ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for VCAN

Gene summary

Gene information	Gene symbol	VCAN
	Gene ID	1462
	Gene name	versican
	Synonyms	CSPG2\|ERVR\|GHAP\|PG-M\|WGN\|WGN1
	Cytomap	5q14.2-q14.3
	Type of gene	protein-coding
	Description	versican core proteinchondroitin sulfate proteoglycan core protein 2glial hyaluronate-binding proteinlarge fibroblast proteoglycanversican proteoglycan
	Modification date	20200313
	UniProtAcc	A0A1B1PFX2, D6RGZ6, E9PF17, P13611, Q86W61,
	Context

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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Gene structures and expression levels for VCAN

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000038427

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
TC	UP	ENST00000513016.5	VCAN-209:lncRNA:VCAN	2.816431e+02	1.025657e+00	8.036353e-06	2.172078e-04
TC	DOWN	ENST00000513899.1	VCAN-AS1-202:lncRNA:VCAN	1.943219e+00	-3.972034e+00	4.466015e-05	8.503975e-04
TC	UP	ENST00000343200.9	VCAN-203:protein_coding:VCAN	3.691643e+02	8.412178e-01	4.511387e-05	8.573754e-04
TC	UP	ENST00000503923.1	VCAN-205:retained_intron:VCAN	2.845813e+00	1.022459e+00	6.489891e-05	1.148936e-03

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for VCAN

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_175729	chr5	83519349:83522309:83537007:83542268:83545537:83545650	83537007:83542268
exon_skip_200094	chr5	83521759:83522309:83537007:83542268:83545537:83545650	83537007:83542268
exon_skip_216956	chr5	83512103:83512396:83519349:83522309:83545537:83545650	83519349:83522309
exon_skip_225218	chr5	83512103:83512396:83537007:83542268:83545537:83545650	83537007:83542268
exon_skip_235754	chr5	83512103:83512396:83519349:83522309:83537007:83537247	83519349:83522309
exon_skip_7625	chr5	83541948:83542268:83544965:83545070:83545537:83545650	83544965:83545070

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000265077	83519349	83522309	In-frame
ENST00000265077	83537007	83542268	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000265077	83519349	83522309	In-frame
ENST00000265077	83537007	83542268	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000265077	83519349	83522309	In-frame
ENST00000265077	83537007	83542268	In-frame

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

p-ENSG00000038427_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000265077	12642	3396	83519349	83522309	1609	4568	348	1334
ENST00000265077	12642	3396	83537007	83542268	4570	9830	1335	3088

Loci of skipped exons in MSBB 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
ENST00000265077	12642	3396	83519349	83522309	1609	4568	348	1334
ENST00000265077	12642	3396	83537007	83542268	4570	9830	1335	3088

Loci of skipped exons in Mayo 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
ENST00000265077	12642	3396	83519349	83522309	1609	4568	348	1334
ENST00000265077	12642	3396	83537007	83542268	4570	9830	1335	3088

Lost protein functional features of individual exon skipping events in ROSMAP.

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
P13611	348	1334	348	348	Alternative sequence	ID=VSP_003082;Note=In isoform V1 and isoform V3. P->R;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:2583089,ECO:0000303\|PubMed:7876137,ECO:0000303\|PubMed:7921538;Dbxref=PMID:2583089,PMID:7876137,PMID:7921538
P13611	348	1334	349	3089	Alternative sequence	ID=VSP_003085;Note=In isoform V3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7876137;Dbxref=PMID:7876137
P13611	348	1334	349	1335	Alternative sequence	ID=VSP_003083;Note=In isoform V1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:2583089,ECO:0000303\|PubMed:7921538;Dbxref=PMID:2583089,PMID:7921538
P13611	348	1334	21	3396	Chain	ID=PRO_0000017522;Note=Versican core protein
P13611	348	1334	615	615	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	782	782	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	809	809	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	1332	1332	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	428	428	Natural variant	ID=VAR_020214;Note=G->D;Dbxref=dbSNP:rs2287926
P13611	348	1334	348	1335	Region	Note=GAG-alpha (glucosaminoglycan attachment domain)
P13611	1335	3088	349	3089	Alternative sequence	ID=VSP_003085;Note=In isoform V3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7876137;Dbxref=PMID:7876137
P13611	1335	3088	349	1335	Alternative sequence	ID=VSP_003083;Note=In isoform V1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:2583089,ECO:0000303\|PubMed:7921538;Dbxref=PMID:2583089,PMID:7921538
P13611	1335	3088	1336	3089	Alternative sequence	ID=VSP_003084;Note=In isoform V2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7806529;Dbxref=PMID:7806529
P13611	1335	3088	21	3396	Chain	ID=PRO_0000017522;Note=Versican core protein
P13611	1335	3088	1398	1398	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1442	1442	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1468	1468	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1663	1663	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1898	1898	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2179	2179	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2272	2272	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2280	2280	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2360	2360	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2385	2385	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2392	2392	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2496	2496	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2628	2628	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2934	2934	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	3067	3067	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2116	2116	Modified residue	Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:24275569,ECO:0000269\|PubMed:26091039;Dbxref=PMID:24275569,PMID:26091039
P13611	1335	3088	2608	2608	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q62059
P13611	1335	3088	2617	2617	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P13611	1335	3088	1516	1516	Natural variant	ID=VAR_021959;Note=K->R;Dbxref=dbSNP:rs309559
P13611	1335	3088	1826	1826	Natural variant	ID=VAR_031632;Note=R->H;Dbxref=dbSNP:rs188703
P13611	1335	3088	2301	2301	Natural variant	ID=VAR_020215;Note=F->Y;Dbxref=dbSNP:rs160278
P13611	1335	3088	2315	2315	Natural variant	ID=VAR_020216;Note=V->L;Dbxref=dbSNP:rs3734094
P13611	1335	3088	2937	2937	Natural variant	ID=VAR_021960;Note=D->Y;Dbxref=dbSNP:rs160277
P13611	1335	3088	3011	3011	Natural variant	ID=VAR_031633;Note=N->K;Dbxref=dbSNP:rs16900532
P13611	1335	3088	348	1335	Region	Note=GAG-alpha (glucosaminoglycan attachment domain)
P13611	1335	3088	1336	3089	Region	Note=GAG-beta
P13611	1335	3088	2709	2713	Sequence conflict	Note=IKAEA->EFREV;Ontology_term=ECO:0000305;evidence=ECO:0000305

Lost protein functional features of individual exon skipping events in MSBB.

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
P13611	348	1334	348	348	Alternative sequence	ID=VSP_003082;Note=In isoform V1 and isoform V3. P->R;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:2583089,ECO:0000303\|PubMed:7876137,ECO:0000303\|PubMed:7921538;Dbxref=PMID:2583089,PMID:7876137,PMID:7921538
P13611	348	1334	349	3089	Alternative sequence	ID=VSP_003085;Note=In isoform V3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7876137;Dbxref=PMID:7876137
P13611	348	1334	349	1335	Alternative sequence	ID=VSP_003083;Note=In isoform V1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:2583089,ECO:0000303\|PubMed:7921538;Dbxref=PMID:2583089,PMID:7921538
P13611	348	1334	21	3396	Chain	ID=PRO_0000017522;Note=Versican core protein
P13611	348	1334	615	615	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	782	782	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	809	809	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	1332	1332	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	428	428	Natural variant	ID=VAR_020214;Note=G->D;Dbxref=dbSNP:rs2287926
P13611	348	1334	348	1335	Region	Note=GAG-alpha (glucosaminoglycan attachment domain)
P13611	1335	3088	349	3089	Alternative sequence	ID=VSP_003085;Note=In isoform V3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7876137;Dbxref=PMID:7876137
P13611	1335	3088	349	1335	Alternative sequence	ID=VSP_003083;Note=In isoform V1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:2583089,ECO:0000303\|PubMed:7921538;Dbxref=PMID:2583089,PMID:7921538
P13611	1335	3088	1336	3089	Alternative sequence	ID=VSP_003084;Note=In isoform V2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7806529;Dbxref=PMID:7806529
P13611	1335	3088	21	3396	Chain	ID=PRO_0000017522;Note=Versican core protein
P13611	1335	3088	1398	1398	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1442	1442	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1468	1468	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1663	1663	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1898	1898	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2179	2179	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2272	2272	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2280	2280	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2360	2360	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2385	2385	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2392	2392	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2496	2496	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2628	2628	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2934	2934	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	3067	3067	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2116	2116	Modified residue	Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:24275569,ECO:0000269\|PubMed:26091039;Dbxref=PMID:24275569,PMID:26091039
P13611	1335	3088	2608	2608	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q62059
P13611	1335	3088	2617	2617	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P13611	1335	3088	1516	1516	Natural variant	ID=VAR_021959;Note=K->R;Dbxref=dbSNP:rs309559
P13611	1335	3088	1826	1826	Natural variant	ID=VAR_031632;Note=R->H;Dbxref=dbSNP:rs188703
P13611	1335	3088	2301	2301	Natural variant	ID=VAR_020215;Note=F->Y;Dbxref=dbSNP:rs160278
P13611	1335	3088	2315	2315	Natural variant	ID=VAR_020216;Note=V->L;Dbxref=dbSNP:rs3734094
P13611	1335	3088	2937	2937	Natural variant	ID=VAR_021960;Note=D->Y;Dbxref=dbSNP:rs160277
P13611	1335	3088	3011	3011	Natural variant	ID=VAR_031633;Note=N->K;Dbxref=dbSNP:rs16900532
P13611	1335	3088	348	1335	Region	Note=GAG-alpha (glucosaminoglycan attachment domain)
P13611	1335	3088	1336	3089	Region	Note=GAG-beta
P13611	1335	3088	2709	2713	Sequence conflict	Note=IKAEA->EFREV;Ontology_term=ECO:0000305;evidence=ECO:0000305

Lost protein functional features of individual exon skipping events in Mayo.

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
P13611	348	1334	348	348	Alternative sequence	ID=VSP_003082;Note=In isoform V1 and isoform V3. P->R;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:2583089,ECO:0000303\|PubMed:7876137,ECO:0000303\|PubMed:7921538;Dbxref=PMID:2583089,PMID:7876137,PMID:7921538
P13611	348	1334	349	3089	Alternative sequence	ID=VSP_003085;Note=In isoform V3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7876137;Dbxref=PMID:7876137
P13611	348	1334	349	1335	Alternative sequence	ID=VSP_003083;Note=In isoform V1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:2583089,ECO:0000303\|PubMed:7921538;Dbxref=PMID:2583089,PMID:7921538
P13611	348	1334	21	3396	Chain	ID=PRO_0000017522;Note=Versican core protein
P13611	348	1334	615	615	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	782	782	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	809	809	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	1332	1332	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	348	1334	428	428	Natural variant	ID=VAR_020214;Note=G->D;Dbxref=dbSNP:rs2287926
P13611	348	1334	348	1335	Region	Note=GAG-alpha (glucosaminoglycan attachment domain)
P13611	1335	3088	349	3089	Alternative sequence	ID=VSP_003085;Note=In isoform V3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7876137;Dbxref=PMID:7876137
P13611	1335	3088	349	1335	Alternative sequence	ID=VSP_003083;Note=In isoform V1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:2583089,ECO:0000303\|PubMed:7921538;Dbxref=PMID:2583089,PMID:7921538
P13611	1335	3088	1336	3089	Alternative sequence	ID=VSP_003084;Note=In isoform V2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:7806529;Dbxref=PMID:7806529
P13611	1335	3088	21	3396	Chain	ID=PRO_0000017522;Note=Versican core protein
P13611	1335	3088	1398	1398	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1442	1442	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1468	1468	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1663	1663	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	1898	1898	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2179	2179	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2272	2272	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2280	2280	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2360	2360	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2385	2385	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2392	2392	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2496	2496	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2628	2628	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2934	2934	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	3067	3067	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P13611	1335	3088	2116	2116	Modified residue	Note=Phosphoserine%3B by FAM20C;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:24275569,ECO:0000269\|PubMed:26091039;Dbxref=PMID:24275569,PMID:26091039
P13611	1335	3088	2608	2608	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q62059
P13611	1335	3088	2617	2617	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P13611	1335	3088	1516	1516	Natural variant	ID=VAR_021959;Note=K->R;Dbxref=dbSNP:rs309559
P13611	1335	3088	1826	1826	Natural variant	ID=VAR_031632;Note=R->H;Dbxref=dbSNP:rs188703
P13611	1335	3088	2301	2301	Natural variant	ID=VAR_020215;Note=F->Y;Dbxref=dbSNP:rs160278
P13611	1335	3088	2315	2315	Natural variant	ID=VAR_020216;Note=V->L;Dbxref=dbSNP:rs3734094
P13611	1335	3088	2937	2937	Natural variant	ID=VAR_021960;Note=D->Y;Dbxref=dbSNP:rs160277
P13611	1335	3088	3011	3011	Natural variant	ID=VAR_031633;Note=N->K;Dbxref=dbSNP:rs16900532
P13611	1335	3088	348	1335	Region	Note=GAG-alpha (glucosaminoglycan attachment domain)
P13611	1335	3088	1336	3089	Region	Note=GAG-beta
P13611	1335	3088	2709	2713	Sequence conflict	Note=IKAEA->EFREV;Ontology_term=ECO:0000305;evidence=ECO:0000305

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3'-UTR located exon skipping events that lost miRNA binding sites in VCAN

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for VCAN

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for VCAN

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for VCAN

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for VCAN

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P13611	approved\|vet_approved	DB08818	Hyaluronic acid	small molecule	P13611

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RelatedDiseases for VCAN

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for VCAN

Gene structures and expression levels for VCAN

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for VCAN

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

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

3'-UTR located exon skipping events that lost miRNA binding sites in VCAN

SNVs in the skipped exons for VCAN

AD stage-associated exon skippint events for VCAN

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

Correlation with RNA binding proteins (RBPs) for VCAN

RelatedDrugs for VCAN

RelatedDiseases for VCAN