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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 E2F8 |
 Gene summary |
| Gene information | Gene symbol | E2F8 | Gene ID | 79733 |
| Gene name | E2F transcription factor 8 | |
| Synonyms | E2F-8 | |
| Cytomap | 11p15.1 | |
| Type of gene | protein-coding | |
| Description | transcription factor E2F8E2F family member 8 | |
| Modification date | 20180519 | |
| UniProtAcc | A0AVK6 | |
| Context | PubMed: E2F8 [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 |
| E2F8 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16179649 |
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Exon skipping events across known transcript of Ensembl for E2F8 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 E2F8 |
| 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 E2F8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69928 | 11 | 19253780:19253918:19255906:19256068:19256290:19256605 | 19255906:19256068 | ENSG00000129173.8 | ENST00000527884.1,ENST00000250024.4 |
| exon_skip_69931 | 11 | 19255906:19256068:19256290:19256605:19258860:19259017 | 19256290:19256605 | ENSG00000129173.8 | ENST00000527884.1,ENST00000250024.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for E2F8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_69931 | 11 | 19255906:19256068:19256290:19256605:19258860:19259017 | 19256290:19256605 | ENSG00000129173.8 | ENST00000527884.1,ENST00000250024.4 |
| 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 E2F8 |
| 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 |
| ENST00000250024 | 19255906 | 19256068 | In-frame |
| ENST00000527884 | 19255906 | 19256068 | In-frame |
| ENST00000250024 | 19256290 | 19256605 | In-frame |
| ENST00000527884 | 19256290 | 19256605 | 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 |
| ENST00000250024 | 19256290 | 19256605 | In-frame |
| ENST00000527884 | 19256290 | 19256605 | In-frame |
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Infer the effects of exon skipping event on protein functional features for E2F8 |
| 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 |
| ENST00000250024 | 3257 | 867 | 19256290 | 19256605 | 965 | 1279 | 150 | 255 |
| ENST00000527884 | 3449 | 867 | 19256290 | 19256605 | 685 | 999 | 150 | 255 |
| ENST00000250024 | 3257 | 867 | 19255906 | 19256068 | 1280 | 1441 | 255 | 309 |
| ENST00000527884 | 3449 | 867 | 19255906 | 19256068 | 1000 | 1161 | 255 | 309 |
| 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 |
| ENST00000250024 | 3257 | 867 | 19256290 | 19256605 | 965 | 1279 | 150 | 255 |
| ENST00000527884 | 3449 | 867 | 19256290 | 19256605 | 685 | 999 | 150 | 255 |
| 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 |
| A0AVK6 | 150 | 255 | 169 | 174 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 169 | 174 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 177 | 179 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 177 | 179 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 1 | 867 | Chain | ID=PRO_0000298909;Note=Transcription factor E2F8 |
| A0AVK6 | 150 | 255 | 1 | 867 | Chain | ID=PRO_0000298909;Note=Transcription factor E2F8 |
| A0AVK6 | 150 | 255 | 113 | 182 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| A0AVK6 | 150 | 255 | 113 | 182 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| A0AVK6 | 150 | 255 | 154 | 166 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 154 | 166 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 186 | 196 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 186 | 196 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 199 | 209 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 199 | 209 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 156 | 156 | Mutagenesis | Note=Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization%3B when associated with A-314. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15897886,ECO:0000269|PubMed:18202719;Dbxref=PM |
| A0AVK6 | 150 | 255 | 156 | 156 | Mutagenesis | Note=Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization%3B when associated with A-314. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15897886,ECO:0000269|PubMed:18202719;Dbxref=PM |
| A0AVK6 | 255 | 309 | 305 | 307 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 255 | 309 | 305 | 307 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 255 | 309 | 1 | 867 | Chain | ID=PRO_0000298909;Note=Transcription factor E2F8 |
| A0AVK6 | 255 | 309 | 1 | 867 | Chain | ID=PRO_0000298909;Note=Transcription factor E2F8 |
| A0AVK6 | 255 | 309 | 261 | 347 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| A0AVK6 | 255 | 309 | 261 | 347 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| A0AVK6 | 255 | 309 | 266 | 276 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 255 | 309 | 266 | 276 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 255 | 309 | 286 | 296 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 255 | 309 | 286 | 296 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 255 | 309 | 308 | 321 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 255 | 309 | 308 | 321 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| 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 |
| A0AVK6 | 150 | 255 | 169 | 174 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 169 | 174 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 177 | 179 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 177 | 179 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 1 | 867 | Chain | ID=PRO_0000298909;Note=Transcription factor E2F8 |
| A0AVK6 | 150 | 255 | 1 | 867 | Chain | ID=PRO_0000298909;Note=Transcription factor E2F8 |
| A0AVK6 | 150 | 255 | 113 | 182 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| A0AVK6 | 150 | 255 | 113 | 182 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| A0AVK6 | 150 | 255 | 154 | 166 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 154 | 166 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 186 | 196 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 186 | 196 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 199 | 209 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 199 | 209 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YO2 |
| A0AVK6 | 150 | 255 | 156 | 156 | Mutagenesis | Note=Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization%3B when associated with A-314. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15897886,ECO:0000269|PubMed:18202719;Dbxref=PM |
| A0AVK6 | 150 | 255 | 156 | 156 | Mutagenesis | Note=Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization%3B when associated with A-314. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15897886,ECO:0000269|PubMed:18202719;Dbxref=PM |
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SNVs in the skipped exons for E2F8 |
| - 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-G2-AA3D-01 | exon_skip_69928 | 19255907 | 19256068 | 19256036 | 19256036 | Frame_Shift_Del | T | - | p.R267fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_69931 | 19256291 | 19256605 | 19256425 | 19256425 | Frame_Shift_Del | T | - | p.K212fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_69931 | 19256291 | 19256605 | 19256530 | 19256530 | Frame_Shift_Del | T | - | p.N176fs |
| HNSC | TCGA-CN-6992-01 | exon_skip_69931 | 19256291 | 19256605 | 19256552 | 19256556 | Frame_Shift_Del | TATGT | - | p.L167fs |
| HNSC | TCGA-CN-6992-01 | exon_skip_69931 | 19256291 | 19256605 | 19256552 | 19256556 | Frame_Shift_Del | TATGT | - | p.LHM167fs |
| STAD | TCGA-HU-8608-01 | exon_skip_69931 | 19256291 | 19256605 | 19256429 | 19256429 | Nonsense_Mutation | T | A | p.K210* |
| STAD | TCGA-HU-8608-01 | exon_skip_69931 | 19256291 | 19256605 | 19256429 | 19256429 | Nonsense_Mutation | T | A | p.K210X |
| COAD | TCGA-AA-A00J-01 | exon_skip_69931 | 19256291 | 19256605 | 19256510 | 19256510 | Nonsense_Mutation | G | A | p.R183X |
| PAAD | TCGA-2J-AABF-01 | exon_skip_69931 | 19256291 | 19256605 | 19256510 | 19256510 | Nonsense_Mutation | G | A | p.R183* |
| PAAD | TCGA-2J-AABF-01 | exon_skip_69931 | 19256291 | 19256605 | 19256510 | 19256510 | Nonsense_Mutation | G | A | p.R183X |
| STAD | TCGA-CG-5726-01 | exon_skip_69931 | 19256291 | 19256605 | 19256510 | 19256510 | Nonsense_Mutation | G | A | p.R183* |
| - 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 |
| HCC2998_LARGE_INTESTINE | 19255907 | 19256068 | 19255912 | 19255912 | Missense_Mutation | A | C | p.F308C |
| KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19255907 | 19256068 | 19255971 | 19255971 | Missense_Mutation | T | A | p.E288D |
| C3A_LIVER | 19255907 | 19256068 | 19255982 | 19255982 | Missense_Mutation | C | G | p.V285L |
| JHUEM7_ENDOMETRIUM | 19255907 | 19256068 | 19256004 | 19256004 | Missense_Mutation | A | C | p.F277L |
| SW684_SOFT_TISSUE | 19256291 | 19256605 | 19256347 | 19256347 | Missense_Mutation | G | A | p.P237L |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19256291 | 19256605 | 19256356 | 19256356 | Missense_Mutation | T | C | p.N234S |
| SH10TC_STOMACH | 19256291 | 19256605 | 19256412 | 19256412 | Missense_Mutation | C | G | p.E215D |
| DV90_LUNG | 19256291 | 19256605 | 19256468 | 19256468 | Missense_Mutation | C | T | p.G197R |
| HEC1A_ENDOMETRIUM | 19256291 | 19256605 | 19256513 | 19256513 | Missense_Mutation | C | T | p.G182R |
| HEC1_ENDOMETRIUM | 19256291 | 19256605 | 19256513 | 19256513 | Missense_Mutation | C | T | p.G182R |
| HEC1B_ENDOMETRIUM | 19256291 | 19256605 | 19256513 | 19256513 | Missense_Mutation | C | T | p.G182R |
| HCC202_BREAST | 19256291 | 19256605 | 19256519 | 19256519 | Missense_Mutation | A | G | p.W180R |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19256291 | 19256605 | 19256579 | 19256579 | Missense_Mutation | T | C | p.I160V |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 19256291 | 19256605 | 19256596 | 19256596 | Missense_Mutation | C | T | p.R154H |
| COLO792_SKIN | 19256291 | 19256605 | 19256408 | 19256408 | Nonsense_Mutation | C | A | p.E217* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for E2F8 |
| 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 E2F8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for E2F8 |
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RelatedDrugs for E2F8 |
| 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 E2F8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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