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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 WDR76 |
 Gene summary |
| Gene information | Gene symbol | WDR76 | Gene ID | 79968 |
| Gene name | WD repeat domain 76 | |
| Synonyms | CDW14 | |
| Cytomap | 15q15.3 | |
| Type of gene | protein-coding | |
| Description | WD repeat-containing protein 76 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H967 | |
| Context | PubMed: WDR76 [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 |
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Exon skipping events across known transcript of Ensembl for WDR76 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 WDR76 |
| 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 WDR76 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_121607 | 15 | 44120272:44120564:44127258:44127348:44128358:44128414 | 44127258:44127348 | ENSG00000092470.7 | ENST00000381246.2,ENST00000263795.6,ENST00000452115.1 |
| exon_skip_121608 | 15 | 44127258:44127348:44128358:44128414:44131802:44131926 | 44128358:44128414 | ENSG00000092470.7 | ENST00000381246.2,ENST00000263795.6,ENST00000452115.1 |
| exon_skip_121609 | 15 | 44131802:44131926:44134612:44134714:44134825:44134869 | 44134612:44134714 | ENSG00000092470.7 | ENST00000381246.2,ENST00000263795.6,ENST00000452115.1 |
| exon_skip_121612 | 15 | 44134825:44134869:44136098:44136252:44143284:44143443 | 44136098:44136252 | ENSG00000092470.7 | ENST00000381246.2,ENST00000263795.6 |
| exon_skip_121613 | 15 | 44136098:44136252:44143284:44143443:44149143:44149361 | 44143284:44143443 | ENSG00000092470.7 | ENST00000381246.2,ENST00000263795.6 |
| exon_skip_121614 | 15 | 44143284:44143443:44149143:44149361:44150868:44151021 | 44149143:44149361 | ENSG00000092470.7 | ENST00000381246.2,ENST00000263795.6 |
| exon_skip_121617 | 15 | 44149143:44149361:44150868:44151021:44153530:44153584 | 44150868:44151021 | ENSG00000092470.7 | ENST00000381246.2,ENST00000263795.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WDR76 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_121607 | 15 | 44120272:44120564:44127258:44127348:44128358:44128414 | 44127258:44127348 | ENSG00000092470.7 | ENST00000263795.6,ENST00000381246.2,ENST00000452115.1 |
| exon_skip_121608 | 15 | 44127258:44127348:44128358:44128414:44131802:44131926 | 44128358:44128414 | ENSG00000092470.7 | ENST00000263795.6,ENST00000381246.2,ENST00000452115.1 |
| exon_skip_121609 | 15 | 44131802:44131926:44134612:44134714:44134825:44134869 | 44134612:44134714 | ENSG00000092470.7 | ENST00000263795.6,ENST00000381246.2,ENST00000452115.1 |
| exon_skip_121612 | 15 | 44134825:44134869:44136098:44136252:44143284:44143443 | 44136098:44136252 | ENSG00000092470.7 | ENST00000263795.6,ENST00000381246.2 |
| exon_skip_121613 | 15 | 44136098:44136252:44143284:44143443:44149143:44149361 | 44143284:44143443 | ENSG00000092470.7 | ENST00000263795.6,ENST00000381246.2 |
| exon_skip_121614 | 15 | 44143284:44143443:44149143:44149361:44150868:44151021 | 44149143:44149361 | ENSG00000092470.7 | ENST00000263795.6,ENST00000381246.2 |
| exon_skip_121617 | 15 | 44149143:44149361:44150868:44151021:44153530:44153584 | 44150868:44151021 | ENSG00000092470.7 | ENST00000263795.6,ENST00000381246.2 |
| 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 WDR76 |
| 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 |
| ENST00000263795 | 44128358 | 44128414 | Frame-shift |
| ENST00000263795 | 44136098 | 44136252 | Frame-shift |
| ENST00000263795 | 44149143 | 44149361 | Frame-shift |
| ENST00000263795 | 44127258 | 44127348 | In-frame |
| ENST00000263795 | 44134612 | 44134714 | In-frame |
| ENST00000263795 | 44143284 | 44143443 | In-frame |
| ENST00000263795 | 44150868 | 44151021 | 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 |
| ENST00000263795 | 44128358 | 44128414 | Frame-shift |
| ENST00000263795 | 44136098 | 44136252 | Frame-shift |
| ENST00000263795 | 44149143 | 44149361 | Frame-shift |
| ENST00000263795 | 44127258 | 44127348 | In-frame |
| ENST00000263795 | 44134612 | 44134714 | In-frame |
| ENST00000263795 | 44143284 | 44143443 | In-frame |
| ENST00000263795 | 44150868 | 44151021 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WDR76 |
| 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 |
| ENST00000263795 | 3995 | 626 | 44127258 | 44127348 | 533 | 622 | 154 | 184 |
| ENST00000263795 | 3995 | 626 | 44134612 | 44134714 | 803 | 904 | 244 | 278 |
| ENST00000263795 | 3995 | 626 | 44143284 | 44143443 | 1103 | 1261 | 344 | 397 |
| ENST00000263795 | 3995 | 626 | 44150868 | 44151021 | 1480 | 1632 | 470 | 520 |
| 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 |
| ENST00000263795 | 3995 | 626 | 44127258 | 44127348 | 533 | 622 | 154 | 184 |
| ENST00000263795 | 3995 | 626 | 44134612 | 44134714 | 803 | 904 | 244 | 278 |
| ENST00000263795 | 3995 | 626 | 44143284 | 44143443 | 1103 | 1261 | 344 | 397 |
| ENST00000263795 | 3995 | 626 | 44150868 | 44151021 | 1480 | 1632 | 470 | 520 |
| 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 |
| Q9H967 | 154 | 184 | 1 | 626 | Chain | ID=PRO_0000242691;Note=WD repeat-containing protein 76 |
| Q9H967 | 244 | 278 | 1 | 626 | Chain | ID=PRO_0000242691;Note=WD repeat-containing protein 76 |
| Q9H967 | 344 | 397 | 1 | 626 | Chain | ID=PRO_0000242691;Note=WD repeat-containing protein 76 |
| Q9H967 | 344 | 397 | 311 | 352 | Repeat | Note=WD 1 |
| Q9H967 | 344 | 397 | 358 | 400 | Repeat | Note=WD 2 |
| Q9H967 | 470 | 520 | 1 | 626 | Chain | ID=PRO_0000242691;Note=WD repeat-containing protein 76 |
| Q9H967 | 470 | 520 | 446 | 485 | Repeat | Note=WD 4 |
| Q9H967 | 470 | 520 | 493 | 533 | Repeat | Note=WD 5 |
| 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 |
| Q9H967 | 154 | 184 | 1 | 626 | Chain | ID=PRO_0000242691;Note=WD repeat-containing protein 76 |
| Q9H967 | 244 | 278 | 1 | 626 | Chain | ID=PRO_0000242691;Note=WD repeat-containing protein 76 |
| Q9H967 | 344 | 397 | 1 | 626 | Chain | ID=PRO_0000242691;Note=WD repeat-containing protein 76 |
| Q9H967 | 344 | 397 | 311 | 352 | Repeat | Note=WD 1 |
| Q9H967 | 344 | 397 | 358 | 400 | Repeat | Note=WD 2 |
| Q9H967 | 470 | 520 | 1 | 626 | Chain | ID=PRO_0000242691;Note=WD repeat-containing protein 76 |
| Q9H967 | 470 | 520 | 446 | 485 | Repeat | Note=WD 4 |
| Q9H967 | 470 | 520 | 493 | 533 | Repeat | Note=WD 5 |
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SNVs in the skipped exons for WDR76 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_121607 | 44127259 | 44127348 | 44127322 | 44127322 | Frame_Shift_Del | T | - | p.F177fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_121612 | 44136099 | 44136252 | 44136148 | 44136148 | Frame_Shift_Del | A | - | p.K310fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_121613 | 44143285 | 44143443 | 44143316 | 44143316 | Frame_Shift_Del | T | - | p.V355fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_121617 | 44150869 | 44151021 | 44150965 | 44150965 | Frame_Shift_Del | T | - | p.Y502fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_121607 | 44127259 | 44127348 | 44127321 | 44127322 | Frame_Shift_Ins | - | T | p.DF175fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_121609 | 44134613 | 44134714 | 44134637 | 44134637 | Nonsense_Mutation | G | T | p.E253* |
| LUSC | TCGA-66-2734-01 | exon_skip_121613 | 44143285 | 44143443 | 44143306 | 44143306 | Nonsense_Mutation | G | T | p.G352* |
| - 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 |
| HT29_LARGE_INTESTINE | 44149144 | 44149361 | 44149341 | 44149341 | Frame_Shift_Del | T | - | p.Y463fs |
| SNU407_LARGE_INTESTINE | 44127259 | 44127348 | 44127321 | 44127322 | Frame_Shift_Ins | - | T | p.F176fs |
| SCC25_UPPER_AERODIGESTIVE_TRACT | 44127259 | 44127348 | 44127299 | 44127299 | Missense_Mutation | A | G | p.K168R |
| HEC6_ENDOMETRIUM | 44127259 | 44127348 | 44127316 | 44127316 | Missense_Mutation | G | A | p.A174T |
| COLO684_ENDOMETRIUM | 44127259 | 44127348 | 44127316 | 44127316 | Missense_Mutation | G | A | p.A174T |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 44127259 | 44127348 | 44127332 | 44127332 | Missense_Mutation | C | T | p.S179F |
| SNU1040_LARGE_INTESTINE | 44128359 | 44128414 | 44128375 | 44128375 | Missense_Mutation | G | A | p.R190H |
| COLO792_SKIN | 44128359 | 44128414 | 44128401 | 44128401 | Missense_Mutation | C | T | p.P199S |
| OC316_OVARY | 44134613 | 44134714 | 44134631 | 44134631 | Missense_Mutation | C | T | p.P251S |
| OC314_OVARY | 44134613 | 44134714 | 44134631 | 44134631 | Missense_Mutation | C | T | p.P251S |
| EN_ENDOMETRIUM | 44136099 | 44136252 | 44136101 | 44136101 | Missense_Mutation | A | G | p.Y294C |
| TE6_OESOPHAGUS | 44136099 | 44136252 | 44136140 | 44136140 | Missense_Mutation | C | T | p.T307I |
| TE6_OESOPHAGUS | 44136099 | 44136252 | 44136140 | 44136141 | Missense_Mutation | CC | TT | p.T307I |
| UMUC6_URINARY_TRACT | 44136099 | 44136252 | 44136191 | 44136191 | Missense_Mutation | C | T | p.S324L |
| HEC251_ENDOMETRIUM | 44136099 | 44136252 | 44136224 | 44136224 | Missense_Mutation | A | C | p.K335T |
| HARA_LUNG | 44136099 | 44136252 | 44136230 | 44136230 | Missense_Mutation | G | T | p.G337V |
| TE5_OESOPHAGUS | 44149144 | 44149361 | 44149265 | 44149265 | Missense_Mutation | C | T | p.T438I |
| A2780_OVARY | 44149144 | 44149361 | 44149300 | 44149300 | Missense_Mutation | A | G | p.K450E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR76 |
| 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 WDR76 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR76 |
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RelatedDrugs for WDR76 |
| 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 WDR76 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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