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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 EED |
 Gene summary |
| Gene information | Gene symbol | EED | Gene ID | 8726 |
| Gene name | embryonic ectoderm development | |
| Synonyms | COGIS|HEED|WAIT1 | |
| Cytomap | 11q14.2 | |
| Type of gene | protein-coding | |
| Description | polycomb protein EEDWD protein associating with integrin cytoplasmic tails 1embryonic ectoderm development protein | |
| Modification date | 20200313 | |
| 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 |
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Gene structures and expression levels for EED |
| 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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ENSG00000074266
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 EED |
| 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_146365 | chr11 | 86256387:86256512:86257515:86257596:86264172:86264263 | 86257515:86257596 |
| exon_skip_171955 | chr11 | 86264172:86264263:86266083:86266216:86268456:86268530 | 86266083:86266216 |
| exon_skip_185027 | chr11 | 86268501:86268561:86270083:86270157:86276980:86277138 | 86270083:86270157 |
| exon_skip_226754 | chr11 | 86268456:86268561:86270083:86270157:86276980:86277138 | 86270083:86270157 |
| exon_skip_282658 | chr11 | 86257515:86257596:86264172:86264263:86276980:86277138 | 86264172:86264263 |
| exon_skip_6310 | chr11 | 86250296:86250448:86252148:86252240:86255222:86255287 | 86252148:86252240 |
| exon_skip_83038 | chr11 | 86266083:86266216:86268456:86268561:86276980:86277138 | 86268456:86268561 |
| 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 EED |
| 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 |
| ENST00000263360 | 86257515 | 86257596 | Frame-shift |
| ENST00000263360 | 86268456 | 86268561 | Frame-shift |
| ENST00000263360 | 86252148 | 86252240 | 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 |
| ENST00000263360 | 86257515 | 86257596 | Frame-shift |
| ENST00000263360 | 86268456 | 86268561 | Frame-shift |
| ENST00000263360 | 86252148 | 86252240 | In-frame |
| 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 |
| ENST00000263360 | 86257515 | 86257596 | Frame-shift |
| ENST00000263360 | 86266083 | 86266216 | Frame-shift |
| ENST00000263360 | 86268456 | 86268561 | Frame-shift |
| ENST00000263360 | 86252148 | 86252240 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EED |
p-ENSG00000074266_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 |
| ENST00000263360 | 2240 | 441 | 86252148 | 86252240 | 955 | 1046 | 89 | 120 |
| 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 |
| ENST00000263360 | 2240 | 441 | 86252148 | 86252240 | 955 | 1046 | 89 | 120 |
| 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 |
| ENST00000263360 | 2240 | 441 | 86252148 | 86252240 | 955 | 1046 | 89 | 120 |
| 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 |
| O75530 | 89 | 120 | 83 | 89 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 103 | 105 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5H17 |
| O75530 | 89 | 120 | 107 | 109 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U5K |
| O75530 | 89 | 120 | 111 | 117 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 120 | 126 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 2 | 441 | Chain | ID=PRO_0000343725;Note=Polycomb protein EED |
| O75530 | 89 | 120 | 97 | 97 | Mutagenesis | Note=Abolishes binding to H3K27me3. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20974918;Dbxref=PMID:20974918 |
| O75530 | 89 | 120 | 81 | 441 | Region | Note=Interaction with EZH2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O75530 | 89 | 120 | 91 | 134 | Repeat | Note=WD 1 |
| 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 |
| O75530 | 89 | 120 | 83 | 89 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 103 | 105 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5H17 |
| O75530 | 89 | 120 | 107 | 109 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U5K |
| O75530 | 89 | 120 | 111 | 117 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 120 | 126 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 2 | 441 | Chain | ID=PRO_0000343725;Note=Polycomb protein EED |
| O75530 | 89 | 120 | 97 | 97 | Mutagenesis | Note=Abolishes binding to H3K27me3. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20974918;Dbxref=PMID:20974918 |
| O75530 | 89 | 120 | 81 | 441 | Region | Note=Interaction with EZH2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O75530 | 89 | 120 | 91 | 134 | Repeat | Note=WD 1 |
| 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 |
| O75530 | 89 | 120 | 83 | 89 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 96 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 103 | 105 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5H17 |
| O75530 | 89 | 120 | 107 | 109 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U5K |
| O75530 | 89 | 120 | 111 | 117 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 120 | 126 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5U69 |
| O75530 | 89 | 120 | 2 | 441 | Chain | ID=PRO_0000343725;Note=Polycomb protein EED |
| O75530 | 89 | 120 | 97 | 97 | Mutagenesis | Note=Abolishes binding to H3K27me3. F->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20974918;Dbxref=PMID:20974918 |
| O75530 | 89 | 120 | 81 | 441 | Region | Note=Interaction with EZH2;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O75530 | 89 | 120 | 91 | 134 | Repeat | Note=WD 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EED |
| 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 EED |
| - 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 EED |
| 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 EED |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_146365 | rs10898459 | chr11:86261897 | 7.660861e-06 | 2.072887e-03 |
| CB | exon_skip_146365 | rs291252 | chr11:86282276 | 2.514603e-04 | 3.555371e-02 |
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Correlation with RNA binding proteins (RBPs) for EED |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_6310 | -5.357422e-01 | 4.066213e-13 |
| CB | TRA2A | exon_skip_6310 | -5.755237e-01 | 2.576006e-15 |
| CB | SNRPA | exon_skip_6310 | -4.464790e-01 | 4.104556e-09 |
| CB | FUBP1 | exon_skip_6310 | -5.280391e-01 | 1.005378e-12 |
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RelatedDrugs for EED |
| 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 EED |
| 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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