ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for VWF

Gene summary

Gene information	Gene symbol	VWF
	Gene ID	7450
	Gene name	von Willebrand factor
	Synonyms	F8VWF\|VWD
	Cytomap	12p13.31
	Type of gene	protein-coding
	Description	von Willebrand factorcoagulation factor VIII VWF
	Modification date	20180527
	UniProtAcc	P04275
	Context	PubMed: VWF [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
VWF	GO:0007155	cell adhesion	10764791
VWF	GO:0030168	platelet activation	8565074
VWF	GO:0031589	cell-substrate adhesion	9079671
VWF	GO:0051260	protein homooligomerization	8874190

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Exon skipping events across known transcript of Ensembl for VWF 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 VWF

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 VWF

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_89354	12	6058039:6058369:6058951:6059049:6061009:6061049	6058951:6059049	ENSG00000110799.9	ENST00000261405.5
exon_skip_89357	12	6058999:6059049:6061009:6061049:6061556:6061685	6061009:6061049	ENSG00000110799.9	ENST00000261405.5
exon_skip_89358	12	6061556:6061685:6062661:6062760:6076651:6076768	6062661:6062760	ENSG00000110799.9	ENST00000261405.5
exon_skip_89361	12	6092315:6092420:6094210:6094285:6094728:6094831	6094210:6094285	ENSG00000110799.9	ENST00000261405.5
exon_skip_89363	12	6128693:6128909:6130289:6130734:6131065:6131092	6130289:6130734	ENSG00000110799.9	ENST00000539641.1
exon_skip_89365	12	6131065:6131201:6131905:6132064:6132796:6132953	6131905:6132064	ENSG00000110799.9	ENST00000261405.5
exon_skip_89366	12	6131905:6132064:6132796:6132953:6134745:6134859	6132796:6132953	ENSG00000110799.9	ENST00000261405.5
exon_skip_89368	12	6134745:6134859:6135071:6135212:6138507:6138654	6135071:6135212	ENSG00000110799.9	ENST00000261405.5
exon_skip_89370	12	6138507:6138654:6140609:6140744:6143853:6143992	6140609:6140744	ENSG00000110799.9	ENST00000261405.5
exon_skip_89372	12	6145553:6145657:6153456:6153617:6155888:6155983	6153456:6153617	ENSG00000110799.9	ENST00000261405.5
exon_skip_89374	12	6166022:6166238:6167014:6167210:6172119:6172220	6167014:6167210	ENSG00000110799.9	ENST00000261405.5
exon_skip_89375	12	6184500:6184717:6204625:6204750:6219539:6219748	6204625:6204750	ENSG00000110799.9	ENST00000261405.5
exon_skip_89376	12	6220031:6220134:6230339:6230504:6232307:6232362	6230339:6230504	ENSG00000110799.9	ENST00000261405.5,ENST00000538635.1
exon_skip_89377	12	6230342:6230504:6231890:6232132:6232307:6232362	6231890:6232132	ENSG00000110799.9	ENST00000321023.1,ENST00000538563.1,ENST00000572068.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for VWF

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_89354	12	6058039:6058369:6058951:6059049:6061009:6061049	6058951:6059049	ENSG00000110799.9	ENST00000261405.5
exon_skip_89357	12	6058999:6059049:6061009:6061049:6061556:6061685	6061009:6061049	ENSG00000110799.9	ENST00000261405.5
exon_skip_89358	12	6061556:6061685:6062661:6062760:6076651:6076768	6062661:6062760	ENSG00000110799.9	ENST00000261405.5
exon_skip_89361	12	6092315:6092420:6094210:6094285:6094728:6094831	6094210:6094285	ENSG00000110799.9	ENST00000261405.5
exon_skip_89363	12	6128693:6128909:6130289:6130734:6131065:6131092	6130289:6130734	ENSG00000110799.9	ENST00000539641.1
exon_skip_89365	12	6131065:6131201:6131905:6132064:6132796:6132953	6131905:6132064	ENSG00000110799.9	ENST00000261405.5
exon_skip_89366	12	6131905:6132064:6132796:6132953:6134745:6134859	6132796:6132953	ENSG00000110799.9	ENST00000261405.5
exon_skip_89368	12	6134745:6134859:6135071:6135212:6138507:6138654	6135071:6135212	ENSG00000110799.9	ENST00000261405.5
exon_skip_89370	12	6138507:6138654:6140609:6140744:6143853:6143992	6140609:6140744	ENSG00000110799.9	ENST00000261405.5
exon_skip_89372	12	6145553:6145657:6153456:6153617:6155888:6155983	6153456:6153617	ENSG00000110799.9	ENST00000261405.5
exon_skip_89374	12	6166022:6166238:6167014:6167210:6172119:6172220	6167014:6167210	ENSG00000110799.9	ENST00000261405.5
exon_skip_89375	12	6184500:6184717:6204625:6204750:6219539:6219748	6204625:6204750	ENSG00000110799.9	ENST00000261405.5
exon_skip_89376	12	6220031:6220134:6230339:6230504:6232307:6232362	6230339:6230504	ENSG00000110799.9	ENST00000261405.5,ENST00000538635.1
exon_skip_89377	12	6230342:6230504:6231890:6232132:6232307:6232362	6231890:6232132	ENSG00000110799.9	ENST00000321023.1,ENST00000572068.1,ENST00000538563.1

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 VWF

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
ENST00000261405	6058951	6059049	Frame-shift
ENST00000261405	6061009	6061049	Frame-shift
ENST00000261405	6132796	6132953	Frame-shift
ENST00000261405	6153456	6153617	Frame-shift
ENST00000261405	6167014	6167210	Frame-shift
ENST00000261405	6204625	6204750	Frame-shift
ENST00000261405	6062661	6062760	In-frame
ENST00000261405	6094210	6094285	In-frame
ENST00000261405	6131905	6132064	In-frame
ENST00000261405	6135071	6135212	In-frame
ENST00000261405	6140609	6140744	In-frame
ENST00000261405	6230339	6230504	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
ENST00000261405	6058951	6059049	Frame-shift
ENST00000261405	6061009	6061049	Frame-shift
ENST00000261405	6132796	6132953	Frame-shift
ENST00000261405	6153456	6153617	Frame-shift
ENST00000261405	6167014	6167210	Frame-shift
ENST00000261405	6204625	6204750	Frame-shift
ENST00000261405	6062661	6062760	In-frame
ENST00000261405	6094210	6094285	In-frame
ENST00000261405	6131905	6132064	In-frame
ENST00000261405	6135071	6135212	In-frame
ENST00000261405	6140609	6140744	In-frame
ENST00000261405	6230339	6230504	In-frame

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

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
ENST00000261405	8855	2813	6230339	6230504	311	475	18	73
ENST00000261405	8855	2813	6140609	6140744	2941	3075	895	940
ENST00000261405	8855	2813	6135071	6135212	3223	3363	989	1036
ENST00000261405	8855	2813	6131905	6132064	3635	3793	1126	1179
ENST00000261405	8855	2813	6094210	6094285	7157	7231	2300	2325
ENST00000261405	8855	2813	6062661	6062760	8143	8241	2629	2662

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
ENST00000261405	8855	2813	6230339	6230504	311	475	18	73
ENST00000261405	8855	2813	6140609	6140744	2941	3075	895	940
ENST00000261405	8855	2813	6135071	6135212	3223	3363	989	1036
ENST00000261405	8855	2813	6131905	6132064	3635	3793	1126	1179
ENST00000261405	8855	2813	6094210	6094285	7157	7231	2300	2325
ENST00000261405	8855	2813	6062661	6062760	8143	8241	2629	2662

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
P04275	18	73	1	18	Alternative sequence	ID=VSP_056527;Note=In isoform 2. MIPARFAGVLLALALILP->MGAQDEEEGIQDLDGLLVFDKIVEVTLLNLPWYNEETEGQRGEMTAPKSPRAKIR;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	18	73	23	763	Chain	ID=PRO_0000022682;Note=von Willebrand antigen 2
P04275	18	73	34	240	Domain	Note=VWFD 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00580
P04275	18	73	1	22	Signal peptide	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3495266;Dbxref=PMID:3495266
P04275	895	940	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	895	940	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	895	940	867	996	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	895	940	889	1031	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	895	940	898	993	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	895	940	914	921	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	895	940	866	1074	Domain	Note=VWFD 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00580
P04275	989	1036	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	989	1036	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	989	1036	867	996	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	989	1036	889	1031	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	989	1036	898	993	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	989	1036	866	1074	Domain	Note=VWFD 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00580
P04275	1126	1179	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	1126	1179	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	1126	1179	1126	1130	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	1126	1179	1149	1169	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	1126	1179	1153	1165	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	1126	1179	1146	1196	Domain	Note=TIL 4
P04275	1126	1179	1147	1147	Glycosylation	Note=N-linked (GlcNAc...) asparagine%3B atypical
P04275	1126	1179	1149	1149	Mutagenesis	Note=Reduced secretion and increased intracellular retention. Similar phenotype%3B when associated with S-1169. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11698279;Dbxref=PMID:11698279
P04275	1126	1179	1169	1169	Mutagenesis	Note=Reduced secretion and increased intracellular retention. Similar phenotype%3B when associated with R-1149. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11698279;Dbxref=PMID:11698279
P04275	1126	1179	1149	1149	Natural variant	ID=VAR_064925;Note=In VWD1%3B reduced secretion of homodimers and heterodimers with wild type VWD and increased degradation by the proteasome. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11698279;Dbxref=dbSNP:rs61748511,PMID:11698279
P04275	2300	2325	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	2300	2325	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	2300	2325	2255	2328	Domain	Note=VWFC 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00220
P04275	2629	2662	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	2629	2662	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	2629	2662	2580	2645	Domain	Note=VWFC 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00220

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
P04275	18	73	1	18	Alternative sequence	ID=VSP_056527;Note=In isoform 2. MIPARFAGVLLALALILP->MGAQDEEEGIQDLDGLLVFDKIVEVTLLNLPWYNEETEGQRGEMTAPKSPRAKIR;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	18	73	23	763	Chain	ID=PRO_0000022682;Note=von Willebrand antigen 2
P04275	18	73	34	240	Domain	Note=VWFD 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00580
P04275	18	73	1	22	Signal peptide	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3495266;Dbxref=PMID:3495266
P04275	895	940	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	895	940	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	895	940	867	996	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	895	940	889	1031	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	895	940	898	993	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	895	940	914	921	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	895	940	866	1074	Domain	Note=VWFD 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00580
P04275	989	1036	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	989	1036	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	989	1036	867	996	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	989	1036	889	1031	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	989	1036	898	993	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	989	1036	866	1074	Domain	Note=VWFD 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00580
P04275	1126	1179	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	1126	1179	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	1126	1179	1126	1130	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	1126	1179	1149	1169	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	1126	1179	1153	1165	Disulfide bond	Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:3502076;Dbxref=PMID:3502076
P04275	1126	1179	1146	1196	Domain	Note=TIL 4
P04275	1126	1179	1147	1147	Glycosylation	Note=N-linked (GlcNAc...) asparagine%3B atypical
P04275	1126	1179	1149	1149	Mutagenesis	Note=Reduced secretion and increased intracellular retention. Similar phenotype%3B when associated with S-1169. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11698279;Dbxref=PMID:11698279
P04275	1126	1179	1169	1169	Mutagenesis	Note=Reduced secretion and increased intracellular retention. Similar phenotype%3B when associated with R-1149. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11698279;Dbxref=PMID:11698279
P04275	1126	1179	1149	1149	Natural variant	ID=VAR_064925;Note=In VWD1%3B reduced secretion of homodimers and heterodimers with wild type VWD and increased degradation by the proteasome. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11698279;Dbxref=dbSNP:rs61748511,PMID:11698279
P04275	2300	2325	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	2300	2325	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	2300	2325	2255	2328	Domain	Note=VWFC 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00220
P04275	2629	2662	315	2813	Alternative sequence	ID=VSP_056529;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P04275	2629	2662	764	2813	Chain	ID=PRO_0000022683;Note=von Willebrand factor
P04275	2629	2662	2580	2645	Domain	Note=VWFC 3;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00220

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SNVs in the skipped exons for VWF

- 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.

VWF_STAD_exon_skip_89372_psi_boxplot.png
boxplot

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

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A3A0-01	exon_skip_89357	6061010	6061049	6061043	6061043	Frame_Shift_Del	T	-	p.I2708fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_89361	6094211	6094285	6094243	6094243	Frame_Shift_Del	T	-	p.N2315fs
LIHC	TCGA-DD-A39Y-01	exon_skip_89368	6135072	6135212	6135122	6135122	Frame_Shift_Del	C	-	p.D1020fs
LIHC	TCGA-DD-A39Y-01	exon_skip_89368	6135072	6135212	6135183	6135183	Frame_Shift_Del	A	-	p.F999fs
LUAD	TCGA-44-7660-01	exon_skip_89370	6140610	6140744	6140700	6140700	Frame_Shift_Del	C	-	p.G910fs
LIHC	TCGA-DD-A3A0-01	exon_skip_89370	6140610	6140744	6140721	6140721	Frame_Shift_Del	C	-	p.G903fs
STAD	TCGA-BR-8487-01	exon_skip_89372	6153457	6153617	6153464	6153464	Frame_Shift_Del	G	-	p.P812fs
STAD	TCGA-BR-8059-01	exon_skip_89372	6153457	6153617	6153589	6153589	Frame_Shift_Del	G	-	p.M771fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_89376	6230340	6230504	6230369	6230369	Frame_Shift_Del	C	-	p.G64fs
HNSC	TCGA-QK-A6V9-01	exon_skip_89354	6058952	6059049	6058985	6058986	Frame_Shift_Ins	-	T	p.I2740fs
LIHC	TCGA-BC-A112-01	exon_skip_89358	6062662	6062760	6062758	6062759	Frame_Shift_Ins	-	C	p.V2630fs
ACC	TCGA-OR-A5L9-01	exon_skip_89366	6132797	6132953	6132943	6132944	Frame_Shift_Ins	-	C	p.A1078fs
ESCA	TCGA-LN-A5U7-01	exon_skip_89374	6167015	6167210	6167105	6167105	Nonsense_Mutation	C	A	p.E547*
ESCA	TCGA-LN-A5U7-01	exon_skip_89374	6167015	6167210	6167105	6167105	Nonsense_Mutation	C	A	p.E547X
BRCA	TCGA-A2-A0YT-01	exon_skip_89376	6230340	6230504	6230460	6230460	Nonsense_Mutation	G	A	p.R34*
BRCA	TCGA-C8-A1HN-01	exon_skip_89376	6230340	6230504	6230460	6230460	Nonsense_Mutation	G	A	p.R34*
SKCM	TCGA-EE-A2GP-06	exon_skip_89376	6230340	6230504	6230460	6230460	Nonsense_Mutation	G	A	p.R34*
SKCM	TCGA-EE-A2GP-06	exon_skip_89376	6230340	6230504	6230460	6230460	Nonsense_Mutation	G	A	p.R34X
LUSC	TCGA-66-2789-01	exon_skip_89357	6061010	6061049	6061009	6061009	Splice_Site	C	A	p.C2719_splice
STAD	TCGA-BR-8078-01	exon_skip_89368	6135072	6135212	6135070	6135070	Splice_Site	A	G	.
STAD	TCGA-BR-8078-01	exon_skip_89368	6135072	6135212	6135070	6135070	Splice_Site	A	G	p.K1036_splice
SKCM	TCGA-EE-A2M6-06	exon_skip_89368	6135072	6135212	6135213	6135213	Splice_Site	C	T	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-BR-8059-01
	Cancer type: STAD
	ESID: exon_skip_89372
	Skipped exon start: 6153457
	Skipped exon end: 6153617
	Mutation start: 6153589
	Mutation end: 6153589
	Mutation type: Frame_Shift_Del
	Reference seq: G
	Mutation seq: -
	AAchange: p.M771fs
exon_skip_315782_STAD_TCGA-BR-8059-01.png
exon_skip_315786_STAD_TCGA-BR-8059-01.png
exon_skip_467713_STAD_TCGA-BR-8059-01.png
exon_skip_89372_STAD_TCGA-BR-8059-01.png

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

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
SW48_LARGE_INTESTINE	6230340	6230504	6230369	6230369	Frame_Shift_Del	C	-	p.G64fs
HEC1A_ENDOMETRIUM	6153457	6153617	6153463	6153464	Frame_Shift_Ins	-	G	p.P812fs
LS411N_LARGE_INTESTINE	6153457	6153617	6153463	6153464	Frame_Shift_Ins	-	G	p.P812fs
NCIH226_LUNG	6058952	6059049	6058994	6058995	Missense_Mutation	TC	CT	p.G2737E
GP2D_LARGE_INTESTINE	6058952	6059049	6059029	6059029	Missense_Mutation	C	T	p.D2726N
GP5D_LARGE_INTESTINE	6058952	6059049	6059029	6059029	Missense_Mutation	C	T	p.D2726N
NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6058952	6059049	6059032	6059032	Missense_Mutation	T	C	p.N2725D
EW8_BONE	6061010	6061049	6061031	6061031	Missense_Mutation	G	T	p.P2712T
RH1_SOFT_TISSUE	6061010	6061049	6061031	6061031	Missense_Mutation	G	T	p.P2712T
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6061010	6061049	6061042	6061042	Missense_Mutation	A	C	p.I2708S
SH4_SKIN	6062662	6062760	6062751	6062751	Missense_Mutation	C	T	p.E2633K
SW1417_LARGE_INTESTINE	6094211	6094285	6094256	6094256	Missense_Mutation	G	A	p.R2311C
D336MG_CENTRAL_NERVOUS_SYSTEM	6132797	6132953	6132799	6132799	Missense_Mutation	C	T	p.C1126Y
CCK81_LARGE_INTESTINE	6132797	6132953	6132917	6132917	Missense_Mutation	C	T	p.D1087N
NCIH1915_LUNG	6135072	6135212	6135193	6135193	Missense_Mutation	C	A	p.C996F
OSC20_UPPER_AERODIGESTIVE_TRACT	6135072	6135212	6135199	6135199	Missense_Mutation	C	T	p.G994D
SW48_LARGE_INTESTINE	6140610	6140744	6140621	6140621	Missense_Mutation	A	G	p.F937L
DMS79_LUNG	6140610	6140744	6140722	6140722	Missense_Mutation	C	A	p.G903V
HEC50B_ENDOMETRIUM	6153457	6153617	6153495	6153495	Missense_Mutation	T	A	p.M802L
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6153457	6153617	6153551	6153551	Missense_Mutation	G	T	p.A783D
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6167015	6167210	6167021	6167021	Missense_Mutation	G	A	p.R575C
MELJUSO_SKIN	6167015	6167210	6167027	6167027	Missense_Mutation	T	C	p.N573D
SNU1040_LARGE_INTESTINE	6167015	6167210	6167110	6167110	Missense_Mutation	C	T	p.R545Q
C33A_CERVIX	6167015	6167210	6167119	6167119	Missense_Mutation	G	A	p.A542V
NCIH596_LUNG	6204626	6204750	6204642	6204642	Missense_Mutation	G	A	p.S214F
DETROIT562_UPPER_AERODIGESTIVE_TRACT	6204626	6204750	6204685	6204685	Missense_Mutation	A	G	p.C200R
HEC251_ENDOMETRIUM	6230340	6230504	6230361	6230361	Missense_Mutation	T	G	p.K67Q
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6230340	6230504	6230400	6230400	Missense_Mutation	C	T	p.A54T
RL952_ENDOMETRIUM	6230340	6230504	6230410	6230410	Missense_Mutation	C	T	p.M50I
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6230340	6230504	6230501	6230501	Missense_Mutation	G	A	p.T20I
FTC238_THYROID	6140610	6140744	6140639	6140639	Nonsense_Mutation	C	A	p.G931*
CHL1_SKIN	6204626	6204750	6204710	6204710	Nonsense_Mutation	C	T	p.W191*
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	6167015	6167210	6167015	6167015	Splice_Site	T	C	p.T577A
SNU475_LIVER	6204626	6204750	6204626	6204626	Splice_Site	C	G	p.K219N

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

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 VWF

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

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RelatedDrugs for VWF

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
	P04275	DB00025	Antihemophilic factor, human recombinant	von Willebrand factor	biotech	approved\|investigational
	P04275	DB06081	Caplacizumab	von Willebrand factor	biotech	approved\|investigational
	P04275	DB11606	Susoctocog alfa	von Willebrand factor	biotech	approved\|investigational

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RelatedDiseases for VWF

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
VWF	C1264040	von Willebrand Disease, Type 2	29	CTD_human;UNIPROT
VWF	C0020538	Hypertensive disease	3	CTD_human
VWF	C1264041	von Willebrand Disease, Type 3	3	CTD_human;ORPHANET;UNIPROT
VWF	C0040053	Thrombosis	2	CTD_human
VWF	C1264039	von Willebrand Disease, Type 1	2	CTD_human;ORPHANET;UNIPROT
VWF	C0001956	alcohol use disorder	1	PSYGENET
VWF	C0001973	Alcoholic Intoxication, Chronic	1	PSYGENET
VWF	C0004238	Atrial Fibrillation	1	CTD_human
VWF	C0007222	Cardiovascular Diseases	1	CTD_human
VWF	C0018801	Heart failure	1	CTD_human
VWF	C0752143	Intracranial Thrombosis	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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