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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 E2F7 |
 Gene summary |
| Gene information | Gene symbol | E2F7 | Gene ID | 144455 |
| Gene name | E2F transcription factor 7 | |
| Synonyms | - | |
| Cytomap | 12q21.2 | |
| Type of gene | protein-coding | |
| Description | transcription factor E2F7E2F-7 | |
| Modification date | 20180522 | |
| UniProtAcc | Q96AV8 | |
| Context | PubMed: E2F7 [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 |
| E2F7 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 22802528 |
| E2F7 | GO:0030330 | DNA damage response, signal transduction by p53 class mediator | 22802528 |
| E2F7 | GO:0071930 | negative regulation of transcription involved in G1/S transition of mitotic cell cycle | 22802528 |
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Exon skipping events across known transcript of Ensembl for E2F7 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 E2F7 |
| 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 E2F7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_94985 | 12 | 77415027:77417965:77419337:77419762:77421662:77421918 | 77419337:77419762 | ENSG00000165891.11 | ENST00000322886.7 |
| exon_skip_94989 | 12 | 77427785:77427822:77436844:77436979:77438416:77438575 | 77436844:77436979 | ENSG00000165891.11 | ENST00000322886.7,ENST00000416496.2,ENST00000550669.1 |
| exon_skip_94991 | 12 | 77436844:77436979:77438025:77438049:77438416:77438575 | 77438025:77438049 | ENSG00000165891.11 | ENST00000552907.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for E2F7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_94985 | 12 | 77415027:77417965:77419337:77419762:77421662:77421918 | 77419337:77419762 | ENSG00000165891.11 | ENST00000322886.7 |
| exon_skip_94989 | 12 | 77427785:77427822:77436844:77436979:77438416:77438575 | 77436844:77436979 | ENSG00000165891.11 | ENST00000322886.7,ENST00000416496.2,ENST00000550669.1 |
| exon_skip_94991 | 12 | 77436844:77436979:77438025:77438049:77438416:77438575 | 77438025:77438049 | ENSG00000165891.11 | ENST00000552907.1 |
| 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 E2F7 |
| 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 |
| ENST00000322886 | 77419337 | 77419762 | Frame-shift |
| ENST00000322886 | 77436844 | 77436979 | 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 |
| ENST00000322886 | 77419337 | 77419762 | Frame-shift |
| ENST00000322886 | 77436844 | 77436979 | In-frame |
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Infer the effects of exon skipping event on protein functional features for E2F7 |
| 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 |
| ENST00000322886 | 5757 | 911 | 77436844 | 77436979 | 1225 | 1359 | 329 | 374 |
| 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 |
| ENST00000322886 | 5757 | 911 | 77436844 | 77436979 | 1225 | 1359 | 329 | 374 |
| 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 |
| Q96AV8 | 329 | 374 | 1 | 911 | Chain | ID=PRO_0000298907;Note=Transcription factor E2F7 |
| Q96AV8 | 329 | 374 | 282 | 367 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96AV8 | 329 | 374 | 334 | 334 | Mutagenesis | Note=Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization%3B when associated with A-185. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15133492,ECO:0000269|PubMed:18202719;Dbxref=PM |
| 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 |
| Q96AV8 | 329 | 374 | 1 | 911 | Chain | ID=PRO_0000298907;Note=Transcription factor E2F7 |
| Q96AV8 | 329 | 374 | 282 | 367 | DNA binding | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96AV8 | 329 | 374 | 334 | 334 | Mutagenesis | Note=Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization%3B when associated with A-185. R->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15133492,ECO:0000269|PubMed:18202719;Dbxref=PM |
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SNVs in the skipped exons for E2F7 |
| - 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-G3-A3CJ-01 | exon_skip_94985 | 77419338 | 77419762 | 77419380 | 77419380 | Frame_Shift_Del | G | - | p.P841fs |
| KICH | TCGA-KL-8328-01 | exon_skip_94985 | 77419338 | 77419762 | 77419489 | 77419490 | Frame_Shift_Del | TT | - | p.K805fs |
| COAD | TCGA-CK-5916-01 | exon_skip_94985 | 77419338 | 77419762 | 77419717 | 77419717 | Frame_Shift_Del | G | - | p.P729fs |
| STAD | TCGA-BR-8363-01 | exon_skip_94985 | 77419338 | 77419762 | 77419717 | 77419717 | Frame_Shift_Del | G | - | p.P729fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_94989 | 77436845 | 77436979 | 77436888 | 77436888 | Frame_Shift_Del | T | - | p.K360fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_94989 | 77436845 | 77436979 | 77436976 | 77436976 | Frame_Shift_Del | T | - | p.K331fs |
| KIRC | TCGA-A3-3320-01 | exon_skip_94985 | 77419338 | 77419762 | 77419716 | 77419717 | Frame_Shift_Ins | - | G | p.H729fs |
| KIRC | TCGA-AK-3447-01 | exon_skip_94985 | 77419338 | 77419762 | 77419716 | 77419717 | Frame_Shift_Ins | - | G | p.H729fs |
| UCEC | TCGA-B5-A0K7-01 | exon_skip_94985 | 77419338 | 77419762 | 77419716 | 77419717 | Frame_Shift_Ins | - | G | p.P729fs |
| CESC | TCGA-FU-A5XV-01 | exon_skip_94989 | 77436845 | 77436979 | 77436899 | 77436899 | Nonsense_Mutation | G | A | p.R357* |
| COAD | TCGA-AA-3518-01 | exon_skip_94989 | 77436845 | 77436979 | 77436971 | 77436971 | Nonsense_Mutation | G | A | p.R333X |
| STAD | TCGA-HU-A4GU-01 | exon_skip_94989 | 77436845 | 77436979 | 77436971 | 77436971 | Nonsense_Mutation | G | A | p.R333* |
| STAD | TCGA-HU-A4GU-01 | exon_skip_94989 | 77436845 | 77436979 | 77436971 | 77436971 | Nonsense_Mutation | G | A | p.R333X |
| - 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 |
| HEC151_ENDOMETRIUM | 77419338 | 77419762 | 77419717 | 77419717 | Frame_Shift_Del | G | - | p.P729fs |
| TOV21G_OVARY | 77419338 | 77419762 | 77419529 | 77419529 | Missense_Mutation | C | A | p.A792S |
| SNU1040_LARGE_INTESTINE | 77419338 | 77419762 | 77419552 | 77419552 | Missense_Mutation | C | T | p.S784N |
| NCIH322_LUNG | 77419338 | 77419762 | 77419567 | 77419567 | Missense_Mutation | C | T | p.G779E |
| MHHES1_BONE | 77419338 | 77419762 | 77419570 | 77419570 | Missense_Mutation | G | A | p.T778I |
| HCC1954_BREAST | 77419338 | 77419762 | 77419687 | 77419687 | Missense_Mutation | G | A | p.P739L |
| NCIH596_LUNG | 77419338 | 77419762 | 77419687 | 77419687 | Missense_Mutation | G | A | p.P739L |
| HCC1954_MATCHED_NORMAL_TISSUE | 77419338 | 77419762 | 77419687 | 77419687 | Missense_Mutation | G | A | p.P739L |
| SW1573_LUNG | 77436845 | 77436979 | 77436959 | 77436959 | Missense_Mutation | C | T | p.D337N |
| SKUT1_SOFT_TISSUE | 77436845 | 77436979 | 77436968 | 77436968 | Missense_Mutation | G | A | p.R334C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for E2F7 |
| 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 E2F7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for E2F7 |
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RelatedDrugs for E2F7 |
| 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 E2F7 |
| 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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