ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TNRC18

Gene summary

Gene information	Gene symbol	TNRC18
	Gene ID	84629
	Gene name	trinucleotide repeat containing 18
	Synonyms	CAGL79\|TNRC18A
	Cytomap	7p22.1
	Type of gene	protein-coding
	Description	trinucleotide repeat-containing gene 18 proteinlong CAG trinucleotide repeat-containing gene 79 protein
	Modification date	20180522
	UniProtAcc	O15417
	Context	PubMed: TNRC18 [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 TNRC18 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 TNRC18

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 TNRC18

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_473402	7	5348505:5348580:5348762:5348999:5352133:5353490	5348762:5348999	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473405	7	5352741:5353494:5354614:5354779:5355586:5355703	5354614:5354779	ENSG00000182095.10	ENST00000328270.3,ENST00000430969.1
exon_skip_473414	7	5364738:5364879:5369567:5369600:5372252:5372509	5369567:5369600	ENSG00000182095.10	ENST00000455076.1
exon_skip_473416	7	5364726:5364879:5372252:5372680:5385192:5385441	5372252:5372680	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473419	7	5385192:5385441:5391449:5391725:5396546:5396907	5391449:5391725	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473420	7	5396546:5396907:5399028:5399200:5401224:5401353	5399028:5399200	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473422	7	5399028:5399200:5401224:5401353:5401527:5401658	5401224:5401353	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473424	7	5402280:5402456:5410005:5410995:5413685:5414112	5410005:5410995	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473425	7	5415744:5415855:5416477:5416624:5417001:5417207	5416477:5416624	ENSG00000182095.10	ENST00000399537.4,ENST00000413081.1,ENST00000430969.1
exon_skip_473429	7	5428935:5428967:5430115:5430259:5434070:5434114	5430115:5430259	ENSG00000182095.10	ENST00000434361.1,ENST00000399537.4,ENST00000430969.1
exon_skip_473436	7	5430115:5430259:5434070:5434226:5460690:5461120	5434070:5434226	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473446	7	5434070:5434226:5460690:5461120:5463071:5463177	5460690:5461120	ENSG00000182095.10	ENST00000430969.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TNRC18

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_473402	7	5348505:5348580:5348762:5348999:5352133:5353490	5348762:5348999	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473405	7	5352741:5353494:5354614:5354779:5355586:5355703	5354614:5354779	ENSG00000182095.10	ENST00000430969.1,ENST00000328270.3
exon_skip_473414	7	5364738:5364879:5369567:5369600:5372252:5372509	5369567:5369600	ENSG00000182095.10	ENST00000455076.1
exon_skip_473416	7	5364726:5364879:5372252:5372680:5385192:5385441	5372252:5372680	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473419	7	5385192:5385441:5391449:5391725:5396546:5396907	5391449:5391725	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473420	7	5396546:5396907:5399028:5399200:5401224:5401353	5399028:5399200	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473422	7	5399028:5399200:5401224:5401353:5401527:5401658	5401224:5401353	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473424	7	5402280:5402456:5410005:5410995:5413685:5414112	5410005:5410995	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1
exon_skip_473425	7	5415744:5415855:5416477:5416624:5417001:5417207	5416477:5416624	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1,ENST00000413081.1
exon_skip_473429	7	5428935:5428967:5430115:5430259:5434070:5434114	5430115:5430259	ENSG00000182095.10	ENST00000399537.4,ENST00000430969.1,ENST00000434361.1
exon_skip_473446	7	5434070:5434226:5460690:5461120:5463071:5463177	5460690:5461120	ENSG00000182095.10	ENST00000430969.1

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 TNRC18

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
ENST00000430969	5460690	5461120	3UTR-3CDS
ENST00000430969	5372252	5372680	Frame-shift
ENST00000430969	5399028	5399200	Frame-shift
ENST00000430969	5348762	5348999	In-frame
ENST00000430969	5354614	5354779	In-frame
ENST00000430969	5391449	5391725	In-frame
ENST00000430969	5401224	5401353	In-frame
ENST00000430969	5410005	5410995	In-frame
ENST00000430969	5416477	5416624	In-frame
ENST00000430969	5430115	5430259	In-frame
ENST00000430969	5434070	5434226	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
ENST00000430969	5460690	5461120	3UTR-3CDS
ENST00000430969	5372252	5372680	Frame-shift
ENST00000430969	5399028	5399200	Frame-shift
ENST00000430969	5348762	5348999	In-frame
ENST00000430969	5354614	5354779	In-frame
ENST00000430969	5391449	5391725	In-frame
ENST00000430969	5401224	5401353	In-frame
ENST00000430969	5410005	5410995	In-frame
ENST00000430969	5416477	5416624	In-frame
ENST00000430969	5430115	5430259	In-frame

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Infer the effects of exon skipping event on protein functional features for TNRC18

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
ENST00000430969	10579	2968	5434070	5434226	537	692	62	114
ENST00000430969	10579	2968	5430115	5430259	693	836	114	162
ENST00000430969	10579	2968	5416477	5416624	2811	2957	820	869
ENST00000430969	10579	2968	5410005	5410995	3579	4568	1076	1406
ENST00000430969	10579	2968	5401224	5401353	4882	5010	1511	1553
ENST00000430969	10579	2968	5391449	5391725	5544	5819	1731	1823
ENST00000430969	10579	2968	5354614	5354779	7212	7376	2287	2342
ENST00000430969	10579	2968	5348762	5348999	8738	8974	2796	2875

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
ENST00000430969	10579	2968	5430115	5430259	693	836	114	162
ENST00000430969	10579	2968	5416477	5416624	2811	2957	820	869
ENST00000430969	10579	2968	5410005	5410995	3579	4568	1076	1406
ENST00000430969	10579	2968	5401224	5401353	4882	5010	1511	1553
ENST00000430969	10579	2968	5391449	5391725	5544	5819	1731	1823
ENST00000430969	10579	2968	5354614	5354779	7212	7376	2287	2342
ENST00000430969	10579	2968	5348762	5348999	8738	8974	2796	2875

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
O15417	62	114	1	1064	Alternative sequence	ID=VSP_033124;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	62	114	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	114	162	1	1064	Alternative sequence	ID=VSP_033124;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	114	162	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	820	869	1	1064	Alternative sequence	ID=VSP_033124;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	820	869	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	1076	1406	1403	1490	Alternative sequence	ID=VSP_033128;Note=In isoform 3. QEMGGAERALVARPSLESLLAAGSHMLREVLDGPVVDPLKNLRLPRELKPNKKYSWMRKKEERMYAMKSSLEDMDALELDFRMRLAEV->PPQGLPPCMGQGSPMPAGLPDCARGPAPTLSGWPRLGEQSRVGLQPGVSVKGTRWRGPGTGPPWSKPSHYRKPQWC;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1
O15417	1076	1406	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	1076	1406	968	1192	Compositional bias	Note=Pro-rich
O15417	1076	1406	1127	1127	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O15417	1076	1406	1136	1136	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O15417	1076	1406	1193	1193	Natural variant	ID=VAR_042722;Note=A->G;Dbxref=dbSNP:rs12671708
O15417	1076	1406	1255	1255	Sequence conflict	Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15417	1076	1406	1267	1267	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15417	1076	1406	1343	1343	Sequence conflict	Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15417	1511	1553	1491	2968	Alternative sequence	ID=VSP_033129;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	1511	1553	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	1511	1553	1481	1516	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15417	1511	1553	1540	1540	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O15417	1731	1823	1491	2968	Alternative sequence	ID=VSP_033129;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	1731	1823	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	2287	2342	1491	2968	Alternative sequence	ID=VSP_033129;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	2287	2342	2257	2968	Alternative sequence	ID=VSP_033127;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
O15417	2287	2342	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	2287	2342	2292	2292	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15417	2796	2875	1491	2968	Alternative sequence	ID=VSP_033129;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	2796	2875	2257	2968	Alternative sequence	ID=VSP_033127;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
O15417	2796	2875	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	2796	2875	2817	2962	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370

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
O15417	114	162	1	1064	Alternative sequence	ID=VSP_033124;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	114	162	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	820	869	1	1064	Alternative sequence	ID=VSP_033124;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	820	869	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	1076	1406	1403	1490	Alternative sequence	ID=VSP_033128;Note=In isoform 3. QEMGGAERALVARPSLESLLAAGSHMLREVLDGPVVDPLKNLRLPRELKPNKKYSWMRKKEERMYAMKSSLEDMDALELDFRMRLAEV->PPQGLPPCMGQGSPMPAGLPDCARGPAPTLSGWPRLGEQSRVGLQPGVSVKGTRWRGPGTGPPWSKPSHYRKPQWC;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1
O15417	1076	1406	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	1076	1406	968	1192	Compositional bias	Note=Pro-rich
O15417	1076	1406	1127	1127	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O15417	1076	1406	1136	1136	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O15417	1076	1406	1193	1193	Natural variant	ID=VAR_042722;Note=A->G;Dbxref=dbSNP:rs12671708
O15417	1076	1406	1255	1255	Sequence conflict	Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15417	1076	1406	1267	1267	Sequence conflict	Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15417	1076	1406	1343	1343	Sequence conflict	Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15417	1511	1553	1491	2968	Alternative sequence	ID=VSP_033129;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	1511	1553	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	1511	1553	1481	1516	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15417	1511	1553	1540	1540	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
O15417	1731	1823	1491	2968	Alternative sequence	ID=VSP_033129;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	1731	1823	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	2287	2342	1491	2968	Alternative sequence	ID=VSP_033129;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	2287	2342	2257	2968	Alternative sequence	ID=VSP_033127;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
O15417	2287	2342	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	2287	2342	2292	2292	Sequence conflict	Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15417	2796	2875	1491	2968	Alternative sequence	ID=VSP_033129;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O15417	2796	2875	2257	2968	Alternative sequence	ID=VSP_033127;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
O15417	2796	2875	1	2968	Chain	ID=PRO_0000299142;Note=Trinucleotide repeat-containing gene 18 protein
O15417	2796	2875	2817	2962	Domain	Note=BAH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00370

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SNVs in the skipped exons for TNRC18

- 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.

TNRC18_LIHC_exon_skip_473416_psi_boxplot.png
boxplot

TNRC18_LIHC_exon_skip_473422_psi_boxplot.png
boxplot

TNRC18_LIHC_exon_skip_473424_psi_boxplot.png
boxplot

TNRC18_LUAD_exon_skip_473424_psi_boxplot.png
boxplot

TNRC18_PRAD_exon_skip_473422_psi_boxplot.png
boxplot

TNRC18_STAD_exon_skip_473424_psi_boxplot.png
boxplot

TNRC18_THCA_exon_skip_473422_psi_boxplot.png
boxplot

- 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_473402	5348763	5348999	5348802	5348802	Frame_Shift_Del	G	-	p.P2862fs
LIHC	TCGA-DD-A3A0-01	exon_skip_473402	5348763	5348999	5348921	5348921	Frame_Shift_Del	C	-	p.D2823fs
LIHC	TCGA-DD-A39Y-01	exon_skip_473405	5354615	5354779	5354617	5354617	Frame_Shift_Del	C	-	p.G2343fs
KIRP	TCGA-UZ-A9PX-01	exon_skip_473405	5354615	5354779	5354660	5354669	Frame_Shift_Del	TGGCTCCTGG	-	p.2325_2328del
LIHC	TCGA-DD-A1EG-01	exon_skip_473416	5372253	5372680	5372259	5372259	Frame_Shift_Del	G	-	p.P2047fs
STAD	TCGA-CG-5726-01	exon_skip_473419	5391450	5391725	5391519	5391519	Frame_Shift_Del	A	-	p.C1801fs
UCEC	TCGA-BG-A0MQ-01	exon_skip_473419	5391450	5391725	5391564	5391564	Frame_Shift_Del	G	-	p.R1786fs
LIHC	TCGA-DD-A39Y-01	exon_skip_473419	5391450	5391725	5391675	5391675	Frame_Shift_Del	G	-	p.Q1749fs
COAD	TCGA-A6-6653-01	exon_skip_473420	5399029	5399200	5399080	5399080	Frame_Shift_Del	C	-	p.R1595fs
LIHC	TCGA-DD-A3A0-01	exon_skip_473420	5399029	5399200	5399092	5399092	Frame_Shift_Del	C	-	p.G1590fs
HNSC	TCGA-CV-5970-01	exon_skip_473422	5401225	5401353	5401259	5401259	Frame_Shift_Del	G	-	p.R1543fs
LIHC	TCGA-DD-A39Y-01	exon_skip_473422	5401225	5401353	5401259	5401259	Frame_Shift_Del	G	-	p.R1543fs
PRAD	TCGA-V1-A9OA-01	exon_skip_473422	5401225	5401353	5401259	5401259	Frame_Shift_Del	G	-	p.R1543fs
THCA	TCGA-DJ-A3V7-01	exon_skip_473422	5401225	5401353	5401259	5401259	Frame_Shift_Del	G	-	p.R1543fs
UCEC	TCGA-D1-A101-01	exon_skip_473422	5401225	5401353	5401259	5401259	Frame_Shift_Del	G	-	p.R1543fs
LIHC	TCGA-DD-A1EG-01	exon_skip_473424	5410006	5410995	5410321	5410321	Frame_Shift_Del	C	-	p.E1302fs
STAD	TCGA-HU-A4GQ-01	exon_skip_473424	5410006	5410995	5410321	5410321	Frame_Shift_Del	C	-	p.E1302fs
LIHC	TCGA-DD-A3A0-01	exon_skip_473424	5410006	5410995	5410441	5410441	Frame_Shift_Del	C	-	p.V1262fs
LIHC	TCGA-BC-A3KG-01	exon_skip_473424	5410006	5410995	5410486	5410486	Frame_Shift_Del	C	-	p.V1247fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_473425	5416478	5416624	5416579	5416579	Frame_Shift_Del	G	-	p.P837fs
LIHC	TCGA-DD-A1EG-01	exon_skip_473425	5416478	5416624	5416612	5416612	Frame_Shift_Del	G	-	p.P825fs
LIHC	TCGA-DD-A1EG-01	exon_skip_473429	5430116	5430259	5430179	5430179	Frame_Shift_Del	G	-	p.L143fs
LIHC	TCGA-DD-A3A0-01	exon_skip_473429	5430116	5430259	5430195	5430195	Frame_Shift_Del	G	-	p.P136fs
UCEC	TCGA-AP-A0LE-01	exon_skip_473429	5430116	5430259	5430195	5430195	Frame_Shift_Del	G	-	p.P136fs
LIHC	TCGA-DD-A1EG-01	exon_skip_473436	5434071	5434226	5434124	5434124	Frame_Shift_Del	G	-	p.P97fs
LIHC	TCGA-DD-A3A0-01	exon_skip_473436	5434071	5434226	5434124	5434124	Frame_Shift_Del	G	-	p.P97fs
THCA	TCGA-DJ-A4UQ-01	exon_skip_473436	5434071	5434226	5434124	5434124	Frame_Shift_Del	G	-	p.P97fs
LUAD	TCGA-17-Z058-01	exon_skip_473422	5401225	5401353	5401258	5401259	Frame_Shift_Ins	-	GG	p.Q1543fs
UCEC	TCGA-BS-A0U8-01	exon_skip_473419	5391450	5391725	5391498	5391498	Nonsense_Mutation	C	A	p.E1808*
SKCM	TCGA-EB-A6QY-01	exon_skip_473419	5391450	5391725	5391507	5391507	Nonsense_Mutation	G	A	p.R1805*
LUSC	TCGA-85-6561-01	exon_skip_473419	5391450	5391725	5391687	5391687	Nonsense_Mutation	C	A	p.E1745*
SARC	TCGA-QQ-A8VB-01	exon_skip_473419	5391450	5391725	5391711	5391711	Nonsense_Mutation	C	A	p.E1737*
UCEC	TCGA-D1-A17Q-01	exon_skip_473424	5410006	5410995	5410351	5410351	Nonsense_Mutation	C	A	p.E1292*
LUAD	TCGA-05-4410-01	exon_skip_473424	5410006	5410995	5410699	5410699	Nonsense_Mutation	C	A	p.E1176*
BLCA	TCGA-ZF-AA51-01	exon_skip_473424	5410006	5410995	5410927	5410927	Nonsense_Mutation	G	A	p.Q1100*
GBM	TCGA-26-1442-01	exon_skip_473405	5354615	5354779	5354614	5354614	Splice_Site	C	A	p.D2343_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473416
	Skipped exon start: 5372253
	Skipped exon end: 5372680
	Mutation start: 5372259
	Mutation end: 5372259
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P2047fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473424
	Skipped exon start: 5410006
	Skipped exon end: 5410995
	Mutation start: 5410321
	Mutation end: 5410321
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.E1302fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473425
	Skipped exon start: 5416478
	Skipped exon end: 5416624
	Mutation start: 5416612
	Mutation end: 5416612
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P825fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473429
	Skipped exon start: 5430116
	Skipped exon end: 5430259
	Mutation start: 5430179
	Mutation end: 5430179
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L143fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473436
	Skipped exon start: 5434071
	Skipped exon end: 5434226
	Mutation start: 5434124
	Mutation end: 5434124
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P97fs
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_309505_LIHC_TCGA-DD-A1EG-01.png
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exon_skip_331787_LIHC_TCGA-DD-A1EG-01.png
exon_skip_33329_LIHC_TCGA-DD-A1EG-01.png
exon_skip_33532_LIHC_TCGA-DD-A1EG-01.png
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	Sample: TCGA-HU-A4GQ-01
	Cancer type: STAD
	ESID: exon_skip_473424
	Skipped exon start: 5410006
	Skipped exon end: 5410995
	Mutation start: 5410321
	Mutation end: 5410321
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.E1302fs
exon_skip_102588_STAD_TCGA-HU-A4GQ-01.png
exon_skip_137953_STAD_TCGA-HU-A4GQ-01.png
exon_skip_28428_STAD_TCGA-HU-A4GQ-01.png
exon_skip_298309_STAD_TCGA-HU-A4GQ-01.png
exon_skip_299452_STAD_TCGA-HU-A4GQ-01.png
exon_skip_3339_STAD_TCGA-HU-A4GQ-01.png
exon_skip_454598_STAD_TCGA-HU-A4GQ-01.png
exon_skip_473424_STAD_TCGA-HU-A4GQ-01.png
	Sample: TCGA-V1-A9OA-01
	Cancer type: PRAD
	ESID: exon_skip_473422
	Skipped exon start: 5401225
	Skipped exon end: 5401353
	Mutation start: 5401259
	Mutation end: 5401259
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.R1543fs
exon_skip_473422_PRAD_TCGA-V1-A9OA-01.png
	Sample: TCGA-DJ-A3V7-01
	Cancer type: THCA
	ESID: exon_skip_473422
	Skipped exon start: 5401225
	Skipped exon end: 5401353
	Mutation start: 5401259
	Mutation end: 5401259
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.R1543fs
exon_skip_473422_THCA_TCGA-DJ-A3V7-01.png
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473416
	Skipped exon start: 5372253
	Skipped exon end: 5372680
	Mutation start: 5372259
	Mutation end: 5372259
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P2047fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473424
	Skipped exon start: 5410006
	Skipped exon end: 5410995
	Mutation start: 5410321
	Mutation end: 5410321
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.E1302fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473425
	Skipped exon start: 5416478
	Skipped exon end: 5416624
	Mutation start: 5416612
	Mutation end: 5416612
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P825fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473429
	Skipped exon start: 5430116
	Skipped exon end: 5430259
	Mutation start: 5430179
	Mutation end: 5430179
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.L143fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_473436
	Skipped exon start: 5434071
	Skipped exon end: 5434226
	Mutation start: 5434124
	Mutation end: 5434124
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.P97fs
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exon_skip_373849_LIHC_TCGA-DD-A1EG-01.png
exon_skip_37497_LIHC_TCGA-DD-A1EG-01.png
exon_skip_375393_LIHC_TCGA-DD-A1EG-01.png
exon_skip_376191_LIHC_TCGA-DD-A1EG-01.png
exon_skip_376308_LIHC_TCGA-DD-A1EG-01.png
exon_skip_376316_LIHC_TCGA-DD-A1EG-01.png
exon_skip_377238_LIHC_TCGA-DD-A1EG-01.png
exon_skip_378935_LIHC_TCGA-DD-A1EG-01.png
exon_skip_379213_LIHC_TCGA-DD-A1EG-01.png
exon_skip_380574_LIHC_TCGA-DD-A1EG-01.png
exon_skip_380826_LIHC_TCGA-DD-A1EG-01.png
exon_skip_380829_LIHC_TCGA-DD-A1EG-01.png
exon_skip_381100_LIHC_TCGA-DD-A1EG-01.png
exon_skip_382085_LIHC_TCGA-DD-A1EG-01.png
exon_skip_382430_LIHC_TCGA-DD-A1EG-01.png
exon_skip_383797_LIHC_TCGA-DD-A1EG-01.png
exon_skip_384120_LIHC_TCGA-DD-A1EG-01.png
exon_skip_384513_LIHC_TCGA-DD-A1EG-01.png
exon_skip_384562_LIHC_TCGA-DD-A1EG-01.png
exon_skip_385178_LIHC_TCGA-DD-A1EG-01.png
exon_skip_385335_LIHC_TCGA-DD-A1EG-01.png
exon_skip_386274_LIHC_TCGA-DD-A1EG-01.png
exon_skip_386965_LIHC_TCGA-DD-A1EG-01.png
exon_skip_387419_LIHC_TCGA-DD-A1EG-01.png
exon_skip_38855_LIHC_TCGA-DD-A1EG-01.png
exon_skip_390081_LIHC_TCGA-DD-A1EG-01.png
exon_skip_3924_LIHC_TCGA-DD-A1EG-01.png
exon_skip_40143_LIHC_TCGA-DD-A1EG-01.png
exon_skip_421134_LIHC_TCGA-DD-A1EG-01.png
exon_skip_421552_LIHC_TCGA-DD-A1EG-01.png
exon_skip_422397_LIHC_TCGA-DD-A1EG-01.png
exon_skip_422548_LIHC_TCGA-DD-A1EG-01.png
exon_skip_423021_LIHC_TCGA-DD-A1EG-01.png
exon_skip_426236_LIHC_TCGA-DD-A1EG-01.png
exon_skip_426699_LIHC_TCGA-DD-A1EG-01.png
exon_skip_427391_LIHC_TCGA-DD-A1EG-01.png
exon_skip_427930_LIHC_TCGA-DD-A1EG-01.png
exon_skip_429469_LIHC_TCGA-DD-A1EG-01.png
exon_skip_430601_LIHC_TCGA-DD-A1EG-01.png
exon_skip_430604_LIHC_TCGA-DD-A1EG-01.png
exon_skip_430616_LIHC_TCGA-DD-A1EG-01.png
exon_skip_431557_LIHC_TCGA-DD-A1EG-01.png
exon_skip_433436_LIHC_TCGA-DD-A1EG-01.png
exon_skip_433459_LIHC_TCGA-DD-A1EG-01.png
exon_skip_434665_LIHC_TCGA-DD-A1EG-01.png
exon_skip_435300_LIHC_TCGA-DD-A1EG-01.png
exon_skip_435301_LIHC_TCGA-DD-A1EG-01.png
exon_skip_435931_LIHC_TCGA-DD-A1EG-01.png
exon_skip_436646_LIHC_TCGA-DD-A1EG-01.png
exon_skip_436987_LIHC_TCGA-DD-A1EG-01.png
exon_skip_438105_LIHC_TCGA-DD-A1EG-01.png
exon_skip_438770_LIHC_TCGA-DD-A1EG-01.png
exon_skip_43999_LIHC_TCGA-DD-A1EG-01.png
exon_skip_440168_LIHC_TCGA-DD-A1EG-01.png
exon_skip_440170_LIHC_TCGA-DD-A1EG-01.png
exon_skip_441705_LIHC_TCGA-DD-A1EG-01.png
exon_skip_443104_LIHC_TCGA-DD-A1EG-01.png
exon_skip_443977_LIHC_TCGA-DD-A1EG-01.png
exon_skip_443978_LIHC_TCGA-DD-A1EG-01.png
exon_skip_444190_LIHC_TCGA-DD-A1EG-01.png
exon_skip_444765_LIHC_TCGA-DD-A1EG-01.png
exon_skip_445559_LIHC_TCGA-DD-A1EG-01.png
exon_skip_446492_LIHC_TCGA-DD-A1EG-01.png
exon_skip_446495_LIHC_TCGA-DD-A1EG-01.png
exon_skip_449536_LIHC_TCGA-DD-A1EG-01.png
exon_skip_449592_LIHC_TCGA-DD-A1EG-01.png
exon_skip_4499_LIHC_TCGA-DD-A1EG-01.png
exon_skip_450058_LIHC_TCGA-DD-A1EG-01.png
exon_skip_450540_LIHC_TCGA-DD-A1EG-01.png
exon_skip_451867_LIHC_TCGA-DD-A1EG-01.png
exon_skip_456736_LIHC_TCGA-DD-A1EG-01.png
exon_skip_457729_LIHC_TCGA-DD-A1EG-01.png
exon_skip_457730_LIHC_TCGA-DD-A1EG-01.png
exon_skip_457842_LIHC_TCGA-DD-A1EG-01.png
exon_skip_459148_LIHC_TCGA-DD-A1EG-01.png
exon_skip_462138_LIHC_TCGA-DD-A1EG-01.png
exon_skip_466984_LIHC_TCGA-DD-A1EG-01.png
exon_skip_467199_LIHC_TCGA-DD-A1EG-01.png
exon_skip_467371_LIHC_TCGA-DD-A1EG-01.png
exon_skip_467372_LIHC_TCGA-DD-A1EG-01.png
exon_skip_46817_LIHC_TCGA-DD-A1EG-01.png
exon_skip_471387_LIHC_TCGA-DD-A1EG-01.png
exon_skip_471458_LIHC_TCGA-DD-A1EG-01.png
exon_skip_472013_LIHC_TCGA-DD-A1EG-01.png
exon_skip_472955_LIHC_TCGA-DD-A1EG-01.png
exon_skip_473416_LIHC_TCGA-DD-A1EG-01.png
exon_skip_475734_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476238_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476392_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476535_LIHC_TCGA-DD-A1EG-01.png
exon_skip_478361_LIHC_TCGA-DD-A1EG-01.png
exon_skip_47845_LIHC_TCGA-DD-A1EG-01.png
exon_skip_483792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_483806_LIHC_TCGA-DD-A1EG-01.png
exon_skip_484511_LIHC_TCGA-DD-A1EG-01.png
exon_skip_486903_LIHC_TCGA-DD-A1EG-01.png
exon_skip_486908_LIHC_TCGA-DD-A1EG-01.png
exon_skip_487634_LIHC_TCGA-DD-A1EG-01.png
exon_skip_48914_LIHC_TCGA-DD-A1EG-01.png
exon_skip_489575_LIHC_TCGA-DD-A1EG-01.png
exon_skip_489706_LIHC_TCGA-DD-A1EG-01.png
exon_skip_490514_LIHC_TCGA-DD-A1EG-01.png
exon_skip_492073_LIHC_TCGA-DD-A1EG-01.png
exon_skip_494000_LIHC_TCGA-DD-A1EG-01.png
exon_skip_495598_LIHC_TCGA-DD-A1EG-01.png
exon_skip_495600_LIHC_TCGA-DD-A1EG-01.png
exon_skip_497719_LIHC_TCGA-DD-A1EG-01.png
exon_skip_498628_LIHC_TCGA-DD-A1EG-01.png
exon_skip_498631_LIHC_TCGA-DD-A1EG-01.png
exon_skip_499018_LIHC_TCGA-DD-A1EG-01.png
exon_skip_501551_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503330_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503777_LIHC_TCGA-DD-A1EG-01.png
exon_skip_504288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5044_LIHC_TCGA-DD-A1EG-01.png
exon_skip_506320_LIHC_TCGA-DD-A1EG-01.png
exon_skip_507513_LIHC_TCGA-DD-A1EG-01.png
exon_skip_508970_LIHC_TCGA-DD-A1EG-01.png
exon_skip_510119_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512244_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512530_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513207_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513240_LIHC_TCGA-DD-A1EG-01.png
exon_skip_514990_LIHC_TCGA-DD-A1EG-01.png
exon_skip_516934_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517296_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517308_LIHC_TCGA-DD-A1EG-01.png
exon_skip_52417_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54123_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_56470_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57633_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57892_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57897_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58035_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5818_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58444_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58894_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59424_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59654_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60187_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60189_LIHC_TCGA-DD-A1EG-01.png
exon_skip_62322_LIHC_TCGA-DD-A1EG-01.png
exon_skip_63747_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66185_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66376_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66813_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67402_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67594_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67918_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68407_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68411_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68522_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68768_LIHC_TCGA-DD-A1EG-01.png
exon_skip_69056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_70050_LIHC_TCGA-DD-A1EG-01.png
exon_skip_71400_LIHC_TCGA-DD-A1EG-01.png
exon_skip_77097_LIHC_TCGA-DD-A1EG-01.png
exon_skip_79815_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81531_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81532_LIHC_TCGA-DD-A1EG-01.png
exon_skip_822_LIHC_TCGA-DD-A1EG-01.png
exon_skip_82890_LIHC_TCGA-DD-A1EG-01.png
exon_skip_84090_LIHC_TCGA-DD-A1EG-01.png
exon_skip_86135_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87721_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93888_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93891_LIHC_TCGA-DD-A1EG-01.png
exon_skip_94866_LIHC_TCGA-DD-A1EG-01.png
exon_skip_96939_LIHC_TCGA-DD-A1EG-01.png
exon_skip_9694_LIHC_TCGA-DD-A1EG-01.png
exon_skip_97667_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98055_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_99140_LIHC_TCGA-DD-A1EG-01.png

- 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
HEC59_ENDOMETRIUM	5372253	5372680	5372496	5372496	Frame_Shift_Del	C	-	p.G1968fs
HEC151_ENDOMETRIUM	5391450	5391725	5391564	5391564	Frame_Shift_Del	G	-	p.R1786fs
SNUC4_LARGE_INTESTINE	5401225	5401353	5401259	5401259	Frame_Shift_Del	G	-	p.R1543fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	5401225	5401353	5401259	5401259	Frame_Shift_Del	G	-	p.R1543fs
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5430116	5430259	5430195	5430195	Frame_Shift_Del	G	-	p.P136fs
SNGM_ENDOMETRIUM	5391450	5391725	5391563	5391564	Frame_Shift_Ins	-	G	p.R1786fs
IGROV1_OVARY	5391450	5391725	5391563	5391564	Frame_Shift_Ins	-	G	p.R1786fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	5391450	5391725	5391563	5391564	Frame_Shift_Ins	-	G	p.R1786fs
HUO3N1_BONE	5391450	5391725	5391563	5391564	Frame_Shift_Ins	-	G	p.R1786fs
SNGM_ENDOMETRIUM	5401225	5401353	5401258	5401259	Frame_Shift_Ins	-	G	p.R1543fs
CL34_LARGE_INTESTINE	5401225	5401353	5401258	5401259	Frame_Shift_Ins	-	G	p.R1543fs
SNU1040_LARGE_INTESTINE	5401225	5401353	5401258	5401259	Frame_Shift_Ins	-	G	p.R1543fs
AN3CA_ENDOMETRIUM	5348763	5348999	5348777	5348777	Missense_Mutation	A	G	p.F2871L
SNU520_STOMACH	5348763	5348999	5348788	5348788	Missense_Mutation	G	A	p.P2867L
PSN1_PANCREAS	5348763	5348999	5348923	5348923	Missense_Mutation	C	A	p.G2822V
SNU1040_LARGE_INTESTINE	5348763	5348999	5348947	5348947	Missense_Mutation	C	T	p.R2814H
HEC1_ENDOMETRIUM	5348763	5348999	5348951	5348951	Missense_Mutation	C	T	p.V2813M
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5354615	5354779	5354669	5354669	Missense_Mutation	G	C	p.P2325A
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5354615	5354779	5354698	5354698	Missense_Mutation	T	C	p.K2315R
SNU1040_LARGE_INTESTINE	5372253	5372680	5372322	5372322	Missense_Mutation	G	C	p.C2026W
SNU1040_LARGE_INTESTINE	5372253	5372680	5372326	5372326	Missense_Mutation	C	T	p.R2025H
SISO_CERVIX	5372253	5372680	5372408	5372408	Missense_Mutation	G	A	p.R1998C
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5372253	5372680	5372408	5372408	Missense_Mutation	G	A	p.R1998C
LUDLU1_LUNG	5372253	5372680	5372429	5372429	Missense_Mutation	C	T	p.D1991N
MEWO_SKIN	5372253	5372680	5372447	5372447	Missense_Mutation	C	T	p.G1985R
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5372253	5372680	5372488	5372488	Missense_Mutation	G	A	p.A1971V
SNU1040_LARGE_INTESTINE	5372253	5372680	5372494	5372494	Missense_Mutation	C	T	p.R1969H
RKO_LARGE_INTESTINE	5372253	5372680	5372495	5372495	Missense_Mutation	G	A	p.R1969C
COV644_OVARY	5372253	5372680	5372549	5372549	Missense_Mutation	G	A	p.R1951C
HCC1569_BREAST	5372253	5372680	5372557	5372557	Missense_Mutation	G	A	p.P1948L
HEC6_ENDOMETRIUM	5372253	5372680	5372567	5372567	Missense_Mutation	C	T	p.A1945T
MDST8_LARGE_INTESTINE	5372253	5372680	5372567	5372567	Missense_Mutation	C	T	p.A1945T
TE9_OESOPHAGUS	5372253	5372680	5372601	5372601	Missense_Mutation	C	G	p.K1933N
HEC59_ENDOMETRIUM	5372253	5372680	5372629	5372629	Missense_Mutation	C	T	p.R1924Q
SNU46_UPPER_AERODIGESTIVE_TRACT	5372253	5372680	5372630	5372630	Missense_Mutation	G	A	p.R1924W
MFE319_ENDOMETRIUM	5372253	5372680	5372662	5372662	Missense_Mutation	G	A	p.T1913I
ACCMESO1_PLEURA	5391450	5391725	5391492	5391492	Missense_Mutation	G	A	p.R1810C
ES3_BONE	5391450	5391725	5391495	5391495	Missense_Mutation	C	T	p.A1809T
ASH3_THYROID	5391450	5391725	5391515	5391515	Missense_Mutation	A	G	p.L1802P
SNU1040_LARGE_INTESTINE	5391450	5391725	5391525	5391525	Missense_Mutation	G	A	p.P1799S
SNU119_OVARY	5391450	5391725	5391548	5391548	Missense_Mutation	T	A	p.K1791M
SNGM_ENDOMETRIUM	5391450	5391725	5391639	5391639	Missense_Mutation	G	T	p.L1761M
AGS_STOMACH	5391450	5391725	5391698	5391698	Missense_Mutation	A	T	p.F1741Y
HEC59_ENDOMETRIUM	5391450	5391725	5391705	5391705	Missense_Mutation	C	T	p.E1739K
EW24_BONE	5391450	5391725	5391718	5391718	Missense_Mutation	G	T	p.D1734E
NCIH650_LUNG	5399029	5399200	5399174	5399174	Missense_Mutation	G	A	p.S1563L
HEC59_ENDOMETRIUM	5401225	5401353	5401229	5401229	Missense_Mutation	C	T	p.G1553R
NCIH854_LUNG	5401225	5401353	5401249	5401249	Missense_Mutation	C	A	p.G1546V
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5401225	5401353	5401300	5401300	Missense_Mutation	G	A	p.P1529L
NCIH2110_LUNG	5410006	5410995	5410054	5410054	Missense_Mutation	T	G	p.S1391R
TC32_BONE	5410006	5410995	5410188	5410188	Missense_Mutation	G	A	p.A1346V
UPCISCC152_UPPER_AERODIGESTIVE_TRACT	5410006	5410995	5410232	5410232	Missense_Mutation	G	C	p.F1331L
SCC90_UPPER_AERODIGESTIVE_TRACT	5410006	5410995	5410232	5410232	Missense_Mutation	G	C	p.F1331L
LOVO_LARGE_INTESTINE	5410006	5410995	5410327	5410327	Missense_Mutation	C	T	p.A1300T
IGR37_SKIN	5410006	5410995	5410364	5410365	Missense_Mutation	GG	AA	p.S1287F
G361_SKIN	5410006	5410995	5410390	5410390	Missense_Mutation	G	C	p.L1279V
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5410006	5410995	5410417	5410417	Missense_Mutation	C	T	p.V1270M
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5410006	5410995	5410467	5410467	Missense_Mutation	G	A	p.T1253I
SNU175_LARGE_INTESTINE	5410006	5410995	5410504	5410504	Missense_Mutation	C	T	p.A1241T
PWR1E_PROSTATE	5410006	5410995	5410504	5410504	Missense_Mutation	C	T	p.A1241T
COLO829_SKIN	5410006	5410995	5410654	5410654	Missense_Mutation	T	G	p.S1191R
SNU1040_LARGE_INTESTINE	5410006	5410995	5410675	5410675	Missense_Mutation	C	T	p.A1184T
AU565_BREAST	5410006	5410995	5410887	5410887	Missense_Mutation	T	A	p.D1113V
HCT15_LARGE_INTESTINE	5410006	5410995	5410900	5410900	Missense_Mutation	C	T	p.G1109S
JL1_PLEURA	5410006	5410995	5410905	5410905	Missense_Mutation	G	A	p.A1107V
MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5416478	5416624	5416609	5416609	Missense_Mutation	G	C	p.S826C
SEKI_SKIN	5430116	5430259	5430146	5430146	Missense_Mutation	C	T	p.D153N
YAMATO_SOFT_TISSUE	5430116	5430259	5430146	5430146	Missense_Mutation	C	T	p.D153N
SNU503_LARGE_INTESTINE	5430116	5430259	5430146	5430146	Missense_Mutation	C	G	p.D153H
KYSE410_OESOPHAGUS	5430116	5430259	5430146	5430146	Missense_Mutation	C	T	p.D153N
HCC56_LARGE_INTESTINE	5430116	5430259	5430146	5430146	Missense_Mutation	C	T	p.D153N
GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5430116	5430259	5430176	5430176	Missense_Mutation	G	A	p.L143F
DM3_FIBROBLAST	5430116	5430259	5430191	5430191	Missense_Mutation	T	G	p.S138R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5430116	5430259	5430201	5430201	Missense_Mutation	C	G	p.E134D
BICR18_UPPER_AERODIGESTIVE_TRACT	5430116	5430259	5430201	5430201	Missense_Mutation	C	G	p.E134D
VMRCLCD_LUNG	5430116	5430259	5430209	5430209	Missense_Mutation	G	A	p.H132Y
JHC7_BONE	5434071	5434226	5434194	5434194	Missense_Mutation	C	T	p.G74R
22RV1_PROSTATE	5460691	5461120	5460798	5460798	Missense_Mutation	C	T	p.S27N
M059K_CENTRAL_NERVOUS_SYSTEM	5460691	5461120	5460826	5460826	Missense_Mutation	G	C	p.P18A
SW1271_LUNG	5460691	5461120	5460858	5460858	Missense_Mutation	C	A	p.G7V
MCC26_SKIN	5348763	5348999	5348864	5348864	Nonsense_Mutation	G	A	p.Q2842*
SCABER_URINARY_TRACT	5410006	5410995	5410120	5410120	Nonsense_Mutation	C	A	p.E1369*
HEC59_ENDOMETRIUM	5430116	5430259	5430122	5430122	Nonsense_Mutation	C	A	p.G161*
CHSA0108_BONE	5430116	5430259	5430258	5430258	Splice_Site	G	C	p.G115G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TNRC18

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 TNRC18

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TNRC18

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RelatedDrugs for TNRC18

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 TNRC18

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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Gene summary for TNRC18

Exon skipping events across known transcript of Ensembl for TNRC18 from UCSC genome browser

Gene isoform structures and expression levels for TNRC18

Exon skipping events with PSIs in TCGA for TNRC18

Exon skipping events with PSIs in GTEx for TNRC18

Open reading frame (ORF) annotation in the exon skipping event for TNRC18

Infer the effects of exon skipping event on protein functional features for TNRC18

SNVs in the skipped exons for TNRC18

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TNRC18

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TNRC18

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TNRC18

RelatedDrugs for TNRC18

RelatedDiseases for TNRC18