ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for COL7A1

Gene summary

Gene information	Gene symbol	COL7A1
	Gene ID	1294
	Gene name	collagen type VII alpha 1 chain
	Synonyms	EBD1\|EBDCT\|EBR1\|NDNC8
	Cytomap	3p21.31
	Type of gene	protein-coding
	Description	collagen alpha-1(VII) chainLC collagencollagen VII, alpha-1 polypeptidecollagen, type VII, alpha 1long-chain collagen
	Modification date	20180523
	UniProtAcc	Q02388
	Context	PubMed: COL7A1 [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 COL7A1 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 COL7A1

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 COL7A1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_383629	3	48602215:48602413:48602541:48602634:48602842:48602929	48602541:48602634	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383635	3	48602541:48602634:48602842:48602929:48603068:48603101	48602842:48602929	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383640	3	48604560:48604623:48605006:48605069:48605142:48605196	48605006:48605069	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383643	3	48605931:48605967:48606216:48606288:48606807:48606879	48606216:48606288	ENSG00000114270.11	ENST00000459756.1,ENST00000454817.1,ENST00000487017.1,ENST00000328333.8,ENST00000467985.1
exon_skip_383645	3	48607190:48607193:48607312:48607348:48607566:48607611	48607312:48607348	ENSG00000114270.11	ENST00000459756.1,ENST00000454817.1,ENST00000487017.1,ENST00000328333.8,ENST00000467985.1,ENST00000422991.1
exon_skip_383649	3	48607312:48607348:48607566:48607767:48607897:48607933	48607566:48607767	ENSG00000114270.11	ENST00000467985.1
exon_skip_383650	3	48607566:48607611:48607707:48607767:48607897:48607933	48607707:48607767	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8,ENST00000422991.1
exon_skip_383652	3	48608078:48608143:48608293:48608401:48608533:48608593	48608293:48608401	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8,ENST00000422991.1
exon_skip_383655	3	48608533:48608593:48608675:48608711:48609433:48609478	48608675:48608711	ENSG00000114270.11	ENST00000454817.1,ENST00000328333.8
exon_skip_383659	3	48608675:48608711:48609433:48609478:48609559:48609604	48609433:48609478	ENSG00000114270.11	ENST00000454817.1,ENST00000328333.8
exon_skip_383661	3	48609812:48609854:48609935:48609971:48610103:48610172	48609935:48609971	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383665	3	48609935:48609971:48610103:48610172:48610294:48610375	48610103:48610172	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383669	3	48610606:48610669:48610748:48610781:48610945:48610990	48610748:48610781	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383672	3	48610748:48610781:48610945:48610990:48611122:48611158	48610945:48610990	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383673	3	48611920:48611983:48612109:48612154:48612229:48612298	48612109:48612154	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383676	3	48613058:48613181:48613299:48613335:48613681:48613729	48613299:48613335	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383677	3	48613832:48613868:48613954:48613990:48614108:48614204	48613954:48613990	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8
exon_skip_383678	3	48613954:48613990:48614108:48614204:48614316:48614352	48614108:48614204	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8
exon_skip_383681	3	48614316:48614352:48614424:48614460:48615753:48615798	48614424:48614460	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383686	3	48621150:48621213:48621332:48621386:48621467:48621494	48621332:48621386	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383688	3	48621467:48621494:48621730:48621808:48621917:48621953	48621730:48621808	ENSG00000114270.11	ENST00000454817.1,ENST00000487017.1,ENST00000328333.8
exon_skip_383690	3	48622166:48622202:48622342:48622378:48622468:48622549	48622342:48622378	ENSG00000114270.11	ENST00000454817.1,ENST00000328333.8
exon_skip_383691	3	48623262:48623289:48623372:48623408:48623506:48623679	48623372:48623408	ENSG00000114270.11	ENST00000454817.1,ENST00000328333.8
exon_skip_383694	3	48623372:48623408:48623506:48623679:48623764:48623905	48623506:48623679	ENSG00000114270.11	ENST00000454817.1,ENST00000328333.8
exon_skip_383697	3	48625714:48625837:48626074:48626221:48626302:48626428	48626074:48626221	ENSG00000114270.11	ENST00000454817.1,ENST00000328333.8
exon_skip_383699	3	48630002:48630132:48630207:48630371:48630534:48630611	48630207:48630371	ENSG00000114270.11	ENST00000454817.1,ENST00000328333.8
exon_skip_383702	3	48630788:48630882:48630969:48631129:48631800:48631981	48630969:48631129	ENSG00000114270.11	ENST00000454817.1,ENST00000328333.8

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for COL7A1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_383629	3	48602215:48602413:48602541:48602634:48602842:48602929	48602541:48602634	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383640	3	48604560:48604623:48605006:48605069:48605142:48605196	48605006:48605069	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383643	3	48605931:48605967:48606216:48606288:48606807:48606879	48606216:48606288	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1,ENST00000459756.1,ENST00000467985.1
exon_skip_383645	3	48607190:48607193:48607312:48607348:48607566:48607611	48607312:48607348	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1,ENST00000459756.1,ENST00000467985.1,ENST00000422991.1
exon_skip_383649	3	48607312:48607348:48607566:48607767:48607897:48607933	48607566:48607767	ENSG00000114270.11	ENST00000467985.1
exon_skip_383650	3	48607566:48607611:48607707:48607767:48607897:48607933	48607707:48607767	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1,ENST00000422991.1
exon_skip_383652	3	48608078:48608143:48608293:48608401:48608533:48608593	48608293:48608401	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1,ENST00000422991.1
exon_skip_383655	3	48608533:48608593:48608675:48608711:48609433:48609478	48608675:48608711	ENSG00000114270.11	ENST00000328333.8,ENST00000454817.1
exon_skip_383659	3	48608675:48608711:48609433:48609478:48609559:48609604	48609433:48609478	ENSG00000114270.11	ENST00000328333.8,ENST00000454817.1
exon_skip_383661	3	48609812:48609854:48609935:48609971:48610103:48610172	48609935:48609971	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383665	3	48609935:48609971:48610103:48610172:48610294:48610375	48610103:48610172	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383669	3	48610606:48610669:48610748:48610781:48610945:48610990	48610748:48610781	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383672	3	48610748:48610781:48610945:48610990:48611122:48611158	48610945:48610990	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383673	3	48611920:48611983:48612109:48612154:48612229:48612298	48612109:48612154	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383676	3	48613058:48613181:48613299:48613335:48613681:48613729	48613299:48613335	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383677	3	48613832:48613868:48613954:48613990:48614108:48614204	48613954:48613990	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8
exon_skip_383678	3	48613954:48613990:48614108:48614204:48614316:48614352	48614108:48614204	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8
exon_skip_383681	3	48614316:48614352:48614424:48614460:48615753:48615798	48614424:48614460	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383686	3	48621150:48621213:48621332:48621386:48621467:48621494	48621332:48621386	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383688	3	48621467:48621494:48621730:48621808:48621917:48621953	48621730:48621808	ENSG00000114270.11	ENST00000487017.1,ENST00000328333.8,ENST00000454817.1
exon_skip_383690	3	48622166:48622202:48622342:48622378:48622468:48622549	48622342:48622378	ENSG00000114270.11	ENST00000328333.8,ENST00000454817.1
exon_skip_383691	3	48623262:48623289:48623372:48623408:48623506:48623679	48623372:48623408	ENSG00000114270.11	ENST00000328333.8,ENST00000454817.1
exon_skip_383694	3	48623372:48623408:48623506:48623679:48623764:48623905	48623506:48623679	ENSG00000114270.11	ENST00000328333.8,ENST00000454817.1
exon_skip_383697	3	48625714:48625837:48626074:48626221:48626302:48626428	48626074:48626221	ENSG00000114270.11	ENST00000328333.8,ENST00000454817.1
exon_skip_383699	3	48630002:48630132:48630207:48630371:48630534:48630611	48630207:48630371	ENSG00000114270.11	ENST00000328333.8,ENST00000454817.1
exon_skip_383702	3	48630788:48630882:48630969:48631129:48631800:48631981	48630969:48631129	ENSG00000114270.11	ENST00000328333.8,ENST00000454817.1

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 COL7A1

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
ENST00000328333	48623506	48623679	Frame-shift
ENST00000328333	48630207	48630371	Frame-shift
ENST00000328333	48630969	48631129	Frame-shift
ENST00000328333	48602541	48602634	In-frame
ENST00000328333	48602842	48602929	In-frame
ENST00000328333	48605006	48605069	In-frame
ENST00000328333	48606216	48606288	In-frame
ENST00000328333	48607312	48607348	In-frame
ENST00000328333	48607707	48607767	In-frame
ENST00000328333	48608293	48608401	In-frame
ENST00000328333	48608675	48608711	In-frame
ENST00000328333	48609433	48609478	In-frame
ENST00000328333	48609935	48609971	In-frame
ENST00000328333	48610103	48610172	In-frame
ENST00000328333	48610748	48610781	In-frame
ENST00000328333	48610945	48610990	In-frame
ENST00000328333	48612109	48612154	In-frame
ENST00000328333	48613299	48613335	In-frame
ENST00000328333	48613954	48613990	In-frame
ENST00000328333	48614108	48614204	In-frame
ENST00000328333	48614424	48614460	In-frame
ENST00000328333	48621332	48621386	In-frame
ENST00000328333	48621730	48621808	In-frame
ENST00000328333	48622342	48622378	In-frame
ENST00000328333	48623372	48623408	In-frame
ENST00000328333	48626074	48626221	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
ENST00000328333	48623506	48623679	Frame-shift
ENST00000328333	48630207	48630371	Frame-shift
ENST00000328333	48630969	48631129	Frame-shift
ENST00000328333	48602541	48602634	In-frame
ENST00000328333	48605006	48605069	In-frame
ENST00000328333	48606216	48606288	In-frame
ENST00000328333	48607312	48607348	In-frame
ENST00000328333	48607707	48607767	In-frame
ENST00000328333	48608293	48608401	In-frame
ENST00000328333	48608675	48608711	In-frame
ENST00000328333	48609433	48609478	In-frame
ENST00000328333	48609935	48609971	In-frame
ENST00000328333	48610103	48610172	In-frame
ENST00000328333	48610748	48610781	In-frame
ENST00000328333	48610945	48610990	In-frame
ENST00000328333	48612109	48612154	In-frame
ENST00000328333	48613299	48613335	In-frame
ENST00000328333	48613954	48613990	In-frame
ENST00000328333	48614108	48614204	In-frame
ENST00000328333	48614424	48614460	In-frame
ENST00000328333	48621332	48621386	In-frame
ENST00000328333	48621730	48621808	In-frame
ENST00000328333	48622342	48622378	In-frame
ENST00000328333	48623372	48623408	In-frame
ENST00000328333	48626074	48626221	In-frame

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Infer the effects of exon skipping event on protein functional features for COL7A1

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
ENST00000328333	9293	2944	48626074	48626221	2549	2695	813	862
ENST00000328333	9293	2944	48623372	48623408	3832	3867	1241	1253
ENST00000328333	9293	2944	48622342	48622378	4084	4119	1325	1337
ENST00000328333	9293	2944	48621730	48621808	4228	4305	1373	1399
ENST00000328333	9293	2944	48621332	48621386	4333	4386	1408	1426
ENST00000328333	9293	2944	48614424	48614460	5641	5676	1844	1856
ENST00000328333	9293	2944	48614108	48614204	5713	5808	1868	1900
ENST00000328333	9293	2944	48613954	48613990	5809	5844	1900	1912
ENST00000328333	9293	2944	48613299	48613335	5929	5964	1940	1952
ENST00000328333	9293	2944	48612109	48612154	6457	6501	2116	2131
ENST00000328333	9293	2944	48610945	48610990	6682	6726	2191	2206
ENST00000328333	9293	2944	48610748	48610781	6727	6759	2206	2217
ENST00000328333	9293	2944	48610103	48610172	6940	7008	2277	2300
ENST00000328333	9293	2944	48609935	48609971	7009	7044	2300	2312
ENST00000328333	9293	2944	48609433	48609478	7132	7176	2341	2356
ENST00000328333	9293	2944	48608675	48608711	7177	7212	2356	2368
ENST00000328333	9293	2944	48608293	48608401	7273	7380	2388	2424
ENST00000328333	9293	2944	48607707	48607767	7489	7548	2460	2480
ENST00000328333	9293	2944	48607312	48607348	7594	7629	2495	2507
ENST00000328333	9293	2944	48606216	48606288	7795	7866	2562	2586
ENST00000328333	9293	2944	48605006	48605069	8092	8154	2661	2682
ENST00000328333	9293	2944	48602842	48602929	8549	8635	2813	2842
ENST00000328333	9293	2944	48602541	48602634	8636	8728	2842	2873

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
ENST00000328333	9293	2944	48626074	48626221	2549	2695	813	862
ENST00000328333	9293	2944	48623372	48623408	3832	3867	1241	1253
ENST00000328333	9293	2944	48622342	48622378	4084	4119	1325	1337
ENST00000328333	9293	2944	48621730	48621808	4228	4305	1373	1399
ENST00000328333	9293	2944	48621332	48621386	4333	4386	1408	1426
ENST00000328333	9293	2944	48614424	48614460	5641	5676	1844	1856
ENST00000328333	9293	2944	48614108	48614204	5713	5808	1868	1900
ENST00000328333	9293	2944	48613954	48613990	5809	5844	1900	1912
ENST00000328333	9293	2944	48613299	48613335	5929	5964	1940	1952
ENST00000328333	9293	2944	48612109	48612154	6457	6501	2116	2131
ENST00000328333	9293	2944	48610945	48610990	6682	6726	2191	2206
ENST00000328333	9293	2944	48610748	48610781	6727	6759	2206	2217
ENST00000328333	9293	2944	48610103	48610172	6940	7008	2277	2300
ENST00000328333	9293	2944	48609935	48609971	7009	7044	2300	2312
ENST00000328333	9293	2944	48609433	48609478	7132	7176	2341	2356
ENST00000328333	9293	2944	48608675	48608711	7177	7212	2356	2368
ENST00000328333	9293	2944	48608293	48608401	7273	7380	2388	2424
ENST00000328333	9293	2944	48607707	48607767	7489	7548	2460	2480
ENST00000328333	9293	2944	48607312	48607348	7594	7629	2495	2507
ENST00000328333	9293	2944	48606216	48606288	7795	7866	2562	2586
ENST00000328333	9293	2944	48605006	48605069	8092	8154	2661	2682
ENST00000328333	9293	2944	48602541	48602634	8636	8728	2842	2873

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
Q02388	813	862	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	813	862	778	866	Domain	Note=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q02388	813	862	17	1253	Region	Note=Nonhelical region (NC1)
Q02388	813	862	851	851	Sequence conflict	Note=R->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q02388	1241	1253	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1241	1253	17	1253	Region	Note=Nonhelical region (NC1)
Q02388	1325	1337	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1325	1337	1334	1336	Motif	Note=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02388	1325	1337	1254	2784	Region	Note=Triple-helical region
Q02388	1325	1337	1254	1477	Region	Note=Interrupted collagenous region
Q02388	1373	1399	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1373	1399	1254	2784	Region	Note=Triple-helical region
Q02388	1373	1399	1254	1477	Region	Note=Interrupted collagenous region
Q02388	1408	1426	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1408	1426	1254	2784	Region	Note=Triple-helical region
Q02388	1408	1426	1254	1477	Region	Note=Interrupted collagenous region
Q02388	1844	1856	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1844	1856	1845	1845	Natural variant	ID=VAR_064994;Note=In RDEB. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20598510;Dbxref=PMID:20598510
Q02388	1844	1856	1254	2784	Region	Note=Triple-helical region
Q02388	1868	1900	1869	1900	Alternative sequence	ID=VSP_024026;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q02388	1868	1900	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1868	1900	1254	2784	Region	Note=Triple-helical region
Q02388	1900	1912	1869	1900	Alternative sequence	ID=VSP_024026;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q02388	1900	1912	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1900	1912	1254	2784	Region	Note=Triple-helical region
Q02388	1940	1952	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1940	1952	1254	2784	Region	Note=Triple-helical region
Q02388	2116	2131	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2116	2131	1254	2784	Region	Note=Triple-helical region
Q02388	2191	2206	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2191	2206	2192	2192	Natural variant	ID=VAR_011187;Note=In RDEB. G->S
Q02388	2191	2206	1254	2784	Region	Note=Triple-helical region
Q02388	2206	2217	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2206	2217	2207	2207	Natural variant	ID=VAR_011188;Note=In DDEB. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9740253;Dbxref=PMID:9740253
Q02388	2206	2217	1254	2784	Region	Note=Triple-helical region
Q02388	2277	2300	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2277	2300	2287	2287	Natural variant	ID=VAR_011191;Note=In RDEB%3B moderately severe phenotype when compound heterozygous with R-2316%3B leads to isolated toenail dystrophy when heterozygous with a normal allele. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10469344;Dbxref=dbSN
Q02388	2277	2300	2296	2296	Natural variant	ID=VAR_064999;Note=In RDEB. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20598510;Dbxref=PMID:20598510
Q02388	2277	2300	1254	2784	Region	Note=Triple-helical region
Q02388	2300	2312	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2300	2312	1254	2784	Region	Note=Triple-helical region
Q02388	2341	2356	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2341	2356	2348	2348	Natural variant	ID=VAR_011193;Note=In DDEB/RDEB%3B mild form. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10232407;Dbxref=PMID:10232407
Q02388	2341	2356	2351	2351	Natural variant	ID=VAR_001829;Note=In a patient with dystrophic epidermolysis bullosa%3B mitis type. G->R;Dbxref=dbSNP:rs1800013
Q02388	2341	2356	1254	2784	Region	Note=Triple-helical region
Q02388	2356	2368	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2356	2368	2366	2366	Natural variant	ID=VAR_011194;Note=In RDEB%3B mitis type. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10232406;Dbxref=PMID:10232406
Q02388	2356	2368	1254	2784	Region	Note=Triple-helical region
Q02388	2388	2424	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2388	2424	1254	2784	Region	Note=Triple-helical region
Q02388	2460	2480	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2460	2480	1254	2784	Region	Note=Triple-helical region
Q02388	2495	2507	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2495	2507	1254	2784	Region	Note=Triple-helical region
Q02388	2562	2586	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2562	2586	2569	2569	Natural variant	ID=VAR_001830;Note=In RDEB%3B severe and mitis type. G->R
Q02388	2562	2586	2575	2575	Natural variant	ID=VAR_001831;Note=In RDEB. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8592061,ECO:0000269\|PubMed:9326325;Dbxref=dbSNP:rs760891216,PMID:8592061,PMID:9326325
Q02388	2562	2586	1254	2784	Region	Note=Triple-helical region
Q02388	2661	2682	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2661	2682	2664	2664	Modified residue	Note=4-hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8051117;Dbxref=PMID:8051117
Q02388	2661	2682	2667	2667	Modified residue	Note=4-hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8051117;Dbxref=PMID:8051117
Q02388	2661	2682	2673	2673	Modified residue	Note=4-hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8051117;Dbxref=PMID:8051117
Q02388	2661	2682	2671	2671	Natural variant	ID=VAR_001834;Note=In RDEB. G->V
Q02388	2661	2682	2674	2674	Natural variant	ID=VAR_011196;Note=In RDEB. G->D
Q02388	2661	2682	2674	2674	Natural variant	ID=VAR_001835;Note=In RDEB%3B mitis type. G->R
Q02388	2661	2682	1254	2784	Region	Note=Triple-helical region
Q02388	2813	2842	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2813	2842	2785	2944	Region	Note=Nonhelical region (NC2)
Q02388	2842	2873	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2842	2873	2872	2944	Domain	Note=BPTI/Kunitz inhibitor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00031
Q02388	2842	2873	2785	2944	Region	Note=Nonhelical region (NC2)

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
Q02388	813	862	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	813	862	778	866	Domain	Note=Fibronectin type-III 7;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
Q02388	813	862	17	1253	Region	Note=Nonhelical region (NC1)
Q02388	813	862	851	851	Sequence conflict	Note=R->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q02388	1241	1253	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1241	1253	17	1253	Region	Note=Nonhelical region (NC1)
Q02388	1325	1337	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1325	1337	1334	1336	Motif	Note=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q02388	1325	1337	1254	2784	Region	Note=Triple-helical region
Q02388	1325	1337	1254	1477	Region	Note=Interrupted collagenous region
Q02388	1373	1399	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1373	1399	1254	2784	Region	Note=Triple-helical region
Q02388	1373	1399	1254	1477	Region	Note=Interrupted collagenous region
Q02388	1408	1426	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1408	1426	1254	2784	Region	Note=Triple-helical region
Q02388	1408	1426	1254	1477	Region	Note=Interrupted collagenous region
Q02388	1844	1856	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1844	1856	1845	1845	Natural variant	ID=VAR_064994;Note=In RDEB. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20598510;Dbxref=PMID:20598510
Q02388	1844	1856	1254	2784	Region	Note=Triple-helical region
Q02388	1868	1900	1869	1900	Alternative sequence	ID=VSP_024026;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q02388	1868	1900	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1868	1900	1254	2784	Region	Note=Triple-helical region
Q02388	1900	1912	1869	1900	Alternative sequence	ID=VSP_024026;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q02388	1900	1912	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1900	1912	1254	2784	Region	Note=Triple-helical region
Q02388	1940	1952	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	1940	1952	1254	2784	Region	Note=Triple-helical region
Q02388	2116	2131	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2116	2131	1254	2784	Region	Note=Triple-helical region
Q02388	2191	2206	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2191	2206	2192	2192	Natural variant	ID=VAR_011187;Note=In RDEB. G->S
Q02388	2191	2206	1254	2784	Region	Note=Triple-helical region
Q02388	2206	2217	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2206	2217	2207	2207	Natural variant	ID=VAR_011188;Note=In DDEB. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9740253;Dbxref=PMID:9740253
Q02388	2206	2217	1254	2784	Region	Note=Triple-helical region
Q02388	2277	2300	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2277	2300	2287	2287	Natural variant	ID=VAR_011191;Note=In RDEB%3B moderately severe phenotype when compound heterozygous with R-2316%3B leads to isolated toenail dystrophy when heterozygous with a normal allele. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10469344;Dbxref=dbSN
Q02388	2277	2300	2296	2296	Natural variant	ID=VAR_064999;Note=In RDEB. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20598510;Dbxref=PMID:20598510
Q02388	2277	2300	1254	2784	Region	Note=Triple-helical region
Q02388	2300	2312	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2300	2312	1254	2784	Region	Note=Triple-helical region
Q02388	2341	2356	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2341	2356	2348	2348	Natural variant	ID=VAR_011193;Note=In DDEB/RDEB%3B mild form. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10232407;Dbxref=PMID:10232407
Q02388	2341	2356	2351	2351	Natural variant	ID=VAR_001829;Note=In a patient with dystrophic epidermolysis bullosa%3B mitis type. G->R;Dbxref=dbSNP:rs1800013
Q02388	2341	2356	1254	2784	Region	Note=Triple-helical region
Q02388	2356	2368	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2356	2368	2366	2366	Natural variant	ID=VAR_011194;Note=In RDEB%3B mitis type. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10232406;Dbxref=PMID:10232406
Q02388	2356	2368	1254	2784	Region	Note=Triple-helical region
Q02388	2388	2424	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2388	2424	1254	2784	Region	Note=Triple-helical region
Q02388	2460	2480	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2460	2480	1254	2784	Region	Note=Triple-helical region
Q02388	2495	2507	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2495	2507	1254	2784	Region	Note=Triple-helical region
Q02388	2562	2586	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2562	2586	2569	2569	Natural variant	ID=VAR_001830;Note=In RDEB%3B severe and mitis type. G->R
Q02388	2562	2586	2575	2575	Natural variant	ID=VAR_001831;Note=In RDEB. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:8592061,ECO:0000269\|PubMed:9326325;Dbxref=dbSNP:rs760891216,PMID:8592061,PMID:9326325
Q02388	2562	2586	1254	2784	Region	Note=Triple-helical region
Q02388	2661	2682	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2661	2682	2664	2664	Modified residue	Note=4-hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8051117;Dbxref=PMID:8051117
Q02388	2661	2682	2667	2667	Modified residue	Note=4-hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8051117;Dbxref=PMID:8051117
Q02388	2661	2682	2673	2673	Modified residue	Note=4-hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8051117;Dbxref=PMID:8051117
Q02388	2661	2682	2671	2671	Natural variant	ID=VAR_001834;Note=In RDEB. G->V
Q02388	2661	2682	2674	2674	Natural variant	ID=VAR_011196;Note=In RDEB. G->D
Q02388	2661	2682	2674	2674	Natural variant	ID=VAR_001835;Note=In RDEB%3B mitis type. G->R
Q02388	2661	2682	1254	2784	Region	Note=Triple-helical region
Q02388	2842	2873	17	2944	Chain	ID=PRO_0000005761;Note=Collagen alpha-1(VII) chain
Q02388	2842	2873	2872	2944	Domain	Note=BPTI/Kunitz inhibitor;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00031
Q02388	2842	2873	2785	2944	Region	Note=Nonhelical region (NC2)

Top

SNVs in the skipped exons for COL7A1

- 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.

COL7A1_LUSC_exon_skip_383673_psi_boxplot.png
boxplot

COL7A1_SKCM_exon_skip_383640_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
STAD	TCGA-CG-5723-01	exon_skip_383629	48602542	48602634	48602622	48602622	Frame_Shift_Del	G	-	p.P2847fs
LIHC	TCGA-4R-AA8I-01	exon_skip_383640	48605007	48605069	48605066	48605066	Frame_Shift_Del	C	-	p.E2663fs
LIHC	TCGA-DD-A3A0-01	exon_skip_383643	48606217	48606288	48606260	48606260	Frame_Shift_Del	C	-	p.G2572fs
LIHC	TCGA-DD-A1EG-01	exon_skip_383645	48607313	48607348	48607341	48607341	Frame_Shift_Del	G	-	p.P2498fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_383645	48607313	48607348	48607346	48607346	Frame_Shift_Del	C	-	p.G2496fs
COAD	TCGA-CK-5913-01	exon_skip_383665	48610104	48610172	48610111	48610111	Frame_Shift_Del	G	-	p.P2298fs
KIRP	TCGA-HE-A5NJ-01	exon_skip_383665	48610104	48610172	48610131	48610131	Frame_Shift_Del	T	-	p.P2292fs
LIHC	TCGA-DD-A1EG-01	exon_skip_383665	48610104	48610172	48610137	48610137	Frame_Shift_Del	T	-	p.G2290fs
LIHC	TCGA-DD-A1EG-01	exon_skip_383665	48610104	48610172	48610137	48610137	Frame_Shift_Del	T	-	p.K2289fs
LIHC	TCGA-DD-A3A0-01	exon_skip_383665	48610104	48610172	48610137	48610137	Frame_Shift_Del	T	-	p.K2289fs
COAD	TCGA-AZ-6598-01	exon_skip_383688	48621731	48621808	48621801	48621801	Frame_Shift_Del	G	-	p.P1376fs
STAD	TCGA-CG-4306-01	exon_skip_383688	48621731	48621808	48621801	48621801	Frame_Shift_Del	G	-	p.P1376fs
UCEC	TCGA-D1-A17H-01	exon_skip_383688	48621731	48621808	48621801	48621801	Frame_Shift_Del	G	-	p.P1376fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_383702	48630970	48631129	48631035	48631035	Frame_Shift_Del	C	-	p.A122fs
LIHC	TCGA-DD-A1EG-01	exon_skip_383702	48630970	48631129	48631052	48631052	Frame_Shift_Del	C	-	p.G115fs
LIHC	TCGA-DD-A3A0-01	exon_skip_383702	48630970	48631129	48631052	48631052	Frame_Shift_Del	C	-	p.G115fs
LIHC	TCGA-DD-A1EG-01	exon_skip_383702	48630970	48631129	48631094	48631094	Frame_Shift_Del	C	-	p.G101fs
LIHC	TCGA-DD-A39Y-01	exon_skip_383702	48630970	48631129	48631094	48631094	Frame_Shift_Del	C	-	p.G101fs
KIRC	TCGA-A3-3316-01	exon_skip_383640	48605007	48605069	48605038	48605039	Frame_Shift_Ins	-	C	p.P2672fs
HNSC	TCGA-IQ-A61K-01	exon_skip_383702	48630970	48631129	48631047	48631048	Frame_Shift_Ins	-	GTTG	p.S117fs
LIHC	TCGA-DD-A4NH-01	exon_skip_383665	48610104	48610172	48610139	48610139	Nonsense_Mutation	T	A	p.K2289*
LIHC	TCGA-DD-A4NH-01	exon_skip_383665	48610104	48610172	48610139	48610139	Nonsense_Mutation	T	A	p.K2289X
LUAD	TCGA-55-8089-01	exon_skip_383694	48623507	48623679	48623528	48623528	Nonsense_Mutation	A	T	p.C1234*
HNSC	TCGA-CN-5361-01	exon_skip_383697	48626075	48626221	48626135	48626135	Nonsense_Mutation	G	A	p.R843*
SKCM	TCGA-RP-A693-06	exon_skip_383640	48605007	48605069	48605070	48605070	Splice_Site	C	T	.
LUAD	TCGA-64-5778-01	exon_skip_383673	48612110	48612154	48612109	48612109	Splice_Site	C	G	p.R2131_splice
LUSC	TCGA-21-1077-01	exon_skip_383673	48612110	48612154	48612109	48612109	Splice_Site	C	T	p.R2131_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-21-1077-01
	Cancer type: LUSC
	ESID: exon_skip_383673
	Skipped exon start: 48612110
	Skipped exon end: 48612154
	Mutation start: 48612109
	Mutation end: 48612109
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: p.R2131_splice
exon_skip_383673_LUSC_TCGA-21-1077-01.png
	Sample: TCGA-RP-A693-06
	Cancer type: SKCM
	ESID: exon_skip_383640
	Skipped exon start: 48605007
	Skipped exon end: 48605069
	Mutation start: 48605070
	Mutation end: 48605070
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: .
exon_skip_383640_SKCM_TCGA-RP-A693-06.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
LNCAPCLONEFGC_PROSTATE	48607313	48607348	48607341	48607341	Frame_Shift_Del	G	-	p.P2498fs
LS180_LARGE_INTESTINE	48621731	48621808	48621800	48621801	Frame_Shift_Ins	-	G	p.P1376fs
LIM1215_LARGE_INTESTINE	48602542	48602634	48602608	48602608	Missense_Mutation	A	G	p.Y2852H
MFE319_ENDOMETRIUM	48602843	48602929	48602850	48602850	Missense_Mutation	C	A	p.E2840D
NCIH520_LUNG	48602843	48602929	48602903	48602903	Missense_Mutation	T	C	p.T2823A
22RV1_PROSTATE	48602843	48602929	48602909	48602909	Missense_Mutation	C	T	p.A2821T
SNUC2A_LARGE_INTESTINE	48602843	48602929	48602911	48602911	Missense_Mutation	G	T	p.A2820D
SNUC2B_LARGE_INTESTINE	48602843	48602929	48602911	48602911	Missense_Mutation	G	T	p.A2820D
HCT15_LARGE_INTESTINE	48605007	48605069	48605035	48605035	Missense_Mutation	G	T	p.P2673H
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48606217	48606288	48606221	48606221	Missense_Mutation	G	A	p.P2585L
OC316_OVARY	48606217	48606288	48606225	48606225	Missense_Mutation	C	T	p.G2584R
OC314_OVARY	48606217	48606288	48606225	48606225	Missense_Mutation	C	T	p.G2584R
MELJUSO_SKIN	48606217	48606288	48606278	48606278	Missense_Mutation	C	T	p.G2566E
LNCAPCLONEFGC_PROSTATE	48607313	48607348	48607324	48607324	Missense_Mutation	G	C	p.R2504G
SISO_CERVIX	48607567	48607767	48607580	48607580	Missense_Mutation	G	T	p.P2491H
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48607567	48607767	48607580	48607580	Missense_Mutation	G	T	p.P2491H
NUGC3_STOMACH	48607567	48607767	48607593	48607593	Missense_Mutation	C	T	p.G2487S
SW1116_LARGE_INTESTINE	48608294	48608401	48608296	48608296	Missense_Mutation	G	A	p.R2424W
CP50EBV_MATCHED_NORMAL_TISSUE	48608294	48608401	48608308	48608308	Missense_Mutation	G	T	p.P2420T
CP50MELB_SKIN	48608294	48608401	48608308	48608308	Missense_Mutation	G	T	p.P2420T
BICR10_UPPER_AERODIGESTIVE_TRACT	48608294	48608401	48608362	48608362	Missense_Mutation	C	A	p.V2402F
M14_SKIN	48608294	48608401	48608368	48608368	Missense_Mutation	G	A	p.P2400S
MDAMB435S_SKIN	48608294	48608401	48608368	48608368	Missense_Mutation	G	A	p.P2400S
P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48610104	48610172	48610129	48610129	Missense_Mutation	G	A	p.P2292L
JIMT1_BREAST	48612110	48612154	48612138	48612138	Missense_Mutation	T	C	p.N2122S
TE12_OESOPHAGUS	48613300	48613335	48613326	48613326	Missense_Mutation	G	A	p.R1944W
ASH3_THYROID	48613300	48613335	48613332	48613332	Missense_Mutation	C	T	p.V1942M
NCIH1623_LUNG	48613955	48613990	48613960	48613960	Missense_Mutation	G	T	p.P1911T
HEC1A_ENDOMETRIUM	48614109	48614204	48614126	48614126	Missense_Mutation	C	T	p.V1895M
HEC1_ENDOMETRIUM	48614109	48614204	48614126	48614126	Missense_Mutation	C	T	p.V1895M
HEC1B_ENDOMETRIUM	48614109	48614204	48614126	48614126	Missense_Mutation	C	T	p.V1895M
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48614109	48614204	48614198	48614198	Missense_Mutation	C	G	p.D1871H
HEC251_ENDOMETRIUM	48614425	48614460	48614457	48614457	Missense_Mutation	C	T	p.E1846K
ECC10_STOMACH	48621333	48621386	48621346	48621346	Missense_Mutation	T	C	p.E1422G
LN464_CENTRAL_NERVOUS_SYSTEM	48621731	48621808	48621748	48621748	Missense_Mutation	G	A	p.P1394S
ACN_AUTONOMIC_GANGLIA	48621731	48621808	48621748	48621748	Missense_Mutation	G	A	p.P1394S
HT1080_SOFT_TISSUE	48623507	48623679	48623538	48623538	Missense_Mutation	G	A	p.T1231I
CL34_LARGE_INTESTINE	48623507	48623679	48623596	48623596	Missense_Mutation	T	C	p.T1212A
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48623507	48623679	48623609	48623609	Missense_Mutation	C	T	p.M1207I
SNU324_PANCREAS	48623507	48623679	48623626	48623626	Missense_Mutation	G	A	p.R1202C
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48623507	48623679	48623652	48623652	Missense_Mutation	G	T	p.A1193D
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48623507	48623679	48623664	48623664	Missense_Mutation	A	G	p.M1189T
COLO684_ENDOMETRIUM	48623507	48623679	48623664	48623664	Missense_Mutation	A	G	p.M1189T
CW2_LARGE_INTESTINE	48626075	48626221	48626113	48626113	Missense_Mutation	T	C	p.D850G
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48626075	48626221	48626183	48626183	Missense_Mutation	C	T	p.D827N
HOP62_LUNG	48630208	48630371	48630215	48630215	Missense_Mutation	C	T	p.R280Q
MCC13_SKIN	48630208	48630371	48630251	48630251	Missense_Mutation	G	A	p.P268L
MDST8_LARGE_INTESTINE	48630208	48630371	48630291	48630291	Missense_Mutation	C	T	p.A255T
HEC108_ENDOMETRIUM	48630208	48630371	48630302	48630302	Missense_Mutation	T	C	p.Q251R
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48630970	48631129	48630983	48630983	Missense_Mutation	G	A	p.P138L
HCC1937_BREAST	48630970	48631129	48631041	48631041	Missense_Mutation	T	G	p.T119P
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48630970	48631129	48631083	48631083	Missense_Mutation	G	A	p.R105C
LNCAPCLONEFGC_PROSTATE	48630970	48631129	48631098	48631098	Missense_Mutation	C	T	p.G100R
JHH7_LIVER	48602542	48602634	48602593	48602593	Nonsense_Mutation	C	A	p.E2857*
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48607567	48607767	48607568	48607568	Splice_Site	G	A	p.T2495M
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48608676	48608711	48608710	48608710	Splice_Site	C	T	p.G2357D
C33A_CERVIX	48609434	48609478	48609478	48609478	Splice_Site	C	T	p.G2342S
2313287_STOMACH	48626075	48626221	48626075	48626075	Splice_Site	G	A	p.P863S
SNU1040_LARGE_INTESTINE	48626075	48626221	48626076	48626076	Splice_Site	C	T	p.T862T
BICR6_UPPER_AERODIGESTIVE_TRACT	48626075	48626221	48626220	48626220	Splice_Site	G	T	p.G814G
PCI38_UPPER_AERODIGESTIVE_TRACT	48626075	48626221	48626220	48626220	Splice_Site	G	A	p.G814G
TK10_KIDNEY	48630208	48630371	48630371	48630371	Splice_Site	G	A	p.P228L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COL7A1

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 COL7A1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL7A1

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RelatedDrugs for COL7A1

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 COL7A1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
COL7A1	C0079474	Hallopeau-Siemens Disease	16	ORPHANET;UNIPROT
COL7A1	C0432322	Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)	15	CTD_human;ORPHANET;UNIPROT
COL7A1	C1851573	Transient bullous dermolysis of the newborn	2	CTD_human;ORPHANET;UNIPROT
COL7A1	C0009404	Colorectal Neoplasms	1	CTD_human
COL7A1	C0432321	Epidermolysis bullosa, pretibial	1	CTD_human;HPO;ORPHANET;UNIPROT
COL7A1	C1275114	Epidermolysis Bullosa Pruriginosa	1	CTD_human;ORPHANET;UNIPROT
COL7A1	C1458155	Mammary Neoplasms	1	CTD_human
COL7A1	C1843761	TOENAIL DYSTROPHY, ISOLATED	1	CTD_human;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

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