ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TNR

Gene summary

Gene information	Gene symbol	TNR
	Gene ID	7143
	Gene name	tenascin R
	Synonyms	TN-R
	Cytomap	1q25.1
	Type of gene	protein-coding
	Description	tenascin-Rjanusinrestrictin
	Modification date	20180519
	UniProtAcc	Q92752
	Context	PubMed: TNR [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 TNR 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 TNR

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 TNR

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_34695	1	175293491:175293655:175299209:175299371:175304846:175304943	175299209:175299371	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2
exon_skip_34697	1	175331798:175331945:175332843:175332963:175334145:175334415	175332843:175332963	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2
exon_skip_34699	1	175334145:175334415:175335010:175335274:175336343:175336433	175335010:175335274	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2
exon_skip_34700	1	175348687:175348873:175355167:175355437:175360423:175360574	175355167:175355437	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2
exon_skip_34704	1	175362915:175363031:175365679:175365943:175372275:175372752	175365679:175365943	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2
exon_skip_34705	1	175362915:175363031:175365679:175365943:175375351:175375500	175365679:175365943	ENSG00000116147.12	ENST00000422274.2
exon_skip_34714	1	175365757:175365943:175372275:175372752:175375351:175375500	175372275:175372752	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TNR

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_34695	1	175293491:175293655:175299209:175299371:175304846:175304943	175299209:175299371	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2
exon_skip_34699	1	175334145:175334415:175335010:175335274:175336343:175336433	175335010:175335274	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2
exon_skip_34704	1	175362915:175363031:175365679:175365943:175372275:175372752	175365679:175365943	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2
exon_skip_34705	1	175362915:175363031:175365679:175365943:175375351:175375500	175365679:175365943	ENSG00000116147.12	ENST00000422274.2
exon_skip_34714	1	175365757:175365943:175372275:175372752:175375351:175375500	175372275:175372752	ENSG00000116147.12	ENST00000367674.2,ENST00000263525.2

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 TNR

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
ENST00000263525	175299209	175299371	In-frame
ENST00000367674	175299209	175299371	In-frame
ENST00000263525	175332843	175332963	In-frame
ENST00000367674	175332843	175332963	In-frame
ENST00000263525	175335010	175335274	In-frame
ENST00000367674	175335010	175335274	In-frame
ENST00000263525	175355167	175355437	In-frame
ENST00000367674	175355167	175355437	In-frame
ENST00000263525	175365679	175365943	In-frame
ENST00000367674	175365679	175365943	In-frame
ENST00000263525	175372275	175372752	In-frame
ENST00000367674	175372275	175372752	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
ENST00000263525	175299209	175299371	In-frame
ENST00000367674	175299209	175299371	In-frame
ENST00000263525	175335010	175335274	In-frame
ENST00000367674	175335010	175335274	In-frame
ENST00000263525	175365679	175365943	In-frame
ENST00000367674	175365679	175365943	In-frame
ENST00000263525	175372275	175372752	In-frame
ENST00000367674	175372275	175372752	In-frame

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

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
ENST00000263525	5207	1358	175372275	175372752	1055	1531	166	325
ENST00000367674	12966	1358	175372275	175372752	1209	1685	166	325
ENST00000263525	5207	1358	175365679	175365943	1532	1795	325	413
ENST00000367674	12966	1358	175365679	175365943	1686	1949	325	413
ENST00000263525	5207	1358	175355167	175355437	2063	2332	502	592
ENST00000367674	12966	1358	175355167	175355437	2217	2486	502	592
ENST00000263525	5207	1358	175335010	175335274	2609	2872	684	772
ENST00000367674	12966	1358	175335010	175335274	2763	3026	684	772
ENST00000263525	5207	1358	175332843	175332963	3143	3262	862	902
ENST00000367674	12966	1358	175332843	175332963	3297	3416	862	902
ENST00000263525	5207	1358	175299209	175299371	4187	4348	1210	1264
ENST00000367674	12966	1358	175299209	175299371	4341	4502	1210	1264

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
ENST00000263525	5207	1358	175372275	175372752	1055	1531	166	325
ENST00000367674	12966	1358	175372275	175372752	1209	1685	166	325
ENST00000263525	5207	1358	175365679	175365943	1532	1795	325	413
ENST00000367674	12966	1358	175365679	175365943	1686	1949	325	413
ENST00000263525	5207	1358	175335010	175335274	2609	2872	684	772
ENST00000367674	12966	1358	175335010	175335274	2763	3026	684	772
ENST00000263525	5207	1358	175299209	175299371	4187	4348	1210	1264
ENST00000367674	12966	1358	175299209	175299371	4341	4502	1210	1264

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
Q92752	166	325	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	166	325	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	166	325	155	314	Compositional bias	Note=Cys-rich
Q92752	166	325	155	314	Compositional bias	Note=Cys-rich
Q92752	166	325	292	301	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	292	301	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	297	312	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	297	312	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	314	323	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	314	323	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	188	199	Domain	Note=EGF-like 1
Q92752	166	325	188	199	Domain	Note=EGF-like 1
Q92752	166	325	219	230	Domain	Note=EGF-like 2
Q92752	166	325	219	230	Domain	Note=EGF-like 2
Q92752	166	325	250	261	Domain	Note=EGF-like 3
Q92752	166	325	250	261	Domain	Note=EGF-like 3
Q92752	166	325	281	292	Domain	Note=EGF-like 4
Q92752	166	325	281	292	Domain	Note=EGF-like 4
Q92752	166	325	312	323	Domain	Note=EGF-like 5
Q92752	166	325	312	323	Domain	Note=EGF-like 5
Q92752	166	325	180	180	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	180	180	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	198	198	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	198	198	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	278	278	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	278	278	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	293	293	Natural variant	ID=VAR_021907;Note=G->S;Dbxref=dbSNP:rs3752516
Q92752	166	325	293	293	Natural variant	ID=VAR_021907;Note=G->S;Dbxref=dbSNP:rs3752516
Q92752	166	325	302	302	Natural variant	ID=VAR_055780;Note=S->N;Dbxref=dbSNP:rs35736986
Q92752	166	325	302	302	Natural variant	ID=VAR_055780;Note=S->N;Dbxref=dbSNP:rs35736986
Q92752	325	413	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	325	413	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	325	413	328	420	Domain	Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	325	413	328	420	Domain	Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	325	413	392	392	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	325	413	392	392	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	502	592	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	502	592	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	502	592	421	505	Domain	Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	502	592	421	505	Domain	Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	502	592	506	595	Domain	Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	502	592	506	595	Domain	Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	502	592	581	581	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	502	592	581	581	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	684	772	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	684	772	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	684	772	596	687	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	684	772	596	687	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	684	772	688	777	Domain	Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	684	772	688	777	Domain	Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	684	772	724	724	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q05546
Q92752	684	772	724	724	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q05546
Q92752	862	902	773	862	Alternative sequence	ID=VSP_012993;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8626505;Dbxref=PMID:8626505
Q92752	862	902	773	862	Alternative sequence	ID=VSP_012993;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8626505;Dbxref=PMID:8626505
Q92752	862	902	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	862	902	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	862	902	778	865	Domain	Note=Fibronectin type-III 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	862	902	778	865	Domain	Note=Fibronectin type-III 6;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	862	902	866	955	Domain	Note=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	862	902	866	955	Domain	Note=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	862	902	874	874	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	862	902	874	874	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	1210	1264	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	1210	1264	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	1210	1264	1129	1344	Domain	Note=Fibrinogen C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	1210	1264	1129	1344	Domain	Note=Fibrinogen C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	1210	1264	1261	1261	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	1210	1264	1261	1261	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q92752	166	325	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	166	325	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	166	325	155	314	Compositional bias	Note=Cys-rich
Q92752	166	325	155	314	Compositional bias	Note=Cys-rich
Q92752	166	325	292	301	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	292	301	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	297	312	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	297	312	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	314	323	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	314	323	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	166	325	188	199	Domain	Note=EGF-like 1
Q92752	166	325	188	199	Domain	Note=EGF-like 1
Q92752	166	325	219	230	Domain	Note=EGF-like 2
Q92752	166	325	219	230	Domain	Note=EGF-like 2
Q92752	166	325	250	261	Domain	Note=EGF-like 3
Q92752	166	325	250	261	Domain	Note=EGF-like 3
Q92752	166	325	281	292	Domain	Note=EGF-like 4
Q92752	166	325	281	292	Domain	Note=EGF-like 4
Q92752	166	325	312	323	Domain	Note=EGF-like 5
Q92752	166	325	312	323	Domain	Note=EGF-like 5
Q92752	166	325	180	180	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	180	180	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	198	198	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	198	198	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	278	278	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	278	278	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	166	325	293	293	Natural variant	ID=VAR_021907;Note=G->S;Dbxref=dbSNP:rs3752516
Q92752	166	325	293	293	Natural variant	ID=VAR_021907;Note=G->S;Dbxref=dbSNP:rs3752516
Q92752	166	325	302	302	Natural variant	ID=VAR_055780;Note=S->N;Dbxref=dbSNP:rs35736986
Q92752	166	325	302	302	Natural variant	ID=VAR_055780;Note=S->N;Dbxref=dbSNP:rs35736986
Q92752	325	413	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	325	413	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	325	413	328	420	Domain	Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	325	413	328	420	Domain	Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	325	413	392	392	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	325	413	392	392	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	684	772	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	684	772	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	684	772	596	687	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	684	772	596	687	Domain	Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	684	772	688	777	Domain	Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	684	772	688	777	Domain	Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q92752	684	772	724	724	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q05546
Q92752	684	772	724	724	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q05546
Q92752	1210	1264	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	1210	1264	32	1358	Chain	ID=PRO_0000007747;Note=Tenascin-R
Q92752	1210	1264	1129	1344	Domain	Note=Fibrinogen C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	1210	1264	1129	1344	Domain	Note=Fibrinogen C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00739
Q92752	1210	1264	1261	1261	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92752	1210	1264	1261	1261	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for TNR

- 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-G3-A3CJ-01	exon_skip_34697	175332844	175332963	175332951	175332951	Frame_Shift_Del	G	-	p.P867fs
LUAD	TCGA-95-7039-01	exon_skip_34700	175355168	175355437	175355240	175355240	Frame_Shift_Del	G	-	p.R569fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_34700	175355168	175355437	175355365	175355365	Frame_Shift_Del	G	-	p.P527fs
LIHC	TCGA-DD-A39Y-01	exon_skip_34704 exon_skip_34705	175365680	175365943	175365823	175365823	Frame_Shift_Del	C	-	p.G366fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_34714	175372276	175372752	175372523	175372523	Frame_Shift_Del	C	-	p.G243fs
BLCA	TCGA-GV-A3JV-01	exon_skip_34714	175372276	175372752	175372615	175372615	Frame_Shift_Del	C	-	p.V213fs
LIHC	TCGA-DD-A1EG-01	exon_skip_34714	175372276	175372752	175372615	175372615	Frame_Shift_Del	C	-	p.V213fs
LIHC	TCGA-DD-A39Y-01	exon_skip_34714	175372276	175372752	175372615	175372615	Frame_Shift_Del	C	-	p.V213fs
HNSC	TCGA-CV-7253-01	exon_skip_34714	175372276	175372752	175372692	175372692	Frame_Shift_Del	C	-	p.G187fs
COAD	TCGA-AA-3663-01	exon_skip_34714	175372276	175372752	175372615	175372616	Frame_Shift_Ins	-	A	p.V213fs
HNSC	TCGA-CV-7427-01	exon_skip_34695	175299210	175299371	175299264	175299264	Nonsense_Mutation	C	A	p.E1247*
BLCA	TCGA-K4-A6MB-01	exon_skip_34695	175299210	175299371	175299342	175299342	Nonsense_Mutation	G	A	p.Q1221*
LUAD	TCGA-44-3918-01	exon_skip_34695	175299210	175299371	175299342	175299342	Nonsense_Mutation	G	A	p.Q1221*
SKCM	TCGA-D9-A3Z1-06	exon_skip_34697	175332844	175332963	175332856	175332856	Nonsense_Mutation	G	A	p.R899*
SKCM	TCGA-D9-A3Z1-06	exon_skip_34697	175332844	175332963	175332856	175332856	Nonsense_Mutation	G	A	p.R899X
SKCM	TCGA-EE-A2ML-06	exon_skip_34697	175332844	175332963	175332856	175332856	Nonsense_Mutation	G	A	p.R899*
SKCM	TCGA-EE-A2ML-06	exon_skip_34697	175332844	175332963	175332856	175332856	Nonsense_Mutation	G	A	p.R899X
STAD	TCGA-VQ-A92D-01	exon_skip_34697	175332844	175332963	175332856	175332856	Nonsense_Mutation	G	A	p.R899*
STAD	TCGA-VQ-A92D-01	exon_skip_34697	175332844	175332963	175332856	175332856	Nonsense_Mutation	G	A	p.R899X
SKCM	TCGA-EE-A2MC-06	exon_skip_34697	175332844	175332963	175332868	175332868	Nonsense_Mutation	G	A	p.R895*
SKCM	TCGA-EE-A2MC-06	exon_skip_34697	175332844	175332963	175332868	175332868	Nonsense_Mutation	G	A	p.R895X
THYM	TCGA-XU-A92U-01	exon_skip_34700	175355168	175355437	175355266	175355266	Nonsense_Mutation	G	T	p.S560X
LUAD	TCGA-55-6712-01	exon_skip_34700	175355168	175355437	175355363	175355363	Nonsense_Mutation	G	A	p.R528*
SKCM	TCGA-GN-A267-06	exon_skip_34704 exon_skip_34705	175365680	175365943	175365882	175365882	Nonsense_Mutation	C	T	p.W346*
SKCM	TCGA-GN-A267-06	exon_skip_34704 exon_skip_34705	175365680	175365943	175365882	175365882	Nonsense_Mutation	C	T	p.W346X
SKCM	TCGA-GN-A26C-01	exon_skip_34704 exon_skip_34705	175365680	175365943	175365882	175365882	Nonsense_Mutation	C	T	p.W346*
SKCM	TCGA-GN-A26C-01	exon_skip_34704 exon_skip_34705	175365680	175365943	175365882	175365882	Nonsense_Mutation	C	T	p.W346X
LUAD	TCGA-53-A4EZ-01	exon_skip_34714	175372276	175372752	175372342	175372342	Nonsense_Mutation	G	A	p.R304*
LUAD	TCGA-53-7624-01	exon_skip_34714	175372276	175372752	175372391	175372391	Nonsense_Mutation	G	T	p.Y287*
LUAD	TCGA-44-A4SS-01	exon_skip_34714	175372276	175372752	175372402	175372402	Nonsense_Mutation	C	A	p.E284*
LUAD	TCGA-55-8511-01	exon_skip_34714	175372276	175372752	175372484	175372484	Nonsense_Mutation	G	T	p.Y256*
LUSC	TCGA-51-4080-01	exon_skip_34695	175299210	175299371	175299209	175299209	Splice_Site	C	G	p.G1265_splice
STAD	TCGA-RD-A7C1-01	exon_skip_34704 exon_skip_34705	175365680	175365943	175365679	175365679	Splice_Site	C	T	.

- 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
NCIH740_LUNG	175335011	175335274	175335129	175335129	Frame_Shift_Del	G	-	p.P733fs
GP2D_LARGE_INTESTINE	175365680	175365943	175365823	175365823	Frame_Shift_Del	C	-	p.G366fs
GP5D_LARGE_INTESTINE	175365680	175365943	175365823	175365823	Frame_Shift_Del	C	-	p.G366fs
SNUC2A_LARGE_INTESTINE	175372276	175372752	175372615	175372615	Frame_Shift_Del	C	-	p.V213fs
22RV1_PROSTATE	175372276	175372752	175372615	175372615	Frame_Shift_Del	C	-	p.V213fs
SNGM_ENDOMETRIUM	175372276	175372752	175372615	175372615	Frame_Shift_Del	C	-	p.V213fs
SNUC2B_LARGE_INTESTINE	175372276	175372752	175372615	175372615	Frame_Shift_Del	C	-	p.V213fs
LOVO_LARGE_INTESTINE	175372276	175372752	175372614	175372615	Frame_Shift_Ins	-	C	p.V213fs
NCIH2342_LUNG	175299210	175299371	175299213	175299213	Missense_Mutation	C	A	p.A1264S
TE10_OESOPHAGUS	175299210	175299371	175299216	175299216	Missense_Mutation	T	A	p.T1263S
ASH3_THYROID	175299210	175299371	175299234	175299234	Missense_Mutation	T	G	p.I1257L
KURAMOCHI_OVARY	175299210	175299371	175299234	175299234	Missense_Mutation	T	G	p.I1257L
CP67MEL_SKIN	175299210	175299371	175299237	175299237	Missense_Mutation	G	A	p.R1256C
HCT15_LARGE_INTESTINE	175299210	175299371	175299288	175299288	Missense_Mutation	C	T	p.A1239T
LS411N_LARGE_INTESTINE	175299210	175299371	175299312	175299312	Missense_Mutation	G	A	p.R1231W
NCIH838_LUNG	175299210	175299371	175299321	175299321	Missense_Mutation	C	T	p.V1228M
SW48_LARGE_INTESTINE	175299210	175299371	175299323	175299323	Missense_Mutation	C	T	p.R1227H
RKO_LARGE_INTESTINE	175299210	175299371	175299347	175299347	Missense_Mutation	G	A	p.T1219I
KP3_PANCREAS	175332844	175332963	175332855	175332855	Missense_Mutation	C	T	p.R899Q
MELHO_SKIN	175332844	175332963	175332855	175332855	Missense_Mutation	C	G	p.R899P
TK10_KIDNEY	175332844	175332963	175332877	175332877	Missense_Mutation	C	A	p.D892Y
JHUEM7_ENDOMETRIUM	175332844	175332963	175332946	175332946	Missense_Mutation	C	A	p.D869Y
LS180_LARGE_INTESTINE	175335011	175335274	175335020	175335020	Missense_Mutation	C	T	p.A770T
SNU81_LARGE_INTESTINE	175335011	175335274	175335025	175335025	Missense_Mutation	A	C	p.V768G
EW11_BONE	175335011	175335274	175335049	175335049	Missense_Mutation	C	T	p.R760Q
TE4_OESOPHAGUS	175335011	175335274	175335095	175335095	Missense_Mutation	C	G	p.E745Q
NB1_AUTONOMIC_GANGLIA	175335011	175335274	175335098	175335098	Missense_Mutation	G	T	p.L744I
VMRCLCD_LUNG	175335011	175335274	175335098	175335098	Missense_Mutation	G	T	p.L744I
SARC9371_BONE	175335011	175335274	175335101	175335101	Missense_Mutation	C	T	p.D743N
MCC13_SKIN	175335011	175335274	175335193	175335193	Missense_Mutation	G	A	p.P712L
KYSE270_OESOPHAGUS	175335011	175335274	175335193	175335193	Missense_Mutation	G	A	p.P712L
MM386_SKIN	175335011	175335274	175335226	175335226	Missense_Mutation	G	A	p.S701F
TTC466_BONE	175355168	175355437	175355195	175355195	Missense_Mutation	C	T	p.D584N
NCIH1876_LUNG	175355168	175355437	175355197	175355197	Missense_Mutation	C	A	p.S583I
SUM159PT_BREAST	175355168	175355437	175355206	175355206	Missense_Mutation	G	A	p.T580I
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175355168	175355437	175355251	175355251	Missense_Mutation	C	T	p.R565Q
EBC1_LUNG	175355168	175355437	175355251	175355251	Missense_Mutation	C	A	p.R565L
MDAMB330_BREAST	175355168	175355437	175355251	175355251	Missense_Mutation	C	T	p.R565Q
COLO679_SKIN	175355168	175355437	175355257	175355257	Missense_Mutation	G	A	p.A563V
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175355168	175355437	175355300	175355300	Missense_Mutation	T	C	p.T549A
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175355168	175355437	175355318	175355318	Missense_Mutation	C	T	p.G543R
MFM223_BREAST	175355168	175355437	175355359	175355359	Missense_Mutation	G	C	p.A529G
DMS79_LUNG	175365680	175365943	175365701	175365701	Missense_Mutation	T	C	p.I407V
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175365680	175365943	175365734	175365734	Missense_Mutation	A	G	p.Y396H
DKMG_CENTRAL_NERVOUS_SYSTEM	175365680	175365943	175365823	175365823	Missense_Mutation	C	T	p.G366D
NCIH650_LUNG	175365680	175365943	175365830	175365830	Missense_Mutation	G	T	p.L364M
DMS454_LUNG	175365680	175365943	175365842	175365842	Missense_Mutation	G	T	p.Q360K
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175365680	175365943	175365862	175365862	Missense_Mutation	G	A	p.T353M
MDAMB415_BREAST	175365680	175365943	175365892	175365893	Missense_Mutation	TC	AT	p.E343M
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175365680	175365943	175365896	175365896	Missense_Mutation	T	C	p.I342V
HCC15_LUNG	175365680	175365943	175365922	175365922	Missense_Mutation	C	A	p.R333L
HCC2108_LUNG	175372276	175372752	175372290	175372290	Missense_Mutation	G	T	p.P321H
MORCPR_LUNG	175372276	175372752	175372290	175372290	Missense_Mutation	G	T	p.P321H
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175372276	175372752	175372304	175372304	Missense_Mutation	C	G	p.E316D
SNGM_ENDOMETRIUM	175372276	175372752	175372304	175372304	Missense_Mutation	C	A	p.E316D
KNS62_LUNG	175372276	175372752	175372318	175372318	Missense_Mutation	A	G	p.C312R
NCIH2172_LUNG	175372276	175372752	175372327	175372327	Missense_Mutation	C	G	p.E309Q
GMEL_SKIN	175372276	175372752	175372338	175372338	Missense_Mutation	C	T	p.G305E
SW684_SOFT_TISSUE	175372276	175372752	175372338	175372339	Missense_Mutation	CC	TT	p.G305K
HT144_SKIN	175372276	175372752	175372365	175372365	Missense_Mutation	T	G	p.Q296P
ABC1_LUNG	175372276	175372752	175372375	175372375	Missense_Mutation	C	T	p.G293S
NBTU110_AUTONOMIC_GANGLIA	175372276	175372752	175372375	175372375	Missense_Mutation	C	T	p.G293S
OSC20_UPPER_AERODIGESTIVE_TRACT	175372276	175372752	175372375	175372375	Missense_Mutation	C	T	p.G293S
RERFLCFM_LUNG	175372276	175372752	175372376	175372376	Missense_Mutation	G	C	p.C292W
HCC2450_LUNG	175372276	175372752	175372433	175372433	Missense_Mutation	C	A	p.K273N
MG63_BONE	175372276	175372752	175372433	175372433	Missense_Mutation	C	G	p.K273N
MDAMB453_BREAST	175372276	175372752	175372440	175372440	Missense_Mutation	G	A	p.S271L
MM386_SKIN	175372276	175372752	175372509	175372509	Missense_Mutation	C	T	p.G248E
PECAPJ15_UPPER_AERODIGESTIVE_TRACT	175372276	175372752	175372510	175372510	Missense_Mutation	C	T	p.G248R
NCIH522_LUNG	175372276	175372752	175372511	175372511	Missense_Mutation	G	T	p.D247E
TUHR4TKB_KIDNEY	175372276	175372752	175372522	175372522	Missense_Mutation	G	A	p.L244F
GAMG_CENTRAL_NERVOUS_SYSTEM	175372276	175372752	175372551	175372551	Missense_Mutation	C	T	p.R234Q
JHU028_LUNG	175372276	175372752	175372611	175372611	Missense_Mutation	C	G	p.C214S
KYSE140_OESOPHAGUS	175372276	175372752	175372654	175372654	Missense_Mutation	A	T	p.S200T
MUGCHOR1_BONE	175372276	175372752	175372679	175372679	Missense_Mutation	G	T	p.N191K
D566MG_CENTRAL_NERVOUS_SYSTEM	175372276	175372752	175372717	175372717	Missense_Mutation	C	A	p.G179C
NCIH510_LUNG	175372276	175372752	175372730	175372730	Missense_Mutation	G	T	p.H174Q
NCIH847_LUNG	175372276	175372752	175372746	175372746	Missense_Mutation	A	C	p.L169R
NCC021_KIDNEY	175355168	175355437	175355235	175355235	Nonsense_Mutation	G	C	p.Y570*
NCIH2023_LUNG	175355168	175355437	175355315	175355315	Nonsense_Mutation	C	A	p.E544*
DMS454_LUNG	175365680	175365943	175365842	175365843	Nonsense_Mutation	GG	TT	p.359_360YQ>*K
DMS454_LUNG	175365680	175365943	175365843	175365843	Nonsense_Mutation	G	T	p.Y359*
HS729_SOFT_TISSUE	175372276	175372752	175372342	175372342	Nonsense_Mutation	G	A	p.R304*
SNU1040_LARGE_INTESTINE	175372276	175372752	175372670	175372670	Nonsense_Mutation	C	T	p.W194*
NCIH1666_LUNG	175335011	175335274	175335273	175335273	Splice_Site	T	C	p.E685E
BICR18_UPPER_AERODIGESTIVE_TRACT	175365680	175365943	175365681	175365681	Splice_Site	G	A	p.T413T
S117_SOFT_TISSUE	175365680	175365943	175365681	175365681	Splice_Site	G	A	p.T413T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175365680	175365943	175365681	175365681	Splice_Site	G	A	p.T413T
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175365680	175365943	175365681	175365681	Splice_Site	G	A	p.T413T
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	175365680	175365943	175365681	175365681	Splice_Site	G	A	p.T413T
GP2D_LARGE_INTESTINE	175372276	175372752	175372751	175372751	Splice_Site	T	C	p.G167G
GP5D_LARGE_INTESTINE	175372276	175372752	175372751	175372751	Splice_Site	T	C	p.G167G

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

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 TNR

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

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RelatedDrugs for TNR

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 TNR

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TNR	C0000786	Spontaneous abortion	1	CTD_human
TNR	C0017639	Gliosis	1	CTD_human

	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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