ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for CNOT2

Gene summary

Gene information	Gene symbol	CNOT2
	Gene ID	4848
	Gene name	CCR4-NOT transcription complex subunit 2
	Synonyms	CDC36\|HSPC131\|NOT2\|NOT2H
	Cytomap	12q15
	Type of gene	protein-coding
	Description	CCR4-NOT transcription complex subunit 2CCR4-associated factor 2negative regulator of transcription 2
	Modification date	20180523
	UniProtAcc	Q9NZN8
	Context	PubMed: CNOT2 [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
CNOT2	GO:0000122	negative regulation of transcription by RNA polymerase II	14707134\|16712523

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Exon skipping events across known transcript of Ensembl for CNOT2 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 CNOT2

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 CNOT2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_85394	12	70637228:70637260:70671911:70672054:70704674:70704703	70671911:70672054	ENSG00000111596.7	ENST00000418359.3,ENST00000550160.1,ENST00000547321.1,ENST00000548021.1,ENST00000547780.1,ENST00000549443.1,ENST00000552915.1,ENST00000229195.3
exon_skip_85412	12	70671911:70672054:70679179:70679366:70687850:70687903	70679179:70679366	ENSG00000111596.7	ENST00000553078.1
exon_skip_85413	12	70671911:70672054:70679179:70679366:70688016:70688074	70679179:70679366	ENSG00000111596.7	ENST00000547867.1
exon_skip_85415	12	70671911:70672054:70679179:70679366:70704674:70704703	70679179:70679366	ENSG00000111596.7	ENST00000550641.1
exon_skip_85416	12	70671911:70672054:70684506:70684583:70687850:70687903	70684506:70684583	ENSG00000111596.7	ENST00000552483.1
exon_skip_85420	12	70671911:70672054:70687850:70688074:70695484:70695610	70687850:70688074	ENSG00000111596.7	ENST00000548741.1
exon_skip_85422	12	70671911:70672054:70687850:70688074:70704674:70704703	70687850:70688074	ENSG00000111596.7	ENST00000553020.1,ENST00000548159.1
exon_skip_85423	12	70671911:70672054:70688016:70688074:70691538:70691659	70688016:70688074	ENSG00000111596.7	ENST00000551661.1
exon_skip_85425	12	70671911:70672054:70688016:70688074:70701477:70701681	70688016:70688074	ENSG00000111596.7	ENST00000552422.1
exon_skip_85426	12	70671911:70672054:70688016:70688074:70704674:70704703	70688016:70688074	ENSG00000111596.7	ENST00000552319.1
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENSG00000111596.7	ENST00000551132.1
exon_skip_85433	12	70671911:70672054:70704674:70704797:70713077:70713102	70704674:70704797	ENSG00000111596.7	ENST00000549750.1,ENST00000418359.3,ENST00000550160.1,ENST00000547321.1,ENST00000550194.1,ENST00000551043.1,ENST00000548021.1,ENST00000552231.1,ENST00000552915.1,ENST00000229195.3
exon_skip_85434	12	70671911:70672054:70704674:70704797:70729217:70729244	70704674:70704797	ENSG00000111596.7	ENST00000548599.1
exon_skip_85442	12	70679179:70679366:70688016:70688074:70704674:70704703	70688016:70688074	ENSG00000111596.7	ENST00000547867.1
exon_skip_85447	12	70688016:70688074:70691538:70691659:70704674:70704703	70691538:70691659	ENSG00000111596.7	ENST00000551661.1
exon_skip_85456	12	70704742:70704797:70713077:70713144:70723202:70723269	70713077:70713144	ENSG00000111596.7	ENST00000552151.1,ENST00000549750.1,ENST00000552319.1,ENST00000418359.3,ENST00000547321.1,ENST00000550194.1,ENST00000550641.1,ENST00000551043.1,ENST00000551132.1,ENST00000552231.1,ENST00000552915.1,ENST00000229195.3,ENST00000548159.1
exon_skip_85458	12	70704742:70704797:70713077:70713144:70729217:70729244	70713077:70713144	ENSG00000111596.7	ENST00000552483.1,ENST00000550160.1,ENST00000548021.1
exon_skip_85462	12	70704742:70704797:70726546:70726626:70729217:70729244	70726546:70726626	ENSG00000111596.7	ENST00000549443.1
exon_skip_85464	12	70713077:70713144:70723202:70723350:70726546:70726586	70723202:70723350	ENSG00000111596.7	ENST00000552915.1
exon_skip_85468	12	70723202:70723350:70724066:70724249:70726546:70726586	70724066:70724249	ENSG00000111596.7	ENST00000548230.1,ENST00000418359.3,ENST00000550641.1,ENST00000551043.1,ENST00000547149.1,ENST00000552231.1,ENST00000551873.1,ENST00000229195.3,ENST00000548159.1
exon_skip_85471	12	70723202:70723350:70726546:70726626:70729217:70729244	70726546:70726626	ENSG00000111596.7	ENST00000552915.1
exon_skip_85472	12	70724066:70724249:70726546:70726626:70729217:70729244	70726546:70726626	ENSG00000111596.7	ENST00000548230.1,ENST00000418359.3,ENST00000551043.1,ENST00000552231.1,ENST00000229195.3,ENST00000548159.1
exon_skip_85473	12	70724066:70724249:70726570:70726626:70729217:70729244	70726570:70726626	ENSG00000111596.7	ENST00000550194.1
exon_skip_85476	12	70731262:70731293:70731535:70731600:70732222:70732285	70731535:70731600	ENSG00000111596.7	ENST00000549947.1
exon_skip_85482	12	70735889:70735948:70736037:70736087:70737890:70738008	70736037:70736087	ENSG00000111596.7	ENST00000549709.1
exon_skip_85483	12	70735889:70735948:70736037:70736087:70737907:70737958	70736037:70736087	ENSG00000111596.7	ENST00000418359.3,ENST00000551483.1,ENST00000551043.1,ENST00000548338.1,ENST00000546673.1,ENST00000551434.1,ENST00000229195.3,ENST00000552599.1,ENST00000548159.1
exon_skip_85485	12	70737907:70738008:70739959:70740104:70747608:70747682	70739959:70740104	ENSG00000111596.7	ENST00000418359.3,ENST00000551483.1,ENST00000551043.1,ENST00000550705.1,ENST00000551434.1,ENST00000549709.1,ENST00000229195.3,ENST00000548159.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for CNOT2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_85394	12	70637228:70637260:70671911:70672054:70704674:70704703	70671911:70672054	ENSG00000111596.7	ENST00000229195.3,ENST00000547780.1,ENST00000418359.3,ENST00000550160.1,ENST00000548021.1,ENST00000552915.1,ENST00000549443.1,ENST00000547321.1
exon_skip_85412	12	70671911:70672054:70679179:70679366:70687850:70687903	70679179:70679366	ENSG00000111596.7	ENST00000553078.1
exon_skip_85413	12	70671911:70672054:70679179:70679366:70688016:70688074	70679179:70679366	ENSG00000111596.7	ENST00000547867.1
exon_skip_85415	12	70671911:70672054:70679179:70679366:70704674:70704703	70679179:70679366	ENSG00000111596.7	ENST00000550641.1
exon_skip_85416	12	70671911:70672054:70684506:70684583:70687850:70687903	70684506:70684583	ENSG00000111596.7	ENST00000552483.1
exon_skip_85420	12	70671911:70672054:70687850:70688074:70695484:70695610	70687850:70688074	ENSG00000111596.7	ENST00000548741.1
exon_skip_85422	12	70671911:70672054:70687850:70688074:70704674:70704703	70687850:70688074	ENSG00000111596.7	ENST00000553020.1,ENST00000548159.1
exon_skip_85423	12	70671911:70672054:70688016:70688074:70691538:70691659	70688016:70688074	ENSG00000111596.7	ENST00000551661.1
exon_skip_85425	12	70671911:70672054:70688016:70688074:70701477:70701681	70688016:70688074	ENSG00000111596.7	ENST00000552422.1
exon_skip_85426	12	70671911:70672054:70688016:70688074:70704674:70704703	70688016:70688074	ENSG00000111596.7	ENST00000552319.1
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENSG00000111596.7	ENST00000551132.1
exon_skip_85433	12	70671911:70672054:70704674:70704797:70713077:70713102	70704674:70704797	ENSG00000111596.7	ENST00000552231.1,ENST00000229195.3,ENST00000418359.3,ENST00000550160.1,ENST00000548021.1,ENST00000552915.1,ENST00000547321.1,ENST00000549750.1,ENST00000551043.1,ENST00000550194.1
exon_skip_85434	12	70671911:70672054:70704674:70704797:70729217:70729244	70704674:70704797	ENSG00000111596.7	ENST00000548599.1
exon_skip_85442	12	70679179:70679366:70688016:70688074:70704674:70704703	70688016:70688074	ENSG00000111596.7	ENST00000547867.1
exon_skip_85447	12	70688016:70688074:70691538:70691659:70704674:70704703	70691538:70691659	ENSG00000111596.7	ENST00000551661.1
exon_skip_85456	12	70704742:70704797:70713077:70713144:70723202:70723269	70713077:70713144	ENSG00000111596.7	ENST00000552231.1,ENST00000229195.3,ENST00000418359.3,ENST00000552319.1,ENST00000551132.1,ENST00000552915.1,ENST00000547321.1,ENST00000550641.1,ENST00000548159.1,ENST00000549750.1,ENST00000551043.1,ENST00000550194.1,ENST00000552151.1
exon_skip_85458	12	70704742:70704797:70713077:70713144:70729217:70729244	70713077:70713144	ENSG00000111596.7	ENST00000550160.1,ENST00000548021.1,ENST00000552483.1
exon_skip_85462	12	70704742:70704797:70726546:70726626:70729217:70729244	70726546:70726626	ENSG00000111596.7	ENST00000549443.1
exon_skip_85464	12	70713077:70713144:70723202:70723350:70726546:70726586	70723202:70723350	ENSG00000111596.7	ENST00000552915.1
exon_skip_85468	12	70723202:70723350:70724066:70724249:70726546:70726586	70724066:70724249	ENSG00000111596.7	ENST00000552231.1,ENST00000229195.3,ENST00000418359.3,ENST00000550641.1,ENST00000548159.1,ENST00000551043.1,ENST00000551873.1,ENST00000547149.1,ENST00000548230.1
exon_skip_85471	12	70723202:70723350:70726546:70726626:70729217:70729244	70726546:70726626	ENSG00000111596.7	ENST00000552915.1
exon_skip_85472	12	70724066:70724249:70726546:70726626:70729217:70729244	70726546:70726626	ENSG00000111596.7	ENST00000552231.1,ENST00000229195.3,ENST00000418359.3,ENST00000548159.1,ENST00000551043.1,ENST00000548230.1
exon_skip_85473	12	70724066:70724249:70726570:70726626:70729217:70729244	70726570:70726626	ENSG00000111596.7	ENST00000550194.1
exon_skip_85476	12	70731262:70731293:70731535:70731600:70732222:70732285	70731535:70731600	ENSG00000111596.7	ENST00000549947.1
exon_skip_85482	12	70735889:70735948:70736037:70736087:70737890:70738008	70736037:70736087	ENSG00000111596.7	ENST00000549709.1
exon_skip_85483	12	70735889:70735948:70736037:70736087:70737907:70737958	70736037:70736087	ENSG00000111596.7	ENST00000229195.3,ENST00000418359.3,ENST00000548159.1,ENST00000551043.1,ENST00000551483.1,ENST00000552599.1,ENST00000546673.1,ENST00000548338.1,ENST00000551434.1
exon_skip_85485	12	70737907:70738008:70739959:70740104:70747608:70747682	70739959:70740104	ENSG00000111596.7	ENST00000229195.3,ENST00000418359.3,ENST00000548159.1,ENST00000551043.1,ENST00000551483.1,ENST00000551434.1,ENST00000549709.1,ENST00000550705.1

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 CNOT2

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
ENST00000229195	70671911	70672054	5CDS-5UTR
ENST00000418359	70671911	70672054	5CDS-5UTR
ENST00000229195	70713077	70713144	Frame-shift
ENST00000418359	70713077	70713144	Frame-shift
ENST00000229195	70726546	70726626	Frame-shift
ENST00000418359	70726546	70726626	Frame-shift
ENST00000229195	70736037	70736087	Frame-shift
ENST00000418359	70736037	70736087	Frame-shift
ENST00000229195	70739959	70740104	Frame-shift
ENST00000418359	70739959	70740104	Frame-shift
ENST00000229195	70704674	70704797	In-frame
ENST00000418359	70704674	70704797	In-frame
ENST00000229195	70724066	70724249	In-frame
ENST00000418359	70724066	70724249	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
ENST00000229195	70671911	70672054	5CDS-5UTR
ENST00000418359	70671911	70672054	5CDS-5UTR
ENST00000229195	70713077	70713144	Frame-shift
ENST00000418359	70713077	70713144	Frame-shift
ENST00000229195	70726546	70726626	Frame-shift
ENST00000418359	70726546	70726626	Frame-shift
ENST00000229195	70736037	70736087	Frame-shift
ENST00000418359	70736037	70736087	Frame-shift
ENST00000229195	70739959	70740104	Frame-shift
ENST00000418359	70739959	70740104	Frame-shift
ENST00000229195	70704674	70704797	In-frame
ENST00000418359	70704674	70704797	In-frame
ENST00000229195	70724066	70724249	In-frame
ENST00000418359	70724066	70724249	In-frame

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Infer the effects of exon skipping event on protein functional features for CNOT2

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
ENST00000229195	3297	540	70704674	70704797	628	750	16	57
ENST00000418359	3169	540	70704674	70704797	500	622	16	57
ENST00000229195	3297	540	70724066	70724249	966	1148	129	189
ENST00000418359	3169	540	70724066	70724249	838	1020	129	189

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
ENST00000229195	3297	540	70704674	70704797	628	750	16	57
ENST00000418359	3169	540	70704674	70704797	500	622	16	57
ENST00000229195	3297	540	70724066	70724249	966	1148	129	189
ENST00000418359	3169	540	70724066	70724249	838	1020	129	189

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
Q9NZN8	16	57	1	349	Alternative sequence	ID=VSP_009913;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NZN8	16	57	1	349	Alternative sequence	ID=VSP_009913;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NZN8	16	57	1	175	Alternative sequence	ID=VSP_009912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9NZN8	16	57	1	175	Alternative sequence	ID=VSP_009912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9NZN8	16	57	1	540	Chain	ID=PRO_0000198331;Note=CCR4-NOT transcription complex subunit 2
Q9NZN8	16	57	1	540	Chain	ID=PRO_0000198331;Note=CCR4-NOT transcription complex subunit 2
Q9NZN8	129	189	1	349	Alternative sequence	ID=VSP_009913;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NZN8	129	189	1	349	Alternative sequence	ID=VSP_009913;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NZN8	129	189	1	175	Alternative sequence	ID=VSP_009912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9NZN8	129	189	1	175	Alternative sequence	ID=VSP_009912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9NZN8	129	189	1	540	Chain	ID=PRO_0000198331;Note=CCR4-NOT transcription complex subunit 2
Q9NZN8	129	189	1	540	Chain	ID=PRO_0000198331;Note=CCR4-NOT transcription complex subunit 2
Q9NZN8	129	189	157	157	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C5L3
Q9NZN8	129	189	157	157	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C5L3
Q9NZN8	129	189	165	165	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,E
Q9NZN8	129	189	165	165	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,E
Q9NZN8	129	189	169	169	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C5L3
Q9NZN8	129	189	169	169	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C5L3

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
Q9NZN8	16	57	1	349	Alternative sequence	ID=VSP_009913;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NZN8	16	57	1	349	Alternative sequence	ID=VSP_009913;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NZN8	16	57	1	175	Alternative sequence	ID=VSP_009912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9NZN8	16	57	1	175	Alternative sequence	ID=VSP_009912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9NZN8	16	57	1	540	Chain	ID=PRO_0000198331;Note=CCR4-NOT transcription complex subunit 2
Q9NZN8	16	57	1	540	Chain	ID=PRO_0000198331;Note=CCR4-NOT transcription complex subunit 2
Q9NZN8	129	189	1	349	Alternative sequence	ID=VSP_009913;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NZN8	129	189	1	349	Alternative sequence	ID=VSP_009913;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
Q9NZN8	129	189	1	175	Alternative sequence	ID=VSP_009912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9NZN8	129	189	1	175	Alternative sequence	ID=VSP_009912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.2
Q9NZN8	129	189	1	540	Chain	ID=PRO_0000198331;Note=CCR4-NOT transcription complex subunit 2
Q9NZN8	129	189	1	540	Chain	ID=PRO_0000198331;Note=CCR4-NOT transcription complex subunit 2
Q9NZN8	129	189	157	157	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C5L3
Q9NZN8	129	189	157	157	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C5L3
Q9NZN8	129	189	165	165	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,E
Q9NZN8	129	189	165	165	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:18691976,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,E
Q9NZN8	129	189	169	169	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C5L3
Q9NZN8	129	189	169	169	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8C5L3

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SNVs in the skipped exons for CNOT2

- 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
LIHC	TCGA-DD-A3A0-01	exon_skip_85464	70723203	70723350	70723307	70723307	Frame_Shift_Del	G	-	p.G115fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_85483 exon_skip_85482	70736038	70736087	70736080	70736080	Frame_Shift_Del	G	-	p.R79fs
BLCA	TCGA-CU-A0YR-01	exon_skip_85394	70671912	70672054	70672040	70672040	Nonsense_Mutation	A	T	p.K12*

- 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
ECC10_STOMACH	70704675	70704797	70704708	70704708	Missense_Mutation	A	C	p.K28Q
SNUC2A_LARGE_INTESTINE	70723203	70723350	70723233	70723233	Missense_Mutation	G	A	p.S90N
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70723203	70723350	70723334	70723334	Missense_Mutation	C	T	p.P124S
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	70724067	70724249	70724082	70724082	Missense_Mutation	G	A	p.M134I
HCT116_LARGE_INTESTINE	70724067	70724249	70724112	70724112	Missense_Mutation	G	T	p.Q144H
HEC6_ENDOMETRIUM	70724067	70724249	70724228	70724228	Missense_Mutation	G	A	p.R183Q
GP5D_LARGE_INTESTINE	70724067	70724249	70724246	70724246	Missense_Mutation	A	G	p.N189S
PACADD137_PANCREAS	70736038	70736087	70736065	70736065	Missense_Mutation	C	T	p.T423M
AN3CA_ENDOMETRIUM	70723203	70723350	70723203	70723203	Splice_Site	G	A	p.S80N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CNOT2

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_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	GBM	rs182720540	chr12:70695550	T/G	1.86e-06
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	GBM	rs182720540	chr12:70695550	T/G	1.12e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	BLCA	rs182720540	chr12:70695550	T/G	2.60e-08
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	BLCA	rs182720540	chr12:70695550	T/G	1.30e-07
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	ESCA	rs182720540	chr12:70695550	T/G	3.28e-05
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	ESCA	rs182720540	chr12:70695550	T/G	3.28e-05
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	HNSC	rs182720540	chr12:70695550	T/G	1.05e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	HNSC	rs182720540	chr12:70695550	T/G	3.20e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	BRCA	rs182720540	chr12:70695550	T/G	1.67e-24
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	BRCA	rs182720540	chr12:70695550	T/G	2.78e-23
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	KIRP	rs182720540	chr12:70695550	T/G	1.24e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	KIRP	rs182720540	chr12:70695550	T/G	1.40e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	LGG	rs182720540	chr12:70695550	T/G	2.55e-16
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	LGG	rs182720540	chr12:70695550	T/G	2.55e-16
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	LGG	rs182720540	chr12:70695550	T/G	1.75e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	LGG	rs182720540	chr12:70695550	T/G	2.00e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	KIRC	rs182720540	chr12:70695550	T/G	7.85e-07
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	KIRC	rs182720540	chr12:70695550	T/G	2.35e-06
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	LUAD	rs182720540	chr12:70695550	T/G	4.05e-12
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	LUAD	rs182720540	chr12:70695550	T/G	2.60e-10
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	LIHC	rs182720540	chr12:70695550	T/G	5.26e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	LUSC	rs182720540	chr12:70695550	T/G	1.59e-05
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	LUSC	rs182720540	chr12:70695550	T/G	1.59e-05
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	OV	rs182720540	chr12:70695550	T/G	4.33e-06
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	OV	rs182720540	chr12:70695550	T/G	1.02e-05
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	OV	rs182720540	chr12:70695550	T/G	1.06e-03
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	OV	rs182720540	chr12:70695550	T/G	1.36e-03
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	OV	rs186727667	chr12:70695577	A/G	2.14e-03
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	OV	rs186727667	chr12:70695577	A/G	2.34e-03
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	PCPG	rs182720540	chr12:70695550	T/G	9.01e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	PCPG	rs182720540	chr12:70695550	T/G	9.01e-04
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	PAAD	rs182720540	chr12:70695550	T/G	1.78e-05
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	PAAD	rs182720540	chr12:70695550	T/G	1.78e-05
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	PRAD	rs182720540	chr12:70695550	T/G	1.39e-15
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	PRAD	rs182720540	chr12:70695550	T/G	1.39e-15
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	PRAD	rs182720540	chr12:70695550	T/G	1.44e-03
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	SARC	rs182720540	chr12:70695550	T/G	3.17e-07
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	SARC	rs182720540	chr12:70695550	T/G	3.17e-07
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	THYM	rs182720540	chr12:70695550	T/G	1.75e-05
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	THYM	rs182720540	chr12:70695550	T/G	1.75e-05
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	TGCT	rs182720540	chr12:70695550	T/G	2.15e-06
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	TGCT	rs182720540	chr12:70695550	T/G	2.15e-06
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	STAD	rs182720540	chr12:70695550	T/G	3.71e-06
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	STAD	rs182720540	chr12:70695550	T/G	8.52e-06
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	THCA	rs182720540	chr12:70695550	T/G	8.40e-18
exon_skip_85432	12	70671911:70672054:70695484:70695645:70704674:70704703	70695484:70695645	ENST00000551132.1	THCA	rs182720540	chr12:70695550	T/G	8.40e-18

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNOT2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CNOT2

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RelatedDrugs for CNOT2

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 CNOT2

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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