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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 WDR48 |
 Gene summary |
| Gene information | Gene symbol | WDR48 | Gene ID | 57599 |
| Gene name | WD repeat domain 48 | |
| Synonyms | P80|SPG60|UAF1 | |
| Cytomap | 3p22.2 | |
| Type of gene | protein-coding | |
| Description | WD repeat-containing protein 48USP1 associated factor 1WD repeat endosomal proteintesticular tissue protein Li 224 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TAF3 | |
| Context | PubMed: WDR48 [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 |
| WDR48 | GO:0016579 | protein deubiquitination | 18082604|19075014|24145035 |
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Exon skipping events across known transcript of Ensembl for WDR48 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 WDR48 |
| 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 WDR48 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372960 | 3 | 39093510:39093564:39104540:39104681:39107301:39107380 | 39104540:39104681 | ENSG00000114742.9 | ENST00000418020.1,ENST00000420940.2,ENST00000423296.2 |
| exon_skip_372962 | 3 | 39104540:39104681:39107301:39107380:39108038:39108121 | 39107301:39107380 | ENSG00000114742.9 | ENST00000302313.5,ENST00000441361.1,ENST00000420940.2,ENST00000423296.2 |
| exon_skip_372964 | 3 | 39108065:39108121:39108217:39108366:39110261:39110311 | 39108217:39108366 | ENSG00000114742.9 | ENST00000423296.2 |
| exon_skip_372965 | 3 | 39108065:39108121:39108236:39108366:39110261:39110311 | 39108236:39108366 | ENSG00000114742.9 | ENST00000302313.5,ENST00000418020.1,ENST00000396258.3,ENST00000441361.1,ENST00000433841.2,ENST00000413099.2 |
| exon_skip_372966 | 3 | 39118629:39118704:39119627:39119730:39121201:39121299 | 39119627:39119730 | ENSG00000114742.9 | ENST00000302313.5,ENST00000418020.1,ENST00000396258.3,ENST00000420940.2,ENST00000413099.2 |
| exon_skip_372969 | 3 | 39119651:39119730:39121201:39121299:39125645:39125678 | 39121201:39121299 | ENSG00000114742.9 | ENST00000302313.5,ENST00000463198.1,ENST00000418020.1,ENST00000396258.3,ENST00000420940.2,ENST00000489838.1,ENST00000413099.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WDR48 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372960 | 3 | 39093510:39093564:39104540:39104681:39107301:39107380 | 39104540:39104681 | ENSG00000114742.9 | ENST00000423296.2,ENST00000418020.1,ENST00000420940.2 |
| exon_skip_372961 | 3 | 39104540:39104681:39107281:39107380:39108038:39108121 | 39107281:39107380 | ENSG00000114742.9 | ENST00000433841.2 |
| exon_skip_372962 | 3 | 39104540:39104681:39107301:39107380:39108038:39108121 | 39107301:39107380 | ENSG00000114742.9 | ENST00000302313.5,ENST00000423296.2,ENST00000420940.2,ENST00000441361.1 |
| exon_skip_372964 | 3 | 39108065:39108121:39108217:39108366:39110261:39110311 | 39108217:39108366 | ENSG00000114742.9 | ENST00000423296.2 |
| exon_skip_372965 | 3 | 39108065:39108121:39108236:39108366:39110261:39110311 | 39108236:39108366 | ENSG00000114742.9 | ENST00000302313.5,ENST00000413099.2,ENST00000396258.3,ENST00000418020.1,ENST00000433841.2,ENST00000441361.1 |
| exon_skip_372966 | 3 | 39118629:39118704:39119627:39119730:39121201:39121299 | 39119627:39119730 | ENSG00000114742.9 | ENST00000302313.5,ENST00000413099.2,ENST00000396258.3,ENST00000418020.1,ENST00000420940.2 |
| exon_skip_372969 | 3 | 39119651:39119730:39121201:39121299:39125645:39125678 | 39121201:39121299 | ENSG00000114742.9 | ENST00000302313.5,ENST00000413099.2,ENST00000396258.3,ENST00000418020.1,ENST00000420940.2,ENST00000489838.1,ENST00000463198.1 |
| 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 WDR48 |
| 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 |
| ENST00000302313 | 39107301 | 39107380 | Frame-shift |
| ENST00000302313 | 39108236 | 39108366 | Frame-shift |
| ENST00000302313 | 39119627 | 39119730 | Frame-shift |
| ENST00000302313 | 39121201 | 39121299 | 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 |
| ENST00000302313 | 39107301 | 39107380 | Frame-shift |
| ENST00000302313 | 39108236 | 39108366 | Frame-shift |
| ENST00000302313 | 39119627 | 39119730 | Frame-shift |
| ENST00000302313 | 39121201 | 39121299 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for WDR48 |
| 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 WDR48 |
| - 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 |
| PRAD | TCGA-ZG-A8QZ-01 | exon_skip_372960 | 39104541 | 39104681 | 39104561 | 39104561 | Frame_Shift_Del | T | - | p.D23fs |
| OV | TCGA-61-1900-01 | exon_skip_372960 | 39104541 | 39104681 | 39104656 | 39104672 | Frame_Shift_Del | GAAATGGATATTTTCAA | - | p.N504fs |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_372960 | 39104541 | 39104681 | 39104556 | 39104556 | Nonsense_Mutation | C | T | p.R22* |
| - 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 |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 39104541 | 39104681 | 39104677 | 39104677 | Missense_Mutation | A | T | p.H62L |
| SW1353_BONE | 39107302 | 39107380 | 39107316 | 39107316 | Missense_Mutation | A | G | p.I68M |
| A388_SKIN | 39108218 | 39108366 | 39108243 | 39108243 | Missense_Mutation | G | A | p.V120I |
| A388_SKIN | 39108237 | 39108366 | 39108243 | 39108243 | Missense_Mutation | G | A | p.V120I |
| CW2_LARGE_INTESTINE | 39119628 | 39119730 | 39119637 | 39119637 | Missense_Mutation | G | A | p.G328R |
| A375_SKIN | 39119628 | 39119730 | 39119662 | 39119662 | Missense_Mutation | G | A | p.G336E |
| MDAMB361_BREAST | 39119628 | 39119730 | 39119662 | 39119662 | Missense_Mutation | G | A | p.G336E |
| CAL72_BONE | 39104541 | 39104681 | 39104541 | 39104541 | Splice_Site | G | A | p.V17I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR48 |
| 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 WDR48 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR48 |
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RelatedDrugs for WDR48 |
| 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 WDR48 |
| 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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