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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 UBE2E1 |
 Gene summary |
| Gene information | Gene symbol | UBE2E1 | Gene ID | 7324 |
| Gene name | ubiquitin conjugating enzyme E2 E1 | |
| Synonyms | UBCH6 | |
| Cytomap | 3p24.2 | |
| Type of gene | protein-coding | |
| Description | ubiquitin-conjugating enzyme E2 E1(E3-independent) E2 ubiquitin-conjugating enzyme E1E2 ubiquitin-conjugating enzyme E1ubiquitin carrier protein E1ubiquitin conjugating enzyme E2E 1ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)ubiquitin- | |
| Modification date | 20180523 | |
| UniProtAcc | P51965 | |
| Context | PubMed: UBE2E1 [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 |
| UBE2E1 | GO:0000209 | protein polyubiquitination | 15247280|16522193 |
| UBE2E1 | GO:0010390 | histone monoubiquitination | 16307923 |
| UBE2E1 | GO:0016567 | protein ubiquitination | 9990509 |
| UBE2E1 | GO:0032020 | ISG15-protein conjugation | 16428300 |
| UBE2E1 | GO:0033523 | histone H2B ubiquitination | 16307923 |
| UBE2E1 | GO:0070936 | protein K48-linked ubiquitination | 20061386 |
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Exon skipping events across known transcript of Ensembl for UBE2E1 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 UBE2E1 |
| 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 UBE2E1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372157 | 3 | 23848820:23848912:23852950:23853001:23929057:23929190 | 23852950:23853001 | ENSG00000170142.7 | ENST00000495141.1,ENST00000442670.1,ENST00000306627.3 |
| exon_skip_372161 | 3 | 23852950:23853001:23929057:23929190:23930602:23930707 | 23929057:23929190 | ENSG00000170142.7 | ENST00000424381.1,ENST00000475680.1,ENST00000467766.1,ENST00000442670.1,ENST00000306627.3 |
| exon_skip_372167 | 3 | 23929057:23929190:23929728:23929752:23930602:23930750 | 23929728:23929752 | ENSG00000170142.7 | ENST00000452012.1 |
| exon_skip_372168 | 3 | 23929057:23929190:23930602:23930750:23931999:23932363 | 23930602:23930750 | ENSG00000170142.7 | ENST00000424381.1,ENST00000475680.1,ENST00000306627.3,ENST00000346855.3,ENST00000493707.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UBE2E1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372157 | 3 | 23848820:23848912:23852950:23853001:23929057:23929190 | 23852950:23853001 | ENSG00000170142.7 | ENST00000306627.3,ENST00000495141.1,ENST00000442670.1 |
| exon_skip_372161 | 3 | 23852950:23853001:23929057:23929190:23930602:23930707 | 23929057:23929190 | ENSG00000170142.7 | ENST00000306627.3,ENST00000442670.1,ENST00000467766.1,ENST00000424381.1,ENST00000475680.1 |
| exon_skip_372167 | 3 | 23929057:23929190:23929728:23929752:23930602:23930750 | 23929728:23929752 | ENSG00000170142.7 | ENST00000452012.1 |
| exon_skip_372168 | 3 | 23929057:23929190:23930602:23930750:23931999:23932363 | 23930602:23930750 | ENSG00000170142.7 | ENST00000306627.3,ENST00000346855.3,ENST00000424381.1,ENST00000475680.1,ENST00000493707.1 |
| 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 UBE2E1 |
| 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 |
| ENST00000306627 | 23929057 | 23929190 | Frame-shift |
| ENST00000306627 | 23930602 | 23930750 | Frame-shift |
| ENST00000306627 | 23852950 | 23853001 | 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 |
| ENST00000306627 | 23929057 | 23929190 | Frame-shift |
| ENST00000306627 | 23930602 | 23930750 | Frame-shift |
| ENST00000306627 | 23852950 | 23853001 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBE2E1 |
| 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 |
| ENST00000306627 | 1528 | 193 | 23852950 | 23853001 | 372 | 422 | 51 | 67 |
| 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 |
| ENST00000306627 | 1528 | 193 | 23852950 | 23853001 | 372 | 422 | 51 | 67 |
| 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 |
| P51965 | 51 | 67 | 51 | 67 | Alternative sequence | ID=VSP_047200;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P51965 | 51 | 67 | 67 | 74 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LBN |
| P51965 | 51 | 67 | 2 | 193 | Chain | ID=PRO_0000082470;Note=Ubiquitin-conjugating enzyme E2 E1 |
| P51965 | 51 | 67 | 47 | 61 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LBN |
| 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 |
| P51965 | 51 | 67 | 51 | 67 | Alternative sequence | ID=VSP_047200;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P51965 | 51 | 67 | 67 | 74 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LBN |
| P51965 | 51 | 67 | 2 | 193 | Chain | ID=PRO_0000082470;Note=Ubiquitin-conjugating enzyme E2 E1 |
| P51965 | 51 | 67 | 47 | 61 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LBN |
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SNVs in the skipped exons for UBE2E1 |
| - 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. |
UBE2E1_CESC_exon_skip_372157_psi_boxplot.png |
| - 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-A1EG-01 | exon_skip_372161 | 23929058 | 23929190 | 23929187 | 23929187 | Frame_Shift_Del | A | - | p.P111fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_372168 | 23930603 | 23930750 | 23930710 | 23930710 | Frame_Shift_Del | C | - | p.V148fs |
| CESC | TCGA-EA-A3HT-01 | exon_skip_372157 | 23852951 | 23853001 | 23852950 | 23852950 | Splice_Site | G | A | e2-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EA-A3HT-01 |
| Cancer type: CESC | |
| ESID: exon_skip_372157 | |
| Skipped exon start: 23852951 | |
| Skipped exon end: 23853001 | |
| Mutation start: 23852950 | |
| Mutation end: 23852950 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: e2-1 | |
exon_skip_372157_CESC_TCGA-EA-A3HT-01.png | |
| - 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 |
| TE12_OESOPHAGUS | 23929058 | 23929190 | 23929146 | 23929146 | Missense_Mutation | C | T | p.L98F |
| STM9101_SOFT_TISSUE | 23929058 | 23929190 | 23929149 | 23929149 | Missense_Mutation | G | T | p.D99Y |
| KU1919_URINARY_TRACT | 23929058 | 23929190 | 23929152 | 23929152 | Missense_Mutation | A | G | p.I100V |
| JHUEM7_ENDOMETRIUM | 23930603 | 23930750 | 23930606 | 23930606 | Missense_Mutation | A | G | p.T114A |
| COLO792_SKIN | 23930603 | 23930750 | 23930657 | 23930657 | Missense_Mutation | T | C | p.C131R |
| SNU1040_LARGE_INTESTINE | 23930603 | 23930750 | 23930682 | 23930682 | Missense_Mutation | G | T | p.W139L |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 23930603 | 23930750 | 23930659 | 23930659 | Nonsense_Mutation | C | A | p.C131* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBE2E1 |
| 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 UBE2E1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBE2E1 |
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RelatedDrugs for UBE2E1 |
| 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 UBE2E1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| UBE2E1 | C0037274 | Dermatologic disorders | 1 | CTD_human |
| UBE2E1 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| UBE2E1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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