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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 EDC4 |
 Gene summary |
| Gene information | Gene symbol | EDC4 | Gene ID | 23644 |
| Gene name | enhancer of mRNA decapping 4 | |
| Synonyms | GE1|Ge-1|HEDL5|HEDLS|RCD-8|RCD8 | |
| Cytomap | 16q22.1 | |
| Type of gene | protein-coding | |
| Description | enhancer of mRNA-decapping protein 4autoantigen Ge-1autoantigen RCD-8human enhancer of decapping large subunit | |
| Modification date | 20180523 | |
| UniProtAcc | Q6P2E9 | |
| Context | PubMed: EDC4 [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 EDC4 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 EDC4 |
| 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 EDC4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137860 | 16 | 67906954:67907246:67909640:67909740:67909847:67910004 | 67909640:67909740 | ENSG00000038358.10 | ENST00000572221.1 |
| exon_skip_137864 | 16 | 67911411:67911559:67911643:67911748:67912068:67912178 | 67911643:67911748 | ENSG00000038358.10 | ENST00000358933.5,ENST00000536072.2,ENST00000573992.1,ENST00000574770.1 |
| exon_skip_137865 | 16 | 67915167:67915320:67915399:67915436:67915570:67915699 | 67915399:67915436 | ENSG00000038358.10 | ENST00000358933.5,ENST00000575514.1,ENST00000573992.1,ENST00000572221.1 |
| exon_skip_137869 | 16 | 67916389:67916497:67916581:67916768:67916860:67916909 | 67916581:67916768 | ENSG00000038358.10 | ENST00000358933.5,ENST00000573992.1,ENST00000572221.1 |
| exon_skip_137874 | 16 | 67916682:67916768:67916860:67917080:67917470:67917634 | 67916860:67917080 | ENSG00000038358.10 | ENST00000358933.5,ENST00000573992.1,ENST00000572221.1 |
| exon_skip_137875 | 16 | 67916860:67916909:67917017:67917080:67917470:67917634 | 67917017:67917080 | ENSG00000038358.10 | ENST00000575033.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EDC4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_137860 | 16 | 67906954:67907246:67909640:67909740:67909847:67910004 | 67909640:67909740 | ENSG00000038358.10 | ENST00000572221.1 |
| exon_skip_137864 | 16 | 67911411:67911559:67911643:67911748:67912068:67912178 | 67911643:67911748 | ENSG00000038358.10 | ENST00000358933.5,ENST00000536072.2,ENST00000574770.1,ENST00000573992.1 |
| exon_skip_137865 | 16 | 67915167:67915320:67915399:67915436:67915570:67915699 | 67915399:67915436 | ENSG00000038358.10 | ENST00000358933.5,ENST00000572221.1,ENST00000573992.1,ENST00000575514.1 |
| exon_skip_137869 | 16 | 67916389:67916497:67916581:67916768:67916860:67916909 | 67916581:67916768 | ENSG00000038358.10 | ENST00000358933.5,ENST00000572221.1,ENST00000573992.1 |
| exon_skip_137874 | 16 | 67916682:67916768:67916860:67917080:67917470:67917634 | 67916860:67917080 | ENSG00000038358.10 | ENST00000358933.5,ENST00000572221.1,ENST00000573992.1 |
| exon_skip_137875 | 16 | 67916860:67916909:67917017:67917080:67917470:67917634 | 67917017:67917080 | ENSG00000038358.10 | ENST00000575033.1 |
| 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 EDC4 |
| 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 |
| ENST00000358933 | 67915399 | 67915436 | Frame-shift |
| ENST00000358933 | 67916581 | 67916768 | Frame-shift |
| ENST00000358933 | 67916860 | 67917080 | Frame-shift |
| ENST00000358933 | 67911643 | 67911748 | 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 |
| ENST00000358933 | 67915399 | 67915436 | Frame-shift |
| ENST00000358933 | 67916581 | 67916768 | Frame-shift |
| ENST00000358933 | 67916860 | 67917080 | Frame-shift |
| ENST00000358933 | 67911643 | 67911748 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EDC4 |
| 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 |
| ENST00000358933 | 4817 | 1401 | 67911643 | 67911748 | 1029 | 1133 | 263 | 298 |
| 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 |
| ENST00000358933 | 4817 | 1401 | 67911643 | 67911748 | 1029 | 1133 | 263 | 298 |
| 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 |
| Q6P2E9 | 263 | 298 | 1 | 381 | Alternative sequence | ID=VSP_023412;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6P2E9 | 263 | 298 | 2 | 1401 | Chain | ID=PRO_0000278962;Note=Enhancer of mRNA-decapping protein 4 |
| Q6P2E9 | 263 | 298 | 217 | 269 | Repeat | Note=WD 3 |
| Q6P2E9 | 263 | 298 | 287 | 326 | Repeat | Note=WD 4 |
| Q6P2E9 | 263 | 298 | 271 | 272 | Sequence conflict | Note=ML->IV;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q6P2E9 | 263 | 298 | 1 | 381 | Alternative sequence | ID=VSP_023412;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6P2E9 | 263 | 298 | 2 | 1401 | Chain | ID=PRO_0000278962;Note=Enhancer of mRNA-decapping protein 4 |
| Q6P2E9 | 263 | 298 | 217 | 269 | Repeat | Note=WD 3 |
| Q6P2E9 | 263 | 298 | 287 | 326 | Repeat | Note=WD 4 |
| Q6P2E9 | 263 | 298 | 271 | 272 | Sequence conflict | Note=ML->IV;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for EDC4 |
| - 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 |
| BLCA | TCGA-BL-A13J-01 | exon_skip_137864 | 67911644 | 67911748 | 67911712 | 67911712 | Frame_Shift_Del | C | - | p.I286fs |
| LUAD | TCGA-86-8279-01 | exon_skip_137864 | 67911644 | 67911748 | 67911713 | 67911713 | Nonsense_Mutation | A | T | p.K287* |
| - 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 |
| NCIH650_LUNG | 67915400 | 67915436 | 67915412 | 67915412 | Missense_Mutation | G | T | p.M934I |
| EFO27_OVARY | 67916582 | 67916768 | 67916623 | 67916623 | Missense_Mutation | C | T | p.R1162W |
| OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67916582 | 67916768 | 67916647 | 67916647 | Missense_Mutation | G | C | p.V1170L |
| CW2_LARGE_INTESTINE | 67916861 | 67917080 | 67916867 | 67916867 | Missense_Mutation | G | T | p.Q1212H |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67916861 | 67917080 | 67916892 | 67916892 | Missense_Mutation | C | T | p.R1221C |
| 22RV1_PROSTATE | 67916861 | 67917080 | 67916893 | 67916893 | Missense_Mutation | G | A | p.R1221H |
| CW2_LARGE_INTESTINE | 67915400 | 67915436 | 67915428 | 67915428 | Nonsense_Mutation | G | T | p.E940* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EDC4 |
| 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 EDC4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EDC4 |
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RelatedDrugs for EDC4 |
| 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 EDC4 |
| 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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