ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for COL17A1

Gene summary

Gene information	Gene symbol	COL17A1
	Gene ID	1308
	Gene name	collagen type XVII alpha 1 chain
	Synonyms	BA16H23.2\|BP180\|BPA-2\|BPAG2\|ERED\|LAD-1
	Cytomap	10q25.1
	Type of gene	protein-coding
	Description	collagen alpha-1(XVII) chain180 kDa bullous pemphigoid antigen 2alpha 1 type XVII collagenbA16H23.2 (collagen, type XVII, alpha 1 (BP180))bullous pemphigoid antigen 2 (180kD)collagen XVII, alpha-1 polypeptidecollagen, type XVII, alpha 1type XVII co
	Modification date	20180523
	UniProtAcc	Q9UMD9
	Context	PubMed: COL17A1 [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
COL17A1	GO:0031581	hemidesmosome assembly	12482924

Top

Exon skipping events across known transcript of Ensembl for COL17A1 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.

Top

Gene isoform structures and expression levels for COL17A1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for COL17A1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_53954	10	105791045:105791351:105791961:105792048:105792431:105792512	105791961:105792048	ENSG00000065618.12	ENST00000433822.1
exon_skip_53957	10	105791961:105792048:105792431:105792512:105792663:105792726	105792431:105792512	ENSG00000065618.12	ENST00000369733.3,ENST00000433822.1,ENST00000353479.5
exon_skip_53960	10	105794378:105794525:105795020:105795131:105795231:105795321	105795020:105795131	ENSG00000065618.12	ENST00000353479.5
exon_skip_53961	10	105795020:105795131:105795231:105795321:105796249:105796390	105795231:105795321	ENSG00000065618.12	ENST00000353479.5
exon_skip_53962	10	105795231:105795321:105796249:105796390:105796802:105796871	105796249:105796390	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53963	10	105796802:105796871:105797393:105797531:105798163:105798286	105797393:105797531	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53965	10	105798163:105798286:105798828:105798879:105799202:105799277	105798828:105798879	ENSG00000065618.12	ENST00000353479.5
exon_skip_53968	10	105799211:105799277:105799365:105799398:105799730:105799757	105799365:105799398	ENSG00000065618.12	ENST00000353479.5
exon_skip_53969	10	105799730:105799757:105800108:105800168:105800822:105800876	105800108:105800168	ENSG00000065618.12	ENST00000353479.5
exon_skip_53972	10	105800108:105800168:105800822:105800876:105801060:105801102	105800822:105800876	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53974	10	105803258:105803339:105803582:105803618:105805515:105805551	105803582:105803618	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53975	10	105803582:105803618:105805515:105805551:105806504:105806531	105805515:105805551	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53976	10	105807496:105807568:105807826:105807862:105809166:105809229	105807826:105807862	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53978	10	105811912:105811975:105812788:105812893:105813677:105813740	105812788:105812893	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53979	10	105812788:105812893:105813677:105813740:105813849:105813876	105813677:105813740	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53980	10	105815539:105815761:105816732:105816930:105817903:105817945	105816732:105816930	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53985	10	105816732:105816930:105817903:105817948:105819395:105819476	105817903:105817948	ENSG00000065618.12	ENST00000369733.3,ENST00000353479.5
exon_skip_53986	10	105819876:105820038:105821162:105821231:105822015:105822087	105821162:105821231	ENSG00000065618.12	ENST00000369733.3,ENST00000488320.1,ENST00000393211.3,ENST00000353479.5
exon_skip_53988	10	105821162:105821231:105822015:105822087:105823504:105823576	105822015:105822087	ENSG00000065618.12	ENST00000369733.3,ENST00000393211.3,ENST00000353479.5
exon_skip_53990	10	105822015:105822087:105823295:105823401:105823504:105823576	105823295:105823401	ENSG00000065618.12	ENST00000488320.1
exon_skip_53993	10	105823504:105823576:105824195:105824354:105830183:105830327	105824195:105824354	ENSG00000065618.12	ENST00000369733.3,ENST00000393211.3,ENST00000353479.5
exon_skip_53995	10	105832967:105833003:105833708:105833777:105833941:105833989	105833708:105833777	ENSG00000065618.12	ENST00000483876.1
exon_skip_53996	10	105832967:105833003:105833941:105833989:105836058:105836106	105833941:105833989	ENSG00000065618.12	ENST00000369733.3,ENST00000393211.3,ENST00000353479.5
exon_skip_53998	10	105833941:105833989:105836058:105836187:105837179:105837281	105836058:105836187	ENSG00000065618.12	ENST00000369733.3,ENST00000483876.1,ENST00000393211.3,ENST00000353479.5
exon_skip_54000	10	105836058:105836187:105837179:105837284:105838299:105838344	105837179:105837284	ENSG00000065618.12	ENST00000369733.3,ENST00000483876.1,ENST00000393211.3,ENST00000353479.5
exon_skip_54003	10	105837179:105837284:105838299:105838344:105840379:105840412	105838299:105838344	ENSG00000065618.12	ENST00000369733.3,ENST00000483876.1,ENST00000393211.3,ENST00000353479.5

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for COL17A1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_53954	10	105791045:105791351:105791961:105792048:105792431:105792512	105791961:105792048	ENSG00000065618.12	ENST00000433822.1
exon_skip_53957	10	105791961:105792048:105792431:105792512:105792663:105792726	105792431:105792512	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3,ENST00000433822.1
exon_skip_53960	10	105794378:105794525:105795020:105795131:105795231:105795321	105795020:105795131	ENSG00000065618.12	ENST00000353479.5
exon_skip_53961	10	105795020:105795131:105795231:105795321:105796249:105796390	105795231:105795321	ENSG00000065618.12	ENST00000353479.5
exon_skip_53962	10	105795231:105795321:105796249:105796390:105796802:105796871	105796249:105796390	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53963	10	105796802:105796871:105797393:105797531:105798163:105798286	105797393:105797531	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53965	10	105798163:105798286:105798828:105798879:105799202:105799277	105798828:105798879	ENSG00000065618.12	ENST00000353479.5
exon_skip_53968	10	105799211:105799277:105799365:105799398:105799730:105799757	105799365:105799398	ENSG00000065618.12	ENST00000353479.5
exon_skip_53969	10	105799730:105799757:105800108:105800168:105800822:105800876	105800108:105800168	ENSG00000065618.12	ENST00000353479.5
exon_skip_53972	10	105800108:105800168:105800822:105800876:105801060:105801102	105800822:105800876	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53974	10	105803258:105803339:105803582:105803618:105805515:105805551	105803582:105803618	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53975	10	105803582:105803618:105805515:105805551:105806504:105806531	105805515:105805551	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53976	10	105807496:105807568:105807826:105807862:105809166:105809229	105807826:105807862	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53978	10	105811912:105811975:105812788:105812893:105813677:105813740	105812788:105812893	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53979	10	105812788:105812893:105813677:105813740:105813849:105813876	105813677:105813740	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53980	10	105815539:105815761:105816732:105816930:105817903:105817945	105816732:105816930	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53985	10	105816732:105816930:105817903:105817948:105819395:105819476	105817903:105817948	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3
exon_skip_53986	10	105819876:105820038:105821162:105821231:105822015:105822087	105821162:105821231	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3,ENST00000393211.3,ENST00000488320.1
exon_skip_53988	10	105821162:105821231:105822015:105822087:105823504:105823576	105822015:105822087	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3,ENST00000393211.3
exon_skip_53990	10	105822015:105822087:105823295:105823401:105823504:105823576	105823295:105823401	ENSG00000065618.12	ENST00000488320.1
exon_skip_53993	10	105823504:105823576:105824195:105824354:105830183:105830327	105824195:105824354	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3,ENST00000393211.3
exon_skip_53995	10	105832967:105833003:105833708:105833777:105833941:105833989	105833708:105833777	ENSG00000065618.12	ENST00000483876.1
exon_skip_53996	10	105832967:105833003:105833941:105833989:105836058:105836106	105833941:105833989	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3,ENST00000393211.3
exon_skip_53998	10	105833941:105833989:105836058:105836187:105837179:105837281	105836058:105836187	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3,ENST00000393211.3,ENST00000483876.1
exon_skip_54000	10	105836058:105836187:105837179:105837284:105838299:105838344	105837179:105837284	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3,ENST00000393211.3,ENST00000483876.1
exon_skip_54003	10	105837179:105837284:105838299:105838344:105840379:105840412	105838299:105838344	ENSG00000065618.12	ENST00000353479.5,ENST00000369733.3,ENST00000393211.3,ENST00000483876.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for COL17A1

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
ENST00000353479	105792431	105792512	In-frame
ENST00000353479	105795020	105795131	In-frame
ENST00000353479	105795231	105795321	In-frame
ENST00000353479	105796249	105796390	In-frame
ENST00000353479	105797393	105797531	In-frame
ENST00000353479	105798828	105798879	In-frame
ENST00000353479	105799365	105799398	In-frame
ENST00000353479	105800108	105800168	In-frame
ENST00000353479	105800822	105800876	In-frame
ENST00000353479	105803582	105803618	In-frame
ENST00000353479	105805515	105805551	In-frame
ENST00000353479	105807826	105807862	In-frame
ENST00000353479	105812788	105812893	In-frame
ENST00000353479	105813677	105813740	In-frame
ENST00000353479	105816732	105816930	In-frame
ENST00000353479	105817903	105817948	In-frame
ENST00000353479	105821162	105821231	In-frame
ENST00000353479	105822015	105822087	In-frame
ENST00000353479	105824195	105824354	In-frame
ENST00000353479	105833941	105833989	In-frame
ENST00000353479	105836058	105836187	In-frame
ENST00000353479	105837179	105837284	In-frame
ENST00000353479	105838299	105838344	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
ENST00000353479	105792431	105792512	In-frame
ENST00000353479	105795020	105795131	In-frame
ENST00000353479	105795231	105795321	In-frame
ENST00000353479	105796249	105796390	In-frame
ENST00000353479	105797393	105797531	In-frame
ENST00000353479	105798828	105798879	In-frame
ENST00000353479	105799365	105799398	In-frame
ENST00000353479	105800108	105800168	In-frame
ENST00000353479	105800822	105800876	In-frame
ENST00000353479	105803582	105803618	In-frame
ENST00000353479	105805515	105805551	In-frame
ENST00000353479	105807826	105807862	In-frame
ENST00000353479	105812788	105812893	In-frame
ENST00000353479	105813677	105813740	In-frame
ENST00000353479	105816732	105816930	In-frame
ENST00000353479	105817903	105817948	In-frame
ENST00000353479	105821162	105821231	In-frame
ENST00000353479	105822015	105822087	In-frame
ENST00000353479	105824195	105824354	In-frame
ENST00000353479	105833941	105833989	In-frame
ENST00000353479	105836058	105836187	In-frame
ENST00000353479	105837179	105837284	In-frame
ENST00000353479	105838299	105838344	In-frame

Top

Infer the effects of exon skipping event on protein functional features for COL17A1

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
ENST00000353479	5751	1497	105838299	105838344	344	388	17	32
ENST00000353479	5751	1497	105837179	105837284	389	493	32	67
ENST00000353479	5751	1497	105836058	105836187	494	622	67	110
ENST00000353479	5751	1497	105833941	105833989	623	670	110	126
ENST00000353479	5751	1497	105824195	105824354	899	1057	202	255
ENST00000353479	5751	1497	105822015	105822087	1130	1201	279	303
ENST00000353479	5751	1497	105821162	105821231	1202	1270	303	326
ENST00000353479	5751	1497	105817903	105817948	1514	1558	407	422
ENST00000353479	5751	1497	105813677	105813740	2063	2125	590	611
ENST00000353479	5751	1497	105812788	105812893	2126	2230	611	646
ENST00000353479	5751	1497	105807826	105807862	2519	2554	742	754
ENST00000353479	5751	1497	105805515	105805551	2654	2689	787	799
ENST00000353479	5751	1497	105803582	105803618	2690	2725	799	811
ENST00000353479	5751	1497	105800822	105800876	2939	2992	882	900
ENST00000353479	5751	1497	105800108	105800168	2993	3052	900	920
ENST00000353479	5751	1497	105799365	105799398	3080	3112	929	940
ENST00000353479	5751	1497	105798828	105798879	3188	3238	965	982
ENST00000353479	5751	1497	105797393	105797531	3362	3499	1023	1069
ENST00000353479	5751	1497	105796249	105796390	3569	3709	1092	1139
ENST00000353479	5751	1497	105795231	105795321	3710	3799	1139	1169
ENST00000353479	5751	1497	105795020	105795131	3800	3910	1169	1206
ENST00000353479	5751	1497	105792431	105792512	4649	4729	1452	1479

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
ENST00000353479	5751	1497	105838299	105838344	344	388	17	32
ENST00000353479	5751	1497	105837179	105837284	389	493	32	67
ENST00000353479	5751	1497	105836058	105836187	494	622	67	110
ENST00000353479	5751	1497	105833941	105833989	623	670	110	126
ENST00000353479	5751	1497	105824195	105824354	899	1057	202	255
ENST00000353479	5751	1497	105822015	105822087	1130	1201	279	303
ENST00000353479	5751	1497	105821162	105821231	1202	1270	303	326
ENST00000353479	5751	1497	105817903	105817948	1514	1558	407	422
ENST00000353479	5751	1497	105813677	105813740	2063	2125	590	611
ENST00000353479	5751	1497	105812788	105812893	2126	2230	611	646
ENST00000353479	5751	1497	105807826	105807862	2519	2554	742	754
ENST00000353479	5751	1497	105805515	105805551	2654	2689	787	799
ENST00000353479	5751	1497	105803582	105803618	2690	2725	799	811
ENST00000353479	5751	1497	105800822	105800876	2939	2992	882	900
ENST00000353479	5751	1497	105800108	105800168	2993	3052	900	920
ENST00000353479	5751	1497	105799365	105799398	3080	3112	929	940
ENST00000353479	5751	1497	105798828	105798879	3188	3238	965	982
ENST00000353479	5751	1497	105797393	105797531	3362	3499	1023	1069
ENST00000353479	5751	1497	105796249	105796390	3569	3709	1092	1139
ENST00000353479	5751	1497	105795231	105795321	3710	3799	1139	1169
ENST00000353479	5751	1497	105795020	105795131	3800	3910	1169	1206
ENST00000353479	5751	1497	105792431	105792512	4649	4729	1452	1479

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
Q9UMD9	17	32	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	17	32	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	17	32	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	32	67	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	32	67	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	32	67	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	67	110	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	67	110	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	67	110	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	110	126	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	110	126	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	110	126	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	202	255	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	202	255	210	210	Natural variant	ID=VAR_017593;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs805708,PMID:15489334
Q9UMD9	202	255	231	231	Natural variant	ID=VAR_017594;Note=M->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11912005,ECO:0000269\|PubMed:9012408;Dbxref=dbSNP:rs1054113,PMID:11912005,PMID:9012408
Q9UMD9	202	255	238	238	Natural variant	ID=VAR_017595;Note=M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9012408;Dbxref=PMID:9012408
Q9UMD9	202	255	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	202	255	145	230	Region	Note=Necessary for interaction with DST and for the recruitment of DST to hemidesmosome;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12482924;Dbxref=PMID:12482924
Q9UMD9	202	255	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	279	303	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	279	303	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	279	303	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	303	326	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	303	326	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	303	326	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	407	422	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	407	422	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	407	422	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	590	611	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	590	611	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	590	611	567	1482	Region	Note=Triple-helical region
Q9UMD9	590	611	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	611	646	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	611	646	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	611	646	627	627	Natural variant	ID=VAR_017598;Note=In GABEB. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10652291,ECO:0000269\|PubMed:8669466;Dbxref=PMID:10652291,PMID:8669466
Q9UMD9	611	646	633	633	Natural variant	ID=VAR_017599;Note=In GABEB. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10951237;Dbxref=dbSNP:rs121912773,PMID:10951237
Q9UMD9	611	646	567	1482	Region	Note=Triple-helical region
Q9UMD9	611	646	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	742	754	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	742	754	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	742	754	567	1482	Region	Note=Triple-helical region
Q9UMD9	742	754	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	787	799	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	787	799	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	787	799	567	1482	Region	Note=Triple-helical region
Q9UMD9	787	799	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	799	811	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	799	811	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	799	811	567	1482	Region	Note=Triple-helical region
Q9UMD9	799	811	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	882	900	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	882	900	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	882	900	567	1482	Region	Note=Triple-helical region
Q9UMD9	882	900	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	900	920	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	900	920	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	900	920	567	1482	Region	Note=Triple-helical region
Q9UMD9	900	920	905	905	Sequence conflict	Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	900	920	905	905	Sequence conflict	Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	900	920	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	929	940	922	966	Alternative sequence	ID=VSP_024940;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	929	940	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	929	940	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	929	940	939	939	Natural variant	ID=VAR_074627;Note=In ERED. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25676728;Dbxref=dbSNP:rs797045142,PMID:25676728
Q9UMD9	929	940	567	1482	Region	Note=Triple-helical region
Q9UMD9	929	940	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	965	982	922	966	Alternative sequence	ID=VSP_024940;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	965	982	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	965	982	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	965	982	567	1482	Region	Note=Triple-helical region
Q9UMD9	965	982	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1023	1069	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1023	1069	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1023	1069	567	1482	Region	Note=Triple-helical region
Q9UMD9	1023	1069	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1092	1139	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1092	1139	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1092	1139	567	1482	Region	Note=Triple-helical region
Q9UMD9	1092	1139	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1139	1169	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1139	1169	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1139	1169	567	1482	Region	Note=Triple-helical region
Q9UMD9	1139	1169	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1169	1206	1170	1207	Alternative sequence	ID=VSP_024941;Note=In isoform 2. GSEFRGIVGPPGPPGPPGIPGNVWSSISVEDLSSYLHT->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	1169	1206	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1169	1206	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1169	1206	567	1482	Region	Note=Triple-helical region
Q9UMD9	1169	1206	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1452	1479	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1452	1479	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1452	1479	567	1482	Region	Note=Triple-helical region
Q9UMD9	1452	1479	489	1497	Topological domain	Note=Extracellular;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
Q9UMD9	17	32	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	17	32	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	17	32	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	32	67	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	32	67	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	32	67	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	67	110	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	67	110	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	67	110	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	110	126	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	110	126	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	110	126	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	202	255	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	202	255	210	210	Natural variant	ID=VAR_017593;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs805708,PMID:15489334
Q9UMD9	202	255	231	231	Natural variant	ID=VAR_017594;Note=M->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11912005,ECO:0000269\|PubMed:9012408;Dbxref=dbSNP:rs1054113,PMID:11912005,PMID:9012408
Q9UMD9	202	255	238	238	Natural variant	ID=VAR_017595;Note=M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9012408;Dbxref=PMID:9012408
Q9UMD9	202	255	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	202	255	145	230	Region	Note=Necessary for interaction with DST and for the recruitment of DST to hemidesmosome;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12482924;Dbxref=PMID:12482924
Q9UMD9	202	255	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	279	303	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	279	303	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	279	303	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	303	326	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	303	326	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	303	326	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	407	422	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	407	422	1	566	Region	Note=Nonhelical region (NC16)
Q9UMD9	407	422	1	467	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	590	611	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	590	611	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	590	611	567	1482	Region	Note=Triple-helical region
Q9UMD9	590	611	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	611	646	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	611	646	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	611	646	627	627	Natural variant	ID=VAR_017598;Note=In GABEB. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10652291,ECO:0000269\|PubMed:8669466;Dbxref=PMID:10652291,PMID:8669466
Q9UMD9	611	646	633	633	Natural variant	ID=VAR_017599;Note=In GABEB. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10951237;Dbxref=dbSNP:rs121912773,PMID:10951237
Q9UMD9	611	646	567	1482	Region	Note=Triple-helical region
Q9UMD9	611	646	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	742	754	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	742	754	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	742	754	567	1482	Region	Note=Triple-helical region
Q9UMD9	742	754	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	787	799	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	787	799	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	787	799	567	1482	Region	Note=Triple-helical region
Q9UMD9	787	799	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	799	811	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	799	811	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	799	811	567	1482	Region	Note=Triple-helical region
Q9UMD9	799	811	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	882	900	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	882	900	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	882	900	567	1482	Region	Note=Triple-helical region
Q9UMD9	882	900	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	900	920	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	900	920	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	900	920	567	1482	Region	Note=Triple-helical region
Q9UMD9	900	920	905	905	Sequence conflict	Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	900	920	905	905	Sequence conflict	Note=S->F;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	900	920	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	929	940	922	966	Alternative sequence	ID=VSP_024940;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	929	940	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	929	940	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	929	940	939	939	Natural variant	ID=VAR_074627;Note=In ERED. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25676728;Dbxref=dbSNP:rs797045142,PMID:25676728
Q9UMD9	929	940	567	1482	Region	Note=Triple-helical region
Q9UMD9	929	940	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	965	982	922	966	Alternative sequence	ID=VSP_024940;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	965	982	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	965	982	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	965	982	567	1482	Region	Note=Triple-helical region
Q9UMD9	965	982	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1023	1069	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1023	1069	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1023	1069	567	1482	Region	Note=Triple-helical region
Q9UMD9	1023	1069	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1092	1139	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1092	1139	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1092	1139	567	1482	Region	Note=Triple-helical region
Q9UMD9	1092	1139	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1139	1169	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1139	1169	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1139	1169	567	1482	Region	Note=Triple-helical region
Q9UMD9	1139	1169	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1169	1206	1170	1207	Alternative sequence	ID=VSP_024941;Note=In isoform 2. GSEFRGIVGPPGPPGPPGIPGNVWSSISVEDLSSYLHT->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UMD9	1169	1206	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1169	1206	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1169	1206	567	1482	Region	Note=Triple-helical region
Q9UMD9	1169	1206	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UMD9	1452	1479	1	1497	Chain	ID=PRO_0000059406;Note=Collagen alpha-1(XVII) chain
Q9UMD9	1452	1479	524	1497	Chain	ID=PRO_0000342555;Note=120 kDa linear IgA disease antigen
Q9UMD9	1452	1479	567	1482	Region	Note=Triple-helical region
Q9UMD9	1452	1479	489	1497	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

Top

SNVs in the skipped exons for COL17A1

- 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
UCEC	TCGA-D1-A0ZO-01	exon_skip_53969	105800109	105800168	105800129	105800129	Frame_Shift_Del	G	-	p.P914fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_53980	105816733	105816930	105816915	105816915	Frame_Shift_Del	C	-	p.G428fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_53988	105822016	105822087	105822059	105822059	Frame_Shift_Del	G	-	p.P289fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_53998	105836059	105836187	105836086	105836086	Frame_Shift_Del	T	-	p.T102fs
ESCA	TCGA-LN-A49R-01	exon_skip_53957	105792432	105792512	105792467	105792468	Frame_Shift_Ins	-	CA	p.G1468fs
ESCA	TCGA-LN-A49R-01	exon_skip_53957	105792432	105792512	105792467	105792468	Frame_Shift_Ins	-	CA	p.P1468fs
SKCM	TCGA-EE-A3J7-06	exon_skip_53969	105800109	105800168	105800146	105800147	Frame_Shift_Ins	-	G	p.P908fs
SKCM	TCGA-EE-A3J7-06	exon_skip_53969	105800109	105800168	105800146	105800147	Frame_Shift_Ins	-	G	p.R908fs
COAD	TCGA-A6-2676-01	exon_skip_53978	105812789	105812893	105812843	105812844	Frame_Shift_Ins	-	G	p.M629fs
LIHC	TCGA-BC-A110-01	exon_skip_54000	105837180	105837284	105837253	105837254	Frame_Shift_Ins	-	G	p.T43fs
HNSC	TCGA-CQ-5333-01	exon_skip_53968	105799366	105799398	105799374	105799374	Nonsense_Mutation	G	C	p.S938*
UCEC	TCGA-D1-A167-01	exon_skip_53978	105812789	105812893	105812855	105812855	Nonsense_Mutation	G	A	p.R625*
THYM	TCGA-4V-A9QN-01	exon_skip_53979	105813678	105813740	105813693	105813693	Nonsense_Mutation	G	A	p.Q607X
SKCM	TCGA-DA-A1I0-06	exon_skip_53969	105800109	105800168	105800169	105800169	Splice_Site	C	T	.
UCEC	TCGA-AP-A051-01	exon_skip_53979	105813678	105813740	105813677	105813677	Splice_Site	C	T	e21+1

- 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
SNUC2A_LARGE_INTESTINE	105795021	105795131	105795101	105795101	Frame_Shift_Del	G	-	p.P1180fs
PK1_PANCREAS	105797394	105797531	105797403	105797403	Frame_Shift_Del	A	-	p.Y1067fs
CAL39_VULVA	105800823	105800876	105800843	105800851	In_Frame_Del	CCTGGTGGG	-	p.891_894GPPG>G
MCC13_SKIN	105792432	105792512	105792461	105792461	Missense_Mutation	C	T	p.R1470Q
SNU1040_LARGE_INTESTINE	105795021	105795131	105795035	105795035	Missense_Mutation	G	A	p.S1202L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	105795232	105795321	105795276	105795276	Missense_Mutation	C	T	p.G1155D
BV173_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	105795232	105795321	105795279	105795279	Missense_Mutation	G	C	p.P1154R
SNU81_LARGE_INTESTINE	105795232	105795321	105795318	105795318	Missense_Mutation	G	T	p.S1141Y
SNU81_LARGE_INTESTINE	105796250	105796390	105796265	105796265	Missense_Mutation	G	T	p.L1135I
LI7_LIVER	105796250	105796390	105796270	105796270	Missense_Mutation	C	T	p.R1133H
A2058_SKIN	105796250	105796390	105796285	105796285	Missense_Mutation	G	A	p.A1128V
NCIH187_LUNG	105796250	105796390	105796324	105796324	Missense_Mutation	C	T	p.G1115E
NEC8_TESTIS	105797394	105797531	105797475	105797475	Missense_Mutation	G	A	p.P1043S
NB12_AUTONOMIC_GANGLIA	105799366	105799398	105799389	105799389	Missense_Mutation	C	A	p.G933V
SW684_SOFT_TISSUE	105800109	105800168	105800117	105800117	Missense_Mutation	C	T	p.G918E
DMS53_LUNG	105800109	105800168	105800132	105800132	Missense_Mutation	G	T	p.P913H
HEC1_ENDOMETRIUM	105800109	105800168	105800153	105800153	Missense_Mutation	C	G	p.G906A
COLO679_SKIN	105800823	105800876	105800844	105800844	Missense_Mutation	C	T	p.G894R
SNUC5_LARGE_INTESTINE	105803583	105803618	105803588	105803588	Missense_Mutation	G	T	p.T810N
SNU175_LARGE_INTESTINE	105805516	105805551	105805533	105805533	Missense_Mutation	C	T	p.G794D
LNCAPCLONEFGC_PROSTATE	105812789	105812893	105812812	105812812	Missense_Mutation	C	T	p.G639E
UACC893_BREAST	105812789	105812893	105812866	105812866	Missense_Mutation	C	G	p.G621A
MET2B	105813678	105813740	105813705	105813705	Missense_Mutation	C	T	p.G603R
SKRC20_KIDNEY	105813678	105813740	105813725	105813725	Missense_Mutation	A	G	p.L596S
CAL51_BREAST	105816733	105816930	105816801	105816801	Missense_Mutation	T	C	p.K466R
MERO25_LUNG	105821163	105821231	105821210	105821210	Missense_Mutation	A	G	p.M311T
SNU1196_BILIARY_TRACT	105822016	105822087	105822036	105822036	Missense_Mutation	C	T	p.G297D
NCIH1792_LUNG	105824196	105824354	105824235	105824235	Missense_Mutation	A	T	p.S243T
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	105824196	105824354	105824283	105824283	Missense_Mutation	C	T	p.A227T
NCIH1694_LUNG	105824196	105824354	105824285	105824285	Missense_Mutation	G	T	p.P226H
SAOS2_BONE	105824196	105824354	105824289	105824289	Missense_Mutation	G	C	p.L225V
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	105824196	105824354	105824291	105824291	Missense_Mutation	G	A	p.T224I
NCIH720_LUNG	105824196	105824354	105824291	105824291	Missense_Mutation	G	A	p.T224I
MCC13_SKIN	105824196	105824354	105824309	105824309	Missense_Mutation	G	A	p.S218F
A253_SALIVARY_GLAND	105824196	105824354	105824331	105824331	Missense_Mutation	T	C	p.I211V
DIPG007_CENTRAL_NERVOUS_SYSTEM	105833942	105833989	105833954	105833954	Missense_Mutation	G	A	p.R123W
CCK81_LARGE_INTESTINE	105833942	105833989	105833965	105833965	Missense_Mutation	G	A	p.P119L
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	105836059	105836187	105836169	105836169	Missense_Mutation	T	C	p.H74R
SNU81_LARGE_INTESTINE	105836059	105836187	105836172	105836172	Missense_Mutation	C	T	p.G73D
SNU1040_LARGE_INTESTINE	105837180	105837284	105837214	105837214	Missense_Mutation	G	C	p.S56R
MCC13_SKIN	105838300	105838344	105838311	105838311	Missense_Mutation	G	A	p.S29F
2313287_STOMACH	105812789	105812893	105812840	105812840	Nonsense_Mutation	C	A	p.G630*
SNU886_LIVER	105800823	105800876	105800823	105800823	Splice_Site	C	T	p.E901K

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COL17A1

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

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL17A1

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL17A1

Top

RelatedDrugs for COL17A1

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

Top

RelatedDiseases for COL17A1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
COL17A1	C0268374	Adult junctional epidermolysis bullosa (disorder)	6	CTD_human;ORPHANET;UNIPROT
COL17A1	C1852551	Epithelial Recurrent Erosion Dystrophy	1	ORPHANET;UNIPROT

	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

Home

Download

Statistics

Landscape

Help

Contact