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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 WDR11 |
Gene summary |
| Gene information | Gene symbol | WDR11 | Gene ID | 55717 |
| Gene name | WD repeat domain 11 | |
| Synonyms | BRWD2|DR11|HH14|SRI1|WDR15 | |
| Cytomap | 10q26.12 | |
| Type of gene | protein-coding | |
| Description | WD repeat-containing protein 11WD repeat domain 15WD repeat-containing protein 15bromodomain and WD repeat-containing protein 2sensitization to ricin complex subunit 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BZH6 | |
| Context | PubMed: WDR11 [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 WDR11 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 WDR11 |
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 WDR11 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45488 | 10 | 122610915:122611039:122612035:122612147:122618154:122618308 | 122612035:122612147 | ENSG00000120008.11 | ENST00000605178.1,ENST00000605202.1 |
| exon_skip_45493 | 10 | 122612127:122612147:122615593:122615642:122618154:122618308 | 122615593:122615642 | ENSG00000120008.11 | ENST00000604585.1 |
| exon_skip_45495 | 10 | 122618215:122618308:122619620:122619794:122622246:122622421 | 122619620:122619794 | ENSG00000120008.11 | ENST00000263461.6,ENST00000604585.1,ENST00000605069.1,ENST00000497136.2 |
| exon_skip_45498 | 10 | 122626086:122626276:122626577:122626681:122630681:122630858 | 122626577:122626681 | ENSG00000120008.11 | ENST00000263461.6,ENST00000604585.1 |
| exon_skip_45506 | 10 | 122637864:122637971:122640337:122640413:122643291:122643317 | 122640337:122640413 | ENSG00000120008.11 | ENST00000263461.6,ENST00000604220.1,ENST00000605543.1,ENST00000497136.2 |
| exon_skip_45510 | 10 | 122649406:122649521:122650227:122650399:122659540:122659649 | 122650227:122650399 | ENSG00000120008.11 | ENST00000263461.6,ENST00000605543.1,ENST00000497136.2 |
| exon_skip_45512 | 10 | 122650227:122650399:122659540:122659649:122660547:122660610 | 122659540:122659649 | ENSG00000120008.11 | ENST00000263461.6,ENST00000605543.1,ENST00000497136.2 |
| exon_skip_45515 | 10 | 122664830:122664928:122665387:122665533:122666287:122666367 | 122665387:122665533 | ENSG00000120008.11 | ENST00000263461.6,ENST00000604509.1,ENST00000605543.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WDR11 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45488 | 10 | 122610915:122611039:122612035:122612147:122618154:122618308 | 122612035:122612147 | ENSG00000120008.11 | ENST00000605202.1,ENST00000605178.1 |
| exon_skip_45493 | 10 | 122612127:122612147:122615593:122615642:122618154:122618308 | 122615593:122615642 | ENSG00000120008.11 | ENST00000604585.1 |
| exon_skip_45495 | 10 | 122618215:122618308:122619620:122619794:122622246:122622421 | 122619620:122619794 | ENSG00000120008.11 | ENST00000263461.6,ENST00000605069.1,ENST00000604585.1,ENST00000497136.2 |
| exon_skip_45498 | 10 | 122626086:122626276:122626577:122626681:122630681:122630858 | 122626577:122626681 | ENSG00000120008.11 | ENST00000263461.6,ENST00000604585.1 |
| exon_skip_45506 | 10 | 122637864:122637971:122640337:122640413:122643291:122643317 | 122640337:122640413 | ENSG00000120008.11 | ENST00000263461.6,ENST00000605543.1,ENST00000497136.2,ENST00000604220.1 |
| exon_skip_45510 | 10 | 122649406:122649521:122650227:122650399:122659540:122659649 | 122650227:122650399 | ENSG00000120008.11 | ENST00000263461.6,ENST00000605543.1,ENST00000497136.2 |
| exon_skip_45512 | 10 | 122650227:122650399:122659540:122659649:122660547:122660610 | 122659540:122659649 | ENSG00000120008.11 | ENST00000263461.6,ENST00000605543.1,ENST00000497136.2 |
| exon_skip_45515 | 10 | 122664830:122664928:122665387:122665533:122666287:122666367 | 122665387:122665533 | ENSG00000120008.11 | ENST00000263461.6,ENST00000605543.1,ENST00000604509.1 |
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 WDR11 |
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 |
| ENST00000263461 | 122626577 | 122626681 | Frame-shift |
| ENST00000263461 | 122640337 | 122640413 | Frame-shift |
| ENST00000263461 | 122650227 | 122650399 | Frame-shift |
| ENST00000263461 | 122659540 | 122659649 | Frame-shift |
| ENST00000263461 | 122665387 | 122665533 | Frame-shift |
| ENST00000263461 | 122619620 | 122619794 | 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 |
| ENST00000263461 | 122626577 | 122626681 | Frame-shift |
| ENST00000263461 | 122640337 | 122640413 | Frame-shift |
| ENST00000263461 | 122650227 | 122650399 | Frame-shift |
| ENST00000263461 | 122659540 | 122659649 | Frame-shift |
| ENST00000263461 | 122665387 | 122665533 | Frame-shift |
| ENST00000263461 | 122619620 | 122619794 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WDR11 |
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 |
| ENST00000263461 | 4749 | 1224 | 122619620 | 122619794 | 599 | 772 | 117 | 175 |
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 |
| ENST00000263461 | 4749 | 1224 | 122619620 | 122619794 | 599 | 772 | 117 | 175 |
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 |
| Q9BZH6 | 117 | 175 | 1 | 1224 | Chain | ID=PRO_0000050889;Note=WD repeat-containing protein 11 |
| Q9BZH6 | 117 | 175 | 111 | 154 | Repeat | Note=WD 2 |
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 |
| Q9BZH6 | 117 | 175 | 1 | 1224 | Chain | ID=PRO_0000050889;Note=WD repeat-containing protein 11 |
| Q9BZH6 | 117 | 175 | 111 | 154 | Repeat | Note=WD 2 |
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SNVs in the skipped exons for WDR11 |
- 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 |
| KIRC | TCGA-A3-A6NI-01 | exon_skip_45488 | 122612036 | 122612147 | 122612046 | 122612046 | Frame_Shift_Del | G | - | p.Q32fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_45488 | 122612036 | 122612147 | 122612116 | 122612116 | Frame_Shift_Del | T | - | p.V56fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_45498 | 122626578 | 122626681 | 122626653 | 122626653 | Frame_Shift_Del | C | - | p.L422fs |
| STAD | TCGA-BR-8591-01 | exon_skip_45515 | 122665388 | 122665533 | 122665505 | 122665505 | Frame_Shift_Del | T | - | p.C1136fs |
| HNSC | TCGA-CV-5435-01 | exon_skip_45488 | 122612036 | 122612147 | 122612036 | 122612036 | Nonsense_Mutation | G | A | p.W29* |
| SKCM | TCGA-W3-AA1V-06 | exon_skip_45515 | 122665388 | 122665533 | 122665463 | 122665463 | Nonsense_Mutation | C | T | p.Q1123* |
| SKCM | TCGA-DA-A1IC-06 | exon_skip_45515 | 122665388 | 122665533 | 122665387 | 122665387 | Splice_Site | G | 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 |
| ZR751_BREAST | 122619621 | 122619794 | 122619730 | 122619730 | Frame_Shift_Del | G | - | p.K155fs |
| YMB1E_BREAST | 122619621 | 122619794 | 122619730 | 122619730 | Frame_Shift_Del | G | - | p.K155fs |
| JHUEM3_ENDOMETRIUM | 122612036 | 122612147 | 122612064 | 122612064 | Missense_Mutation | T | C | p.C39R |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122619621 | 122619794 | 122619654 | 122619654 | Missense_Mutation | G | A | p.R129H |
| HCC2429_LUNG | 122619621 | 122619794 | 122619662 | 122619662 | Missense_Mutation | C | G | p.L132V |
| SNU738_CENTRAL_NERVOUS_SYSTEM | 122619621 | 122619794 | 122619678 | 122619678 | Missense_Mutation | C | T | p.P137L |
| JHUEM7_ENDOMETRIUM | 122619621 | 122619794 | 122619695 | 122619695 | Missense_Mutation | C | T | p.L143F |
| SQ1_LUNG | 122626578 | 122626681 | 122626627 | 122626627 | Missense_Mutation | C | T | p.P414S |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122650228 | 122650399 | 122650234 | 122650234 | Missense_Mutation | A | G | p.M784V |
| JHH7_LIVER | 122650228 | 122650399 | 122650283 | 122650283 | Missense_Mutation | A | C | p.D800A |
| SNGM_ENDOMETRIUM | 122650228 | 122650399 | 122650298 | 122650298 | Missense_Mutation | C | T | p.T805M |
| EN_ENDOMETRIUM | 122650228 | 122650399 | 122650380 | 122650380 | Missense_Mutation | G | T | p.M832I |
| GRANTA519_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122665388 | 122665533 | 122665392 | 122665392 | Missense_Mutation | G | A | p.R1099H |
| TGBC11TKB_STOMACH | 122665388 | 122665533 | 122665481 | 122665481 | Missense_Mutation | C | A | p.L1129M |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 122626578 | 122626681 | 122626604 | 122626604 | Nonsense_Mutation | C | G | p.S406* |
| KPNRTBM1_AUTONOMIC_GANGLIA | 122650228 | 122650399 | 122650292 | 122650292 | Nonsense_Mutation | G | A | p.W803* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR11 |
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 |
| exon_skip_45515 | 10 | 122664830:122664928:122665387:122665533:122666287:122666367 | 122665387:122665533 | ENST00000263461.6,ENST00000604509.1,ENST00000605543.1 | PRAD | rs3740307 | chr10:122665459 | C/G | 3.12e-03 |
| exon_skip_45515 | 10 | 122664830:122664928:122665387:122665533:122666287:122666367 | 122665387:122665533 | ENST00000263461.6,ENST00000604509.1,ENST00000605543.1 | STAD | rs3740307 | chr10:122665459 | C/G | 3.46e-04 |
| exon_skip_45515 | 10 | 122664830:122664928:122665387:122665533:122666287:122666367 | 122665387:122665533 | ENST00000263461.6,ENST00000604509.1,ENST00000605543.1 | THCA | rs3740307 | chr10:122665459 | C/G | 2.85e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR11 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR11 |
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RelatedDrugs for WDR11 |
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 WDR11 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| WDR11 | C0036341 | Schizophrenia | 1 | CTD_human |
| WDR11 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| WDR11 | C3540450 | HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA | 1 | UNIPROT |