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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 WDR74

check button Gene summary
Gene informationGene symbol

WDR74

Gene ID

54663

Gene nameWD repeat domain 74
Synonyms-
Cytomap

11q12.3

Type of geneprotein-coding
DescriptionWD repeat-containing protein 74NOP seven-associated protein 1
Modification date20180523
UniProtAcc

Q6RFH5

ContextPubMed: WDR74 [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 WDR74 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 WDR74

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 WDR74

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_735961162600429:62600603:62601089:62601146:62601263:6260140962601089:62601146ENSG00000133316.11ENST00000529106.1,ENST00000525239.1,ENST00000525752.1,ENST00000544831.1,ENST00000278856.4
exon_skip_736021162601286:62601409:62601747:62601803:62601898:6260199962601747:62601803ENSG00000133316.11ENST00000529106.1,ENST00000525239.1,ENST00000311713.7,ENST00000525752.1,ENST00000544831.1,ENST00000542347.1,ENST00000543688.1,ENST00000278856.4
exon_skip_736051162603233:62603313:62603390:62603508:62606585:6260670762603390:62603508ENSG00000133316.11ENST00000541930.1
exon_skip_736061162603233:62603313:62603432:62603508:62606585:6260670762603432:62603508ENSG00000133316.11ENST00000545112.1,ENST00000529106.1,ENST00000525239.1,ENST00000311713.7,ENST00000540620.1,ENST00000525752.1,ENST00000542347.1,ENST00000453708.2,ENST00000278856.4

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

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Exon skipping events with PSIs in GTEx for WDR74

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_735961162600429:62600603:62601089:62601146:62601263:6260140962601089:62601146ENSG00000133316.11ENST00000529106.1,ENST00000525239.1,ENST00000278856.4,ENST00000525752.1,ENST00000544831.1
exon_skip_736021162601286:62601409:62601747:62601803:62601898:6260199962601747:62601803ENSG00000133316.11ENST00000311713.7,ENST00000529106.1,ENST00000525239.1,ENST00000278856.4,ENST00000525752.1,ENST00000544831.1,ENST00000543688.1,ENST00000542347.1
exon_skip_736051162603233:62603313:62603390:62603508:62606585:6260670762603390:62603508ENSG00000133316.11ENST00000541930.1
exon_skip_736061162603233:62603313:62603432:62603508:62606585:6260670762603432:62603508ENSG00000133316.11ENST00000311713.7,ENST00000529106.1,ENST00000525239.1,ENST00000278856.4,ENST00000525752.1,ENST00000542347.1,ENST00000540620.1,ENST00000545112.1,ENST00000453708.2

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 WDR74

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
ENST000002788566260174762601803Frame-shift
ENST000005252396260174762601803Frame-shift
ENST000005291066260174762601803Frame-shift
ENST000002788566260343262603508Frame-shift
ENST000005252396260343262603508Frame-shift
ENST000005291066260343262603508Frame-shift
ENST000002788566260108962601146In-frame
ENST000005252396260108962601146In-frame
ENST000005291066260108962601146In-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
ENST000002788566260174762601803Frame-shift
ENST000005252396260174762601803Frame-shift
ENST000005291066260174762601803Frame-shift
ENST000002788566260343262603508Frame-shift
ENST000005252396260343262603508Frame-shift
ENST000005291066260343262603508Frame-shift
ENST000002788566260108962601146In-frame
ENST000005252396260108962601146In-frame
ENST000005291066260108962601146In-frame

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Infer the effects of exon skipping event on protein functional features for WDR74

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
ENST000002788561306385626010896260114610131069307326
ENST000005252391753385626010896260114614601516307326
ENST000005291061383385626010896260114610901146307326

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
ENST000002788561306385626010896260114610131069307326
ENST000005252391753385626010896260114614601516307326
ENST000005291061383385626010896260114610901146307326

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
Q6RFH5307326308326Alternative sequenceID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6RFH5307326308326Alternative sequenceID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6RFH5307326308326Alternative sequenceID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6RFH53073261385ChainID=PRO_0000051428;Note=WD repeat-containing protein 74
Q6RFH53073261385ChainID=PRO_0000051428;Note=WD repeat-containing protein 74
Q6RFH53073261385ChainID=PRO_0000051428;Note=WD repeat-containing protein 74
Q6RFH5307326311311Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
Q6RFH5307326311311Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
Q6RFH5307326311311Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
Q6RFH5307326320385RegionNote=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111
Q6RFH5307326320385RegionNote=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111
Q6RFH5307326320385RegionNote=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111


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
Q6RFH5307326308326Alternative sequenceID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6RFH5307326308326Alternative sequenceID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6RFH5307326308326Alternative sequenceID=VSP_011957;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q6RFH53073261385ChainID=PRO_0000051428;Note=WD repeat-containing protein 74
Q6RFH53073261385ChainID=PRO_0000051428;Note=WD repeat-containing protein 74
Q6RFH53073261385ChainID=PRO_0000051428;Note=WD repeat-containing protein 74
Q6RFH5307326311311Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
Q6RFH5307326311311Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
Q6RFH5307326311311Modified residueNote=N6-methyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315
Q6RFH5307326320385RegionNote=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111
Q6RFH5307326320385RegionNote=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111
Q6RFH5307326320385RegionNote=Required for nucleolar and nuclear location;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28416111;Dbxref=PMID:28416111


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SNVs in the skipped exons for WDR74

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BRCATCGA-B6-A0WS-01exon_skip_73605
62603391626035086260345362603453Nonsense_MutationTAp.K117*
BRCATCGA-B6-A0WS-01exon_skip_73606
62603433626035086260345362603453Nonsense_MutationTAp.K117*
KIRCTCGA-B4-5377-01exon_skip_73596
62601090626011466260114762601147Splice_SiteCA.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH2228_LUNG62601090626011466260111962601119Missense_MutationGCp.L317V
SNU423_LIVER62601748626018036260175362601753Missense_MutationCTp.R257Q
LOVO_LARGE_INTESTINE62603391626035086260350662603506Missense_MutationGAp.T99I
LOVO_LARGE_INTESTINE62603433626035086260350662603506Missense_MutationGAp.T99I
MFE296_ENDOMETRIUM62601748626018036260174862601748Splice_SiteCAp.G259W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WDR74

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR74


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WDR74


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RelatedDrugs for WDR74

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 WDR74

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
WDR74C0025202melanoma1CTD_human