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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 WDR63 |
Gene summary |
| Gene information | Gene symbol | WDR63 | Gene ID | 126820 |
| Gene name | WD repeat domain 63 | |
| Synonyms | DIC3|NYD-SP29 | |
| Cytomap | 1p22.3 | |
| Type of gene | protein-coding | |
| Description | WD repeat-containing protein 63testicular tissue protein Li 225testis development protein NYD-SP29 (NYD-SP29) | |
| Modification date | 20180523 | |
| UniProtAcc | Q8IWG1 | |
| Context | PubMed: WDR63 [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 WDR63 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 WDR63 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for WDR63 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7628 | 1 | 85537610:85537688:85538736:85538775:85546916:85547098 | 85538736:85538775 | ENSG00000162643.8 | ENST00000294664.6,ENST00000464801.1,ENST00000370596.1,ENST00000326813.8 |
| exon_skip_7629 | 1 | 85546916:85547098:85547982:85548087:85550228:85550251 | 85547982:85548087 | ENSG00000162643.8 | ENST00000294664.6,ENST00000528899.1,ENST00000464801.1,ENST00000370596.1,ENST00000326813.8 |
| exon_skip_7630 | 1 | 85551513:85551713:85555798:85555915:85559140:85559331 | 85555798:85555915 | ENSG00000162643.8 | ENST00000294664.6,ENST00000464801.1 |
| exon_skip_7632 | 1 | 85592235:85592398:85594390:85594482:85595672:85595795 | 85594390:85594482 | ENSG00000162643.8 | ENST00000294664.6,ENST00000464801.1,ENST00000484007.1,ENST00000370596.1,ENST00000326813.8 |
| exon_skip_7633 | 1 | 85594390:85594482:85595672:85595795:85598537:85598710 | 85595672:85595795 | ENSG00000162643.8 | ENST00000294664.6,ENST00000464801.1,ENST00000370596.1,ENST00000326813.8 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WDR63 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_7628 | 1 | 85537610:85537688:85538736:85538775:85546916:85547098 | 85538736:85538775 | ENSG00000162643.8 | ENST00000370596.1,ENST00000326813.8,ENST00000294664.6,ENST00000464801.1 |
| exon_skip_7629 | 1 | 85546916:85547098:85547982:85548087:85550228:85550251 | 85547982:85548087 | ENSG00000162643.8 | ENST00000370596.1,ENST00000326813.8,ENST00000294664.6,ENST00000528899.1,ENST00000464801.1 |
| exon_skip_7630 | 1 | 85551513:85551713:85555798:85555915:85559140:85559331 | 85555798:85555915 | ENSG00000162643.8 | ENST00000294664.6,ENST00000464801.1 |
| exon_skip_7632 | 1 | 85592235:85592398:85594390:85594482:85595672:85595795 | 85594390:85594482 | ENSG00000162643.8 | ENST00000370596.1,ENST00000326813.8,ENST00000294664.6,ENST00000464801.1,ENST00000484007.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for WDR63 |
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 |
| ENST00000294664 | 85594390 | 85594482 | Frame-shift |
| ENST00000294664 | 85538736 | 85538775 | In-frame |
| ENST00000294664 | 85547982 | 85548087 | In-frame |
| ENST00000294664 | 85555798 | 85555915 | In-frame |
| ENST00000294664 | 85595672 | 85595795 | 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 |
| ENST00000294664 | 85594390 | 85594482 | Frame-shift |
| ENST00000294664 | 85538736 | 85538775 | In-frame |
| ENST00000294664 | 85547982 | 85548087 | In-frame |
| ENST00000294664 | 85555798 | 85555915 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WDR63 |
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 |
| ENST00000294664 | 3012 | 891 | 85538736 | 85538775 | 245 | 283 | 21 | 34 |
| ENST00000294664 | 3012 | 891 | 85547982 | 85548087 | 466 | 570 | 95 | 130 |
| ENST00000294664 | 3012 | 891 | 85555798 | 85555915 | 921 | 1037 | 247 | 285 |
| ENST00000294664 | 3012 | 891 | 85595672 | 85595795 | 2590 | 2712 | 803 | 844 |
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 |
| ENST00000294664 | 3012 | 891 | 85538736 | 85538775 | 245 | 283 | 21 | 34 |
| ENST00000294664 | 3012 | 891 | 85547982 | 85548087 | 466 | 570 | 95 | 130 |
| ENST00000294664 | 3012 | 891 | 85555798 | 85555915 | 921 | 1037 | 247 | 285 |
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 |
| Q8IWG1 | 21 | 34 | 1 | 891 | Chain | ID=PRO_0000233162;Note=WD repeat-containing protein 63 |
| Q8IWG1 | 95 | 130 | 1 | 891 | Chain | ID=PRO_0000233162;Note=WD repeat-containing protein 63 |
| Q8IWG1 | 95 | 130 | 108 | 108 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8IWG1 | 247 | 285 | 247 | 286 | Alternative sequence | ID=VSP_018080;Note=In isoform 2. WTYPKNATTQYYPREFSEEEKETLKQSKPLVDFLNNASIS->C;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWG1 | 247 | 285 | 1 | 891 | Chain | ID=PRO_0000233162;Note=WD repeat-containing protein 63 |
| Q8IWG1 | 803 | 844 | 1 | 891 | Chain | ID=PRO_0000233162;Note=WD repeat-containing protein 63 |
| Q8IWG1 | 803 | 844 | 818 | 861 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
| Q8IWG1 | 21 | 34 | 1 | 891 | Chain | ID=PRO_0000233162;Note=WD repeat-containing protein 63 |
| Q8IWG1 | 95 | 130 | 1 | 891 | Chain | ID=PRO_0000233162;Note=WD repeat-containing protein 63 |
| Q8IWG1 | 95 | 130 | 108 | 108 | Sequence conflict | Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8IWG1 | 247 | 285 | 247 | 286 | Alternative sequence | ID=VSP_018080;Note=In isoform 2. WTYPKNATTQYYPREFSEEEKETLKQSKPLVDFLNNASIS->C;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8IWG1 | 247 | 285 | 1 | 891 | Chain | ID=PRO_0000233162;Note=WD repeat-containing protein 63 |
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SNVs in the skipped exons for WDR63 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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-A3A0-01 | exon_skip_7630 | 85555799 | 85555915 | 85555869 | 85555869 | Frame_Shift_Del | A | - | p.K271fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_7632 | 85594391 | 85594482 | 85594419 | 85594419 | Frame_Shift_Del | T | - | p.D782fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_7633 | 85595673 | 85595795 | 85595787 | 85595787 | Frame_Shift_Del | A | - | p.K843fs |
| UCEC | TCGA-AP-A056-01 | exon_skip_7629 | 85547983 | 85548087 | 85548073 | 85548073 | Nonsense_Mutation | G | T | p.E126* |
| READ | TCGA-F5-6814-01 | exon_skip_7633 | 85595673 | 85595795 | 85595769 | 85595769 | Nonsense_Mutation | G | T | p.E836X |
| UCS | TCGA-N5-A4RF-01 | exon_skip_7630 | 85555799 | 85555915 | 85555917 | 85555918 | Splice_Site | - | A | . |
- 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 |
| SNU1_STOMACH | 85595673 | 85595795 | 85595736 | 85595736 | Frame_Shift_Del | A | - | p.K826fs |
| CCK81_LARGE_INTESTINE | 85595673 | 85595795 | 85595787 | 85595787 | Frame_Shift_Del | A | - | p.K843fs |
| IGROV1_OVARY | 85595673 | 85595795 | 85595787 | 85595787 | Frame_Shift_Del | A | - | p.K843fs |
| EN_ENDOMETRIUM | 85595673 | 85595795 | 85595786 | 85595787 | Frame_Shift_Ins | - | A | p.K842fs |
| SW684_SOFT_TISSUE | 85538737 | 85538775 | 85538751 | 85538751 | Missense_Mutation | G | A | p.E27K |
| 786O_KIDNEY | 85538737 | 85538775 | 85538765 | 85538765 | Missense_Mutation | G | A | p.M31I |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 85547983 | 85548087 | 85547993 | 85547993 | Missense_Mutation | G | T | p.G99V |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 85547983 | 85548087 | 85548025 | 85548025 | Missense_Mutation | T | C | p.F110L |
| CAL12T_LUNG | 85555799 | 85555915 | 85555822 | 85555822 | Missense_Mutation | C | G | p.T255R |
| HEC251_ENDOMETRIUM | 85594391 | 85594482 | 85594419 | 85594419 | Missense_Mutation | T | G | p.D782E |
| MDAMB468_BREAST | 85594391 | 85594482 | 85594463 | 85594463 | Missense_Mutation | G | A | p.S797N |
| SNU175_LARGE_INTESTINE | 85595673 | 85595795 | 85595739 | 85595739 | Missense_Mutation | A | G | p.K826E |
| HCC2998_LARGE_INTESTINE | 85595673 | 85595795 | 85595745 | 85595745 | Missense_Mutation | C | T | p.R828C |
| SNU81_LARGE_INTESTINE | 85595673 | 85595795 | 85595745 | 85595745 | Missense_Mutation | C | T | p.R828C |
| NCIH1573_LUNG | 85595673 | 85595795 | 85595746 | 85595746 | Missense_Mutation | G | A | p.R828H |
| UMUC6_URINARY_TRACT | 85595673 | 85595795 | 85595748 | 85595748 | Missense_Mutation | G | C | p.E829Q |
| KD_SOFT_TISSUE | 85595673 | 85595795 | 85595782 | 85595782 | Missense_Mutation | C | A | p.A840E |
| JHUEM7_ENDOMETRIUM | 85555799 | 85555915 | 85555839 | 85555839 | Nonsense_Mutation | G | T | p.E261* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR63 |
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 WDR63 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR63 |
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RelatedDrugs for WDR63 |
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 WDR63 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |