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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 ELAVL2 |
 Gene summary |
| Gene information | Gene symbol | ELAVL2 | Gene ID | 1993 |
| Gene name | ELAV like RNA binding protein 2 | |
| Synonyms | HEL-N1|HELN1|HUB | |
| Cytomap | 9p21.3 | |
| Type of gene | protein-coding | |
| Description | ELAV-like protein 2ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)ELAV like neuron-specific RNA binding protein 2ELAV-like neuronal protein 1 isoform Hel-N2hu-antigen Bnervous system-specific RNA-binding protein Hel-N1 | |
| 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 ELAVL2 |
| 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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ENSG00000107105
| 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 |
| PG | DOWN | ENST00000462649.1 | ELAVL2-207:lncRNA:ELAVL2 | 1.340401e+01 | -9.430263e-01 | 5.356337e-05 | 1.728069e-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 ELAVL2 |
| 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_165453 | chr9 | 23693448:23693486:23701379:23701604:23704918:23705071 | 23701379:23701604 |
| exon_skip_197581 | chr9 | 23690104:23692887:23693448:23693486:23701379:23701604 | 23693448:23693486 |
| exon_skip_222500 | chr9 | 23691811:23692884:23693448:23693486:23701379:23701604 | 23693448:23693486 |
| exon_skip_2593 | chr9 | 23731022:23731125:23762006:23762246:23825806:23826174 | 23762006:23762246 |
| exon_skip_263439 | chr9 | 23731022:23731125:23762006:23762249:23825806:23826174 | 23762006:23762249 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_287727 | Mayo_CB | 2.302667e-01 | 3.733333e-01 | -1.430667e-01 | 9.132166e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for ELAVL2 |
| 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 |
| ENST00000380117 | 23701379 | 23701604 | Frame-shift |
| ENST00000397312 | 23701379 | 23701604 | Frame-shift |
| ENST00000544538 | 23701379 | 23701604 | Frame-shift |
| ENST00000380117 | 23693448 | 23693486 | In-frame |
| ENST00000397312 | 23693448 | 23693486 | In-frame |
| ENST00000544538 | 23693448 | 23693486 | 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 |
| ENST00000380117 | 23701379 | 23701604 | Frame-shift |
| ENST00000397312 | 23701379 | 23701604 | Frame-shift |
| ENST00000544538 | 23701379 | 23701604 | Frame-shift |
| ENST00000380117 | 23693448 | 23693486 | In-frame |
| ENST00000397312 | 23693448 | 23693486 | In-frame |
| ENST00000544538 | 23693448 | 23693486 | 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 |
| ENST00000380117 | 23762006 | 23762246 | 3UTR-3CDS |
| ENST00000397312 | 23762006 | 23762249 | 3UTR-3CDS |
| ENST00000380117 | 23693448 | 23693486 | In-frame |
| ENST00000397312 | 23693448 | 23693486 | In-frame |
| ENST00000544538 | 23693448 | 23693486 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ELAVL2 |
p-ENSG00000107105_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 |
| ENST00000380117 | 2387 | 359 | 23693448 | 23693486 | 1258 | 1295 | 238 | 250 |
| ENST00000397312 | 3822 | 359 | 23693448 | 23693486 | 989 | 1026 | 238 | 250 |
| ENST00000544538 | 3806 | 359 | 23693448 | 23693486 | 973 | 1010 | 238 | 250 |
| 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 |
| ENST00000380117 | 2387 | 359 | 23693448 | 23693486 | 1258 | 1295 | 238 | 250 |
| ENST00000397312 | 3822 | 359 | 23693448 | 23693486 | 989 | 1026 | 238 | 250 |
| ENST00000544538 | 3806 | 359 | 23693448 | 23693486 | 973 | 1010 | 238 | 250 |
| 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 |
| ENST00000380117 | 2387 | 359 | 23693448 | 23693486 | 1258 | 1295 | 238 | 250 |
| ENST00000397312 | 3822 | 359 | 23693448 | 23693486 | 989 | 1026 | 238 | 250 |
| ENST00000544538 | 3806 | 359 | 23693448 | 23693486 | 973 | 1010 | 238 | 250 |
| 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 |
| Q12926 | 238 | 250 | 239 | 251 | Alternative sequence | ID=VSP_005788;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7972035;Dbxref=PMID:15489334,PMID:7972035 |
| Q12926 | 238 | 250 | 239 | 251 | Alternative sequence | ID=VSP_005788;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7972035;Dbxref=PMID:15489334,PMID:7972035 |
| Q12926 | 238 | 250 | 239 | 251 | Alternative sequence | ID=VSP_005788;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7972035;Dbxref=PMID:15489334,PMID:7972035 |
| Q12926 | 238 | 250 | 1 | 359 | Chain | ID=PRO_0000081579;Note=ELAV-like protein 2 |
| Q12926 | 238 | 250 | 1 | 359 | Chain | ID=PRO_0000081579;Note=ELAV-like protein 2 |
| Q12926 | 238 | 250 | 1 | 359 | Chain | ID=PRO_0000081579;Note=ELAV-like protein 2 |
| 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 |
| Q12926 | 238 | 250 | 239 | 251 | Alternative sequence | ID=VSP_005788;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7972035;Dbxref=PMID:15489334,PMID:7972035 |
| Q12926 | 238 | 250 | 239 | 251 | Alternative sequence | ID=VSP_005788;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7972035;Dbxref=PMID:15489334,PMID:7972035 |
| Q12926 | 238 | 250 | 239 | 251 | Alternative sequence | ID=VSP_005788;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7972035;Dbxref=PMID:15489334,PMID:7972035 |
| Q12926 | 238 | 250 | 1 | 359 | Chain | ID=PRO_0000081579;Note=ELAV-like protein 2 |
| Q12926 | 238 | 250 | 1 | 359 | Chain | ID=PRO_0000081579;Note=ELAV-like protein 2 |
| Q12926 | 238 | 250 | 1 | 359 | Chain | ID=PRO_0000081579;Note=ELAV-like protein 2 |
| 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 |
| Q12926 | 238 | 250 | 239 | 251 | Alternative sequence | ID=VSP_005788;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7972035;Dbxref=PMID:15489334,PMID:7972035 |
| Q12926 | 238 | 250 | 239 | 251 | Alternative sequence | ID=VSP_005788;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7972035;Dbxref=PMID:15489334,PMID:7972035 |
| Q12926 | 238 | 250 | 239 | 251 | Alternative sequence | ID=VSP_005788;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7972035;Dbxref=PMID:15489334,PMID:7972035 |
| Q12926 | 238 | 250 | 1 | 359 | Chain | ID=PRO_0000081579;Note=ELAV-like protein 2 |
| Q12926 | 238 | 250 | 1 | 359 | Chain | ID=PRO_0000081579;Note=ELAV-like protein 2 |
| Q12926 | 238 | 250 | 1 | 359 | Chain | ID=PRO_0000081579;Note=ELAV-like protein 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ELAVL2 |
| 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 ELAVL2 |
| - 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 ELAVL2 |
| 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 ELAVL2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_222500 | rs16907484 | chr9:23655354 | 7.234241e-04 | 4.536210e-02 |
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Correlation with RNA binding proteins (RBPs) for ELAVL2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_287727 | -5.022460e-01 | 1.325230e-09 |
| CB | ZNF638 | exon_skip_287727 | -6.824949e-01 | 5.254595e-19 |
| CB | RBM45 | exon_skip_287727 | 7.263878e-01 | 2.001884e-22 |
| IFG | KHDRBS2 | exon_skip_287727 | -4.512158e-01 | 2.068547e-02 |
| IFG | RBM24 | exon_skip_287727 | -4.289631e-01 | 2.876570e-02 |
| IFG | ENOX1 | exon_skip_287727 | -4.274706e-01 | 2.938759e-02 |
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RelatedDrugs for ELAVL2 |
| 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 ELAVL2 |
| 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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