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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 CPEB1 |
 Gene summary |
| Gene information | Gene symbol | CPEB1 | Gene ID | 64506 |
| Gene name | cytoplasmic polyadenylation element binding protein 1 | |
| Synonyms | CPE-BP1|CPEB|CPEB-1|h-CPEB|hCPEB-1 | |
| Cytomap | 15q25.2 | |
| Type of gene | protein-coding | |
| Description | cytoplasmic polyadenylation element-binding protein 1CPE-binding protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BZB8 | |
| Context | PubMed: CPEB1 [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 |
| CPEB1 | GO:0032869 | cellular response to insulin stimulus | 18752464 |
| CPEB1 | GO:0071456 | cellular response to hypoxia | 18752464 |
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Exon skipping events across known transcript of Ensembl for CPEB1 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 CPEB1 |
| 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 CPEB1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130216 | 15 | 83224619:83224872:83226509:83226736:83240093:83240282 | 83226509:83226736 | ENSG00000214575.5 | ENST00000423133.2,ENST00000562019.1,ENST00000261723.6,ENST00000450751.2,ENST00000568757.1,ENST00000563800.1,ENST00000564522.1,ENST00000568128.1,ENST00000398591.2 |
| exon_skip_130218 | 15 | 83240195:83240282:83252119:83252211:83295943:83296118 | 83252119:83252211 | ENSG00000214575.5 | ENST00000568757.1 |
| exon_skip_130224 | 15 | 83240195:83240282:83295943:83296118:83315887:83316110 | 83295943:83296118 | ENSG00000214575.5 | ENST00000450751.2 |
| exon_skip_130225 | 15 | 83240195:83240282:83295943:83296118:83315959:83316254 | 83295943:83296118 | ENSG00000214575.5 | ENST00000567678.1 |
| exon_skip_130226 | 15 | 83240195:83240282:83295943:83296118:83316606:83316728 | 83295943:83296118 | ENSG00000214575.5 | ENST00000568128.1 |
| exon_skip_130234 | 15 | 83296039:83296118:83301922:83301972:83310375:83310433 | 83301922:83301972 | ENSG00000214575.5 | ENST00000569257.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CPEB1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_130216 | 15 | 83224619:83224872:83226509:83226736:83240093:83240282 | 83226509:83226736 | ENSG00000214575.5 | ENST00000450751.2,ENST00000563800.1,ENST00000398591.2,ENST00000562019.1,ENST00000423133.2,ENST00000568128.1,ENST00000564522.1,ENST00000261723.6,ENST00000568757.1 |
| exon_skip_130218 | 15 | 83240195:83240282:83252119:83252211:83295943:83296118 | 83252119:83252211 | ENSG00000214575.5 | ENST00000568757.1 |
| exon_skip_130224 | 15 | 83240195:83240282:83295943:83296118:83315887:83316110 | 83295943:83296118 | ENSG00000214575.5 | ENST00000450751.2 |
| exon_skip_130225 | 15 | 83240195:83240282:83295943:83296118:83315959:83316254 | 83295943:83296118 | ENSG00000214575.5 | ENST00000567678.1 |
| exon_skip_130226 | 15 | 83240195:83240282:83295943:83296118:83316606:83316728 | 83295943:83296118 | ENSG00000214575.5 | ENST00000568128.1 |
| exon_skip_130234 | 15 | 83296039:83296118:83301922:83301972:83310375:83310433 | 83301922:83301972 | ENSG00000214575.5 | ENST00000569257.1 |
| exon_skip_130241 | 15 | 83301932:83301972:83307315:83307385:83309407:83309616 | 83307315:83307385 | ENSG00000214575.5 | ENST00000563519.1 |
| 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 CPEB1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CPEB1 |
| 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 CPEB1 |
| - 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 |
| SKCM | TCGA-OD-A75X-06 | exon_skip_130216 | 83226510 | 83226736 | 83226581 | 83226581 | Nonsense_Mutation | G | A | p.R206* |
| COAD | TCGA-AA-3510-01 | exon_skip_130225 exon_skip_130224 exon_skip_130226 | 83295944 | 83296118 | 83296034 | 83296034 | Nonsense_Mutation | G | A | p.R34X |
| HNSC | TCGA-KU-A66S-01 | exon_skip_130225 exon_skip_130224 exon_skip_130226 | 83295944 | 83296118 | 83296034 | 83296034 | Nonsense_Mutation | G | A | p.R61* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_130216 | 83226510 | 83226736 | 83226509 | 83226509 | Splice_Site | C | T | e4+1 |
| - 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 |
| HCC2108_LUNG | 83295944 | 83296118 | 83296080 | 83296081 | Frame_Shift_Ins | - | T | p.N18fs |
| MORCPR_LUNG | 83295944 | 83296118 | 83296080 | 83296081 | Frame_Shift_Ins | - | T | p.N18fs |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 83226510 | 83226736 | 83226644 | 83226646 | In_Frame_Del | CCA | - | p.V157del |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 83226510 | 83226736 | 83226644 | 83226646 | In_Frame_Del | CCA | - | p.V157del |
| CORL95_LUNG | 83226510 | 83226736 | 83226562 | 83226562 | Missense_Mutation | T | C | p.D185G |
| LN18_CENTRAL_NERVOUS_SYSTEM | 83226510 | 83226736 | 83226595 | 83226595 | Missense_Mutation | G | T | p.P174H |
| SW684_SOFT_TISSUE | 83226510 | 83226736 | 83226662 | 83226662 | Missense_Mutation | G | A | p.L152F |
| WM88_SKIN | 83226510 | 83226736 | 83226668 | 83226668 | Missense_Mutation | C | T | p.D150N |
| HCC2998_LARGE_INTESTINE | 83226510 | 83226736 | 83226679 | 83226679 | Missense_Mutation | A | G | p.F146S |
| HT115_LARGE_INTESTINE | 83295944 | 83296118 | 83295959 | 83295959 | Missense_Mutation | G | T | p.H59N |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 83295944 | 83296118 | 83295973 | 83295973 | Missense_Mutation | A | G | p.I54T |
| SNUC2A_LARGE_INTESTINE | 83295944 | 83296118 | 83296021 | 83296021 | Missense_Mutation | G | A | p.A38V |
| SNUC2B_LARGE_INTESTINE | 83295944 | 83296118 | 83296021 | 83296021 | Missense_Mutation | G | A | p.A38V |
| NCIH1339_LUNG | 83295944 | 83296118 | 83296069 | 83296069 | Missense_Mutation | G | T | p.P22H |
| ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 83295944 | 83296118 | 83296085 | 83296085 | Missense_Mutation | C | T | p.D17N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CPEB1 |
| 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 CPEB1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CPEB1 |
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RelatedDrugs for CPEB1 |
| 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 CPEB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CPEB1 | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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