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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180519 | |
| UniProtAcc | P26378 | |
| Context | PubMed: ELAVL4 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for ELAVL4 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for ELAVL4 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ELAVL4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6372 | 1 | 50575487:50575636:50607443:50607530:50610628:50610850 | 50607443:50607530 | ENSG00000162374.12 | ENST00000494555.1 |
| exon_skip_6373 | 1 | 50610628:50610869:50642760:50642864:50659436:50659590 | 50642760:50642864 | ENSG00000162374.12 | ENST00000448907.2,ENST00000371821.1,ENST00000371823.4,ENST00000371819.1,ENST00000357083.4,ENST00000371827.1,ENST00000371824.1 |
| exon_skip_6377 | 1 | 50642801:50642864:50659436:50659590:50661232:50661458 | 50659436:50659590 | ENSG00000162374.12 | ENST00000448907.2,ENST00000371821.1,ENST00000371823.4,ENST00000371819.1,ENST00000357083.4,ENST00000371827.1,ENST00000474675.1,ENST00000371824.1 |
| exon_skip_6378 | 1 | 50661232:50661458:50663100:50663139:50666480:50667074 | 50663100:50663139 | ENSG00000162374.12 | ENST00000371821.1,ENST00000371823.4 |
| exon_skip_6379 | 1 | 50661232:50661458:50663100:50663139:50666522:50667071 | 50663100:50663139 | ENSG00000162374.12 | ENST00000448907.2,ENST00000371819.1,ENST00000357083.4,ENST00000371827.1,ENST00000371824.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ELAVL4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_6372 | 1 | 50575487:50575636:50607443:50607530:50610628:50610850 | 50607443:50607530 | ENSG00000162374.12 | ENST00000494555.1 |
| exon_skip_6373 | 1 | 50610628:50610869:50642760:50642864:50659436:50659590 | 50642760:50642864 | ENSG00000162374.12 | ENST00000448907.2,ENST00000371827.1,ENST00000357083.4,ENST00000371824.1,ENST00000371823.4,ENST00000371821.1,ENST00000371819.1 |
| exon_skip_6377 | 1 | 50642801:50642864:50659436:50659590:50661232:50661458 | 50659436:50659590 | ENSG00000162374.12 | ENST00000448907.2,ENST00000371827.1,ENST00000357083.4,ENST00000371824.1,ENST00000371823.4,ENST00000371821.1,ENST00000371819.1,ENST00000474675.1 |
| exon_skip_6378 | 1 | 50661232:50661458:50663100:50663139:50666480:50667074 | 50663100:50663139 | ENSG00000162374.12 | ENST00000371823.4,ENST00000371821.1 |
| exon_skip_6379 | 1 | 50661232:50661458:50663100:50663139:50666522:50667071 | 50663100:50663139 | ENSG00000162374.12 | ENST00000448907.2,ENST00000371827.1,ENST00000357083.4,ENST00000371824.1,ENST00000371819.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000371823 | 50642760 | 50642864 | Frame-shift |
| ENST00000371823 | 50659436 | 50659590 | Frame-shift |
| ENST00000371823 | 50663100 | 50663139 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000371823 | 50642760 | 50642864 | Frame-shift |
| ENST00000371823 | 50659436 | 50659590 | Frame-shift |
| ENST00000371823 | 50663100 | 50663139 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ELAVL4 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000371823 | 1608 | 380 | 50663100 | 50663139 | 959 | 997 | 245 | 257 |
| Loci of skipped exons in GTEx 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 |
| ENST00000371823 | 1608 | 380 | 50663100 | 50663139 | 959 | 997 | 245 | 257 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| P26378 | 245 | 257 | 1 | 380 | Chain | ID=PRO_0000081583;Note=ELAV-like protein 4 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| P26378 | 245 | 257 | 1 | 380 | Chain | ID=PRO_0000081583;Note=ELAV-like protein 4 |
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SNVs in the skipped exons for ELAVL4 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| TGCT | TCGA-2G-AAHT-01 | exon_skip_6373 | 50642761 | 50642864 | 50642764 | 50642765 | Frame_Shift_Del | AG | - | p.102_102del |
| TGCT | TCGA-2G-AAHT-01 | exon_skip_6373 | 50642761 | 50642864 | 50642764 | 50642765 | Frame_Shift_Del | AG | - | p.Q85fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_6373 | 50642761 | 50642864 | 50642814 | 50642814 | Frame_Shift_Del | A | - | p.K102fs |
| LUAD | TCGA-44-3918-01 | exon_skip_6377 | 50659437 | 50659590 | 50659500 | 50659500 | Frame_Shift_Del | C | - | p.P140fs |
| BLCA | TCGA-E7-A85H-01 | exon_skip_6379 exon_skip_6378 | 50663101 | 50663139 | 50663104 | 50663105 | Frame_Shift_Ins | - | GACAATTT | p.-249fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_6373 | 50642761 | 50642864 | 50642763 | 50642763 | Nonsense_Mutation | C | T | p.Q85* |
| BLCA | TCGA-DK-A3IQ-01 | exon_skip_6373 | 50642761 | 50642864 | 50642770 | 50642770 | Nonsense_Mutation | T | G | p.L87* |
| LUAD | TCGA-95-7562-01 | exon_skip_6377 | 50659437 | 50659590 | 50659564 | 50659564 | Nonsense_Mutation | C | A | p.S161* |
| PAAD | TCGA-YH-A8SY-01 | exon_skip_6373 | 50642761 | 50642864 | 50642759 | 50642759 | Splice_Site | A | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| MCC26_SKIN | 50642761 | 50642864 | 50642796 | 50642796 | Missense_Mutation | G | A | p.D96N |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50642761 | 50642864 | 50642821 | 50642821 | Missense_Mutation | T | A | p.I104N |
| L82_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50642761 | 50642864 | 50642845 | 50642845 | Missense_Mutation | T | C | p.L112P |
| M14_SKIN | 50659437 | 50659590 | 50659473 | 50659473 | Missense_Mutation | G | A | p.D131N |
| RCC10RGB_KIDNEY | 50659437 | 50659590 | 50659500 | 50659500 | Missense_Mutation | C | T | p.P140S |
| NCIH446_LUNG | 50659437 | 50659590 | 50659547 | 50659547 | Nonsense_Mutation | C | A | p.Y155* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ELAVL4 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELAVL4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELAVL4 |
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RelatedDrugs for ELAVL4 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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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