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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 NOL9

check button Gene summary
Gene informationGene symbol

NOL9

Gene ID

79707

Gene namenucleolar protein 9
SynonymsGrc3|NET6
Cytomap

1p36.31

Type of geneprotein-coding
Descriptionpolynucleotide 5'-hydroxyl-kinase NOL9polynucleotide 5'-kinase
Modification date20180523
UniProtAcc

Q5SY16

ContextPubMed: NOL9 [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 NOL9 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 NOL9

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 NOL9

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2141116581406:6586063:6586755:6586889:6589053:65892316586755:6586889ENSG00000162408.10ENST00000377705.5
exon_skip_2141416586755:6586889:6589053:6589231:6592027:65921396589053:6589231ENSG00000162408.10ENST00000377705.5
exon_skip_2141616593339:6593501:6601889:6601987:6604885:66049796601889:6601987ENSG00000162408.10ENST00000464383.1,ENST00000377705.5
exon_skip_2142916604885:6604982:6605104:6605240:6609630:66097586605104:6605240ENSG00000162408.10ENST00000377705.5
exon_skip_2143216605104:6605240:6609630:6609758:6610455:66105486609630:6609758ENSG00000162408.10ENST00000377705.5

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

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Exon skipping events with PSIs in GTEx for NOL9

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2141116581406:6586063:6586755:6586889:6589053:65892316586755:6586889ENSG00000162408.10ENST00000377705.5
exon_skip_2141416586755:6586889:6589053:6589231:6592027:65921396589053:6589231ENSG00000162408.10ENST00000377705.5
exon_skip_2141616593339:6593501:6601889:6601987:6604885:66049796601889:6601987ENSG00000162408.10ENST00000377705.5,ENST00000464383.1
exon_skip_2142916604885:6604982:6605104:6605240:6609630:66097586605104:6605240ENSG00000162408.10ENST00000377705.5
exon_skip_2143216605104:6605240:6609630:6609758:6610455:66105486609630:6609758ENSG00000162408.10ENST00000377705.5

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 NOL9

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
ENST0000037770565867556586889Frame-shift
ENST0000037770565890536589231Frame-shift
ENST0000037770566018896601987Frame-shift
ENST0000037770566051046605240Frame-shift
ENST0000037770566096306609758Frame-shift

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
ENST0000037770565867556586889Frame-shift
ENST0000037770565890536589231Frame-shift
ENST0000037770566018896601987Frame-shift
ENST0000037770566051046605240Frame-shift
ENST0000037770566096306609758Frame-shift

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Infer the effects of exon skipping event on protein functional features for NOL9

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

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

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


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


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SNVs in the skipped exons for NOL9

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-G3-A3CJ-01exon_skip_21411
6586756658688965868696586869Frame_Shift_DelT-p.M616fs
COADTCGA-G4-6628-01exon_skip_21429
6605105660524066051716605171Frame_Shift_DelT-p.R272fs
LIHCTCGA-DD-A1EG-01exon_skip_21429
6605105660524066051716605171Frame_Shift_DelT-p.R272fs
LIHCTCGA-DD-A39Y-01exon_skip_21429
6605105660524066051716605171Frame_Shift_DelT-p.R272fs
LIHCTCGA-DD-A3A0-01exon_skip_21429
6605105660524066051716605171Frame_Shift_DelT-p.R272fs
LIHCTCGA-G3-A3CJ-01exon_skip_21429
6605105660524066051716605171Frame_Shift_DelT-p.R272fs
STADTCGA-BR-A4QL-01exon_skip_21429
6605105660524066051716605171Frame_Shift_DelT-p.R272fs
LIHCTCGA-DD-A39Y-01exon_skip_21432
6609631660975866096776609677Frame_Shift_DelT-p.N233fs
THCATCGA-EM-A4FU-01exon_skip_21416
6601890660198766019506601950Nonsense_MutationGAp.Q339*
LUADTCGA-69-7765-01exon_skip_21411
6586756658688965867556586755Splice_SiteCAp.Q653_splice

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
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6586756658688965868296586829Frame_Shift_DelG-p.P629fs
RH4_SOFT_TISSUE6589054658923165891146589115Frame_Shift_DelCT-p.G589fs
SKOV3_OVARY6605105660524066051706605171Frame_Shift_Ins-Tp.R272fs
SKMEL31_SKIN6586756658688965868296586829Missense_MutationGAp.P629L
CHL1_SKIN6586756658688965868776586877Missense_MutationCTp.G613D
HMCB_SKIN6586756658688965868776586877Missense_MutationCTp.G613D
TE11_OESOPHAGUS6589054658923165890616589061Missense_MutationCGp.L606F
HS618T_FIBROBLAST6589054658923165890966589096Missense_MutationTCp.I595V
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6589054658923165891726589172Missense_MutationTCp.I569M
JHOS4_OVARY6601890660198766019086601908Missense_MutationTCp.I353V
HEC251_ENDOMETRIUM6601890660198766019196601919Missense_MutationGTp.S349Y
SN12C_KIDNEY6601890660198766019256601925Missense_MutationCAp.C347F
YD38_UPPER_AERODIGESTIVE_TRACT6601890660198766019836601983Missense_MutationGAp.P328S
MM127_SKIN6605105660524066051476605147Missense_MutationTAp.S280C
CW2_LARGE_INTESTINE6605105660524066051616605161Missense_MutationACp.L275R
CHL1_SKIN6605105660524066051626605162Missense_MutationGAp.L275F
HMCB_SKIN6605105660524066051626605162Missense_MutationGAp.L275F
HCT15_LARGE_INTESTINE6605105660524066051946605194Missense_MutationAGp.V264A
DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6609631660975866096506609650Missense_MutationGCp.S242C
NEC8_TESTIS6609631660975866096536609653Missense_MutationGAp.S241L
TE4_OESOPHAGUS6609631660975866097356609735Missense_MutationTCp.N214D
M1203273_SKIN6605105660524066052116605211Nonsense_MutationATp.Y258*
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM6586756658688965867576586757Splice_SiteTGp.Q653P

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOL9

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 NOL9


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NOL9


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RelatedDrugs for NOL9

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 NOL9

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