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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 UBE2M |
 Gene summary |
| Gene information | Gene symbol | UBE2M | Gene ID | 9040 |
| Gene name | ubiquitin conjugating enzyme E2 M | |
| Synonyms | UBC-RS2|UBC12|hUbc12 | |
| Cytomap | 19q13.43 | |
| Type of gene | protein-coding | |
| Description | NEDD8-conjugating enzyme Ubc12NEDD8 carrier proteinNEDD8 protein ligaseubiquitin carrier protein Mubiquitin conjugating enzyme E2Mubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)ubiquitin-protein ligase Myeast UBC12 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | P61081 | |
| Context | PubMed: UBE2M [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 |
| UBE2M | GO:0045116 | protein neddylation | 19250909 |
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Exon skipping events across known transcript of Ensembl for UBE2M 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 UBE2M |
| 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 UBE2M |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322836 | 19 | 59067507:59067596:59067682:59067746:59068053:59068157 | 59067682:59067746 | ENSG00000130725.3 | ENST00000595957.1,ENST00000253023.3 |
| exon_skip_322840 | 19 | 59067682:59067746:59068053:59068157:59068258:59068297 | 59068053:59068157 | ENSG00000130725.3 | ENST00000595957.1,ENST00000253023.3,ENST00000596985.1 |
| exon_skip_322841 | 19 | 59068053:59068157:59068258:59068297:59068429:59068456 | 59068258:59068297 | ENSG00000130725.3 | ENST00000593801.1,ENST00000595957.1,ENST00000253023.3,ENST00000596985.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UBE2M |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322836 | 19 | 59067507:59067596:59067682:59067746:59068053:59068157 | 59067682:59067746 | ENSG00000130725.3 | ENST00000253023.3,ENST00000595957.1 |
| exon_skip_322840 | 19 | 59067682:59067746:59068053:59068157:59068258:59068297 | 59068053:59068157 | ENSG00000130725.3 | ENST00000253023.3,ENST00000595957.1,ENST00000596985.1 |
| exon_skip_322841 | 19 | 59068053:59068157:59068258:59068297:59068429:59068456 | 59068258:59068297 | ENSG00000130725.3 | ENST00000253023.3,ENST00000595957.1,ENST00000596985.1,ENST00000593801.1 |
| 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 UBE2M |
| 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 |
| ENST00000253023 | 59067682 | 59067746 | Frame-shift |
| ENST00000253023 | 59068053 | 59068157 | Frame-shift |
| ENST00000253023 | 59068258 | 59068297 | 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 |
| ENST00000253023 | 59067682 | 59067746 | Frame-shift |
| ENST00000253023 | 59068053 | 59068157 | Frame-shift |
| ENST00000253023 | 59068258 | 59068297 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UBE2M |
| 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 |
| ENST00000253023 | 1525 | 183 | 59068258 | 59068297 | 784 | 822 | 68 | 81 |
| 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 |
| ENST00000253023 | 1525 | 183 | 59068258 | 59068297 | 784 | 822 | 68 | 81 |
| 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 |
| P61081 | 68 | 81 | 67 | 69 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8X |
| P61081 | 68 | 81 | 76 | 81 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8X |
| P61081 | 68 | 81 | 1 | 183 | Chain | ID=PRO_0000082488;Note=NEDD8-conjugating enzyme Ubc12 |
| P61081 | 68 | 81 | 70 | 73 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8X |
| 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 |
| P61081 | 68 | 81 | 67 | 69 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8X |
| P61081 | 68 | 81 | 76 | 81 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8X |
| P61081 | 68 | 81 | 1 | 183 | Chain | ID=PRO_0000082488;Note=NEDD8-conjugating enzyme Ubc12 |
| P61081 | 68 | 81 | 70 | 73 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1Y8X |
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SNVs in the skipped exons for UBE2M |
| - 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. |
UBE2M_GBM_exon_skip_322836_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 |
| STAD | TCGA-BR-4257-01 | exon_skip_322840 | 59068054 | 59068157 | 59068128 | 59068128 | Frame_Shift_Del | G | - | p.K92fs |
| LUSC | TCGA-33-6737-01 | exon_skip_322840 | 59068054 | 59068157 | 59068153 | 59068153 | Frame_Shift_Del | C | - | p.G83fs |
| GBM | TCGA-28-5204-01 | exon_skip_322836 | 59067683 | 59067746 | 59067682 | 59067682 | Splice_Site | C | T | p.L137_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-28-5204-01 |
| Cancer type: GBM | |
| ESID: exon_skip_322836 | |
| Skipped exon start: 59067683 | |
| Skipped exon end: 59067746 | |
| Mutation start: 59067682 | |
| Mutation end: 59067682 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.L137_splice | |
exon_skip_322836_GBM_TCGA-28-5204-01.png | |
exon_skip_475859_GBM_TCGA-28-5204-01.png | |
exon_skip_475860_GBM_TCGA-28-5204-01.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 |
| HEC251_ENDOMETRIUM | 59067683 | 59067746 | 59067691 | 59067691 | Missense_Mutation | G | T | p.L135I |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59067683 | 59067746 | 59067724 | 59067724 | Missense_Mutation | T | G | p.T124P |
| BFTC909_KIDNEY | 59068054 | 59068157 | 59068115 | 59068115 | Nonsense_Mutation | C | A | p.E96* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBE2M |
| 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 UBE2M |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBE2M |
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RelatedDrugs for UBE2M |
| 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 UBE2M |
| 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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