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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 RPL23

check button Gene summary
Gene informationGene symbol

RPL23

Gene ID

9349

Gene nameribosomal protein L23
SynonymsL23|rpL17
Cytomap

17q12

Type of geneprotein-coding
Description60S ribosomal protein L2360S ribosomal protein L17large ribosomal subunit protein uL14ribosomal protein L17
Modification date20180523
UniProtAcc

P62829

ContextPubMed: RPL23 [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
RPL23

GO:0032986

protein-DNA complex disassembly

19160485

RPL23

GO:1904667

negative regulation of ubiquitin protein ligase activity

15314173

RPL23

GO:2000059

negative regulation of ubiquitin-dependent protein catabolic process

15314173


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Exon skipping events across known transcript of Ensembl for RPL23 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 RPL23

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 RPL23

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2887211737004117:37004292:37006369:37006467:37006614:3700672837006369:37006467ENSG00000125691.8ENST00000394332.1
exon_skip_2887291737006369:37006467:37006614:37006728:37008856:3700886737006614:37006728ENSG00000125691.8ENST00000479035.2,ENST00000245857.5,ENST00000394332.1
exon_skip_2887361737006691:37006728:37008856:37008985:37009274:3700935837008856:37008985ENSG00000125691.8ENST00000577407.1,ENST00000479035.2,ENST00000245857.5,ENST00000394332.1,ENST00000378096.3,ENST00000470646.1
exon_skip_2887431737008856:37008985:37009274:37009358:37009950:3700997537009274:37009358ENSG00000125691.8ENST00000577407.1,ENST00000479035.2,ENST00000394333.1,ENST00000584912.1

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

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Exon skipping events with PSIs in GTEx for RPL23

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2887211737004117:37004292:37006369:37006467:37006614:3700672837006369:37006467ENSG00000125691.8ENST00000394332.1
exon_skip_2887291737006369:37006467:37006614:37006728:37008856:3700886737006614:37006728ENSG00000125691.8ENST00000394332.1,ENST00000479035.2,ENST00000245857.5
exon_skip_2887361737006691:37006728:37008856:37008985:37009274:3700935837008856:37008985ENSG00000125691.8ENST00000394332.1,ENST00000479035.2,ENST00000245857.5,ENST00000577407.1,ENST00000470646.1,ENST00000378096.3
exon_skip_2887431737008856:37008985:37009274:37009358:37009950:3700997537009274:37009358ENSG00000125691.8ENST00000394333.1,ENST00000479035.2,ENST00000584912.1,ENST00000577407.1

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 RPL23

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
ENST0000039433237006369370064675CDS-5UTR
ENST000003943323700661437006728In-frame
ENST000004790353700661437006728In-frame
ENST000003943323700885637008985In-frame
ENST000004790353700885637008985In-frame
ENST000004790353700927437009358In-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
ENST0000039433237006369370064675CDS-5UTR
ENST000003943323700661437006728In-frame
ENST000004790353700661437006728In-frame
ENST000003943323700885637008985In-frame
ENST000004790353700885637008985In-frame
ENST000004790353700927437009358In-frame

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Infer the effects of exon skipping event on protein functional features for RPL23

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
ENST0000047903528381403700927437009358147230432
ENST0000039433264214037008856370089851102383275
ENST00000479035283814037008856370089852313593275
ENST00000394332642140370066143700672823935275113
ENST000004790352838140370066143700672836047375113

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
ENST0000047903528381403700927437009358147230432
ENST0000039433264214037008856370089851102383275
ENST00000479035283814037008856370089852313593275
ENST00000394332642140370066143700672823935275113
ENST000004790352838140370066143700672836047375113

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
P628294321140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P628294321717Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18691976;Dbxref=PMID:18691976
P6282932751140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P6282932751140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P6282932753838Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455
P6282932753838Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455
P62829751131140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P62829751131140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P62829751137777Sequence conflictNote=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P62829751137777Sequence conflictNote=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305


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
P628294321140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P628294321717Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18691976;Dbxref=PMID:18691976
P6282932751140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P6282932751140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P6282932753838Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455
P6282932753838Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15592455;Dbxref=PMID:15592455
P62829751131140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P62829751131140ChainID=PRO_0000128612;Note=60S ribosomal protein L23
P62829751137777Sequence conflictNote=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P62829751137777Sequence conflictNote=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for RPL23

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
LIHCTCGA-DD-A1EG-01exon_skip_288736
37008857370089853700885937008859Frame_Shift_DelT-p.K75fs
LIHCTCGA-G3-A3CJ-01exon_skip_288736
37008857370089853700885937008859Frame_Shift_DelT-p.K75fs
BLCATCGA-BT-A42C-01exon_skip_288736
37008857370089853700887337008892Frame_Shift_DelTGGTTTGCCTTTCTTGACTG-p.T64fs
BLCATCGA-BT-A42C-01exon_skip_288736
37008857370089853700887337008892Frame_Shift_DelTGGTTTGCCTTTCTTGACTG-p.TVKKGKP64fs

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
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37008857370089853700897537008976Frame_Shift_Ins-Tp.N36fs
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37006370370064673700643137006431Missense_MutationGAp.A126V
BT483_BREAST37006615370067283700670137006701Missense_MutationCTp.R85Q
NCIH2110_LUNG37008857370089853700892537008925Missense_MutationGAp.P53L
BHY_UPPER_AERODIGESTIVE_TRACT37009275370093583700928937009289Missense_MutationCAp.C28F
HCC95_LUNG37006615370067283700670837006708Nonsense_MutationGAp.R83*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RPL23

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 RPL23


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RPL23


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RelatedDrugs for RPL23

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 RPL23

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