ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SCEL

Gene summary

Gene information	Gene symbol	SCEL
	Gene ID	8796
	Gene name	sciellin
	Synonyms	-
	Cytomap	13q22.3
	Type of gene	protein-coding
	Description	sciellin
	Modification date	20180519
	UniProtAcc	O95171
	Context	PubMed: SCEL [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
SCEL	GO:0030216	keratinocyte differentiation	14632196

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Exon skipping events across known transcript of Ensembl for SCEL 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 SCEL

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 SCEL

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_100837	13	78137965:78138034:78141814:78141883:78142429:78142453	78141814:78141883	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3,ENST00000377246.3
exon_skip_100842	13	78137965:78138034:78142429:78142468:78143505:78143586	78142429:78142468	ENSG00000136155.12	ENST00000471491.1
exon_skip_100846	13	78141814:78141883:78142429:78142468:78143505:78143586	78142429:78142468	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3,ENST00000377246.3
exon_skip_100848	13	78143505:78143586:78146258:78146324:78163278:78163359	78146258:78146324	ENSG00000136155.12	ENST00000471491.1,ENST00000349847.3,ENST00000377246.3
exon_skip_100853	13	78163278:78163359:78165529:78165595:78167648:78167708	78165529:78165595	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3
exon_skip_100854	13	78163278:78163359:78165529:78165595:78171679:78171724	78165529:78165595	ENSG00000136155.12	ENST00000471491.1,ENST00000377246.3
exon_skip_100856	13	78165529:78165595:78167648:78167708:78171679:78171724	78167648:78167708	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3
exon_skip_100857	13	78167648:78167708:78171679:78171724:78173463:78173523	78171679:78171724	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3
exon_skip_100859	13	78171684:78171724:78173463:78173523:78173823:78173883	78173463:78173523	ENSG00000136155.12	ENST00000535157.1,ENST00000471491.1,ENST00000349847.3,ENST00000377246.3
exon_skip_100862	13	78176199:78176259:78176788:78176848:78177210:78177270	78176788:78176848	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3,ENST00000377246.3
exon_skip_100869	13	78177213:78177270:78178490:78178550:78182190:78182250	78178490:78178550	ENSG00000136155.12	ENST00000471491.1,ENST00000349847.3,ENST00000377246.3
exon_skip_100873	13	78177213:78177270:78182190:78182250:78183192:78183252	78182190:78182250	ENSG00000136155.12	ENST00000535157.1
exon_skip_100874	13	78178491:78178550:78182190:78182250:78183192:78183252	78182190:78182250	ENSG00000136155.12	ENST00000471491.1,ENST00000349847.3,ENST00000377246.3
exon_skip_100878	13	78187025:78187076:78188027:78188090:78191733:78191776	78188027:78188090	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3,ENST00000469982.1,ENST00000377246.3
exon_skip_100883	13	78188030:78188090:78191733:78191793:78191937:78191997	78191733:78191793	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3,ENST00000377246.3
exon_skip_100890	13	78191733:78191793:78191937:78191997:78192138:78192195	78191937:78191997	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3,ENST00000377246.3
exon_skip_100894	13	78191937:78191997:78192138:78192195:78202081:78202144	78192138:78192195	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3,ENST00000377246.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SCEL

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_100837	13	78137965:78138034:78141814:78141883:78142429:78142453	78141814:78141883	ENSG00000136155.12	ENST00000535157.1,ENST00000377246.3,ENST00000349847.3
exon_skip_100842	13	78137965:78138034:78142429:78142468:78143505:78143586	78142429:78142468	ENSG00000136155.12	ENST00000471491.1
exon_skip_100846	13	78141814:78141883:78142429:78142468:78143505:78143586	78142429:78142468	ENSG00000136155.12	ENST00000535157.1,ENST00000377246.3,ENST00000349847.3
exon_skip_100848	13	78143505:78143586:78146258:78146324:78163278:78163359	78146258:78146324	ENSG00000136155.12	ENST00000471491.1,ENST00000377246.3,ENST00000349847.3
exon_skip_100853	13	78163278:78163359:78165529:78165595:78167648:78167708	78165529:78165595	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3
exon_skip_100854	13	78163278:78163359:78165529:78165595:78171679:78171724	78165529:78165595	ENSG00000136155.12	ENST00000471491.1,ENST00000377246.3
exon_skip_100856	13	78165529:78165595:78167648:78167708:78171679:78171724	78167648:78167708	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3
exon_skip_100857	13	78167648:78167708:78171679:78171724:78173463:78173523	78171679:78171724	ENSG00000136155.12	ENST00000535157.1,ENST00000349847.3
exon_skip_100859	13	78171684:78171724:78173463:78173523:78173823:78173883	78173463:78173523	ENSG00000136155.12	ENST00000535157.1,ENST00000471491.1,ENST00000377246.3,ENST00000349847.3
exon_skip_100862	13	78176199:78176259:78176788:78176848:78177210:78177270	78176788:78176848	ENSG00000136155.12	ENST00000535157.1,ENST00000377246.3,ENST00000349847.3
exon_skip_100869	13	78177213:78177270:78178490:78178550:78182190:78182250	78178490:78178550	ENSG00000136155.12	ENST00000471491.1,ENST00000377246.3,ENST00000349847.3
exon_skip_100873	13	78177213:78177270:78182190:78182250:78183192:78183252	78182190:78182250	ENSG00000136155.12	ENST00000535157.1
exon_skip_100874	13	78178491:78178550:78182190:78182250:78183192:78183252	78182190:78182250	ENSG00000136155.12	ENST00000471491.1,ENST00000377246.3,ENST00000349847.3
exon_skip_100878	13	78187025:78187076:78188027:78188090:78191733:78191776	78188027:78188090	ENSG00000136155.12	ENST00000535157.1,ENST00000377246.3,ENST00000349847.3,ENST00000469982.1
exon_skip_100883	13	78188030:78188090:78191733:78191793:78191937:78191997	78191733:78191793	ENSG00000136155.12	ENST00000535157.1,ENST00000377246.3,ENST00000349847.3
exon_skip_100890	13	78191733:78191793:78191937:78191997:78192138:78192195	78191937:78191997	ENSG00000136155.12	ENST00000535157.1,ENST00000377246.3,ENST00000349847.3
exon_skip_100894	13	78191937:78191997:78192138:78192195:78202081:78202144	78192138:78192195	ENSG00000136155.12	ENST00000535157.1,ENST00000377246.3,ENST00000349847.3

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 SCEL

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
ENST00000349847	78141814	78141883	In-frame
ENST00000349847	78142429	78142468	In-frame
ENST00000349847	78146258	78146324	In-frame
ENST00000349847	78165529	78165595	In-frame
ENST00000349847	78167648	78167708	In-frame
ENST00000349847	78171679	78171724	In-frame
ENST00000349847	78173463	78173523	In-frame
ENST00000349847	78176788	78176848	In-frame
ENST00000349847	78178490	78178550	In-frame
ENST00000349847	78182190	78182250	In-frame
ENST00000349847	78188027	78188090	In-frame
ENST00000349847	78191733	78191793	In-frame
ENST00000349847	78191937	78191997	In-frame
ENST00000349847	78192138	78192195	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
ENST00000349847	78141814	78141883	In-frame
ENST00000349847	78142429	78142468	In-frame
ENST00000349847	78146258	78146324	In-frame
ENST00000349847	78165529	78165595	In-frame
ENST00000349847	78167648	78167708	In-frame
ENST00000349847	78171679	78171724	In-frame
ENST00000349847	78173463	78173523	In-frame
ENST00000349847	78176788	78176848	In-frame
ENST00000349847	78178490	78178550	In-frame
ENST00000349847	78182190	78182250	In-frame
ENST00000349847	78188027	78188090	In-frame
ENST00000349847	78191733	78191793	In-frame
ENST00000349847	78191937	78191997	In-frame
ENST00000349847	78192138	78192195	In-frame

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

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
ENST00000349847	2403	688	78141814	78141883	375	443	97	119
ENST00000349847	2403	688	78142429	78142468	444	482	120	132
ENST00000349847	2403	688	78146258	78146324	564	629	160	181
ENST00000349847	2403	688	78165529	78165595	711	776	209	230
ENST00000349847	2403	688	78167648	78167708	777	836	231	250
ENST00000349847	2403	688	78171679	78171724	837	881	251	265
ENST00000349847	2403	688	78173463	78173523	882	941	266	285
ENST00000349847	2403	688	78176788	78176848	1062	1121	326	345
ENST00000349847	2403	688	78178490	78178550	1182	1241	366	385
ENST00000349847	2403	688	78182190	78182250	1242	1301	386	405
ENST00000349847	2403	688	78188027	78188090	1473	1535	463	483
ENST00000349847	2403	688	78191733	78191793	1536	1595	484	503
ENST00000349847	2403	688	78191937	78191997	1596	1655	504	523
ENST00000349847	2403	688	78192138	78192195	1656	1712	524	542

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
ENST00000349847	2403	688	78141814	78141883	375	443	97	119
ENST00000349847	2403	688	78142429	78142468	444	482	120	132
ENST00000349847	2403	688	78146258	78146324	564	629	160	181
ENST00000349847	2403	688	78165529	78165595	711	776	209	230
ENST00000349847	2403	688	78167648	78167708	777	836	231	250
ENST00000349847	2403	688	78171679	78171724	837	881	251	265
ENST00000349847	2403	688	78173463	78173523	882	941	266	285
ENST00000349847	2403	688	78176788	78176848	1062	1121	326	345
ENST00000349847	2403	688	78178490	78178550	1182	1241	366	385
ENST00000349847	2403	688	78182190	78182250	1242	1301	386	405
ENST00000349847	2403	688	78188027	78188090	1473	1535	463	483
ENST00000349847	2403	688	78191733	78191793	1536	1595	484	503
ENST00000349847	2403	688	78191937	78191997	1596	1655	504	523
ENST00000349847	2403	688	78192138	78192195	1656	1712	524	542

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
O95171	97	119	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	120	132	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	120	132	124	124	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95171	160	181	160	181	Alternative sequence	ID=VSP_045288;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95171	160	181	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	209	230	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	231	250	231	251	Alternative sequence	ID=VSP_035980;Note=In isoform 2. RSQDLDNIVKVATSLQRSDKG->S;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9813070;Dbxref=PMID:15489334,PMID:9813070
O95171	231	250	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	251	265	231	251	Alternative sequence	ID=VSP_035980;Note=In isoform 2. RSQDLDNIVKVATSLQRSDKG->S;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9813070;Dbxref=PMID:15489334,PMID:9813070
O95171	251	265	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	251	265	251	563	Region	Note=16 X approximate tandem repeats
O95171	251	265	251	266	Repeat	Note=1
O95171	266	285	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	266	285	251	563	Region	Note=16 X approximate tandem repeats
O95171	266	285	251	266	Repeat	Note=1
O95171	266	285	267	286	Repeat	Note=2
O95171	326	345	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	326	345	336	336	Natural variant	ID=VAR_047920;Note=V->L;Dbxref=dbSNP:rs34164479
O95171	326	345	251	563	Region	Note=16 X approximate tandem repeats
O95171	326	345	307	326	Repeat	Note=4
O95171	326	345	327	346	Repeat	Note=5
O95171	326	345	337	337	Sequence conflict	Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95171	326	345	340	340	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95171	366	385	367	386	Alternative sequence	ID=VSP_045289;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95171	366	385	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	366	385	251	563	Region	Note=16 X approximate tandem repeats
O95171	366	385	347	366	Repeat	Note=6
O95171	366	385	367	386	Repeat	Note=7
O95171	386	405	367	386	Alternative sequence	ID=VSP_045289;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95171	386	405	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	386	405	389	389	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9EQG3
O95171	386	405	386	386	Natural variant	ID=VAR_047921;Note=R->K;Dbxref=dbSNP:rs2274016
O95171	386	405	251	563	Region	Note=16 X approximate tandem repeats
O95171	386	405	367	386	Repeat	Note=7
O95171	386	405	387	406	Repeat	Note=8
O95171	463	483	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	463	483	480	480	Natural variant	ID=VAR_047922;Note=K->R;Dbxref=dbSNP:rs8002725
O95171	463	483	251	563	Region	Note=16 X approximate tandem repeats
O95171	463	483	447	465	Repeat	Note=11
O95171	463	483	466	484	Repeat	Note=12
O95171	484	503	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	484	503	251	563	Region	Note=16 X approximate tandem repeats
O95171	484	503	466	484	Repeat	Note=12
O95171	484	503	485	504	Repeat	Note=13
O95171	504	523	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	504	523	251	563	Region	Note=16 X approximate tandem repeats
O95171	504	523	485	504	Repeat	Note=13
O95171	504	523	505	523	Repeat	Note=14
O95171	524	542	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	524	542	251	563	Region	Note=16 X approximate tandem repeats
O95171	524	542	524	543	Repeat	Note=15

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
O95171	97	119	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	120	132	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	120	132	124	124	Sequence conflict	Note=M->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95171	160	181	160	181	Alternative sequence	ID=VSP_045288;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95171	160	181	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	209	230	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	231	250	231	251	Alternative sequence	ID=VSP_035980;Note=In isoform 2. RSQDLDNIVKVATSLQRSDKG->S;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9813070;Dbxref=PMID:15489334,PMID:9813070
O95171	231	250	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	251	265	231	251	Alternative sequence	ID=VSP_035980;Note=In isoform 2. RSQDLDNIVKVATSLQRSDKG->S;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9813070;Dbxref=PMID:15489334,PMID:9813070
O95171	251	265	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	251	265	251	563	Region	Note=16 X approximate tandem repeats
O95171	251	265	251	266	Repeat	Note=1
O95171	266	285	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	266	285	251	563	Region	Note=16 X approximate tandem repeats
O95171	266	285	251	266	Repeat	Note=1
O95171	266	285	267	286	Repeat	Note=2
O95171	326	345	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	326	345	336	336	Natural variant	ID=VAR_047920;Note=V->L;Dbxref=dbSNP:rs34164479
O95171	326	345	251	563	Region	Note=16 X approximate tandem repeats
O95171	326	345	307	326	Repeat	Note=4
O95171	326	345	327	346	Repeat	Note=5
O95171	326	345	337	337	Sequence conflict	Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95171	326	345	340	340	Sequence conflict	Note=M->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
O95171	366	385	367	386	Alternative sequence	ID=VSP_045289;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95171	366	385	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	366	385	251	563	Region	Note=16 X approximate tandem repeats
O95171	366	385	347	366	Repeat	Note=6
O95171	366	385	367	386	Repeat	Note=7
O95171	386	405	367	386	Alternative sequence	ID=VSP_045289;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
O95171	386	405	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	386	405	389	389	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9EQG3
O95171	386	405	386	386	Natural variant	ID=VAR_047921;Note=R->K;Dbxref=dbSNP:rs2274016
O95171	386	405	251	563	Region	Note=16 X approximate tandem repeats
O95171	386	405	367	386	Repeat	Note=7
O95171	386	405	387	406	Repeat	Note=8
O95171	463	483	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	463	483	480	480	Natural variant	ID=VAR_047922;Note=K->R;Dbxref=dbSNP:rs8002725
O95171	463	483	251	563	Region	Note=16 X approximate tandem repeats
O95171	463	483	447	465	Repeat	Note=11
O95171	463	483	466	484	Repeat	Note=12
O95171	484	503	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	484	503	251	563	Region	Note=16 X approximate tandem repeats
O95171	484	503	466	484	Repeat	Note=12
O95171	484	503	485	504	Repeat	Note=13
O95171	504	523	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	504	523	251	563	Region	Note=16 X approximate tandem repeats
O95171	504	523	485	504	Repeat	Note=13
O95171	504	523	505	523	Repeat	Note=14
O95171	524	542	1	688	Chain	ID=PRO_0000075903;Note=Sciellin
O95171	524	542	251	563	Region	Note=16 X approximate tandem repeats
O95171	524	542	524	543	Repeat	Note=15

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SNVs in the skipped exons for SCEL

- 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.

SCEL_HNSC_exon_skip_100856_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-A39Y-01	exon_skip_100853 exon_skip_100854	78165530	78165595	78165546	78165546	Frame_Shift_Del	A	-	p.K193fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_100878	78188028	78188090	78188077	78188077	Frame_Shift_Del	A	-	p.K438fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_100878	78188028	78188090	78188077	78188077	Frame_Shift_Del	A	-	p.V479fs
LIHC	TCGA-DD-A39Y-01	exon_skip_100883	78191734	78191793	78191775	78191775	Frame_Shift_Del	T	-	p.I456fs
UCEC	TCGA-AX-A05Z-01	exon_skip_100853 exon_skip_100854	78165530	78165595	78165564	78165564	Nonsense_Mutation	G	T	p.E221*
HNSC	TCGA-CN-A63T-01	exon_skip_100856	78167649	78167708	78167687	78167687	Nonsense_Mutation	C	A	p.S222*
UCEC	TCGA-AP-A056-01	exon_skip_100857	78171680	78171724	78171684	78171684	Nonsense_Mutation	G	T	p.E253*
ESCA	TCGA-IG-A3YA-01	exon_skip_100878	78188028	78188090	78188089	78188089	Nonsense_Mutation	G	T	p.G484X
SKCM	TCGA-EE-A29M-06	exon_skip_100883	78191734	78191793	78191759	78191759	Nonsense_Mutation	A	T	p.K451*
ESCA	TCGA-LN-A49M-01	exon_skip_100890	78191938	78191997	78191993	78191993	Nonsense_Mutation	C	T	p.Q481*
ESCA	TCGA-LN-A49M-01	exon_skip_100890	78191938	78191997	78191993	78191993	Nonsense_Mutation	C	T	p.Q523*
ESCA	TCGA-LN-A49M-01	exon_skip_100890	78191938	78191997	78191993	78191993	Nonsense_Mutation	C	T	p.Q523X
UCEC	TCGA-AX-A05Z-01	exon_skip_100883	78191734	78191793	78191733	78191733	Splice_Site	G	A	e24-1
LUSC	TCGA-60-2713-01	exon_skip_100894	78192139	78192195	78192138	78192138	Splice_Site	G	A	p.S524_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-60-2713-01
	Cancer type: LUSC
	ESID: exon_skip_100894
	Skipped exon start: 78192139
	Skipped exon end: 78192195
	Mutation start: 78192138
	Mutation end: 78192138
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: p.S524_splice
exon_skip_100894_LUSC_TCGA-60-2713-01.png
exon_skip_286384_LUSC_TCGA-60-2713-01.png
exon_skip_376191_LUSC_TCGA-60-2713-01.png
exon_skip_388639_LUSC_TCGA-60-2713-01.png
	Sample: TCGA-CN-A63T-01
	Cancer type: HNSC
	ESID: exon_skip_100856
	Skipped exon start: 78167649
	Skipped exon end: 78167708
	Mutation start: 78167687
	Mutation end: 78167687
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.S222*
exon_skip_100856_HNSC_TCGA-CN-A63T-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
KNS60_CENTRAL_NERVOUS_SYSTEM	78146259	78146324	78146282	78146282	Missense_Mutation	C	A	p.P168H
NMCG1_CENTRAL_NERVOUS_SYSTEM	78165530	78165595	78165536	78165536	Missense_Mutation	A	G	p.I211M
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	78173464	78173523	78173510	78173510	Missense_Mutation	G	C	p.E282Q
SNU503_LARGE_INTESTINE	78176789	78176848	78176827	78176827	Missense_Mutation	G	T	p.R339M
SNU620_STOMACH	78182191	78182250	78182220	78182220	Missense_Mutation	T	A	p.V396E
JHH1_LIVER	78188028	78188090	78188051	78188051	Missense_Mutation	A	G	p.H471R
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	78188028	78188090	78188054	78188054	Missense_Mutation	T	A	p.I472N
NCIH1417_LUNG	78188028	78188090	78188082	78188082	Missense_Mutation	C	A	p.N481K
OMC1_CERVIX	78191938	78191997	78191993	78191993	Missense_Mutation	C	G	p.Q523E
TE9_OESOPHAGUS	78191938	78191997	78191993	78191993	Missense_Mutation	C	G	p.Q523E
SNU719_STOMACH	78192139	78192195	78192156	78192156	Missense_Mutation	T	C	p.L530P
SW900_LUNG	78191734	78191793	78191759	78191759	Nonsense_Mutation	A	T	p.K493*
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	78146259	78146324	78146259	78146259	Splice_Site	G	A	p.R160R
DIFI_LARGE_INTESTINE	78146259	78146324	78146323	78146323	Splice_Site	C	T	p.R182W
SNU1040_LARGE_INTESTINE	78146259	78146324	78146324	78146324	Splice_Site	G	A	p.R182Q
LOVO_LARGE_INTESTINE	78171680	78171724	78171680	78171680	Splice_Site	T	G	p.G251G
LOVO_LARGE_INTESTINE	78176789	78176848	78176848	78176848	Splice_Site	G	A	p.R346K
HEC151_ENDOMETRIUM	78178491	78178550	78178491	78178491	Splice_Site	A	-	p.G366fs
MDAPCA2B_PROSTATE	78178491	78178550	78178491	78178491	Splice_Site	A	-	p.G366fs

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

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_100878	13	78187025:78187076:78188027:78188090:78191733:78191776	78188027:78188090	ENST00000535157.1,ENST00000349847.3,ENST00000469982.1,ENST00000377246.3	LUAD	rs8002725	chr13:78188078	A/G	1.25e-06

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

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

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RelatedDrugs for SCEL

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 SCEL

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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