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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 OTUD3 |
 Gene summary |
| Gene information | Gene symbol | OTUD3 | Gene ID | 23252 |
| Gene name | OTU deubiquitinase 3 | |
| Synonyms | DUBA4 | |
| Cytomap | 1p36.13 | |
| Type of gene | protein-coding | |
| Description | OTU domain-containing protein 3OTU domain containing 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q5T2D3 | |
| Context | PubMed: OTUD3 [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 |
| OTUD3 | GO:0035871 | protein K11-linked deubiquitination | 23827681|26280536 |
| OTUD3 | GO:0044313 | protein K6-linked deubiquitination | 23827681|26280536 |
| OTUD3 | GO:0050821 | protein stabilization | 26280536 |
| OTUD3 | GO:0051898 | negative regulation of protein kinase B signaling | 26280536 |
| OTUD3 | GO:0071108 | protein K48-linked deubiquitination | 26280536 |
| OTUD3 | GO:1990167 | protein K27-linked deubiquitination | 26280536 |
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Exon skipping events across known transcript of Ensembl for OTUD3 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 OTUD3 |
| 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 OTUD3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2163 | 1 | 20216950:20217026:20220860:20220973:20224032:20224155 | 20220860:20220973 | ENSG00000169914.5 | ENST00000466697.1,ENST00000375120.3 |
| exon_skip_2164 | 1 | 20231383:20231480:20232924:20233109:20234062:20239438 | 20232924:20233109 | ENSG00000169914.5 | ENST00000375120.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for OTUD3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2163 | 1 | 20216950:20217026:20220860:20220973:20224032:20224155 | 20220860:20220973 | ENSG00000169914.5 | ENST00000375120.3,ENST00000466697.1 |
| exon_skip_2164 | 1 | 20231383:20231480:20232924:20233109:20234062:20239438 | 20232924:20233109 | ENSG00000169914.5 | ENST00000375120.3 |
| 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 OTUD3 |
| 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 |
| ENST00000375120 | 20220860 | 20220973 | Frame-shift |
| ENST00000375120 | 20232924 | 20233109 | Frame-shift |
| 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 |
| ENST00000375120 | 20220860 | 20220973 | Frame-shift |
| ENST00000375120 | 20232924 | 20233109 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for OTUD3 |
| 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 OTUD3 |
| - 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 |
| LUAD | TCGA-99-8025-01 | exon_skip_2163 | 20220861 | 20220973 | 20220953 | 20220953 | Frame_Shift_Del | C | - | p.L155fs |
| SKCM | TCGA-DA-A95Y-06 | exon_skip_2164 | 20232925 | 20233109 | 20232954 | 20232954 | Nonsense_Mutation | C | T | p.R289* |
| - 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 |
| NCIH378_LUNG | 20220861 | 20220973 | 20220867 | 20220867 | Missense_Mutation | G | A | p.S126N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 20220861 | 20220973 | 20220872 | 20220872 | Missense_Mutation | G | T | p.A128S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20220861 | 20220973 | 20220872 | 20220872 | Missense_Mutation | G | T | p.A128S |
| OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20220861 | 20220973 | 20220879 | 20220879 | Missense_Mutation | C | T | p.P130L |
| HCC1438_LUNG | 20220861 | 20220973 | 20220941 | 20220941 | Missense_Mutation | G | T | p.V151L |
| EN_ENDOMETRIUM | 20232925 | 20233109 | 20232958 | 20232958 | Missense_Mutation | T | C | p.V290A |
| HCC2108_LUNG | 20232925 | 20233109 | 20232982 | 20232982 | Missense_Mutation | G | T | p.W298L |
| HCC2108_LUNG | 20232925 | 20233109 | 20232993 | 20232993 | Missense_Mutation | G | T | p.G302C |
| HCC2108_LUNG | 20232925 | 20233109 | 20232994 | 20232994 | Missense_Mutation | G | T | p.G302V |
| SNU520_STOMACH | 20232925 | 20233109 | 20233044 | 20233044 | Missense_Mutation | G | A | p.E319K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OTUD3 |
| 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 OTUD3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OTUD3 |
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RelatedDrugs for OTUD3 |
| 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 OTUD3 |
| 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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