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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 NOP14

check button Gene summary
Gene informationGene symbol

NOP14

Gene ID

8602

Gene nameNOP14 nucleolar protein
SynonymsC4orf9|NOL14|RES4-25|RES425|UTP2
Cytomap

4p16.3

Type of geneprotein-coding
Descriptionnucleolar protein 14NOP14 nucleolar protein homologprobable nucleolar complex protein 14
Modification date20180523
UniProtAcc

P78316

ContextPubMed: NOP14 [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 NOP14 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 NOP14

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 NOP14

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42822142941016:2941070:2941253:2941372:2943308:29434432941253:2941372ENSG00000087269.11ENST00000416614.2,ENST00000314262.6
exon_skip_42822242952840:2952972:2954001:2954124:2955237:29553722954001:2954124ENSG00000087269.11ENST00000398071.4,ENST00000416614.2,ENST00000502735.1,ENST00000314262.6

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

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Exon skipping events with PSIs in GTEx for NOP14

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42822142941016:2941070:2941253:2941372:2943308:29434432941253:2941372ENSG00000087269.11ENST00000416614.2,ENST00000314262.6
exon_skip_42822242952840:2952972:2954001:2954124:2955237:29553722954001:2954124ENSG00000087269.11ENST00000416614.2,ENST00000314262.6,ENST00000502735.1,ENST00000398071.4

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 NOP14

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
ENST0000031426229412532941372Frame-shift
ENST0000041661429412532941372Frame-shift
ENST0000031426229540012954124In-frame
ENST0000041661429540012954124In-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
ENST0000031426229412532941372Frame-shift
ENST0000041661429412532941372Frame-shift
ENST0000031426229540012954124In-frame
ENST0000041661429540012954124In-frame

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Infer the effects of exon skipping event on protein functional features for NOP14

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
ENST00000314262290685729540012954124797919249290
ENST00000416614355585729540012954124814936249290

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
ENST00000314262290685729540012954124797919249290
ENST00000416614355585729540012954124814936249290

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
P783162492901857ChainID=PRO_0000137155;Note=Nucleolar protein 14
P783162492901857ChainID=PRO_0000137155;Note=Nucleolar protein 14


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
P783162492901857ChainID=PRO_0000137155;Note=Nucleolar protein 14
P783162492901857ChainID=PRO_0000137155;Note=Nucleolar protein 14


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SNVs in the skipped exons for NOP14

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
BLCATCGA-FJ-A3ZE-01exon_skip_428221
2941254294137229413212941327Frame_Shift_DelGGCAGAG-p.L749fs
BLCATCGA-FJ-A3ZE-01exon_skip_428221
2941254294137229413212941327Frame_Shift_DelGGCAGAG-p.LCR749fs
LIHCTCGA-DD-A39Y-01exon_skip_428221
2941254294137229413392941339Frame_Shift_DelT-p.S745fs
LIHCTCGA-DD-A39Y-01exon_skip_428221
2941254294137229413452941345Frame_Shift_DelT-p.M743fs
BLCATCGA-GC-A3BM-01exon_skip_428222
2954002295412429540052954006Frame_Shift_Ins-Ap.L289fs

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
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE2941254294137229413592941359Missense_MutationCTp.S738N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOP14

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 NOP14


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOP14


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RelatedDrugs for NOP14

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 NOP14

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