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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 UBE2V1 |
 Gene summary |
| Gene information | Gene symbol | UBE2V1 | Gene ID | 7335 |
| Gene name | ubiquitin conjugating enzyme E2 V1 | |
| Synonyms | CIR1|CROC-1|CROC1|UBE2V|UEV-1|UEV1|UEV1A | |
| Cytomap | 20q13.13 | |
| Type of gene | protein-coding | |
| Description | ubiquitin-conjugating enzyme E2 variant 1DNA-binding proteinTRAF6-regulated IKK activator 1 beta Uev1A | |
| Modification date | 20180523 | |
| UniProtAcc | Q13404 | |
| Context | PubMed: UBE2V1 [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 |
| UBE2V1 | GO:0070534 | protein K63-linked ubiquitination | 16307917|21512573 |
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Exon skipping events across known transcript of Ensembl for UBE2V1 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 UBE2V1 |
| 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 UBE2V1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_357935 | 20 | 48697660:48699451:48700665:48700791:48713208:48713357 | 48700665:48700791 | ENSG00000244687.7 | ENST00000340309.3,ENST00000371677.3,ENST00000486653.1,ENST00000371674.3 |
| exon_skip_357936 | 20 | 48700665:48700791:48713019:48713071:48713208:48713357 | 48713019:48713071 | ENSG00000244687.7 | ENST00000483534.1 |
| exon_skip_357938 | 20 | 48700665:48700791:48713208:48713357:48732021:48732158 | 48713208:48713357 | ENSG00000244687.7 | ENST00000340309.3,ENST00000371677.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UBE2V1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_357935 | 20 | 48697660:48699451:48700665:48700791:48713208:48713357 | 48700665:48700791 | ENSG00000244687.7 | ENST00000371674.3,ENST00000340309.3,ENST00000371677.3,ENST00000486653.1 |
| exon_skip_357936 | 20 | 48700665:48700791:48713019:48713071:48713208:48713357 | 48713019:48713071 | ENSG00000244687.7 | ENST00000483534.1 |
| exon_skip_357938 | 20 | 48700665:48700791:48713208:48713357:48732021:48732158 | 48713208:48713357 | ENSG00000244687.7 | ENST00000340309.3,ENST00000371677.3 |
| 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 UBE2V1 |
| 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 UBE2V1 |
| 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 UBE2V1 |
| - 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 |
| UCEC | TCGA-AP-A0LP-01 | exon_skip_357935 | 48700666 | 48700791 | 48700776 | 48700776 | Nonsense_Mutation | G | A | p.R86* |
| - 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 |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48700666 | 48700791 | 48700723 | 48700723 | Frame_Shift_Del | G | - | p.P80fs |
| NCIH2286_LUNG | 48700666 | 48700791 | 48700676 | 48700676 | Missense_Mutation | G | A | p.S96F |
| MERO14_LUNG | 48700666 | 48700791 | 48700688 | 48700688 | Missense_Mutation | C | T | p.G92E |
| HCT15_LARGE_INTESTINE | 48700666 | 48700791 | 48700755 | 48700755 | Missense_Mutation | C | T | p.E70K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBE2V1 |
| 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 UBE2V1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBE2V1 |
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RelatedDrugs for UBE2V1 |
| 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 UBE2V1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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