
| Modification date | 20200322 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| EZR | GO:0048015 | phosphatidylinositol-mediated signaling | 25591774 |
| EZR | GO:0051017 | actin filament bundle assembly | 10793131 |
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Gene structures and expression levels for EZR |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000092820
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000392177.8 | EZR-203:protein_coding:EZR | 1.762742e+02 | 1.154241e+00 | 3.364962e-07 | 1.166567e-04 |
| CB | DOWN | ENST00000392177.8 | EZR-203:protein_coding:EZR | 1.312980e+02 | -1.738097e+00 | 3.845486e-05 | 3.291163e-04 |
| TC | UP | ENST00000367075.4 | EZR-202:protein_coding:EZR | 2.380793e+03 | 9.885572e-01 | 1.189242e-14 | 8.058490e-12 |
| TC | UP | ENST00000476189.1 | EZR-204:lncRNA:EZR | 2.705839e+00 | 1.449116e+00 | 1.506713e-06 | 5.600037e-05 |
| TC | DOWN | ENST00000392177.8 | EZR-203:protein_coding:EZR | 4.095060e+02 | -9.007928e-01 | 3.342755e-04 | 4.183776e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EZR |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_109199 | chr6 | 158789288:158789371:158818082:158818166:158819317:158819349 | 158818082:158818166 |
| exon_skip_231119 | chr6 | 158787108:158787203:158789288:158789371:158818082:158818166 | 158789288:158789371 |
| exon_skip_240839 | chr6 | 158771244:158771407:158776408:158776504:158783520:158783666 | 158776408:158776504 |
| exon_skip_246878 | chr6 | 158785309:158785583:158787108:158787203:158789288:158789371 | 158787108:158787203 |
| exon_skip_24730 | chr6 | 158787108:158787203:158788314:158788479:158789288:158789371 | 158788314:158788479 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for EZR |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000337147 | 158787108 | 158787203 | In-frame |
| ENST00000367075 | 158787108 | 158787203 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000367075 | 158818082 | 158818166 | 3UTR-3CDS |
| ENST00000337147 | 158776408 | 158776504 | Frame-shift |
| ENST00000367075 | 158776408 | 158776504 | Frame-shift |
| ENST00000337147 | 158787108 | 158787203 | In-frame |
| ENST00000367075 | 158787108 | 158787203 | In-frame |
| ENST00000367075 | 158789288 | 158789371 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EZR |
p-ENSG00000092820_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000337147 | 3085 | 586 | 158787108 | 158787203 | 231 | 325 | 32 | 63 |
| ENST00000367075 | 3113 | 586 | 158787108 | 158787203 | 266 | 360 | 32 | 63 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000367075 | 3113 | 586 | 158789288 | 158789371 | 182 | 264 | 4 | 31 |
| ENST00000337147 | 3085 | 586 | 158787108 | 158787203 | 231 | 325 | 32 | 63 |
| ENST00000367075 | 3113 | 586 | 158787108 | 158787203 | 266 | 360 | 32 | 63 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P15311 | 32 | 63 | 45 | 51 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 45 | 51 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 56 | 58 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 56 | 58 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 61 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RM8 |
| P15311 | 32 | 63 | 61 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RM8 |
| P15311 | 32 | 63 | 1 | 586 | Chain | ID=PRO_0000219408;Note=Ezrin |
| P15311 | 32 | 63 | 1 | 586 | Chain | ID=PRO_0000219408;Note=Ezrin |
| P15311 | 32 | 63 | 2 | 295 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P15311 | 32 | 63 | 2 | 295 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P15311 | 32 | 63 | 26 | 37 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 26 | 37 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 42 | 44 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 42 | 44 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 60 | 60 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P15311 | 32 | 63 | 60 | 60 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P15311 | 4 | 31 | 5 | 10 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 4 | 31 | 15 | 20 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 4 | 31 | 1 | 586 | Chain | ID=PRO_0000219408;Note=Ezrin |
| P15311 | 4 | 31 | 2 | 295 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P15311 | 4 | 31 | 26 | 37 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 45 | 51 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 45 | 51 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 56 | 58 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 56 | 58 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 61 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RM8 |
| P15311 | 32 | 63 | 61 | 64 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RM8 |
| P15311 | 32 | 63 | 1 | 586 | Chain | ID=PRO_0000219408;Note=Ezrin |
| P15311 | 32 | 63 | 1 | 586 | Chain | ID=PRO_0000219408;Note=Ezrin |
| P15311 | 32 | 63 | 2 | 295 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P15311 | 32 | 63 | 2 | 295 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| P15311 | 32 | 63 | 26 | 37 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 26 | 37 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 42 | 44 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 42 | 44 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4RMA |
| P15311 | 32 | 63 | 60 | 60 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P15311 | 32 | 63 | 60 | 60 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EZR |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for EZR |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for EZR |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EZR |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for EZR |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for EZR |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EZR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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