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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for WDR59

check button Gene summary
Gene informationGene symbol

WDR59

Gene ID

79726

Gene nameWD repeat domain 59
SynonymsCDW12|FP977|p90-120
Cytomap

16q23.1

Type of geneprotein-coding
DescriptionGATOR complex protein WDR59CDw12 antigenWD repeat-containing protein 59
Modification date20180519
UniProtAcc

Q6PJI9

ContextPubMed: WDR59 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for WDR59 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for WDR59

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for WDR59

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1461221674920167:74920294:74921580:74921653:74926381:7492646374921580:74921653ENSG00000103091.10ENST00000563797.1
exon_skip_1461261674922141:74922217:74923600:74923713:74926381:7492646374923600:74923713ENSG00000103091.10ENST00000569788.1,ENST00000567018.1,ENST00000262144.6
exon_skip_1461271674927604:74927710:74933595:74933652:74937844:7493791874933595:74933652ENSG00000103091.10ENST00000569229.1
exon_skip_1461281674927604:74927710:74937844:74937998:74942805:7494287574937844:74937998ENSG00000103091.10ENST00000570070.1,ENST00000262144.6
exon_skip_1461301674937844:74937998:74942805:74942875:74943398:7494350474942805:74942875ENSG00000103091.10ENST00000569229.1,ENST00000570070.1,ENST00000262144.6
exon_skip_1461351674943422:74943555:74943719:74943815:74946095:7494613374943719:74943815ENSG00000103091.10ENST00000569229.1,ENST00000562371.1,ENST00000262144.6
exon_skip_1461361674950024:74950157:74951826:74951906:74955844:7495585874951826:74951906ENSG00000103091.10ENST00000569549.1,ENST00000536050.1,ENST00000561717.1,ENST00000262144.6
exon_skip_1461391674955844:74956001:74957823:74957901:74972047:7497216474957823:74957901ENSG00000103091.10ENST00000536050.1,ENST00000262144.6
exon_skip_1461431674957847:74957901:74972047:74972164:74976635:7497672474972047:74972164ENSG00000103091.10ENST00000536050.1,ENST00000262144.6
exon_skip_1461441674957847:74957901:74972047:74972164:74982416:7498245474972047:74972164ENSG00000103091.10ENST00000568462.1
exon_skip_1461501674972148:74972164:74976635:74976724:74982416:7498245474976635:74976724ENSG00000103091.10ENST00000536050.1,ENST00000262144.6
exon_skip_1461551674985355:74985441:74990372:74990508:74999670:7499970874990372:74990508ENSG00000103091.10ENST00000562331.1,ENST00000536050.1,ENST00000568323.1,ENST00000262144.6,ENST00000563111.1,ENST00000568462.1
exon_skip_1461571674990381:74990508:74993247:74993490:74999670:7499970874993247:74993490ENSG00000103091.10ENST00000564859.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for WDR59

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_1461221674920167:74920294:74921580:74921653:74926381:7492646374921580:74921653ENSG00000103091.10ENST00000563797.1
exon_skip_1461261674922141:74922217:74923600:74923713:74926381:7492646374923600:74923713ENSG00000103091.10ENST00000262144.6,ENST00000567018.1,ENST00000569788.1
exon_skip_1461271674927604:74927710:74933595:74933652:74937844:7493791874933595:74933652ENSG00000103091.10ENST00000569229.1
exon_skip_1461281674927604:74927710:74937844:74937998:74942805:7494287574937844:74937998ENSG00000103091.10ENST00000262144.6,ENST00000570070.1
exon_skip_1461301674937844:74937998:74942805:74942875:74943398:7494350474942805:74942875ENSG00000103091.10ENST00000262144.6,ENST00000569229.1,ENST00000570070.1
exon_skip_1461351674943422:74943555:74943719:74943815:74946095:7494613374943719:74943815ENSG00000103091.10ENST00000262144.6,ENST00000569229.1,ENST00000562371.1
exon_skip_1461361674950024:74950157:74951826:74951906:74955844:7495585874951826:74951906ENSG00000103091.10ENST00000262144.6,ENST00000569549.1,ENST00000536050.1,ENST00000561717.1
exon_skip_1461391674955844:74956001:74957823:74957901:74972047:7497216474957823:74957901ENSG00000103091.10ENST00000262144.6,ENST00000536050.1
exon_skip_1461431674957847:74957901:74972047:74972164:74976635:7497672474972047:74972164ENSG00000103091.10ENST00000262144.6,ENST00000536050.1
exon_skip_1461441674957847:74957901:74972047:74972164:74982416:7498245474972047:74972164ENSG00000103091.10ENST00000568462.1
exon_skip_1461501674972148:74972164:74976635:74976724:74982416:7498245474976635:74976724ENSG00000103091.10ENST00000262144.6,ENST00000536050.1
exon_skip_1461551674985355:74985441:74990372:74990508:74999670:7499970874990372:74990508ENSG00000103091.10ENST00000262144.6,ENST00000536050.1,ENST00000568462.1,ENST00000568323.1,ENST00000563111.1,ENST00000562331.1
exon_skip_1461571674990381:74990508:74993247:74993490:74999670:7499970874993247:74993490ENSG00000103091.10ENST00000564859.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for WDR59

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002621447492360074923713Frame-shift
ENST000002621447493784474937998Frame-shift
ENST000002621447494280574942875Frame-shift
ENST000002621447495182674951906Frame-shift
ENST000002621447497663574976724Frame-shift
ENST000002621447499037274990508Frame-shift
ENST000002621447494371974943815In-frame
ENST000002621447495782374957901In-frame
ENST000002621447497204774972164In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002621447492360074923713Frame-shift
ENST000002621447493784474937998Frame-shift
ENST000002621447494280574942875Frame-shift
ENST000002621447495182674951906Frame-shift
ENST000002621447497663574976724Frame-shift
ENST000002621447499037274990508Frame-shift
ENST000002621447494371974943815In-frame
ENST000002621447495782374957901In-frame
ENST000002621447497204774972164In-frame

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Infer the effects of exon skipping event on protein functional features for WDR59

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000026214437129747497204774972164666782178217
ENST0000026214437129747495782374957901783860217243
ENST000002621443712974749437197494381515211616463495

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000026214437129747497204774972164666782178217
ENST0000026214437129747495782374957901783860217243
ENST000002621443712974749437197494381515211616463495

check button 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 featureDescription of feature
Q6PJI91782171556Alternative sequenceID=VSP_023881;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6PJI91782171408Alternative sequenceID=VSP_023882;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15498874
Q6PJI91782171974ChainID=PRO_0000280721;Note=GATOR complex protein WDR59
Q6PJI9178217201201Natural variantID=VAR_053436;Note=P->T;Dbxref=dbSNP:rs11557260
Q6PJI9178217146185RepeatNote=WD 3
Q6PJI9178217189229RepeatNote=WD 4
Q6PJI92172431556Alternative sequenceID=VSP_023881;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6PJI92172431408Alternative sequenceID=VSP_023882;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15498874
Q6PJI92172431974ChainID=PRO_0000280721;Note=GATOR complex protein WDR59
Q6PJI9217243189229RepeatNote=WD 4
Q6PJI9217243232276RepeatNote=WD 5
Q6PJI94634951556Alternative sequenceID=VSP_023881;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6PJI94634951974ChainID=PRO_0000280721;Note=GATOR complex protein WDR59
Q6PJI9463495393494DomainNote=RWD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00179


check button 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 featureDescription of feature
Q6PJI91782171556Alternative sequenceID=VSP_023881;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6PJI91782171408Alternative sequenceID=VSP_023882;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15498874
Q6PJI91782171974ChainID=PRO_0000280721;Note=GATOR complex protein WDR59
Q6PJI9178217201201Natural variantID=VAR_053436;Note=P->T;Dbxref=dbSNP:rs11557260
Q6PJI9178217146185RepeatNote=WD 3
Q6PJI9178217189229RepeatNote=WD 4
Q6PJI92172431556Alternative sequenceID=VSP_023881;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6PJI92172431408Alternative sequenceID=VSP_023882;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15498874;Dbxref=PMID:14702039,PMID:15498874
Q6PJI92172431974ChainID=PRO_0000280721;Note=GATOR complex protein WDR59
Q6PJI9217243189229RepeatNote=WD 4
Q6PJI9217243232276RepeatNote=WD 5
Q6PJI94634951556Alternative sequenceID=VSP_023881;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6PJI94634951974ChainID=PRO_0000280721;Note=GATOR complex protein WDR59
Q6PJI9463495393494DomainNote=RWD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00179


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SNVs in the skipped exons for WDR59

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
WDR59_COAD_exon_skip_146150_psi_boxplot.png
boxplot
WDR59_LUAD_exon_skip_146150_psi_boxplot.png
boxplot
WDR59_STAD_exon_skip_146150_psi_boxplot.png
boxplot
WDR59_STAD_exon_skip_146155_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_146128
74937845749379987493789974937899Frame_Shift_DelG-p.P604fs
LIHCTCGA-DD-A3A0-01exon_skip_146135
74943720749438157494372374943723Frame_Shift_DelA-p.F494fs
LIHCTCGA-DD-A1EG-01exon_skip_146135
74943720749438157494381274943812Frame_Shift_DelG-p.L465fs
COADTCGA-G4-6628-01exon_skip_146150
74976636749767247497669174976691Frame_Shift_DelT-p.N160fs
KICHTCGA-KN-8430-01exon_skip_146150
74976636749767247497669174976691Frame_Shift_DelT-p.N160fs
SARCTCGA-WK-A8XX-01exon_skip_146150
74976636749767247497669174976691Frame_Shift_DelT-p.N160fs
STADTCGA-CD-A4MI-01exon_skip_146150
74976636749767247497669174976691Frame_Shift_DelT-p.N160fs
STADTCGA-CG-4305-01exon_skip_146150
74976636749767247497669174976691Frame_Shift_DelT-p.N160fs
STADTCGA-HU-A4GX-01exon_skip_146150
74976636749767247497669174976691Frame_Shift_DelT-p.N160fs
HNSCTCGA-QK-A64Z-01exon_skip_146136
74951827749519067495189274951892Nonsense_MutationGAp.Q301*
LUADTCGA-44-8117-01exon_skip_146143
exon_skip_146144
74972048749721647497208974972089Nonsense_MutationCAp.E204*
STADTCGA-EQ-8122-01exon_skip_146155
74990373749905087499045974990459Nonsense_MutationGAp.R52*
STADTCGA-EQ-8122-01exon_skip_146155
74990373749905087499045974990459Nonsense_MutationGAp.R52X
STADTCGA-FP-A4BE-01exon_skip_146155
74990373749905087499045974990459Nonsense_MutationGAp.R52*
STADTCGA-FP-A4BE-01exon_skip_146155
74990373749905087499045974990459Nonsense_MutationGAp.R52X
LUADTCGA-05-4382-01exon_skip_146150
74976636749767247497663574976635Splice_SiteCTp.R178_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
WDR59_74985355_74985441_74990372_74990508_74999670_74999708_TCGA-EQ-8122-01Sample: TCGA-EQ-8122-01
Cancer type: STAD
ESID: exon_skip_146155
Skipped exon start: 74990373
Skipped exon end: 74990508
Mutation start: 74990459
Mutation end: 74990459
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R52X
WDR59_74985355_74985441_74990372_74990508_74999670_74999708_TCGA-EQ-8122-01Sample: TCGA-EQ-8122-01
Cancer type: STAD
ESID: exon_skip_146155
Skipped exon start: 74990373
Skipped exon end: 74990508
Mutation start: 74990459
Mutation end: 74990459
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.R52*
exon_skip_146155_STAD_TCGA-EQ-8122-01.png
boxplot
WDR59_74972148_74972164_74976635_74976724_74982416_74982454_TCGA-05-4382-01Sample: TCGA-05-4382-01
Cancer type: LUAD
ESID: exon_skip_146150
Skipped exon start: 74976636
Skipped exon end: 74976724
Mutation start: 74976635
Mutation end: 74976635
Mutation type: Splice_Site
Reference seq: C
Mutation seq: T
AAchange: p.R178_splice
exon_skip_129994_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_129996_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_146150_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_19523_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_327136_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_331845_LUAD_TCGA-05-4382-01.png
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exon_skip_347552_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_347557_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_359496_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_367842_LUAD_TCGA-05-4382-01.png
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exon_skip_367844_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_425876_LUAD_TCGA-05-4382-01.png
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exon_skip_434000_LUAD_TCGA-05-4382-01.png
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exon_skip_448593_LUAD_TCGA-05-4382-01.png
boxplot
exon_skip_91823_LUAD_TCGA-05-4382-01.png
boxplot
WDR59_74972148_74972164_74976635_74976724_74982416_74982454_TCGA-CG-4305-01Sample: TCGA-CG-4305-01
Cancer type: STAD
ESID: exon_skip_146150
Skipped exon start: 74976636
Skipped exon end: 74976724
Mutation start: 74976691
Mutation end: 74976691
Mutation type: Frame_Shift_Del
Reference seq: T
Mutation seq: -
AAchange: p.N160fs
exon_skip_111824_STAD_TCGA-CG-4305-01.png
boxplot
exon_skip_111829_STAD_TCGA-CG-4305-01.png
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exon_skip_146150_STAD_TCGA-CG-4305-01.png
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exon_skip_290798_STAD_TCGA-CG-4305-01.png
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exon_skip_301298_STAD_TCGA-CG-4305-01.png
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exon_skip_306904_STAD_TCGA-CG-4305-01.png
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exon_skip_331098_STAD_TCGA-CG-4305-01.png
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exon_skip_340412_STAD_TCGA-CG-4305-01.png
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exon_skip_340419_STAD_TCGA-CG-4305-01.png
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exon_skip_361126_STAD_TCGA-CG-4305-01.png
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exon_skip_382354_STAD_TCGA-CG-4305-01.png
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exon_skip_423582_STAD_TCGA-CG-4305-01.png
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exon_skip_45131_STAD_TCGA-CG-4305-01.png
boxplot
exon_skip_45132_STAD_TCGA-CG-4305-01.png
boxplot
exon_skip_6108_STAD_TCGA-CG-4305-01.png
boxplot
exon_skip_64984_STAD_TCGA-CG-4305-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
JHUEM3_ENDOMETRIUM74937845749379987493797674937976Frame_Shift_DelA-p.Y579fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74976636749767247497669174976691Frame_Shift_DelT-p.N160fs
DV90_LUNG74976636749767247497669174976691Frame_Shift_DelT-p.N160fs
CW2_LARGE_INTESTINE74976636749767247497669074976691Frame_Shift_Ins-Tp.N160fs
STS0421_SOFT_TISSUE74921581749216537492160574921605Missense_MutationGCp.L799V
NCIH1793_LUNG74923601749237137492362274923622Missense_MutationCAp.G725V
LS180_LARGE_INTESTINE74923601749237137492367074923670Missense_MutationGAp.P709L
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74937845749379987493784774937847Missense_MutationGAp.R622W
MCC13_SKIN74937845749379987493793174937931Missense_MutationGAp.P594S
NCIH2342_LUNG74937845749379987493794274937942Missense_MutationCAp.R590L
HT115_LARGE_INTESTINE74943720749438157494378774943787Missense_MutationAGp.V473A
KMH2_THYROID74943720749438157494380874943808Missense_MutationTCp.K466R
NCIH28_PLEURA74943720749438157494380974943809Missense_MutationTCp.K466E
MELJUSO_SKIN74957824749579017495785974957859Missense_MutationGAp.P232S
SNU175_LARGE_INTESTINE74957824749579017495788074957880Missense_MutationGAp.R225W
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74957824749579017495788874957888Missense_MutationCTp.R222H
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74972048749721647497208574972085Missense_MutationTCp.H205R
TE10_OESOPHAGUS74976636749767247497664874976648Missense_MutationTCp.I174M
T84_LARGE_INTESTINE74990373749905087499038074990380Missense_MutationGAp.A78V
PL18_PANCREAS74990373749905087499040474990404Missense_MutationTAp.H70L
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE74990373749905087499044674990446Missense_MutationCTp.R56H
EFO27_OVARY74990373749905087499046574990465Missense_MutationCAp.G50C
SNU81_LARGE_INTESTINE74990373749905087499037474990374Splice_SiteGAp.S80L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR59

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_1461571674990381:74990508:74993247:74993490:74999670:7499970874993247:74993490ENST00000564859.1LGGrs61262797chr16:74993291C/A2.02e-05
exon_skip_1461571674990381:74990508:74993247:74993490:74999670:7499970874993247:74993490ENST00000564859.1LGGrs77485994chr16:74993426C/T2.23e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR59


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR59


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RelatedDrugs for WDR59

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for WDR59

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource