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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 CCNE1 |
 Gene summary |
| Gene information | Gene symbol | CCNE1 | Gene ID | 898 |
| Gene name | cyclin E1 | |
| Synonyms | CCNE|pCCNE1 | |
| Cytomap | 19q12 | |
| Type of gene | protein-coding | |
| Description | G1/S-specific cyclin-E1 | |
| Modification date | 20180523 | |
| UniProtAcc | P24864 | |
| Context | PubMed: CCNE1 [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 |
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Exon skipping events across known transcript of Ensembl for CCNE1 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 CCNE1 |
| 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 CCNE1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_304702 | 19 | 30302910:30303059:30303438:30303485:30303595:30303683 | 30303438:30303485 | ENSG00000105173.9 | ENST00000357943.5,ENST00000575243.1 |
| exon_skip_304704 | 19 | 30303631:30303683:30303875:30303944:30308043:30308189 | 30303875:30303944 | ENSG00000105173.9 | ENST00000357943.5,ENST00000444983.2,ENST00000262643.3 |
| exon_skip_304706 | 19 | 30303631:30303683:30303884:30303944:30308043:30308189 | 30303884:30303944 | ENSG00000105173.9 | ENST00000575243.1 |
| exon_skip_304708 | 19 | 30308312:30308448:30311608:30311755:30312628:30312675 | 30311608:30311755 | ENSG00000105173.9 | ENST00000444983.2,ENST00000576532.1,ENST00000262643.3,ENST00000575243.1 |
| exon_skip_304710 | 19 | 30312628:30312724:30312902:30313037:30313146:30313258 | 30312902:30313037 | ENSG00000105173.9 | ENST00000357943.5,ENST00000444983.2,ENST00000262643.3 |
| exon_skip_304712 | 19 | 30313146:30313258:30313352:30313510:30314561:30314917 | 30313352:30313510 | ENSG00000105173.9 | ENST00000357943.5,ENST00000444983.2,ENST00000576532.1,ENST00000574121.1,ENST00000262643.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCNE1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_304702 | 19 | 30302910:30303059:30303438:30303485:30303595:30303683 | 30303438:30303485 | ENSG00000105173.9 | ENST00000575243.1,ENST00000357943.5 |
| exon_skip_304704 | 19 | 30303631:30303683:30303875:30303944:30308043:30308189 | 30303875:30303944 | ENSG00000105173.9 | ENST00000262643.3,ENST00000357943.5,ENST00000444983.2 |
| exon_skip_304706 | 19 | 30303631:30303683:30303884:30303944:30308043:30308189 | 30303884:30303944 | ENSG00000105173.9 | ENST00000575243.1 |
| exon_skip_304708 | 19 | 30308312:30308448:30311608:30311755:30312628:30312675 | 30311608:30311755 | ENSG00000105173.9 | ENST00000262643.3,ENST00000575243.1,ENST00000444983.2,ENST00000576532.1 |
| exon_skip_304710 | 19 | 30312628:30312724:30312902:30313037:30313146:30313258 | 30312902:30313037 | ENSG00000105173.9 | ENST00000262643.3,ENST00000357943.5,ENST00000444983.2 |
| exon_skip_304712 | 19 | 30313146:30313258:30313352:30313510:30314561:30314917 | 30313352:30313510 | ENSG00000105173.9 | ENST00000262643.3,ENST00000357943.5,ENST00000444983.2,ENST00000576532.1,ENST00000574121.1 |
| 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 CCNE1 |
| 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 |
| ENST00000262643 | 30313352 | 30313510 | Frame-shift |
| ENST00000262643 | 30303875 | 30303944 | In-frame |
| ENST00000262643 | 30311608 | 30311755 | In-frame |
| ENST00000262643 | 30312902 | 30313037 | 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 |
| ENST00000262643 | 30313352 | 30313510 | Frame-shift |
| ENST00000262643 | 30303875 | 30303944 | In-frame |
| ENST00000262643 | 30311608 | 30311755 | In-frame |
| ENST00000262643 | 30312902 | 30313037 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCNE1 |
| 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 |
| ENST00000262643 | 2060 | 410 | 30303875 | 30303944 | 391 | 459 | 37 | 60 |
| ENST00000262643 | 2060 | 410 | 30311608 | 30311755 | 742 | 888 | 154 | 203 |
| ENST00000262643 | 2060 | 410 | 30312902 | 30313037 | 985 | 1119 | 235 | 280 |
| 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 |
| ENST00000262643 | 2060 | 410 | 30303875 | 30303944 | 391 | 459 | 37 | 60 |
| ENST00000262643 | 2060 | 410 | 30311608 | 30311755 | 742 | 888 | 154 | 203 |
| ENST00000262643 | 2060 | 410 | 30312902 | 30313037 | 985 | 1119 | 235 | 280 |
| 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 |
| P24864 | 37 | 60 | 1 | 410 | Chain | ID=PRO_0000080449;Note=G1/S-specific cyclin-E1 |
| P24864 | 154 | 203 | 154 | 196 | Alternative sequence | ID=VSP_001253;Note=In isoform E1S. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P24864 | 154 | 203 | 1 | 410 | Chain | ID=PRO_0000080449;Note=G1/S-specific cyclin-E1 |
| P24864 | 154 | 203 | 142 | 158 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 154 | 203 | 163 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 154 | 203 | 185 | 187 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 154 | 203 | 188 | 203 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 265 | 267 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 1 | 410 | Chain | ID=PRO_0000080449;Note=G1/S-specific cyclin-E1 |
| P24864 | 235 | 280 | 223 | 236 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 246 | 257 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 272 | 287 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 237 | 239 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| 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 |
| P24864 | 37 | 60 | 1 | 410 | Chain | ID=PRO_0000080449;Note=G1/S-specific cyclin-E1 |
| P24864 | 154 | 203 | 154 | 196 | Alternative sequence | ID=VSP_001253;Note=In isoform E1S. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P24864 | 154 | 203 | 1 | 410 | Chain | ID=PRO_0000080449;Note=G1/S-specific cyclin-E1 |
| P24864 | 154 | 203 | 142 | 158 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 154 | 203 | 163 | 179 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 154 | 203 | 185 | 187 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 154 | 203 | 188 | 203 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 265 | 267 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 1 | 410 | Chain | ID=PRO_0000080449;Note=G1/S-specific cyclin-E1 |
| P24864 | 235 | 280 | 223 | 236 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 246 | 257 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 272 | 287 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
| P24864 | 235 | 280 | 237 | 239 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1W98 |
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SNVs in the skipped exons for CCNE1 |
| - 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_304708 | 30311609 | 30311755 | 30311688 | 30311688 | Frame_Shift_Del | A | - | p.E181fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_304708 | 30311609 | 30311755 | 30311706 | 30311706 | Frame_Shift_Del | T | - | p.L188fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_304708 | 30311609 | 30311755 | 30311706 | 30311706 | Frame_Shift_Del | T | - | p.L188fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_304706 exon_skip_304704 | 30303876 | 30303944 | 30303939 | 30303940 | Frame_Shift_Ins | - | G | p.S59fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_304706 exon_skip_304704 | 30303885 | 30303944 | 30303939 | 30303940 | Frame_Shift_Ins | - | G | p.S59fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_304712 | 30313353 | 30313510 | 30313463 | 30313464 | Frame_Shift_Ins | - | A | p.E355fs |
| ESCA | TCGA-2H-A9GM-01 | exon_skip_304706 exon_skip_304704 | 30303876 | 30303944 | 30303882 | 30303882 | Nonsense_Mutation | C | T | p.Q40* |
| ESCA | TCGA-2H-A9GM-01 | exon_skip_304706 exon_skip_304704 | 30303876 | 30303944 | 30303882 | 30303882 | Nonsense_Mutation | C | T | p.Q40X |
| HNSC | TCGA-CV-7433-01 | exon_skip_304710 | 30312903 | 30313037 | 30312987 | 30312987 | Nonsense_Mutation | G | T | p.E264* |
| - 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 |
| FTC133_THYROID | 30311609 | 30311755 | 30311669 | 30311669 | Missense_Mutation | C | T | p.R175W |
| MDAPCA2B_PROSTATE | 30311609 | 30311755 | 30311679 | 30311679 | Missense_Mutation | C | T | p.A178V |
| SNU1040_LARGE_INTESTINE | 30312903 | 30313037 | 30312915 | 30312915 | Missense_Mutation | C | T | p.R240C |
| NCIH513_PLEURA | 30312903 | 30313037 | 30312933 | 30312933 | Missense_Mutation | A | G | p.I246V |
| NCIH524_LUNG | 30313353 | 30313510 | 30313417 | 30313417 | Missense_Mutation | G | T | p.R339S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCNE1 |
| 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 CCNE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCNE1 |
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RelatedDrugs for CCNE1 |
| 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 CCNE1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CCNE1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| CCNE1 | C2239176 | Liver carcinoma | 2 | CTD_human |
| CCNE1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| CCNE1 | C0025149 | Medulloblastoma | 1 | CTD_human |
| CCNE1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
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