ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for COL27A1

Gene summary

Gene information	Gene symbol	COL27A1
	Gene ID	85301
	Gene name	collagen type XXVII alpha 1 chain
	Synonyms	STLS
	Cytomap	9q32
	Type of gene	protein-coding
	Description	collagen alpha-1(XXVII) chaincollagen, type XXVII, alpha 1
	Modification date	20180523
	UniProtAcc	Q8IZC6
	Context	PubMed: COL27A1 [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 COL27A1 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 COL27A1

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 COL27A1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_498309	9	116930887:116931743:116940570:116940624:116945301:116945355	116940570:116940624	ENSG00000196739.10	ENST00000451716.1,ENST00000356083.3,ENST00000494090.2
exon_skip_498310	9	116940570:116940624:116945301:116945355:116958238:116958292	116945301:116945355	ENSG00000196739.10	ENST00000451716.1,ENST00000494090.2
exon_skip_498311	9	116945301:116945355:116956683:116956737:116958238:116958292	116956683:116956737	ENSG00000196739.10	ENST00000356083.3
exon_skip_498312	9	116945301:116945355:116958238:116958292:116967381:116967426	116958238:116958292	ENSG00000196739.10	ENST00000494090.2
exon_skip_498313	9	116958238:116958292:116967381:116967426:116968038:116968088	116967381:116967426	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498318	9	116967381:116967426:116968038:116968092:116968531:116968576	116968038:116968092	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498322	9	116971954:116972008:116973261:116973306:116982070:116982124	116973261:116973306	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498325	9	116982070:116982124:116984502:116984547:116993358:116993412	116984502:116984547	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498328	9	116993358:116993412:116994101:116994138:116997878:116997932	116994101:116994138	ENSG00000196739.10	ENST00000494090.2
exon_skip_498329	9	116993358:116993412:116994101:116994146:116997878:116997932	116994101:116994146	ENSG00000196739.10	ENST00000356083.3
exon_skip_498331	9	116997878:116997932:116999260:116999314:116999941:116999995	116999260:116999314	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498332	9	117002499:117002553:117002713:117002767:117004466:117004511	117002713:117002767	ENSG00000196739.10	ENST00000485397.1,ENST00000356083.3,ENST00000494090.2
exon_skip_498356	9	117008145:117008190:117012894:117012948:117014872:117014926	117012894:117012948	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498363	9	117026634:117026688:117027203:117027248:117027345:117027390	117027203:117027248	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498364	9	117027203:117027248:117027345:117027390:117027701:117027755	117027345:117027390	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498367	9	117028844:117028898:117029783:117029837:117031520:117031574	117029783:117029837	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498375	9	117029783:117029837:117031520:117031574:117033007:117033061	117031520:117031574	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498378	9	117033007:117033061:117037940:117038048:117044556:117044610	117037940:117038048	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498381	9	117050981:117051035:117051193:117051247:117051521:117051575	117051193:117051247	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498383	9	117051193:117051247:117051521:117051575:117052337:117052356	117051521:117051575	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498386	9	117052503:117052611:117053089:117053197:117054382:117054490	117053089:117053197	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498387	9	117054382:117054490:117062349:117062403:117062904:117062967	117062349:117062403	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498389	9	117063563:117063599:117063724:117063742:117063961:117063997	117063724:117063742	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498391	9	117064361:117064388:117066887:117066953:117068799:117068968	117066887:117066953	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498399	9	117068799:117068968:117069948:117070058:117071539:117071619	117069948:117070058	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2,ENST00000490831.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for COL27A1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_498309	9	116930887:116931743:116940570:116940624:116945301:116945355	116940570:116940624	ENSG00000196739.10	ENST00000356083.3,ENST00000451716.1,ENST00000494090.2
exon_skip_498310	9	116940570:116940624:116945301:116945355:116958238:116958292	116945301:116945355	ENSG00000196739.10	ENST00000451716.1,ENST00000494090.2
exon_skip_498311	9	116945301:116945355:116956683:116956737:116958238:116958292	116956683:116956737	ENSG00000196739.10	ENST00000356083.3
exon_skip_498312	9	116945301:116945355:116958238:116958292:116967381:116967426	116958238:116958292	ENSG00000196739.10	ENST00000494090.2
exon_skip_498313	9	116958238:116958292:116967381:116967426:116968038:116968088	116967381:116967426	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498318	9	116967381:116967426:116968038:116968092:116968531:116968576	116968038:116968092	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498322	9	116971954:116972008:116973261:116973306:116982070:116982124	116973261:116973306	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498325	9	116982070:116982124:116984502:116984547:116993358:116993412	116984502:116984547	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498328	9	116993358:116993412:116994101:116994138:116997878:116997932	116994101:116994138	ENSG00000196739.10	ENST00000494090.2
exon_skip_498329	9	116993358:116993412:116994101:116994146:116997878:116997932	116994101:116994146	ENSG00000196739.10	ENST00000356083.3
exon_skip_498331	9	116997878:116997932:116999260:116999314:116999941:116999995	116999260:116999314	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498332	9	117002499:117002553:117002713:117002767:117004466:117004511	117002713:117002767	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2,ENST00000485397.1
exon_skip_498356	9	117008145:117008190:117012894:117012948:117014872:117014926	117012894:117012948	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498363	9	117026634:117026688:117027203:117027248:117027345:117027390	117027203:117027248	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498364	9	117027203:117027248:117027345:117027390:117027701:117027755	117027345:117027390	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498367	9	117028844:117028898:117029783:117029837:117031520:117031574	117029783:117029837	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498375	9	117029783:117029837:117031520:117031574:117033007:117033061	117031520:117031574	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498378	9	117033007:117033061:117037940:117038048:117044556:117044610	117037940:117038048	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498381	9	117050981:117051035:117051193:117051247:117051521:117051575	117051193:117051247	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498383	9	117051193:117051247:117051521:117051575:117052337:117052356	117051521:117051575	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498386	9	117052503:117052611:117053089:117053197:117054382:117054490	117053089:117053197	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498387	9	117054382:117054490:117062349:117062403:117062904:117062967	117062349:117062403	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498389	9	117063563:117063599:117063724:117063742:117063961:117063997	117063724:117063742	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498391	9	117064361:117064388:117066887:117066953:117068799:117068968	117066887:117066953	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2
exon_skip_498399	9	117068799:117068968:117069948:117070058:117071539:117071619	117069948:117070058	ENSG00000196739.10	ENST00000356083.3,ENST00000494090.2,ENST00000490831.1

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 COL27A1

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
ENST00000356083	117069948	117070058	Frame-shift
ENST00000356083	116940570	116940624	In-frame
ENST00000356083	116956683	116956737	In-frame
ENST00000356083	116967381	116967426	In-frame
ENST00000356083	116968038	116968092	In-frame
ENST00000356083	116973261	116973306	In-frame
ENST00000356083	116984502	116984547	In-frame
ENST00000356083	116994101	116994146	In-frame
ENST00000356083	116999260	116999314	In-frame
ENST00000356083	117002713	117002767	In-frame
ENST00000356083	117012894	117012948	In-frame
ENST00000356083	117027203	117027248	In-frame
ENST00000356083	117027345	117027390	In-frame
ENST00000356083	117029783	117029837	In-frame
ENST00000356083	117031520	117031574	In-frame
ENST00000356083	117037940	117038048	In-frame
ENST00000356083	117051193	117051247	In-frame
ENST00000356083	117051521	117051575	In-frame
ENST00000356083	117053089	117053197	In-frame
ENST00000356083	117062349	117062403	In-frame
ENST00000356083	117063724	117063742	In-frame
ENST00000356083	117066887	117066953	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
ENST00000356083	117069948	117070058	Frame-shift
ENST00000356083	116940570	116940624	In-frame
ENST00000356083	116956683	116956737	In-frame
ENST00000356083	116967381	116967426	In-frame
ENST00000356083	116968038	116968092	In-frame
ENST00000356083	116973261	116973306	In-frame
ENST00000356083	116984502	116984547	In-frame
ENST00000356083	116994101	116994146	In-frame
ENST00000356083	116999260	116999314	In-frame
ENST00000356083	117002713	117002767	In-frame
ENST00000356083	117012894	117012948	In-frame
ENST00000356083	117027203	117027248	In-frame
ENST00000356083	117027345	117027390	In-frame
ENST00000356083	117029783	117029837	In-frame
ENST00000356083	117031520	117031574	In-frame
ENST00000356083	117037940	117038048	In-frame
ENST00000356083	117051193	117051247	In-frame
ENST00000356083	117051521	117051575	In-frame
ENST00000356083	117053089	117053197	In-frame
ENST00000356083	117062349	117062403	In-frame
ENST00000356083	117063724	117063742	In-frame
ENST00000356083	117066887	117066953	In-frame

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Infer the effects of exon skipping event on protein functional features for COL27A1

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
ENST00000356083	7807	1860	116940570	116940624	2300	2353	636	654
ENST00000356083	7807	1860	116956683	116956737	2408	2461	672	690
ENST00000356083	7807	1860	116967381	116967426	2516	2560	708	723
ENST00000356083	7807	1860	116968038	116968092	2561	2614	723	741
ENST00000356083	7807	1860	116973261	116973306	2714	2758	774	789
ENST00000356083	7807	1860	116984502	116984547	2813	2857	807	822
ENST00000356083	7807	1860	116994101	116994146	2912	2956	840	855
ENST00000356083	7807	1860	116999260	116999314	3011	3064	873	891
ENST00000356083	7807	1860	117002713	117002767	3173	3226	927	945
ENST00000356083	7807	1860	117012894	117012948	3371	3424	993	1011
ENST00000356083	7807	1860	117027203	117027248	3641	3685	1083	1098
ENST00000356083	7807	1860	117027345	117027390	3686	3730	1098	1113
ENST00000356083	7807	1860	117029783	117029837	3839	3892	1149	1167
ENST00000356083	7807	1860	117031520	117031574	3893	3946	1167	1185
ENST00000356083	7807	1860	117037940	117038048	4001	4108	1203	1239
ENST00000356083	7807	1860	117051193	117051247	4490	4543	1366	1384
ENST00000356083	7807	1860	117051521	117051575	4544	4597	1384	1402
ENST00000356083	7807	1860	117053089	117053197	4760	4867	1456	1492
ENST00000356083	7807	1860	117062349	117062403	4976	5029	1528	1546
ENST00000356083	7807	1860	117066887	117066953	5264	5329	1624	1646

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
ENST00000356083	7807	1860	116940570	116940624	2300	2353	636	654
ENST00000356083	7807	1860	116956683	116956737	2408	2461	672	690
ENST00000356083	7807	1860	116967381	116967426	2516	2560	708	723
ENST00000356083	7807	1860	116968038	116968092	2561	2614	723	741
ENST00000356083	7807	1860	116973261	116973306	2714	2758	774	789
ENST00000356083	7807	1860	116984502	116984547	2813	2857	807	822
ENST00000356083	7807	1860	116994101	116994146	2912	2956	840	855
ENST00000356083	7807	1860	116999260	116999314	3011	3064	873	891
ENST00000356083	7807	1860	117002713	117002767	3173	3226	927	945
ENST00000356083	7807	1860	117012894	117012948	3371	3424	993	1011
ENST00000356083	7807	1860	117027203	117027248	3641	3685	1083	1098
ENST00000356083	7807	1860	117027345	117027390	3686	3730	1098	1113
ENST00000356083	7807	1860	117029783	117029837	3839	3892	1149	1167
ENST00000356083	7807	1860	117031520	117031574	3893	3946	1167	1185
ENST00000356083	7807	1860	117037940	117038048	4001	4108	1203	1239
ENST00000356083	7807	1860	117051193	117051247	4490	4543	1366	1384
ENST00000356083	7807	1860	117051521	117051575	4544	4597	1384	1402
ENST00000356083	7807	1860	117053089	117053197	4760	4867	1456	1492
ENST00000356083	7807	1860	117062349	117062403	4976	5029	1528	1546
ENST00000356083	7807	1860	117066887	117066953	5264	5329	1624	1646

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
Q8IZC6	636	654	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	636	654	637	703	Alternative sequence	ID=VSP_030348;Note=In isoform 3. GPPGLPGLPGIPGARGPRGPPGPYGNPGLPGPPGAKGQKGDPGLSPGKAHDGAKGDMGLPGLSGNPG->VRLSGVCMLLGAPVGDWGIGQVVAPSKDRKRSSLEQGAGYGYILGSSQAPGSSGSAKCIIAHPAPDS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	636	654	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	636	654	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	636	654	625	679	Domain	Note=Collagen-like 1
Q8IZC6	636	654	625	1618	Region	Note=Triple-helical region
Q8IZC6	672	690	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	672	690	637	703	Alternative sequence	ID=VSP_030348;Note=In isoform 3. GPPGLPGLPGIPGARGPRGPPGPYGNPGLPGPPGAKGQKGDPGLSPGKAHDGAKGDMGLPGLSGNPG->VRLSGVCMLLGAPVGDWGIGQVVAPSKDRKRSSLEQGAGYGYILGSSQAPGSSGSAKCIIAHPAPDS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	672	690	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	672	690	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	672	690	625	679	Domain	Note=Collagen-like 1
Q8IZC6	672	690	688	747	Domain	Note=Collagen-like 2
Q8IZC6	672	690	625	1618	Region	Note=Triple-helical region
Q8IZC6	708	723	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	708	723	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	708	723	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	708	723	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	708	723	688	747	Domain	Note=Collagen-like 2
Q8IZC6	708	723	720	720	Natural variant	ID=VAR_048791;Note=P->R;Dbxref=dbSNP:rs35446342
Q8IZC6	708	723	625	1618	Region	Note=Triple-helical region
Q8IZC6	723	741	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	723	741	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	723	741	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	723	741	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	723	741	688	747	Domain	Note=Collagen-like 2
Q8IZC6	723	741	625	1618	Region	Note=Triple-helical region
Q8IZC6	774	789	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	774	789	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	774	789	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	774	789	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	774	789	748	807	Domain	Note=Collagen-like 3
Q8IZC6	774	789	625	1618	Region	Note=Triple-helical region
Q8IZC6	807	822	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	807	822	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	807	822	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	807	822	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	807	822	748	807	Domain	Note=Collagen-like 3
Q8IZC6	807	822	808	867	Domain	Note=Collagen-like 4
Q8IZC6	807	822	625	1618	Region	Note=Triple-helical region
Q8IZC6	840	855	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	840	855	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	840	855	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	840	855	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	840	855	808	867	Domain	Note=Collagen-like 4
Q8IZC6	840	855	625	1618	Region	Note=Triple-helical region
Q8IZC6	873	891	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	873	891	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	873	891	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	873	891	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	873	891	871	930	Domain	Note=Collagen-like 5
Q8IZC6	873	891	625	1618	Region	Note=Triple-helical region
Q8IZC6	927	945	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	927	945	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	927	945	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	927	945	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	927	945	871	930	Domain	Note=Collagen-like 5
Q8IZC6	927	945	931	990	Domain	Note=Collagen-like 6
Q8IZC6	927	945	625	1618	Region	Note=Triple-helical region
Q8IZC6	993	1011	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	993	1011	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	993	1011	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	993	1011	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	993	1011	1003	1062	Domain	Note=Collagen-like 7
Q8IZC6	993	1011	625	1618	Region	Note=Triple-helical region
Q8IZC6	1083	1098	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1083	1098	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1083	1098	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1083	1098	1066	1125	Domain	Note=Collagen-like 8
Q8IZC6	1083	1098	625	1618	Region	Note=Triple-helical region
Q8IZC6	1098	1113	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1098	1113	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1098	1113	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1098	1113	1066	1125	Domain	Note=Collagen-like 8
Q8IZC6	1098	1113	625	1618	Region	Note=Triple-helical region
Q8IZC6	1149	1167	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1149	1167	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1149	1167	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1149	1167	1126	1185	Domain	Note=Collagen-like 9
Q8IZC6	1149	1167	625	1618	Region	Note=Triple-helical region
Q8IZC6	1167	1185	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1167	1185	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1167	1185	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1167	1185	1126	1185	Domain	Note=Collagen-like 9
Q8IZC6	1167	1185	625	1618	Region	Note=Triple-helical region
Q8IZC6	1203	1239	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1203	1239	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1203	1239	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1203	1239	1192	1251	Domain	Note=Collagen-like 10
Q8IZC6	1203	1239	625	1618	Region	Note=Triple-helical region
Q8IZC6	1366	1384	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1366	1384	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1366	1384	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1366	1384	1318	1378	Domain	Note=Collagen-like 12
Q8IZC6	1366	1384	1382	1441	Domain	Note=Collagen-like 13
Q8IZC6	1366	1384	625	1618	Region	Note=Triple-helical region
Q8IZC6	1384	1402	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1384	1402	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1384	1402	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1384	1402	1382	1441	Domain	Note=Collagen-like 13
Q8IZC6	1384	1402	625	1618	Region	Note=Triple-helical region
Q8IZC6	1456	1492	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1456	1492	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1456	1492	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1456	1492	1442	1501	Domain	Note=Collagen-like 14
Q8IZC6	1456	1492	625	1618	Region	Note=Triple-helical region
Q8IZC6	1528	1546	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1528	1546	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1528	1546	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1528	1546	1502	1561	Domain	Note=Collagen-like 15
Q8IZC6	1528	1546	625	1618	Region	Note=Triple-helical region
Q8IZC6	1624	1646	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1624	1646	1622	1860	Propeptide	ID=PRO_0000314668;Note=C-terminal propeptide

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
Q8IZC6	636	654	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	636	654	637	703	Alternative sequence	ID=VSP_030348;Note=In isoform 3. GPPGLPGLPGIPGARGPRGPPGPYGNPGLPGPPGAKGQKGDPGLSPGKAHDGAKGDMGLPGLSGNPG->VRLSGVCMLLGAPVGDWGIGQVVAPSKDRKRSSLEQGAGYGYILGSSQAPGSSGSAKCIIAHPAPDS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	636	654	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	636	654	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	636	654	625	679	Domain	Note=Collagen-like 1
Q8IZC6	636	654	625	1618	Region	Note=Triple-helical region
Q8IZC6	672	690	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	672	690	637	703	Alternative sequence	ID=VSP_030348;Note=In isoform 3. GPPGLPGLPGIPGARGPRGPPGPYGNPGLPGPPGAKGQKGDPGLSPGKAHDGAKGDMGLPGLSGNPG->VRLSGVCMLLGAPVGDWGIGQVVAPSKDRKRSSLEQGAGYGYILGSSQAPGSSGSAKCIIAHPAPDS;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	672	690	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	672	690	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	672	690	625	679	Domain	Note=Collagen-like 1
Q8IZC6	672	690	688	747	Domain	Note=Collagen-like 2
Q8IZC6	672	690	625	1618	Region	Note=Triple-helical region
Q8IZC6	708	723	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	708	723	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	708	723	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	708	723	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	708	723	688	747	Domain	Note=Collagen-like 2
Q8IZC6	708	723	720	720	Natural variant	ID=VAR_048791;Note=P->R;Dbxref=dbSNP:rs35446342
Q8IZC6	708	723	625	1618	Region	Note=Triple-helical region
Q8IZC6	723	741	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	723	741	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	723	741	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	723	741	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	723	741	688	747	Domain	Note=Collagen-like 2
Q8IZC6	723	741	625	1618	Region	Note=Triple-helical region
Q8IZC6	774	789	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	774	789	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	774	789	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	774	789	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	774	789	748	807	Domain	Note=Collagen-like 3
Q8IZC6	774	789	625	1618	Region	Note=Triple-helical region
Q8IZC6	807	822	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	807	822	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	807	822	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	807	822	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	807	822	748	807	Domain	Note=Collagen-like 3
Q8IZC6	807	822	808	867	Domain	Note=Collagen-like 4
Q8IZC6	807	822	625	1618	Region	Note=Triple-helical region
Q8IZC6	840	855	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	840	855	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	840	855	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	840	855	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	840	855	808	867	Domain	Note=Collagen-like 4
Q8IZC6	840	855	625	1618	Region	Note=Triple-helical region
Q8IZC6	873	891	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	873	891	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	873	891	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	873	891	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	873	891	871	930	Domain	Note=Collagen-like 5
Q8IZC6	873	891	625	1618	Region	Note=Triple-helical region
Q8IZC6	927	945	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	927	945	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	927	945	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	927	945	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	927	945	871	930	Domain	Note=Collagen-like 5
Q8IZC6	927	945	931	990	Domain	Note=Collagen-like 6
Q8IZC6	927	945	625	1618	Region	Note=Triple-helical region
Q8IZC6	993	1011	1	1033	Alternative sequence	ID=VSP_030347;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:11347906;Dbxref=PMID:11347906
Q8IZC6	993	1011	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	993	1011	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	993	1011	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	993	1011	1003	1062	Domain	Note=Collagen-like 7
Q8IZC6	993	1011	625	1618	Region	Note=Triple-helical region
Q8IZC6	1083	1098	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1083	1098	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1083	1098	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1083	1098	1066	1125	Domain	Note=Collagen-like 8
Q8IZC6	1083	1098	625	1618	Region	Note=Triple-helical region
Q8IZC6	1098	1113	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1098	1113	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1098	1113	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1098	1113	1066	1125	Domain	Note=Collagen-like 8
Q8IZC6	1098	1113	625	1618	Region	Note=Triple-helical region
Q8IZC6	1149	1167	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1149	1167	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1149	1167	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1149	1167	1126	1185	Domain	Note=Collagen-like 9
Q8IZC6	1149	1167	625	1618	Region	Note=Triple-helical region
Q8IZC6	1167	1185	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1167	1185	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1167	1185	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1167	1185	1126	1185	Domain	Note=Collagen-like 9
Q8IZC6	1167	1185	625	1618	Region	Note=Triple-helical region
Q8IZC6	1203	1239	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1203	1239	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1203	1239	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1203	1239	1192	1251	Domain	Note=Collagen-like 10
Q8IZC6	1203	1239	625	1618	Region	Note=Triple-helical region
Q8IZC6	1366	1384	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1366	1384	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1366	1384	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1366	1384	1318	1378	Domain	Note=Collagen-like 12
Q8IZC6	1366	1384	1382	1441	Domain	Note=Collagen-like 13
Q8IZC6	1366	1384	625	1618	Region	Note=Triple-helical region
Q8IZC6	1384	1402	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1384	1402	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1384	1402	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1384	1402	1382	1441	Domain	Note=Collagen-like 13
Q8IZC6	1384	1402	625	1618	Region	Note=Triple-helical region
Q8IZC6	1456	1492	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1456	1492	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1456	1492	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1456	1492	1442	1501	Domain	Note=Collagen-like 14
Q8IZC6	1456	1492	625	1618	Region	Note=Triple-helical region
Q8IZC6	1528	1546	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1528	1546	625	1621	Chain	ID=PRO_5000089163;Note=Collagen alpha-1(XXVII) chain
Q8IZC6	1528	1546	283	1621	Compositional bias	Note=Pro-rich
Q8IZC6	1528	1546	1502	1561	Domain	Note=Collagen-like 15
Q8IZC6	1528	1546	625	1618	Region	Note=Triple-helical region
Q8IZC6	1624	1646	704	1860	Alternative sequence	ID=VSP_030349;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q8IZC6	1624	1646	1622	1860	Propeptide	ID=PRO_0000314668;Note=C-terminal propeptide

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SNVs in the skipped exons for COL27A1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A1EG-01	exon_skip_498309	116940571	116940624	116940574	116940574	Frame_Shift_Del	C	-	p.P639fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_498311	116956684	116956737	116956729	116956729	Frame_Shift_Del	G	-	p.G688fs
COAD	TCGA-A6-6653-01	exon_skip_498328	116994102	116994138	116994119	116994119	Frame_Shift_Del	G	-	p.V846fs
COAD	TCGA-A6-6653-01	exon_skip_498329	116994102	116994146	116994119	116994119	Frame_Shift_Del	G	-	p.V846fs
LIHC	TCGA-DD-A39Y-01	exon_skip_498328	116994102	116994138	116994119	116994119	Frame_Shift_Del	G	-	p.V846fs
LIHC	TCGA-DD-A39Y-01	exon_skip_498329	116994102	116994146	116994119	116994119	Frame_Shift_Del	G	-	p.V846fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_498375	117031521	117031574	117031545	117031545	Frame_Shift_Del	C	-	p.P1176fs
LUSC	TCGA-18-3416-01	exon_skip_498325	116984503	116984547	116984503	116984503	Nonsense_Mutation	G	T	p.G808_splice
READ	TCGA-AG-A002-01	exon_skip_498356	117012895	117012948	117012943	117012943	Nonsense_Mutation	G	T	p.E1010X
UCEC	TCGA-BS-A0UF-01	exon_skip_498312	116958239	116958292	116958293	116958293	Splice_Site	G	T	e7+1
KIRC	TCGA-B0-5115-01	exon_skip_498318	116968039	116968092	116968037	116968037	Splice_Site	A	G	.
LUSC	TCGA-33-4586-01	exon_skip_498381	117051194	117051247	117051248	117051248	Splice_Site	G	A	p.P1384_splice
STAD	TCGA-HJ-7597-01	exon_skip_498391	117066888	117066953	117066886	117066886	Splice_Site	A	G	.
STAD	TCGA-HJ-7597-01	exon_skip_498391	117066888	117066953	117066886	117066886	Splice_Site	A	G	p.Q1625_splice

- 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
TOV21G_OVARY	116984503	116984547	116984523	116984523	Frame_Shift_Del	C	-	p.G814fs
UMUC6_URINARY_TRACT	116956684	116956737	116956721	116956721	Missense_Mutation	C	T	p.A685V
MG63_BONE	116958239	116958292	116958278	116958278	Missense_Mutation	C	G	p.P704A
MZ7MEL_SKIN	116967382	116967426	116967391	116967391	Missense_Mutation	G	A	p.G712S
C33A_CERVIX	116968039	116968092	116968045	116968045	Missense_Mutation	C	T	p.P726S
HCT15_LARGE_INTESTINE	116973262	116973306	116973281	116973281	Missense_Mutation	G	A	p.G781D
HEC108_ENDOMETRIUM	116973262	116973306	116973294	116973294	Missense_Mutation	G	T	p.K785N
EN_ENDOMETRIUM	116984503	116984547	116984522	116984522	Missense_Mutation	G	C	p.G814A
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116994102	116994146	116994117	116994117	Missense_Mutation	G	A	p.V846M
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116994102	116994138	116994117	116994117	Missense_Mutation	G	A	p.V846M
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116994102	116994146	116994124	116994124	Missense_Mutation	A	T	p.E848V
A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	116994102	116994138	116994124	116994124	Missense_Mutation	A	T	p.E848V
BT20_BREAST	117002714	117002767	117002730	117002730	Missense_Mutation	G	A	p.R933Q
SW1463_LARGE_INTESTINE	117012895	117012948	117012940	117012940	Missense_Mutation	G	A	p.G1009R
SCC90_UPPER_AERODIGESTIVE_TRACT	117027204	117027248	117027229	117027229	Missense_Mutation	C	T	p.P1092L
TCYIK_CERVIX	117027204	117027248	117027229	117027229	Missense_Mutation	C	A	p.P1092Q
OELE_OVARY	117027204	117027248	117027234	117027234	Missense_Mutation	C	T	p.R1094W
NCIH1944_LUNG	117027204	117027248	117027241	117027241	Missense_Mutation	G	T	p.G1096V
GP2D_LARGE_INTESTINE	117027346	117027390	117027349	117027349	Missense_Mutation	G	A	p.V1100M
GP5D_LARGE_INTESTINE	117027346	117027390	117027349	117027349	Missense_Mutation	G	A	p.V1100M
SNU81_LARGE_INTESTINE	117029784	117029837	117029834	117029834	Missense_Mutation	G	T	p.M1166I
SCC15_UPPER_AERODIGESTIVE_TRACT	117031521	117031574	117031527	117031527	Missense_Mutation	C	T	p.L1170F
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	117037941	117038048	117038013	117038013	Missense_Mutation	G	A	p.G1228R
HMEL_BREAST	117037941	117038048	117038034	117038034	Missense_Mutation	G	A	p.V1235I
AGS_STOMACH	117051194	117051247	117051200	117051200	Missense_Mutation	G	C	p.E1369Q
SMSCTR_SOFT_TISSUE	117051522	117051575	117051537	117051537	Missense_Mutation	C	T	p.R1390W
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	117051522	117051575	117051547	117051547	Missense_Mutation	C	T	p.P1393L
HCT116_LARGE_INTESTINE	117051522	117051575	117051556	117051556	Missense_Mutation	A	G	p.K1396R
MDAMB435S_SKIN	117051522	117051575	117051558	117051558	Missense_Mutation	G	A	p.G1397R
M14_SKIN	117051522	117051575	117051567	117051567	Missense_Mutation	G	A	p.G1400S
MDAMB435S_SKIN	117051522	117051575	117051567	117051567	Missense_Mutation	G	A	p.G1400S
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	117051522	117051575	117051570	117051570	Missense_Mutation	G	A	p.A1401T
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	117053090	117053197	117053183	117053183	Missense_Mutation	C	T	p.P1488S
SNU324_PANCREAS	117062350	117062403	117062398	117062398	Missense_Mutation	C	T	p.P1545S
MCAS_OVARY	117063725	117063742	117063737	117063737	Missense_Mutation	C	A	p.P1602T
NCIH847_LUNG	117069949	117070058	117069952	117069952	Missense_Mutation	C	T	p.T1704I
SNU175_LARGE_INTESTINE	117069949	117070058	117069998	117069998	Missense_Mutation	G	T	p.E1719D
TE4_OESOPHAGUS	116968039	116968092	116968042	116968042	Nonsense_Mutation	C	T	p.Q725*
NCIH2073_LUNG	116999261	116999314	116999261	116999261	Splice_Site	G	T	p.G874W
NCIH1993_LUNG	116999261	116999314	116999261	116999261	Splice_Site	G	T	p.G874W
PATU8902_PANCREAS	117012895	117012948	117012895	117012895	Splice_Site	G	A	p.G994R
22RV1_PROSTATE	117037941	117038048	117038048	117038048	Splice_Site	G	A	p.R1239R
NCIH1339_LUNG	117037941	117038048	117038048	117038048	Splice_Site	G	T	p.R1239R
CORL88_LUNG	117051194	117051247	117051195	117051195	Splice_Site	G	A	p.G1367E
LOVO_LARGE_INTESTINE	117062350	117062403	117062403	117062403	Splice_Site	G	A	p.K1546K

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COL27A1

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 COL27A1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL27A1

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RelatedDrugs for COL27A1

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 COL27A1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
COL27A1	C3554594	STEEL SYNDROME	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

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