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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 ELAVL4 |
 Gene summary |
| Gene information | Gene symbol | ELAVL4 | Gene ID | 1996 |
| Gene name | ELAV like RNA binding protein 4 | |
| Synonyms | HUD|PNEM | |
| Cytomap | 1p33-p32.3 | |
| Type of gene | protein-coding | |
| Description | ELAV-like protein 4ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)ELAV like neuron-specific RNA binding protein 4Hu antigen Dparaneoplastic encephalomyelitis antigen HuD | |
| Modification date | 20200320 | |
| UniProtAcc | A0A0R4J2E6, A0A494BZW4, | |
| 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 ELAVL4 |
| 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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ENSG00000162374
| 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 |
| STG | UP | ENST00000371819.1 | ELAVL4-202:protein_coding:ELAVL4 | 4.494134e+01 | 1.591408e+00 | 9.883635e-04 | 3.818614e-02 |
| PG | DOWN | ENST00000371824.6 | ELAVL4-205:protein_coding:ELAVL4 | 2.282665e+02 | -8.182497e-01 | 5.075925e-04 | 8.923852e-03 |
| PG | DOWN | ENST00000492299.2 | ELAVL4-210:lncRNA:ELAVL4 | 9.464982e+00 | -1.125148e+00 | 7.833728e-04 | 1.221743e-02 |
| PG | DOWN | ENST00000652274.1 | ELAVL4-217:protein_coding:ELAVL4 | 2.492368e+01 | -1.248333e+00 | 2.364276e-03 | 2.691125e-02 |
| CB | UP | ENST00000650764.1 | ELAVL4-212:protein_coding:ELAVL4 | 1.041523e+01 | 8.248290e-01 | 7.884870e-04 | 4.230150e-03 |
| CB | UP | ENST00000651258.1 | ELAVL4-213:protein_coding:ELAVL4 | 1.378221e+01 | 9.085843e-01 | 1.530369e-02 | 4.901986e-02 |
| 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 ELAVL4 |
| 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_114996 | chr1 | 50145060:50145197:50177089:50177192:50193765:50193918 | 50177089:50177192 |
| exon_skip_118910 | chr1 | 50177130:50177192:50193765:50193918:50195561:50195708 | 50193765:50193918 |
| exon_skip_204911 | chr1 | 50195561:50195786:50197429:50197467:50200851:50200862 | 50197429:50197467 |
| exon_skip_209251 | chr1 | 50195561:50195786:50197429:50197467:50200851:50201116 | 50197429:50197467 |
| exon_skip_80151 | chr1 | 50108920:50109198:50141772:50141858:50144957:50145197 | 50141772:50141858 |
| 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 ELAVL4 |
| 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 |
| ENST00000371823 | 50177089 | 50177192 | Frame-shift |
| ENST00000371823 | 50193765 | 50193918 | Frame-shift |
| 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 |
| ENST00000371823 | 50177089 | 50177192 | Frame-shift |
| 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 |
| ENST00000371823 | 50177089 | 50177192 | Frame-shift |
| ENST00000371823 | 50193765 | 50193918 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ELAVL4 |
p-ENSG00000162374_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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ELAVL4 |
| 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 ELAVL4 |
| - 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 ELAVL4 |
| 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 ELAVL4 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| PCC | exon_skip_209251 | rs3902720 | chr1:50139665 | 3.608263e-04 | 4.695279e-02 |
| DLPFC | exon_skip_209251 | rs12122035 | chr1:50260380 | 5.463248e-04 | 3.472593e-02 |
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Correlation with RNA binding proteins (RBPs) for ELAVL4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_80151 | -4.516031e-01 | 4.577387e-07 |
| CB | RBM45 | exon_skip_80151 | 4.058193e-01 | 7.480908e-06 |
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RelatedDrugs for ELAVL4 |
| 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 ELAVL4 |
| 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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