ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CNOT1

Gene summary

Gene information	Gene symbol	CNOT1
	Gene ID	23019
	Gene name	CCR4-NOT transcription complex subunit 1
	Synonyms	AD-005\|CDC39\|NOT1\|NOT1H
	Cytomap	16q21
	Type of gene	protein-coding
	Description	CCR4-NOT transcription complex subunit 1CCR4-associated factor 1NOT1 (negative regulator of transcription 1, yeast) homologadrenal gland protein AD-005negative regulator of transcription subunit 1 homolog
	Modification date	20180523
	UniProtAcc	A5YKK6
	Context	PubMed: CNOT1 [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
CNOT1	GO:0000122	negative regulation of transcription by RNA polymerase II	16778766
CNOT1	GO:0010606	positive regulation of cytoplasmic mRNA processing body assembly	21976065
CNOT1	GO:0017148	negative regulation of translation	24736845
CNOT1	GO:0033147	negative regulation of intracellular estrogen receptor signaling pathway	16778766
CNOT1	GO:0035195	gene silencing by miRNA	23172285\|24768540
CNOT1	GO:0048387	negative regulation of retinoic acid receptor signaling pathway	16778766
CNOT1	GO:0060213	positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	23644599

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Exon skipping events across known transcript of Ensembl for CNOT1 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 CNOT1

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 CNOT1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_144888	16	58554918:58554940:58555086:58555221:58557273:58557406	58555086:58555221	ENSG00000125107.12	ENST00000563130.1,ENST00000567188.1,ENST00000569924.1,ENST00000245138.4,ENST00000317147.5,ENST00000569240.1
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENSG00000125107.12	ENST00000567188.1
exon_skip_144898	16	58564149:58564251:58565861:58565979:58566135:58566299	58565861:58565979	ENSG00000125107.12	ENST00000563130.1,ENST00000567188.1,ENST00000245138.4,ENST00000317147.5,ENST00000569240.1
exon_skip_144899	16	58566135:58566299:58568050:58568299:58570892:58571124	58568050:58568299	ENSG00000125107.12	ENST00000567188.1,ENST00000245138.4,ENST00000317147.5,ENST00000569240.1
exon_skip_144901	16	58576134:58576239:58576331:58576472:58577510:58577706	58576331:58576472	ENSG00000125107.12	ENST00000567188.1,ENST00000245138.4,ENST00000317147.5,ENST00000569240.1
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENSG00000125107.12	ENST00000566240.1
exon_skip_144905	16	58581089:58581200:58581469:58581586:58583622:58583748	58581469:58581586	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1
exon_skip_144907	16	58585506:58585723:58587685:58587764:58589154:58589441	58587685:58587764	ENSG00000125107.12	ENST00000567188.1,ENST00000562046.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1
exon_skip_144908	16	58590765:58590897:58592376:58592578:58594115:58594266	58592376:58592578	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1
exon_skip_144911	16	58592376:58592578:58594115:58594266:58608512:58608664	58594115:58594266	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000569882.1,ENST00000317147.5,ENST00000569240.1
exon_skip_144914	16	58608910:58609033:58610366:58610486:58612602:58612839	58610366:58610486	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1
exon_skip_144916	16	58610366:58610486:58612602:58612843:58614536:58614664	58612602:58612843	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1
exon_skip_144918	16	58616696:58616807:58616959:58617086:58619241:58619410	58616959:58617086	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1
exon_skip_144920	16	58616959:58617086:58619241:58619410:58620448:58620652	58619241:58619410	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1
exon_skip_144923	16	58621248:58621317:58621683:58621782:58622702:58622810	58621683:58621782	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1
exon_skip_144926	16	58621741:58621782:58622702:58622810:58633139:58633415	58622702:58622810	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000565605.1,ENST00000317147.5,ENST00000569240.1
exon_skip_144930	16	58622724:58622810:58633139:58633415:58663631:58663719	58633139:58633415	ENSG00000125107.12	ENST00000567188.1,ENST00000441024.2,ENST00000565605.1,ENST00000569240.1
exon_skip_144932	16	58633307:58633415:58657185:58657313:58658556:58658690	58657185:58657313	ENSG00000125107.12	ENST00000568158.1
exon_skip_144937	16	58633307:58633415:58657185:58657313:58663631:58663719	58657185:58657313	ENSG00000125107.12	ENST00000569020.1
exon_skip_144943	16	58633307:58633415:58658576:58658698:58663631:58663719	58658576:58658698	ENSG00000125107.12	ENST00000564557.1
exon_skip_144949	16	58657185:58657313:58658556:58658698:58663631:58663719	58658556:58658698	ENSG00000125107.12	ENST00000568158.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CNOT1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_144888	16	58554918:58554940:58555086:58555221:58557273:58557406	58555086:58555221	ENSG00000125107.12	ENST00000317147.5,ENST00000563130.1,ENST00000245138.4,ENST00000569240.1,ENST00000567188.1,ENST00000569924.1
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENSG00000125107.12	ENST00000567188.1
exon_skip_144898	16	58564149:58564251:58565861:58565979:58566135:58566299	58565861:58565979	ENSG00000125107.12	ENST00000317147.5,ENST00000563130.1,ENST00000245138.4,ENST00000569240.1,ENST00000567188.1
exon_skip_144899	16	58566135:58566299:58568050:58568299:58570892:58571124	58568050:58568299	ENSG00000125107.12	ENST00000317147.5,ENST00000245138.4,ENST00000569240.1,ENST00000567188.1
exon_skip_144901	16	58576134:58576239:58576331:58576472:58577510:58577706	58576331:58576472	ENSG00000125107.12	ENST00000317147.5,ENST00000245138.4,ENST00000569240.1,ENST00000567188.1
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENSG00000125107.12	ENST00000566240.1
exon_skip_144905	16	58581089:58581200:58581469:58581586:58583622:58583748	58581469:58581586	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2
exon_skip_144907	16	58585506:58585723:58587685:58587764:58589154:58589441	58587685:58587764	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2,ENST00000562046.1
exon_skip_144908	16	58590765:58590897:58592376:58592578:58594115:58594266	58592376:58592578	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2
exon_skip_144911	16	58592376:58592578:58594115:58594266:58608512:58608664	58594115:58594266	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2,ENST00000569882.1
exon_skip_144914	16	58608910:58609033:58610366:58610486:58612602:58612839	58610366:58610486	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2
exon_skip_144916	16	58610366:58610486:58612602:58612843:58614536:58614664	58612602:58612843	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2
exon_skip_144918	16	58616696:58616807:58616959:58617086:58619241:58619410	58616959:58617086	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2
exon_skip_144920	16	58616959:58617086:58619241:58619410:58620448:58620652	58619241:58619410	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2
exon_skip_144923	16	58621248:58621317:58621683:58621782:58622702:58622810	58621683:58621782	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2
exon_skip_144926	16	58621741:58621782:58622702:58622810:58633139:58633415	58622702:58622810	ENSG00000125107.12	ENST00000317147.5,ENST00000569240.1,ENST00000567188.1,ENST00000441024.2,ENST00000565605.1
exon_skip_144930	16	58622724:58622810:58633139:58633415:58663631:58663719	58633139:58633415	ENSG00000125107.12	ENST00000569240.1,ENST00000567188.1,ENST00000441024.2,ENST00000565605.1
exon_skip_144932	16	58633307:58633415:58657185:58657313:58658556:58658690	58657185:58657313	ENSG00000125107.12	ENST00000568158.1
exon_skip_144937	16	58633307:58633415:58657185:58657313:58663631:58663719	58657185:58657313	ENSG00000125107.12	ENST00000569020.1
exon_skip_144943	16	58633307:58633415:58658576:58658698:58663631:58663719	58658576:58658698	ENSG00000125107.12	ENST00000564557.1
exon_skip_144949	16	58657185:58657313:58658556:58658698:58663631:58663719	58658556:58658698	ENSG00000125107.12	ENST00000568158.1

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 CNOT1

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
ENST00000317147	58565861	58565979	Frame-shift
ENST00000317147	58587685	58587764	Frame-shift
ENST00000317147	58592376	58592578	Frame-shift
ENST00000317147	58594115	58594266	Frame-shift
ENST00000317147	58612602	58612843	Frame-shift
ENST00000317147	58616959	58617086	Frame-shift
ENST00000317147	58619241	58619410	Frame-shift
ENST00000317147	58555086	58555221	In-frame
ENST00000317147	58568050	58568299	In-frame
ENST00000317147	58576331	58576472	In-frame
ENST00000317147	58581469	58581586	In-frame
ENST00000317147	58610366	58610486	In-frame
ENST00000317147	58621683	58621782	In-frame
ENST00000317147	58622702	58622810	In-frame

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
ENST00000317147	58565861	58565979	Frame-shift
ENST00000317147	58587685	58587764	Frame-shift
ENST00000317147	58592376	58592578	Frame-shift
ENST00000317147	58594115	58594266	Frame-shift
ENST00000317147	58612602	58612843	Frame-shift
ENST00000317147	58616959	58617086	Frame-shift
ENST00000317147	58619241	58619410	Frame-shift
ENST00000317147	58555086	58555221	In-frame
ENST00000317147	58568050	58568299	In-frame
ENST00000317147	58576331	58576472	In-frame
ENST00000317147	58581469	58581586	In-frame
ENST00000317147	58610366	58610486	In-frame
ENST00000317147	58621683	58621782	In-frame
ENST00000317147	58622702	58622810	In-frame

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Infer the effects of exon skipping event on protein functional features for CNOT1

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
ENST00000317147	8488	2376	58622702	58622810	436	543	34	70
ENST00000317147	8488	2376	58621683	58621782	544	642	70	103
ENST00000317147	8488	2376	58610366	58610486	1918	2037	528	568
ENST00000317147	8488	2376	58581469	58581586	3856	3972	1174	1213
ENST00000317147	8488	2376	58576331	58576472	4768	4908	1478	1525
ENST00000317147	8488	2376	58568050	58568299	5980	6228	1882	1965
ENST00000317147	8488	2376	58555086	58555221	7251	7385	2306	2350

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
ENST00000317147	8488	2376	58622702	58622810	436	543	34	70
ENST00000317147	8488	2376	58621683	58621782	544	642	70	103
ENST00000317147	8488	2376	58610366	58610486	1918	2037	528	568
ENST00000317147	8488	2376	58581469	58581586	3856	3972	1174	1213
ENST00000317147	8488	2376	58576331	58576472	4768	4908	1478	1525
ENST00000317147	8488	2376	58568050	58568299	5980	6228	1882	1965
ENST00000317147	8488	2376	58555086	58555221	7251	7385	2306	2350

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 CNOT1

- 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.

- 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
KIRC	TCGA-CZ-5451-01	exon_skip_144888	58555087	58555221	58555162	58555168	Frame_Shift_Del	AAGGTAA	-	p.2324_2326del
LIHC	TCGA-DD-A3A0-01	exon_skip_144888	58555087	58555221	58555162	58555162	Frame_Shift_Del	A	-	p.F2326fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_144899	58568051	58568299	58568156	58568156	Frame_Shift_Del	G	-	p.A1930fs
LIHC	TCGA-DD-A3A1-01	exon_skip_144901	58576332	58576472	58576365	58576365	Frame_Shift_Del	T	-	p.K1514fs
LIHC	TCGA-DD-A39Y-01	exon_skip_144908	58592377	58592578	58592447	58592447	Frame_Shift_Del	A	-	p.F754fs
LIHC	TCGA-DD-A3A0-01	exon_skip_144908	58592377	58592578	58592453	58592453	Frame_Shift_Del	T	-	p.K752fs
LIHC	TCGA-DD-A3A0-01	exon_skip_144908	58592377	58592578	58592469	58592469	Frame_Shift_Del	G	-	p.P747fs
KIRP	TCGA-IZ-A6M9-01	exon_skip_144908	58592377	58592578	58592566	58592570	Frame_Shift_Del	CAAGA	-	p.714_715del
KIRP	TCGA-IZ-A6M9-01	exon_skip_144908	58592377	58592578	58592566	58592570	Frame_Shift_Del	CAAGA	-	p.P713fs
LIHC	TCGA-DD-A1EG-01	exon_skip_144920	58619242	58619410	58619249	58619249	Frame_Shift_Del	A	-	p.C267fs
LIHC	TCGA-DD-A39Y-01	exon_skip_144920	58619242	58619410	58619249	58619249	Frame_Shift_Del	A	-	p.C267fs
LIHC	TCGA-DD-A1EG-01	exon_skip_144920	58619242	58619410	58619303	58619303	Frame_Shift_Del	T	-	p.T249fs
BLCA	TCGA-DK-A1AE-01	exon_skip_144920	58619242	58619410	58619315	58619316	Frame_Shift_Del	CT	-	p.G244fs
BLCA	TCGA-DK-A1AE-01	exon_skip_144920	58619242	58619410	58619315	58619316	Frame_Shift_Del	CT	-	p.GG244fs
LUSC	TCGA-66-2756-01	exon_skip_144926	58622703	58622810	58622794	58622794	Frame_Shift_Del	C	-	p.G40fs
LUAD	TCGA-55-8511-01	exon_skip_144911	58594116	58594266	58594169	58594170	Frame_Shift_Ins	-	C	p.IK692fs
LIHC	TCGA-DD-A1EK-01	exon_skip_144930	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
THCA	TCGA-DO-A1JZ-01	exon_skip_144930	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
UCEC	TCGA-D1-A168-01	exon_skip_144930	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
KIRP	TCGA-B1-5398-01	exon_skip_144930	58633140	58633415	58633189	58633190	Frame_Shift_Ins	-	CCAC	p.D18fs
KIRP	TCGA-B1-5398-01	exon_skip_144930	58633140	58633415	58633189	58633190	Frame_Shift_Ins	-	CCAC	p.Q18fs
SKCM	TCGA-W3-AA1W-06	exon_skip_144914	58610367	58610486	58610411	58610411	Nonsense_Mutation	G	A	p.Q554*
BLCA	TCGA-G2-A2ES-01	exon_skip_144923	58621684	58621782	58621689	58621689	Nonsense_Mutation	G	A	p.Q102*
LUAD	TCGA-62-8399-01	exon_skip_144923	58621684	58621782	58621689	58621689	Nonsense_Mutation	G	A	p.Q102*
BLCA	TCGA-FD-A3SN-01	exon_skip_144923	58621684	58621782	58621779	58621779	Nonsense_Mutation	G	A	p.Q72*
BLCA	TCGA-GV-A6ZA-01	exon_skip_144923	58621684	58621782	58621779	58621779	Nonsense_Mutation	G	A	p.Q72*
PRAD	TCGA-VP-A87B-01	exon_skip_144930	58633140	58633415	58633154	58633154	Nonsense_Mutation	G	A	p.Q30*

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- 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
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58594116	58594266	58594163	58594164	Frame_Shift_Ins	-	T	p.G695fs
HCC44_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
HCC70_BREAST	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIH1573_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIH1581_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIH1993_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIH2126_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIH226_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIH23_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIH2405_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIH460_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIH82_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
NCIN87_STOMACH	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
PA1_OVARY	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
PC3JPC3_LUNG	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
SKMEL24_SKIN	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
SKMEL3_SKIN	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
SNU449_LIVER	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
SNU5_STOMACH	58633140	58633415	58633164	58633165	Frame_Shift_Ins	-	C	p.R26fs
KON_UPPER_AERODIGESTIVE_TRACT	58568051	58568299	58568083	58568083	Missense_Mutation	T	G	p.N1955H
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58568051	58568299	58568211	58568211	Missense_Mutation	C	T	p.R1912H
MFE319_ENDOMETRIUM	58576332	58576472	58576399	58576399	Missense_Mutation	G	A	p.A1503V
HCT15_LARGE_INTESTINE	58587686	58587764	58587707	58587707	Missense_Mutation	T	G	p.Q983H
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58592377	58592578	58592526	58592526	Missense_Mutation	G	A	p.P728L
BICR18_UPPER_AERODIGESTIVE_TRACT	58592377	58592578	58592557	58592557	Missense_Mutation	T	C	p.T718A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58592377	58592578	58592557	58592557	Missense_Mutation	T	C	p.T718A
MHHCALL3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58592377	58592578	58592566	58592566	Missense_Mutation	C	T	p.A715T
NUGC4_STOMACH	58594116	58594266	58594139	58594139	Missense_Mutation	A	T	p.L703I
CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58594116	58594266	58594207	58594207	Missense_Mutation	A	G	p.V680A
HT115_LARGE_INTESTINE	58610367	58610486	58610395	58610395	Missense_Mutation	C	T	p.R559Q
SNUC2A_LARGE_INTESTINE	58610367	58610486	58610467	58610467	Missense_Mutation	C	T	p.R535H
SNUC2B_LARGE_INTESTINE	58610367	58610486	58610467	58610467	Missense_Mutation	C	T	p.R535H
MEWO_SKIN	58610367	58610486	58610468	58610468	Missense_Mutation	G	A	p.R535C
RL952_ENDOMETRIUM	58610367	58610486	58610477	58610477	Missense_Mutation	G	A	p.P532S
JHUEM7_ENDOMETRIUM	58612603	58612843	58612610	58612610	Missense_Mutation	T	C	p.H526R
SNU1_STOMACH	58612603	58612843	58612691	58612691	Missense_Mutation	C	T	p.R499H
SNU1040_LARGE_INTESTINE	58612603	58612843	58612691	58612691	Missense_Mutation	C	T	p.R499H
HCC1569_BREAST	58612603	58612843	58612715	58612715	Missense_Mutation	A	G	p.I491T
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58612603	58612843	58612830	58612830	Missense_Mutation	A	T	p.L453M
COLO800_SKIN	58616960	58617086	58616982	58616982	Missense_Mutation	A	G	p.L304S
BICR18_UPPER_AERODIGESTIVE_TRACT	58616960	58617086	58617061	58617061	Missense_Mutation	C	T	p.V278M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58616960	58617086	58617061	58617061	Missense_Mutation	C	T	p.V278M
NCIH2342_LUNG	58619242	58619410	58619354	58619354	Missense_Mutation	G	A	p.R232W
SNU407_LARGE_INTESTINE	58619242	58619410	58619360	58619360	Missense_Mutation	C	T	p.E230K
HEC265_ENDOMETRIUM	58619242	58619410	58619395	58619395	Missense_Mutation	C	T	p.R218H
MCC13_SKIN	58621684	58621782	58621701	58621701	Missense_Mutation	G	A	p.P98S
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58622703	58622810	58622710	58622710	Missense_Mutation	A	G	p.F68S
HEC59_ENDOMETRIUM	58622703	58622810	58622749	58622749	Missense_Mutation	A	G	p.V55A
MM426_SKIN	58622703	58622810	58622755	58622755	Missense_Mutation	G	A	p.S53L
HCT15_LARGE_INTESTINE	58622703	58622810	58622773	58622773	Missense_Mutation	A	G	p.L47S
NCIH2286_LUNG	58633140	58633415	58633159	58633159	Missense_Mutation	C	G	p.S28T
A427_LUNG	58633140	58633415	58633210	58633210	Missense_Mutation	G	A	p.S11F
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	58633140	58633415	58633228	58633228	Missense_Mutation	G	A	p.S5L
JHUEM7_ENDOMETRIUM	58568051	58568299	58568125	58568125	Nonsense_Mutation	G	A	p.R1941*
HEC6_ENDOMETRIUM	58565862	58565979	58565979	58565979	Splice_Site	G	A	p.C2020C
NCIH661_LUNG	58581470	58581586	58581586	58581586	Splice_Site	C	T	p.V1175M

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNOT1

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
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	CESC	rs28307	chr16:58577138	A/C	6.52e-06
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	CESC	rs28307	chr16:58577138	A/C	6.54e-06
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	COAD	rs28307	chr16:58577138	A/C	3.76e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	COAD	rs28307	chr16:58577138	A/C	3.76e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	BLCA	rs28307	chr16:58577138	A/C	6.83e-06
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	BLCA	rs28307	chr16:58577138	A/C	6.85e-06
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	HNSC	rs28307	chr16:58577138	A/C	1.44e-11
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	HNSC	rs28307	chr16:58577138	A/C	1.44e-11
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	BRCA	rs28307	chr16:58577138	A/C	5.27e-06
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	BRCA	rs28307	chr16:58577138	A/C	5.28e-06
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	BRCA	rs28307	chr16:58577138	A/C	4.62e-03
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LGG	rs28307	chr16:58577138	A/C	3.80e-07
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LGG	rs28307	chr16:58577138	A/C	3.81e-07
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LGG	rs28307	chr16:58577138	A/C	4.40e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	KIRC	rs28307	chr16:58577138	A/C	1.20e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	KIRC	rs28307	chr16:58577138	A/C	1.20e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LUAD	rs28307	chr16:58577138	A/C	4.64e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LUAD	rs28307	chr16:58577138	A/C	6.09e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LUAD	rs28307	chr16:58577138	A/C	6.10e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LIHC	rs28307	chr16:58577138	A/C	1.43e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LIHC	rs28307	chr16:58577138	A/C	1.43e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LUSC	rs28307	chr16:58577138	A/C	5.21e-05
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LUSC	rs28307	chr16:58577138	A/C	5.21e-05
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	LUSC	rs28307	chr16:58577138	A/C	1.17e-03
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	PAAD	rs28307	chr16:58577138	A/C	2.22e-06
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	PAAD	rs28307	chr16:58577138	A/C	2.22e-06
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	PRAD	rs28307	chr16:58577138	A/C	4.16e-05
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	PRAD	rs28307	chr16:58577138	A/C	4.22e-05
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	SARC	rs28307	chr16:58577138	A/C	7.58e-04
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	THYM	rs28307	chr16:58577138	A/C	5.39e-05
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	THYM	rs28307	chr16:58577138	A/C	5.39e-05
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	THCA	rs28307	chr16:58577138	A/C	1.96e-10
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	THCA	rs28307	chr16:58577138	A/C	1.96e-10
exon_skip_144903	16	58576331:58576472:58577072:58577196:58577510:58577706	58577072:58577196	ENST00000566240.1	THCA	rs28307	chr16:58577138	A/C	1.12e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	CESC	rs37057	chr16:58561954	T/C	2.27e-06
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	CESC	rs37057	chr16:58561954	T/C	2.27e-06
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	COAD	rs37057	chr16:58561954	T/C	4.55e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	COAD	rs37057	chr16:58561954	T/C	4.55e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	BLCA	rs37057	chr16:58561954	T/C	1.01e-05
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	BLCA	rs37057	chr16:58561954	T/C	1.02e-05
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	HNSC	rs37057	chr16:58561954	T/C	1.76e-11
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	HNSC	rs37057	chr16:58561954	T/C	1.76e-11
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	BRCA	rs37057	chr16:58561954	T/C	2.14e-06
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	BRCA	rs37057	chr16:58561954	T/C	2.14e-06
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LGG	rs37057	chr16:58561954	T/C	2.59e-07
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LGG	rs37057	chr16:58561954	T/C	2.60e-07
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LGG	rs37057	chr16:58561954	T/C	2.18e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	KIRC	rs37057	chr16:58561954	T/C	1.96e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	KIRC	rs37057	chr16:58561954	T/C	1.96e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LUAD	rs37057	chr16:58561954	T/C	3.52e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LUAD	rs37057	chr16:58561954	T/C	1.50e-03
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LUAD	rs37057	chr16:58561954	T/C	1.50e-03
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LIHC	rs37057	chr16:58561954	T/C	2.22e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LIHC	rs37057	chr16:58561954	T/C	2.22e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LUSC	rs37057	chr16:58561954	T/C	1.01e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LUSC	rs37057	chr16:58561954	T/C	1.01e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	LUSC	rs37057	chr16:58561954	T/C	7.87e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	PAAD	rs37057	chr16:58561954	T/C	5.45e-07
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	PAAD	rs37057	chr16:58561954	T/C	5.46e-07
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	PRAD	rs37057	chr16:58561954	T/C	2.23e-05
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	PRAD	rs37057	chr16:58561954	T/C	2.26e-05
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	PRAD	rs35432891	chr16:58561966	G/A	4.82e-04
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	THYM	rs37057	chr16:58561954	T/C	5.93e-05
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	THYM	rs37057	chr16:58561954	T/C	5.93e-05
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	THCA	rs37057	chr16:58561954	T/C	1.74e-10
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	THCA	rs37057	chr16:58561954	T/C	1.74e-10
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	THCA	rs37057	chr16:58561954	T/C	7.05e-05
exon_skip_144893	16	58559892:58560042:58561826:58562009:58562378:58562509	58561826:58562009	ENST00000567188.1	THCA	rs35432891	chr16:58561966	G/A	1.36e-03
exon_skip_144918	16	58616696:58616807:58616959:58617086:58619241:58619410	58616959:58617086	ENST00000567188.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1	THCA	rs17854029	chr16:58616984	T/C	2.15e-06
exon_skip_144918	16	58616696:58616807:58616959:58617086:58619241:58619410	58616959:58617086	ENST00000567188.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1	THCA	rs17854029	chr16:58616984	T/C	2.15e-06
exon_skip_144907	16	58585506:58585723:58587685:58587764:58589154:58589441	58587685:58587764	ENST00000567188.1,ENST00000562046.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1	HNSC	rs11866002	chr16:58587737	C/T	1.43e-03
exon_skip_144907	16	58585506:58585723:58587685:58587764:58589154:58589441	58587685:58587764	ENST00000567188.1,ENST00000562046.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1	HNSC	rs11866002	chr16:58587737	C/T	1.43e-03
exon_skip_144907	16	58585506:58585723:58587685:58587764:58589154:58589441	58587685:58587764	ENST00000567188.1,ENST00000562046.1,ENST00000441024.2,ENST00000317147.5,ENST00000569240.1	KIRP	rs11866002	chr16:58587737	C/T	2.15e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNOT1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNOT1

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RelatedDrugs for CNOT1

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 CNOT1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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