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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for CNOT3 |
Gene summary |
Gene information | Gene symbol | CNOT3 | Gene ID | 4849 |
Gene name | CCR4-NOT transcription complex subunit 3 | |
Synonyms | LENG2|NOT3|NOT3H | |
Cytomap | 19q13.42 | |
Type of gene | protein-coding | |
Description | CCR4-NOT transcription complex subunit 3CCR4-associated factor 3NOT3 (negative regulator of transcription 3, yeast) homologleukocyte receptor cluster member 2 | |
Modification date | 20180523 | |
UniProtAcc | O75175 | |
Context | PubMed: CNOT3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for CNOT3 from UCSC genome browser |
Skipped 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. |
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Gene isoform structures and expression levels for CNOT3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CNOT3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_311288 | 19 | 54647472:54647485:54647741:54647870:54647972:54648068 | 54647741:54647870 | ENSG00000088038.13 | ENST00000440571.1,ENST00000406403.1,ENST00000447684.1,ENST00000358389.3,ENST00000221232.5 |
exon_skip_311289 | 19 | 54650336:54650393:54651882:54652270:54652354:54652432 | 54651882:54652270 | ENSG00000088038.13 | ENST00000482247.1,ENST00000440571.1,ENST00000406403.1,ENST00000447684.1,ENST00000358389.3,ENST00000221232.5 |
exon_skip_311293 | 19 | 54655962:54656062:54656164:54656363:54656603:54656736 | 54656164:54656363 | ENSG00000088038.13 | ENST00000482247.1,ENST00000457463.1,ENST00000406403.1,ENST00000447684.1,ENST00000358389.3,ENST00000496327.1,ENST00000221232.5 |
exon_skip_311294 | 19 | 54656603:54656736:54656917:54657130:54657233:54657242 | 54656917:54657130 | ENSG00000088038.13 | ENST00000447684.1,ENST00000358389.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CNOT3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_311288 | 19 | 54647472:54647485:54647741:54647870:54647972:54648068 | 54647741:54647870 | ENSG00000088038.13 | ENST00000221232.5,ENST00000358389.3,ENST00000406403.1,ENST00000440571.1,ENST00000447684.1 |
exon_skip_311289 | 19 | 54650336:54650393:54651882:54652270:54652354:54652432 | 54651882:54652270 | ENSG00000088038.13 | ENST00000221232.5,ENST00000358389.3,ENST00000482247.1,ENST00000406403.1,ENST00000440571.1,ENST00000447684.1 |
exon_skip_311293 | 19 | 54655962:54656062:54656164:54656363:54656603:54656736 | 54656164:54656363 | ENSG00000088038.13 | ENST00000221232.5,ENST00000358389.3,ENST00000482247.1,ENST00000406403.1,ENST00000447684.1,ENST00000457463.1,ENST00000496327.1 |
exon_skip_311294 | 19 | 54656603:54656736:54656917:54657130:54657233:54657242 | 54656917:54657130 | ENSG00000088038.13 | ENST00000358389.3,ENST00000447684.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CNOT3 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for CNOT3 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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 feature | Description of feature |
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 feature | Description of feature |
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SNVs in the skipped exons for CNOT3 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
CNOT3_KIRC_exon_skip_311289_psi_boxplot.png |
CNOT3_LIHC_exon_skip_311289_psi_boxplot.png |
CNOT3_LUSC_exon_skip_311293_psi_boxplot.png |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-DD-A39Y-01 | exon_skip_311288 | 54647742 | 54647870 | 54647778 | 54647778 | Frame_Shift_Del | A | - | p.K99fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_311288 | 54647742 | 54647870 | 54647778 | 54647778 | Frame_Shift_Del | A | - | p.T98fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_311289 | 54651883 | 54652270 | 54651966 | 54651966 | Frame_Shift_Del | C | - | p.G326fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_311289 | 54651883 | 54652270 | 54651966 | 54651966 | Frame_Shift_Del | C | - | p.G326fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_311289 | 54651883 | 54652270 | 54651966 | 54651966 | Frame_Shift_Del | C | - | p.G326fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_311289 | 54651883 | 54652270 | 54652022 | 54652022 | Frame_Shift_Del | C | - | p.A345fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_311289 | 54651883 | 54652270 | 54652033 | 54652033 | Frame_Shift_Del | C | - | p.P350fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_311289 | 54651883 | 54652270 | 54652243 | 54652243 | Frame_Shift_Del | G | - | p.G419fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_311294 | 54656918 | 54657130 | 54657101 | 54657101 | Frame_Shift_Del | G | - | p.G560fs |
KIRC | TCGA-B0-5098-01 | exon_skip_311289 | 54651883 | 54652270 | 54651965 | 54651966 | Frame_Shift_Ins | - | C | p.A326fs |
LIHC | TCGA-BC-A112-01 | exon_skip_311294 | 54656918 | 54657130 | 54657125 | 54657126 | Frame_Shift_Ins | - | C | p.P568fs |
LUSC | TCGA-22-1016-01 | exon_skip_311293 | 54656165 | 54656363 | 54656311 | 54656311 | Nonsense_Mutation | G | T | p.E618* |
- Depth of coverage in the three exons composing exon skipping event |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
MCC26_SKIN | 54647742 | 54647870 | 54647841 | 54647841 | Missense_Mutation | G | A | p.E120K |
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54647742 | 54647870 | 54647868 | 54647868 | Missense_Mutation | A | G | p.T129A |
LNCAPCLONEFGC_PROSTATE | 54651883 | 54652270 | 54651965 | 54651965 | Missense_Mutation | G | C | p.G326A |
SNUC2A_LARGE_INTESTINE | 54651883 | 54652270 | 54652021 | 54652021 | Missense_Mutation | G | A | p.A345T |
HT115_LARGE_INTESTINE | 54651883 | 54652270 | 54652021 | 54652021 | Missense_Mutation | G | A | p.A345T |
SNUC2B_LARGE_INTESTINE | 54651883 | 54652270 | 54652021 | 54652021 | Missense_Mutation | G | A | p.A345T |
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54651883 | 54652270 | 54652043 | 54652043 | Missense_Mutation | C | T | p.A352V |
SNUC2A_LARGE_INTESTINE | 54651883 | 54652270 | 54652082 | 54652082 | Missense_Mutation | C | T | p.S365L |
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54651883 | 54652270 | 54652136 | 54652136 | Missense_Mutation | C | T | p.P383L |
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54651883 | 54652270 | 54652195 | 54652195 | Missense_Mutation | A | G | p.S403G |
YAMATO_SOFT_TISSUE | 54651883 | 54652270 | 54652195 | 54652195 | Missense_Mutation | A | G | p.S403G |
SNGM_ENDOMETRIUM | 54651883 | 54652270 | 54652195 | 54652195 | Missense_Mutation | A | G | p.S403G |
8305C_THYROID | 54651883 | 54652270 | 54652195 | 54652195 | Missense_Mutation | A | G | p.S403G |
KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54651883 | 54652270 | 54652195 | 54652195 | Missense_Mutation | A | G | p.S403G |
SUM149PT_BREAST | 54656165 | 54656363 | 54656195 | 54656195 | Missense_Mutation | C | T | p.P579L |
KM12_LARGE_INTESTINE | 54656165 | 54656363 | 54656267 | 54656267 | Missense_Mutation | G | A | p.G603D |
BB49HNC_UPPER_AERODIGESTIVE_TRACT | 54656165 | 54656363 | 54656357 | 54656357 | Missense_Mutation | G | A | p.R633H |
BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54656165 | 54656363 | 54656302 | 54656302 | Nonsense_Mutation | C | T | p.Q615* |
PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54656165 | 54656363 | 54656302 | 54656302 | Nonsense_Mutation | C | T | p.Q615* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNOT3 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNOT3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNOT3 |
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RelatedDrugs for CNOT3 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CNOT3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
CNOT3 | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |