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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 EAPP |
 Gene summary |
| Gene information | Gene symbol | EAPP | Gene ID | 55837 |
| Gene name | E2F associated phosphoprotein | |
| Synonyms | BM036|C14orf11 | |
| Cytomap | 14q13.1 | |
| Type of gene | protein-coding | |
| Description | E2F-associated phosphoprotein | |
| Modification date | 20180523 | |
| UniProtAcc | Q56P03 | |
| Context | PubMed: EAPP [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 |
| EAPP | GO:0008284 | positive regulation of cell proliferation | 15716352 |
| EAPP | GO:0032968 | positive regulation of transcription elongation from RNA polymerase II promoter | 15716352 |
| EAPP | GO:0034244 | negative regulation of transcription elongation from RNA polymerase II promoter | 15716352 |
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Exon skipping events across known transcript of Ensembl for EAPP 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 EAPP |
| 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 EAPP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112532 | 14 | 34985695:34985792:34993902:34994013:34998563:34998681 | 34993902:34994013 | ENSG00000129518.4 | ENST00000250454.3,ENST00000554792.1 |
| exon_skip_112535 | 14 | 34993902:34994013:34998563:34998681:35002649:35002733 | 34998563:34998681 | ENSG00000129518.4 | ENST00000250454.3,ENST00000554792.1 |
| exon_skip_112541 | 14 | 34998563:34998681:35002649:35002745:35005299:35005481 | 35002649:35002745 | ENSG00000129518.4 | ENST00000250454.3,ENST00000555705.1,ENST00000554792.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EAPP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112532 | 14 | 34985695:34985792:34993902:34994013:34998563:34998681 | 34993902:34994013 | ENSG00000129518.4 | ENST00000250454.3,ENST00000554792.1 |
| exon_skip_112535 | 14 | 34993902:34994013:34998563:34998681:35002649:35002733 | 34998563:34998681 | ENSG00000129518.4 | ENST00000250454.3,ENST00000554792.1 |
| exon_skip_112541 | 14 | 34998563:34998681:35002649:35002745:35005299:35005481 | 35002649:35002745 | ENSG00000129518.4 | ENST00000250454.3,ENST00000554792.1,ENST00000555705.1 |
| 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 EAPP |
| 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 |
| ENST00000250454 | 34998563 | 34998681 | Frame-shift |
| ENST00000250454 | 34993902 | 34994013 | In-frame |
| ENST00000250454 | 35002649 | 35002745 | 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 |
| ENST00000250454 | 34998563 | 34998681 | Frame-shift |
| ENST00000250454 | 34993902 | 34994013 | In-frame |
| ENST00000250454 | 35002649 | 35002745 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EAPP |
| 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 |
| ENST00000250454 | 1338 | 285 | 35002649 | 35002745 | 339 | 434 | 85 | 117 |
| ENST00000250454 | 1338 | 285 | 34993902 | 34994013 | 553 | 663 | 157 | 193 |
| 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 |
| ENST00000250454 | 1338 | 285 | 35002649 | 35002745 | 339 | 434 | 85 | 117 |
| ENST00000250454 | 1338 | 285 | 34993902 | 34994013 | 553 | 663 | 157 | 193 |
| 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 |
| Q56P03 | 85 | 117 | 1 | 285 | Chain | ID=PRO_0000086904;Note=E2F-associated phosphoprotein |
| Q56P03 | 85 | 117 | 109 | 109 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:1 |
| Q56P03 | 85 | 117 | 111 | 111 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:1 |
| Q56P03 | 157 | 193 | 1 | 285 | Chain | ID=PRO_0000086904;Note=E2F-associated phosphoprotein |
| Q56P03 | 157 | 193 | 168 | 168 | Natural variant | ID=VAR_031915;Note=Q->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:15716352;Dbxref=dbSNP:rs17352411,PMID:15489334,PMID:15716352 |
| 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 |
| Q56P03 | 85 | 117 | 1 | 285 | Chain | ID=PRO_0000086904;Note=E2F-associated phosphoprotein |
| Q56P03 | 85 | 117 | 109 | 109 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:1 |
| Q56P03 | 85 | 117 | 111 | 111 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:1 |
| Q56P03 | 157 | 193 | 1 | 285 | Chain | ID=PRO_0000086904;Note=E2F-associated phosphoprotein |
| Q56P03 | 157 | 193 | 168 | 168 | Natural variant | ID=VAR_031915;Note=Q->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:15716352;Dbxref=dbSNP:rs17352411,PMID:15489334,PMID:15716352 |
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SNVs in the skipped exons for EAPP |
| - 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 |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_112535 | 34998564 | 34998681 | 34998660 | 34998660 | Frame_Shift_Del | T | - | p.K125fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_112541 | 35002650 | 35002745 | 35002681 | 35002681 | Frame_Shift_Del | A | - | p.F107fs |
| STAD | TCGA-CG-5728-01 | exon_skip_112535 | 34998564 | 34998681 | 34998660 | 34998661 | Frame_Shift_Ins | - | T | p.K125fs |
| LUSC | TCGA-18-3421-01 | exon_skip_112541 | 35002650 | 35002745 | 35002668 | 35002668 | Nonsense_Mutation | C | A | p.E112* |
| - 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 |
| LOVO_LARGE_INTESTINE | 34998564 | 34998681 | 34998660 | 34998660 | Frame_Shift_Del | T | - | p.K127fs |
| SNU407_LARGE_INTESTINE | 34998564 | 34998681 | 34998660 | 34998660 | Frame_Shift_Del | T | - | p.K127fs |
| MFE319_ENDOMETRIUM | 34998564 | 34998681 | 34998659 | 34998660 | Frame_Shift_Ins | - | T | p.K125fs |
| DU145_PROSTATE | 34993903 | 34994013 | 34993921 | 34993921 | Missense_Mutation | A | C | p.L188R |
| HCT15_LARGE_INTESTINE | 34998564 | 34998681 | 34998624 | 34998624 | Missense_Mutation | A | G | p.L137S |
| IGR39_SKIN | 34998564 | 34998681 | 34998639 | 34998639 | Missense_Mutation | G | A | p.P132L |
| IGR37_SKIN | 34998564 | 34998681 | 34998639 | 34998639 | Missense_Mutation | G | A | p.P132L |
| HEC251_ENDOMETRIUM | 35002650 | 35002745 | 35002680 | 35002680 | Missense_Mutation | C | A | p.D108Y |
| KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35002650 | 35002745 | 35002698 | 35002698 | Missense_Mutation | A | G | p.Y102H |
| NCIH23_LUNG | 35002650 | 35002745 | 35002713 | 35002713 | Missense_Mutation | C | A | p.A97S |
| MM370_SKIN | 35002650 | 35002745 | 35002739 | 35002739 | Missense_Mutation | G | A | p.S88F |
| RERFGC1B_STOMACH | 35002650 | 35002745 | 35002742 | 35002742 | Missense_Mutation | G | A | p.S87F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EAPP |
| 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 EAPP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EAPP |
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RelatedDrugs for EAPP |
| 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 EAPP |
| 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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