|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for EML6 |
 Gene summary |
| Gene information | Gene symbol | EML6 | Gene ID | 400954 |
| Gene name | EMAP like 6 | |
| Synonyms | - | |
| Cytomap | 2p16.1 | |
| Type of gene | protein-coding | |
| Description | echinoderm microtubule-associated protein-like 6EMAP-6echinoderm microtubule associated protein like 6 | |
| Modification date | 20200313 | |
| UniProtAcc | Q6ZMW3, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for EML6 |
| 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. |
 |
ENSG00000214595
| 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 |
| CB | DOWN | ENST00000466608.2 | EML6-202:lncRNA:EML6 | 3.820014e+01 | -1.498359e+00 | 6.152394e-10 | 2.927001e-08 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EML6 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_164222 | chr2 | 54964644:54964733:54966723:54966880:54967000:54967103 | 54966723:54966880 |
| exon_skip_200095 | chr2 | 54724542:54725258:54813232:54813391:54816787:54816862 | 54813232:54813391 |
| exon_skip_21257 | chr2 | 54950650:54950779:54952594:54952692:54953983:54954156 | 54952594:54952692 |
| exon_skip_213 | chr2 | 54959104:54959261:54960220:54960334:54962523:54962711 | 54960220:54960334 |
| exon_skip_236238 | chr2 | 54871500:54871605:54879547:54879640:54891054:54891154 | 54879547:54879640 |
| exon_skip_251102 | chr2 | 54928625:54928751:54948882:54948960:54950650:54950779 | 54948882:54948960 |
| exon_skip_274711 | chr2 | 54844047:54844248:54847486:54847623:54849962:54850218 | 54847486:54847623 |
| exon_skip_36760 | chr2 | 54829342:54829477:54844047:54844248:54847486:54847623 | 54844047:54844248 |
| exon_skip_38186 | chr2 | 54964571:54964733:54967000:54967103:54968128:54968235 | 54967000:54967103 |
| exon_skip_79792 | chr2 | 54957790:54957998:54959104:54959261:54960220:54960238 | 54959104:54959261 |
| exon_skip_94229 | chr2 | 54964571:54964733:54966723:54966880:54967000:54967231 | 54966723:54966880 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for EML6 |
| 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 |
| ENST00000356458 | 54844047 | 54844248 | Frame-shift |
| ENST00000356458 | 54879547 | 54879640 | Frame-shift |
| ENST00000356458 | 54847486 | 54847623 | In-frame |
| ENST00000356458 | 54952594 | 54952692 | 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 |
| ENST00000356458 | 54813232 | 54813391 | Frame-shift |
| ENST00000356458 | 54844047 | 54844248 | Frame-shift |
| ENST00000356458 | 54879547 | 54879640 | Frame-shift |
| ENST00000356458 | 54960220 | 54960334 | Frame-shift |
| ENST00000356458 | 54967000 | 54967103 | Frame-shift |
| ENST00000356458 | 54847486 | 54847623 | In-frame |
| ENST00000356458 | 54952594 | 54952692 | 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 |
| ENST00000356458 | 54844047 | 54844248 | Frame-shift |
| ENST00000356458 | 54879547 | 54879640 | Frame-shift |
| ENST00000356458 | 54948882 | 54948960 | Frame-shift |
| ENST00000356458 | 54959104 | 54959261 | Frame-shift |
| ENST00000356458 | 54960220 | 54960334 | Frame-shift |
| ENST00000356458 | 54847486 | 54847623 | In-frame |
| ENST00000356458 | 54952594 | 54952692 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for EML6 |
p-ENSG00000214595_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 |
| ENST00000356458 | 8337 | 1958 | 54847486 | 54847623 | 1571 | 1707 | 350 | 395 |
| ENST00000356458 | 8337 | 1958 | 54952594 | 54952692 | 4735 | 4832 | 1405 | 1437 |
| 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 |
| ENST00000356458 | 8337 | 1958 | 54847486 | 54847623 | 1571 | 1707 | 350 | 395 |
| ENST00000356458 | 8337 | 1958 | 54952594 | 54952692 | 4735 | 4832 | 1405 | 1437 |
| 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 |
| ENST00000356458 | 8337 | 1958 | 54847486 | 54847623 | 1571 | 1707 | 350 | 395 |
| ENST00000356458 | 8337 | 1958 | 54952594 | 54952692 | 4735 | 4832 | 1405 | 1437 |
| 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 |
| Q6ZMW3 | 350 | 395 | 1 | 1958 | Chain | ID=PRO_0000325976;Note=Echinoderm microtubule-associated protein-like 6 |
| Q6ZMW3 | 350 | 395 | 323 | 362 | Repeat | Note=WD 7 |
| Q6ZMW3 | 350 | 395 | 364 | 403 | Repeat | Note=WD 8 |
| Q6ZMW3 | 1405 | 1437 | 1 | 1958 | Chain | ID=PRO_0000325976;Note=Echinoderm microtubule-associated protein-like 6 |
| Q6ZMW3 | 1405 | 1437 | 1412 | 1456 | Repeat | Note=WD 21 |
| 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 |
| Q6ZMW3 | 350 | 395 | 1 | 1958 | Chain | ID=PRO_0000325976;Note=Echinoderm microtubule-associated protein-like 6 |
| Q6ZMW3 | 350 | 395 | 323 | 362 | Repeat | Note=WD 7 |
| Q6ZMW3 | 350 | 395 | 364 | 403 | Repeat | Note=WD 8 |
| Q6ZMW3 | 1405 | 1437 | 1 | 1958 | Chain | ID=PRO_0000325976;Note=Echinoderm microtubule-associated protein-like 6 |
| Q6ZMW3 | 1405 | 1437 | 1412 | 1456 | Repeat | Note=WD 21 |
| 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 |
| Q6ZMW3 | 350 | 395 | 1 | 1958 | Chain | ID=PRO_0000325976;Note=Echinoderm microtubule-associated protein-like 6 |
| Q6ZMW3 | 350 | 395 | 323 | 362 | Repeat | Note=WD 7 |
| Q6ZMW3 | 350 | 395 | 364 | 403 | Repeat | Note=WD 8 |
| Q6ZMW3 | 1405 | 1437 | 1 | 1958 | Chain | ID=PRO_0000325976;Note=Echinoderm microtubule-associated protein-like 6 |
| Q6ZMW3 | 1405 | 1437 | 1412 | 1456 | Repeat | Note=WD 21 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in EML6 |
| 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 |
Top |
SNVs in the skipped exons for EML6 |
| - 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 |
Top |
AD stage-associated exon skippint events for EML6 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EML6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for EML6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for EML6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for EML6 |
| 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)
|