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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 CNOT6

check button Gene summary
Gene informationGene symbol

CNOT6

Gene ID

57472

Gene nameCCR4-NOT transcription complex subunit 6
SynonymsCCR4|Ccr4a
Cytomap

5q35.3

Type of geneprotein-coding
DescriptionCCR4-NOT transcription complex subunit 6carbon catabolite repression 4 proteincarbon catabolite repressor protein 4 homologcytoplasmic deadenylase
Modification date20180522
UniProtAcc

Q9ULM6

ContextPubMed: CNOT6 [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
CNOT6

GO:0043928

exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay

20065043

CNOT6

GO:2000327

positive regulation of ligand-dependent nuclear receptor transcription coactivator activity

18180299


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Exon skipping events across known transcript of Ensembl for CNOT6 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 CNOT6

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 CNOT6

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4403755179921706:179921763:179922420:179922588:179956274:179956388179922420:179922588ENSG00000113300.7ENST00000393356.1
exon_skip_4403775179921706:179921763:179956274:179956388:179976930:179976995179956274:179956388ENSG00000113300.7ENST00000502447.1,ENST00000261951.4
exon_skip_4403795179956274:179956388:179976930:179977117:179991488:179991578179976930:179977117ENSG00000113300.7ENST00000502447.1
exon_skip_4403825179976930:179977117:179980385:179980471:179991488:179991578179980385:179980471ENSG00000113300.7ENST00000393356.1,ENST00000261951.4
exon_skip_4403875179991674:179991743:179992819:179992977:179994087:179994242179992819:179992977ENSG00000113300.7ENST00000393356.1,ENST00000504343.1,ENST00000261951.4
exon_skip_4403895179994087:179994242:179994848:179995003:179996109:179996340179994848:179995003ENSG00000113300.7ENST00000393356.1,ENST00000261951.4
exon_skip_4403935179996109:179996340:179998229:179998432:180000987:180001269179998229:179998432ENSG00000113300.7ENST00000393356.1,ENST00000261951.4

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

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Exon skipping events with PSIs in GTEx for CNOT6

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4403755179921706:179921763:179922420:179922588:179956274:179956388179922420:179922588ENSG00000113300.7ENST00000393356.1
exon_skip_4403775179921706:179921763:179956274:179956388:179976930:179976995179956274:179956388ENSG00000113300.7ENST00000261951.4,ENST00000502447.1
exon_skip_4403795179956274:179956388:179976930:179977117:179991488:179991578179976930:179977117ENSG00000113300.7ENST00000502447.1
exon_skip_4403825179976930:179977117:179980385:179980471:179991488:179991578179980385:179980471ENSG00000113300.7ENST00000261951.4,ENST00000393356.1
exon_skip_4403875179991674:179991743:179992819:179992977:179994087:179994242179992819:179992977ENSG00000113300.7ENST00000261951.4,ENST00000393356.1,ENST00000504343.1
exon_skip_4403895179994087:179994242:179994848:179995003:179996109:179996340179994848:179995003ENSG00000113300.7ENST00000261951.4,ENST00000393356.1
exon_skip_4403935179996109:179996340:179998229:179998432:180000987:180001269179998229:179998432ENSG00000113300.7ENST00000261951.4,ENST00000393356.1

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 CNOT6

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
ENST000002619511799562741799563885CDS-5UTR
ENST000003933561799224201799225885UTR-5UTR
ENST00000261951179980385179980471Frame-shift
ENST00000393356179980385179980471Frame-shift
ENST00000261951179992819179992977Frame-shift
ENST00000393356179992819179992977Frame-shift
ENST00000261951179994848179995003Frame-shift
ENST00000393356179994848179995003Frame-shift
ENST00000261951179998229179998432Frame-shift
ENST00000393356179998229179998432Frame-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
ENST000002619511799562741799563885CDS-5UTR
ENST000003933561799224201799225885UTR-5UTR
ENST00000261951179980385179980471Frame-shift
ENST00000393356179980385179980471Frame-shift
ENST00000261951179992819179992977Frame-shift
ENST00000393356179992819179992977Frame-shift
ENST00000261951179994848179995003Frame-shift
ENST00000393356179994848179995003Frame-shift
ENST00000261951179998229179998432Frame-shift
ENST00000393356179998229179998432Frame-shift

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Infer the effects of exon skipping event on protein functional features for CNOT6

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 CNOT6

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.
CNOT6_LUAD_exon_skip_440379_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-G3-A3CJ-01exon_skip_440377
179956275179956388179956348179956348Frame_Shift_DelA-p.A24fs
LIHCTCGA-DD-A39Y-01exon_skip_440379
179976931179977117179977071179977071Frame_Shift_DelA-p.K85fs
LIHCTCGA-DD-A39Y-01exon_skip_440382
179980386179980471179980437179980437Frame_Shift_DelA-p.G117fs
STADTCGA-HJ-7597-01exon_skip_440387
179992820179992977179992921179992921Frame_Shift_DelA-p.K221fs
STADTCGA-HJ-7597-01exon_skip_440387
179992820179992977179992921179992921Frame_Shift_DelA-p.R220fs
UCSTCGA-N5-A4RD-01exon_skip_440393
179998230179998432179998267179998268Frame_Shift_DelAA-p.432_432del
UCSTCGA-N5-A4RD-01exon_skip_440393
179998230179998432179998267179998268Frame_Shift_DelAA-p.TN432fs
UCECTCGA-A5-A0GP-01exon_skip_440382
179980386179980471179980414179980414Nonsense_MutationCTp.R110*
UCECTCGA-D1-A17U-01exon_skip_440382
179980386179980471179980414179980414Nonsense_MutationCTp.R110*
LUADTCGA-49-4505-01exon_skip_440379
179976931179977117179976929179976929Splice_SiteAGp.G38_splice
LIHCTCGA-2Y-A9H3-01exon_skip_440382
179980386179980471179980384179980384Splice_SiteAG.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
CNOT6_179956274_179956388_179976930_179977117_179991488_179991578_TCGA-49-4505-01Sample: TCGA-49-4505-01
Cancer type: LUAD
ESID: exon_skip_440379
Skipped exon start: 179976931
Skipped exon end: 179977117
Mutation start: 179976929
Mutation end: 179976929
Mutation type: Splice_Site
Reference seq: A
Mutation seq: G
AAchange: p.G38_splice
exon_skip_440379_LUAD_TCGA-49-4505-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT179976931179977117179977064179977065Frame_Shift_DelAT-p.SS82fs
BICR18_UPPER_AERODIGESTIVE_TRACT179976931179977117179977066179977067Frame_Shift_Ins-CAp.N84fs
COLO792_SKIN179956275179956388179956307179956307Missense_MutationCTp.P11S
CCK81_LARGE_INTESTINE179956275179956388179956331179956331Missense_MutationTGp.S19A
FTC133_THYROID179956275179956388179956385179956385Missense_MutationAGp.S37G
RERFLCAD1_LUNG179976931179977117179976936179976936Missense_MutationGTp.V40L
BICR18_UPPER_AERODIGESTIVE_TRACT179976931179977117179976951179976951Missense_MutationGTp.A45S
A498_KIDNEY179976931179977117179976952179976952Missense_MutationCAp.A45E
SNU1079_BILIARY_TRACT179976931179977117179977047179977047Missense_MutationGAp.V77M
SKMEL24_SKIN179976931179977117179977077179977077Missense_MutationCTp.R87C
IGR1_SKIN179980386179980471179980402179980402Missense_MutationAGp.N106D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179980386179980471179980402179980402Missense_MutationATp.N106Y
BICR18_UPPER_AERODIGESTIVE_TRACT179980386179980471179980402179980402Missense_MutationATp.N106Y
BICR18_UPPER_AERODIGESTIVE_TRACT179980386179980471179980409179980409Missense_MutationTAp.L108Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179980386179980471179980409179980409Missense_MutationTAp.L108Q
BICR18_UPPER_AERODIGESTIVE_TRACT179980386179980471179980462179980462Missense_MutationGAp.G126S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179980386179980471179980462179980462Missense_MutationGAp.G126S
HEC1A_ENDOMETRIUM179992820179992977179992843179992843Missense_MutationAGp.N195D
SNU1040_LARGE_INTESTINE179992820179992977179992894179992894Missense_MutationTGp.S212A
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE179994849179995003179994898179994898Missense_MutationGAp.A308T
HEC265_ENDOMETRIUM179994849179995003179995000179995000Missense_MutationCTp.P342S
SNUC5_LARGE_INTESTINE179998230179998432179998418179998418Missense_MutationAGp.T483A

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNOT6

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 CNOT6


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNOT6


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RelatedDrugs for CNOT6

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 CNOT6

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