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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 ELL |
 Gene summary |
| Gene information | Gene symbol | ELL | Gene ID | 8178 |
| Gene name | elongation factor for RNA polymerase II | |
| Synonyms | C19orf17|ELL1|MEN|PPP1R68 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | RNA polymerase II elongation factor ELLELL gene (11-19 lysine-rich leukemia gene)eleven-nineteen lysine-rich leukemia proteinelongation factor RNA polymerase IIprotein phosphatase 1, regulatory subunit 68 | |
| Modification date | 20180519 | |
| UniProtAcc | P55199 | |
| Context | PubMed: ELL [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 |
| ELL | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
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Exon skipping events across known transcript of Ensembl for ELL 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 ELL |
| 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 ELL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_316480 | 19 | 18562361:18562458:18569014:18569139:18572387:18572662 | 18569014:18569139 | ENSG00000105656.8 | ENST00000594635.2,ENST00000262809.4,ENST00000596124.3 |
| exon_skip_316481 | 19 | 18576221:18576385:18576606:18576728:18583644:18583692 | 18576606:18576728 | ENSG00000105656.8 | ENST00000262809.4,ENST00000596124.3 |
| exon_skip_316482 | 19 | 18576606:18576728:18581785:18581845:18583644:18583692 | 18581785:18581845 | ENSG00000105656.8 | ENST00000594635.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ELL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_316480 | 19 | 18562361:18562458:18569014:18569139:18572387:18572662 | 18569014:18569139 | ENSG00000105656.8 | ENST00000262809.4,ENST00000594635.2,ENST00000596124.3 |
| exon_skip_316481 | 19 | 18576221:18576385:18576606:18576728:18583644:18583692 | 18576606:18576728 | ENSG00000105656.8 | ENST00000262809.4,ENST00000596124.3 |
| exon_skip_316482 | 19 | 18576606:18576728:18581785:18581845:18583644:18583692 | 18581785:18581845 | ENSG00000105656.8 | ENST00000594635.2 |
| 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 ELL |
| 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 |
| ENST00000262809 | 18569014 | 18569139 | Frame-shift |
| ENST00000262809 | 18576606 | 18576728 | Frame-shift |
| 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 |
| ENST00000262809 | 18569014 | 18569139 | Frame-shift |
| ENST00000262809 | 18576606 | 18576728 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ELL |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for ELL |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_316481 | 18576607 | 18576728 | 18576658 | 18576658 | Frame_Shift_Del | C | - | p.G85fs |
| - 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 |
| T3M10_LUNG | 18569015 | 18569139 | 18569071 | 18569071 | Missense_Mutation | C | G | p.K271N |
| NCIH1770_LUNG | 18576607 | 18576728 | 18576671 | 18576672 | Missense_Mutation | GG | AA | p.L81F |
| NCIH2106_LUNG | 18576607 | 18576728 | 18576671 | 18576671 | Missense_Mutation | G | A | p.L81F |
| RL952_ENDOMETRIUM | 18576607 | 18576728 | 18576688 | 18576688 | Missense_Mutation | C | T | p.R75Q |
| SNU1_STOMACH | 18576607 | 18576728 | 18576698 | 18576698 | Missense_Mutation | C | T | p.A72T |
| SIHA_CERVIX | 18576607 | 18576728 | 18576698 | 18576698 | Missense_Mutation | C | T | p.A72T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ELL |
| 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 ELL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELL |
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RelatedDrugs for ELL |
| 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 ELL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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