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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 EML4 |
 Gene summary |
| Gene information | Gene symbol | EML4 | Gene ID | 27436 |
| Gene name | EMAP like 4 | |
| Synonyms | C2orf2|ELP120|EMAP-4|EMAPL4|ROPP120 | |
| Cytomap | 2p21 | |
| Type of gene | protein-coding | |
| Description | echinoderm microtubule-associated protein-like 4echinoderm microtubule associated protein like 4restrictedly overexpressed proliferation-associated proteinropp 120 | |
| 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 EML4 |
| 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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ENSG00000143924
| 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 EML4 |
| 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_186462 | chr2 | 42256501:42256630:42261121:42261294:42263178:42263306 | 42261121:42261294 |
| exon_skip_281548 | chr2 | 42315962:42316050:42317427:42317524:42325467:42325554 | 42317427:42317524 |
| exon_skip_286266 | chr2 | 42245505:42245687:42256501:42256630:42263178:42263306 | 42256501:42256630 |
| exon_skip_40490 | chr2 | 42264706:42264731:42264919:42264951:42280850:42280973 | 42264919:42264951 |
| exon_skip_70789 | chr2 | 42169461:42169636:42245505:42245687:42256501:42256630 | 42245505:42245687 |
| exon_skip_75172 | chr2 | 42303315:42303446:42304484:42304551:42315962:42316050 | 42304484:42304551 |
| 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 EML4 |
| 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 |
| ENST00000318522 | 42245505 | 42245687 | In-frame |
| ENST00000318522 | 42261121 | 42261294 | 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 |
| ENST00000318522 | 42261121 | 42261294 | 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 |
| ENST00000318522 | 42304484 | 42304551 | Frame-shift |
| ENST00000318522 | 42317427 | 42317524 | Frame-shift |
| ENST00000318522 | 42261121 | 42261294 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EML4 |
p-ENSG00000143924_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 |
| ENST00000318522 | 5566 | 981 | 42245505 | 42245687 | 289 | 470 | 9 | 69 |
| ENST00000318522 | 5566 | 981 | 42261121 | 42261294 | 602 | 774 | 113 | 170 |
| 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 |
| ENST00000318522 | 5566 | 981 | 42261121 | 42261294 | 602 | 774 | 113 | 170 |
| 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 |
| ENST00000318522 | 5566 | 981 | 42261121 | 42261294 | 602 | 774 | 113 | 170 |
| 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 |
| Q9HC35 | 9 | 69 | 1 | 981 | Chain | ID=PRO_0000050963;Note=Echinoderm microtubule-associated protein-like 4 |
| Q9HC35 | 9 | 69 | 18 | 43 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CGC |
| Q9HC35 | 9 | 69 | 13 | 13 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q9HC35 | 9 | 69 | 16 | 16 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q9HC35 | 9 | 69 | 61 | 61 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163 |
| Q9HC35 | 113 | 170 | 112 | 169 | Alternative sequence | ID=VSP_047192;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HC35 | 113 | 170 | 1 | 981 | Chain | ID=PRO_0000050963;Note=Echinoderm microtubule-associated protein-like 4 |
| Q9HC35 | 113 | 170 | 144 | 144 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID |
| Q9HC35 | 113 | 170 | 146 | 146 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:21406692,PMID:23186163 |
| 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 |
| Q9HC35 | 113 | 170 | 112 | 169 | Alternative sequence | ID=VSP_047192;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HC35 | 113 | 170 | 1 | 981 | Chain | ID=PRO_0000050963;Note=Echinoderm microtubule-associated protein-like 4 |
| Q9HC35 | 113 | 170 | 144 | 144 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID |
| Q9HC35 | 113 | 170 | 146 | 146 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:21406692,PMID:23186163 |
| 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 |
| Q9HC35 | 113 | 170 | 112 | 169 | Alternative sequence | ID=VSP_047192;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9HC35 | 113 | 170 | 1 | 981 | Chain | ID=PRO_0000050963;Note=Echinoderm microtubule-associated protein-like 4 |
| Q9HC35 | 113 | 170 | 144 | 144 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:21406692,PMID |
| Q9HC35 | 113 | 170 | 146 | 146 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:21406692,PMID:23186163 |
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3'-UTR located exon skipping events that lost miRNA binding sites in EML4 |
| 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 EML4 |
| - 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 EML4 |
| 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 EML4 |
| 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 EML4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_281548 | -4.619681e-01 | 5.177133e-08 |
| CB | PCBP1 | exon_skip_281548 | -4.142025e-01 | 1.425277e-06 |
| CB | TRA2A | exon_skip_281548 | -5.199838e-01 | 4.379151e-10 |
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RelatedDrugs for EML4 |
| 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 EML4 |
| 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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