ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for COL5A1

Gene summary

Gene information	Gene symbol	COL5A1
	Gene ID	1289
	Gene name	collagen type V alpha 1 chain
	Synonyms	EDSC\|EDSCL1
	Cytomap	9q34.3
	Type of gene	protein-coding
	Description	collagen alpha-1(V) chaincollagen, type V, alpha 1
	Modification date	20180523
	UniProtAcc	P20908
	Context	PubMed: COL5A1 [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
COL5A1	GO:1903225	negative regulation of endodermal cell differentiation	23154389

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Exon skipping events across known transcript of Ensembl for COL5A1 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 COL5A1

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 COL5A1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_500901	9	137582757:137582925:137583438:137583674:137591754:137591964	137583438:137583674	ENSG00000130635.11	ENST00000464187.1
exon_skip_500908	9	137619111:137619243:137620515:137620653:137622081:137622321	137620515:137620653	ENSG00000130635.11	ENST00000371817.3
exon_skip_500912	9	137658299:137658344:137658845:137658899:137659155:137659200	137658845:137658899	ENSG00000130635.11	ENST00000371817.3
exon_skip_500913	9	137671947:137671992:137674512:137674566:137676834:137676942	137674512:137674566	ENSG00000130635.11	ENST00000371817.3
exon_skip_500914	9	137674512:137674566:137676834:137676942:137677840:137677894	137676834:137676942	ENSG00000130635.11	ENST00000371817.3
exon_skip_500917	9	137681000:137681054:137686927:137686972:137687107:137687161	137686927:137686972	ENSG00000130635.11	ENST00000371817.3
exon_skip_500918	9	137687107:137687161:137688219:137688264:137688693:137688747	137688219:137688264	ENSG00000130635.11	ENST00000371817.3
exon_skip_500919	9	137704450:137704558:137705828:137705882:137706642:137706750	137705828:137705882	ENSG00000130635.11	ENST00000371817.3
exon_skip_500921	9	137707421:137707475:137707780:137707834:137708871:137708925	137707780:137707834	ENSG00000130635.11	ENST00000371817.3
exon_skip_500922	9	137711961:137712069:137713942:137713996:137714843:137714879	137713942:137713996	ENSG00000130635.11	ENST00000371817.3
exon_skip_500923	9	137717637:137717750:137721821:137721890:137726816:137727050	137721821:137721890	ENSG00000130635.11	ENST00000371817.3
exon_skip_500928	9	137717637:137717750:137721953:137722022:137726816:137727050	137721953:137722022	ENSG00000130635.11	ENST00000371820.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for COL5A1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_500908	9	137619111:137619243:137620515:137620653:137622081:137622321	137620515:137620653	ENSG00000130635.11	ENST00000371817.3
exon_skip_500912	9	137658299:137658344:137658845:137658899:137659155:137659200	137658845:137658899	ENSG00000130635.11	ENST00000371817.3
exon_skip_500913	9	137671947:137671992:137674512:137674566:137676834:137676942	137674512:137674566	ENSG00000130635.11	ENST00000371817.3
exon_skip_500914	9	137674512:137674566:137676834:137676942:137677840:137677894	137676834:137676942	ENSG00000130635.11	ENST00000371817.3
exon_skip_500917	9	137681000:137681054:137686927:137686972:137687107:137687161	137686927:137686972	ENSG00000130635.11	ENST00000371817.3
exon_skip_500918	9	137687107:137687161:137688219:137688264:137688693:137688747	137688219:137688264	ENSG00000130635.11	ENST00000371817.3
exon_skip_500919	9	137704450:137704558:137705828:137705882:137706642:137706750	137705828:137705882	ENSG00000130635.11	ENST00000371817.3
exon_skip_500921	9	137707421:137707475:137707780:137707834:137708871:137708925	137707780:137707834	ENSG00000130635.11	ENST00000371817.3
exon_skip_500922	9	137711961:137712069:137713942:137713996:137714843:137714879	137713942:137713996	ENSG00000130635.11	ENST00000371817.3
exon_skip_500923	9	137717637:137717750:137721821:137721890:137726816:137727050	137721821:137721890	ENSG00000130635.11	ENST00000371817.3
exon_skip_500928	9	137717637:137717750:137721953:137722022:137726816:137727050	137721953:137722022	ENSG00000130635.11	ENST00000371820.3

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for COL5A1

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
ENST00000371817	137620515	137620653	In-frame
ENST00000371817	137658845	137658899	In-frame
ENST00000371817	137674512	137674566	In-frame
ENST00000371817	137676834	137676942	In-frame
ENST00000371817	137686927	137686972	In-frame
ENST00000371817	137688219	137688264	In-frame
ENST00000371817	137705828	137705882	In-frame
ENST00000371817	137707780	137707834	In-frame
ENST00000371817	137713942	137713996	In-frame
ENST00000371817	137721821	137721890	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
ENST00000371817	137620515	137620653	In-frame
ENST00000371817	137658845	137658899	In-frame
ENST00000371817	137674512	137674566	In-frame
ENST00000371817	137676834	137676942	In-frame
ENST00000371817	137686927	137686972	In-frame
ENST00000371817	137688219	137688264	In-frame
ENST00000371817	137705828	137705882	In-frame
ENST00000371817	137707780	137707834	In-frame
ENST00000371817	137713942	137713996	In-frame
ENST00000371817	137721821	137721890	In-frame

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Infer the effects of exon skipping event on protein functional features for COL5A1

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
ENST00000371817	8485	1838	137620515	137620653	1201	1338	262	308
ENST00000371817	8485	1838	137658845	137658899	2548	2601	711	729
ENST00000371817	8485	1838	137674512	137674566	2845	2898	810	828
ENST00000371817	8485	1838	137676834	137676942	2899	3006	828	864
ENST00000371817	8485	1838	137686927	137686972	3115	3159	900	915
ENST00000371817	8485	1838	137688219	137688264	3214	3258	933	948
ENST00000371817	8485	1838	137705828	137705882	4267	4320	1284	1302
ENST00000371817	8485	1838	137707780	137707834	4483	4536	1356	1374
ENST00000371817	8485	1838	137713942	137713996	4969	5022	1518	1536
ENST00000371817	8485	1838	137721821	137721890	5482	5550	1689	1712

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
ENST00000371817	8485	1838	137620515	137620653	1201	1338	262	308
ENST00000371817	8485	1838	137658845	137658899	2548	2601	711	729
ENST00000371817	8485	1838	137674512	137674566	2845	2898	810	828
ENST00000371817	8485	1838	137676834	137676942	2899	3006	828	864
ENST00000371817	8485	1838	137686927	137686972	3115	3159	900	915
ENST00000371817	8485	1838	137688219	137688264	3214	3258	933	948
ENST00000371817	8485	1838	137705828	137705882	4267	4320	1284	1302
ENST00000371817	8485	1838	137707780	137707834	4483	4536	1356	1374
ENST00000371817	8485	1838	137713942	137713996	4969	5022	1518	1536
ENST00000371817	8485	1838	137721821	137721890	5482	5550	1689	1712

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
P20908	262	308	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	262	308	262	262	Modified residue	Note=Sulfotyrosine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P20908	262	308	263	263	Modified residue	Note=Sulfotyrosine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P20908	262	308	231	443	Region	Note=Nonhelical region
P20908	711	729	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	711	729	717	717	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	711	729	720	720	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	711	729	726	726	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	711	729	559	1570	Region	Note=Triple-helical region
P20908	711	729	727	727	Sequence conflict	Note=G->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20908	810	828	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	810	828	810	810	Modified residue	Note=5-hydroxylysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	810	828	816	816	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	810	828	819	819	Modified residue	Note=5-hydroxylysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	810	828	559	1570	Region	Note=Triple-helical region
P20908	828	864	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	828	864	834	834	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	828	864	846	846	Modified residue	Note=5-hydroxylysine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	828	864	861	861	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	828	864	864	864	Modified residue	Note=5-hydroxylysine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	828	864	863	863	Natural variant	ID=VAR_075702;Note=E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26477546;Dbxref=dbSNP:rs139788610,PMID:26477546
P20908	828	864	559	1570	Region	Note=Triple-helical region
P20908	828	864	849	855	Sequence conflict	Note=GGPNGDP->IGPPGPR;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20908	900	915	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	900	915	903	903	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	900	915	906	906	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	900	915	908	908	Natural variant	ID=VAR_064702;Note=Found in a renal cell carcinoma case%3B somatic mutation. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21248752;Dbxref=dbSNP:rs772211736,PMID:21248752
P20908	900	915	559	1570	Region	Note=Triple-helical region
P20908	933	948	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	933	948	945	945	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8181482;Dbxref=PMID:8181482
P20908	933	948	559	1570	Region	Note=Triple-helical region
P20908	1284	1302	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	1284	1302	559	1570	Region	Note=Triple-helical region
P20908	1284	1302	1295	1299	Sequence conflict	Note=LPGEG->PSGRS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20908	1356	1374	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	1356	1374	559	1570	Region	Note=Triple-helical region
P20908	1518	1536	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	1518	1536	559	1570	Region	Note=Triple-helical region
P20908	1689	1712	1690	1711	Alternative sequence	ID=VSP_059655;Note=In isoform 2. ARITSWPKENPGSWFSEFKRGK->SKMARWPKEQPSTWYSQYKRGS
P20908	1689	1712	1680	1835	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00793
P20908	1689	1712	1609	1837	Domain	Note=Fibrillar collagen NC1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00793
P20908	1689	1712	1606	1838	Propeptide	ID=PRO_0000005757;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
P20908	262	308	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	262	308	262	262	Modified residue	Note=Sulfotyrosine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P20908	262	308	263	263	Modified residue	Note=Sulfotyrosine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P20908	262	308	231	443	Region	Note=Nonhelical region
P20908	711	729	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	711	729	717	717	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	711	729	720	720	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	711	729	726	726	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	711	729	559	1570	Region	Note=Triple-helical region
P20908	711	729	727	727	Sequence conflict	Note=G->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20908	810	828	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	810	828	810	810	Modified residue	Note=5-hydroxylysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	810	828	816	816	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	810	828	819	819	Modified residue	Note=5-hydroxylysine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:2496661;Dbxref=PMID:2496661
P20908	810	828	559	1570	Region	Note=Triple-helical region
P20908	828	864	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	828	864	834	834	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	828	864	846	846	Modified residue	Note=5-hydroxylysine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	828	864	861	861	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	828	864	864	864	Modified residue	Note=5-hydroxylysine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	828	864	863	863	Natural variant	ID=VAR_075702;Note=E->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26477546;Dbxref=dbSNP:rs139788610,PMID:26477546
P20908	828	864	559	1570	Region	Note=Triple-helical region
P20908	828	864	849	855	Sequence conflict	Note=GGPNGDP->IGPPGPR;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20908	900	915	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	900	915	903	903	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	900	915	906	906	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:2496661,ECO:0000269\|PubMed:8181482;Dbxref=PMID:2496661,PMID:8181482
P20908	900	915	908	908	Natural variant	ID=VAR_064702;Note=Found in a renal cell carcinoma case%3B somatic mutation. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21248752;Dbxref=dbSNP:rs772211736,PMID:21248752
P20908	900	915	559	1570	Region	Note=Triple-helical region
P20908	933	948	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	933	948	945	945	Modified residue	Note=Hydroxyproline;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8181482;Dbxref=PMID:8181482
P20908	933	948	559	1570	Region	Note=Triple-helical region
P20908	1284	1302	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	1284	1302	559	1570	Region	Note=Triple-helical region
P20908	1284	1302	1295	1299	Sequence conflict	Note=LPGEG->PSGRS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P20908	1356	1374	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	1356	1374	559	1570	Region	Note=Triple-helical region
P20908	1518	1536	38	1605	Chain	ID=PRO_0000005756;Note=Collagen alpha-1(V) chain
P20908	1518	1536	559	1570	Region	Note=Triple-helical region
P20908	1689	1712	1690	1711	Alternative sequence	ID=VSP_059655;Note=In isoform 2. ARITSWPKENPGSWFSEFKRGK->SKMARWPKEQPSTWYSQYKRGS
P20908	1689	1712	1680	1835	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00793
P20908	1689	1712	1609	1837	Domain	Note=Fibrillar collagen NC1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00793
P20908	1689	1712	1606	1838	Propeptide	ID=PRO_0000005757;Note=C-terminal propeptide

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SNVs in the skipped exons for COL5A1

- 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_500919	137705829	137705882	137705876	137705876	Frame_Shift_Del	C	-	p.G1300fs
ESCA	TCGA-L7-A6VZ-01	exon_skip_500908	137620516	137620653	137620555	137620555	Nonsense_Mutation	G	T	p.E276*
ESCA	TCGA-L7-A6VZ-01	exon_skip_500908	137620516	137620653	137620555	137620555	Nonsense_Mutation	G	T	p.E276X
LUAD	TCGA-55-A490-01	exon_skip_500917	137686928	137686972	137686946	137686946	Nonsense_Mutation	G	T	p.G907*
ACC	TCGA-OR-A5KB-01	exon_skip_500912	137658846	137658899	137658845	137658845	Splice_Site	G	T	.
GBM	TCGA-14-1395-01	exon_skip_500914	137676835	137676942	137676834	137676834	Splice_Site	G	T	p.G829_splice
STAD	TCGA-BR-8363-01	exon_skip_500914	137676835	137676942	137676834	137676834	Splice_Site	G	-	.
STAD	TCGA-BR-8363-01	exon_skip_500914	137676835	137676942	137676834	137676834	Splice_Site	G	-	p.G829_splice
LIHC	TCGA-RG-A7D4-01	exon_skip_500922	137713943	137713996	137713941	137713941	Splice_Site	A	T	.

- 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
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137686928	137686972	137686932	137686932	Frame_Shift_Del	C	-	p.T902fs
PACADD137_PANCREAS	137686928	137686972	137686953	137686953	Frame_Shift_Del	G	-	p.R909fs
HCT116_LARGE_INTESTINE	137705829	137705882	137705875	137705876	Frame_Shift_Ins	-	C	p.GP1300fs
NCIH727_LUNG	137620516	137620653	137620530	137620532	In_Frame_Del	CGG	-	p.G268del
L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137620516	137620653	137620520	137620520	Missense_Mutation	C	T	p.T264M
HS936T_SKIN	137620516	137620653	137620531	137620531	Missense_Mutation	G	A	p.G268S
JMSU1_URINARY_TRACT	137620516	137620653	137620555	137620555	Missense_Mutation	G	A	p.E276K
RL952_ENDOMETRIUM	137620516	137620653	137620570	137620570	Missense_Mutation	G	A	p.E281K
TE1_OESOPHAGUS	137620516	137620653	137620594	137620594	Missense_Mutation	G	A	p.E289K
TE11_OESOPHAGUS	137620516	137620653	137620627	137620627	Missense_Mutation	G	T	p.A300S
LS411N_LARGE_INTESTINE	137620516	137620653	137620649	137620649	Missense_Mutation	C	T	p.P307L
U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	137658846	137658899	137658856	137658856	Missense_Mutation	G	A	p.G715E
HCC44_LUNG	137674513	137674566	137674557	137674557	Missense_Mutation	G	T	p.K825N
HCC44_LUNG	137676835	137676942	137676856	137676856	Missense_Mutation	C	G	p.P836A
KYSE520_OESOPHAGUS	137676835	137676942	137676889	137676889	Missense_Mutation	G	A	p.G847S
MCC13_SKIN	137676835	137676942	137676920	137676920	Missense_Mutation	C	T	p.P857L
BICR56_UPPER_AERODIGESTIVE_TRACT	137686928	137686972	137686949	137686949	Missense_Mutation	C	T	p.P908S
NCIH2073_LUNG	137686928	137686972	137686956	137686956	Missense_Mutation	G	T	p.G910V
NCIH1993_LUNG	137686928	137686972	137686956	137686956	Missense_Mutation	G	T	p.G910V
TE125T_FIBROBLAST	137688220	137688264	137688232	137688232	Missense_Mutation	G	C	p.G938R
NCIH1755_LUNG	137688220	137688264	137688238	137688238	Missense_Mutation	G	A	p.G940S
LNCAPCLONEFGC_PROSTATE	137688220	137688264	137688248	137688248	Missense_Mutation	G	A	p.G943D
MEWO_SKIN	137688220	137688264	137688253	137688253	Missense_Mutation	C	T	p.P945S
CW2_LARGE_INTESTINE	137705829	137705882	137705839	137705839	Missense_Mutation	G	A	p.G1288D
NUGC3_STOMACH	137705829	137705882	137705875	137705875	Missense_Mutation	G	C	p.G1300A
GCT_SOFT_TISSUE	137707781	137707834	137707809	137707809	Missense_Mutation	G	A	p.G1366E
HEC108_ENDOMETRIUM	137707781	137707834	137707826	137707826	Missense_Mutation	G	A	p.G1372R
MDAMB436_BREAST	137713943	137713996	137713961	137713961	Missense_Mutation	G	T	p.G1525C
MM127_SKIN	137674513	137674566	137674566	137674566	Splice_Site	G	A	p.R828R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COL5A1

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 COL5A1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COL5A1

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RelatedDrugs for COL5A1

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 COL5A1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
COL5A1	C4225429	Ehlers-Danlos syndrome classic type	4	UNIPROT
COL5A1	C0268335	Ehlers-Danlos syndrome type 1	3	CTD_human;ORPHANET
COL5A1	C0268336	Ehlers-Danlos syndrome type 2	2	CTD_human;ORPHANET
COL5A1	C0000786	Spontaneous abortion	1	CTD_human
COL5A1	C0022548	Keloid	1	CTD_human
COL5A1	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
COL5A1	C0024667	Animal Mammary Neoplasms	1	CTD_human
COL5A1	C0024668	Mammary Neoplasms, Experimental	1	CTD_human

	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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