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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for THSD1 |
Gene summary |
Gene information | Gene symbol | THSD1 | Gene ID | 55901 |
Gene name | thrombospondin type 1 domain containing 1 | |
Synonyms | ANIB12|TMTSP|UNQ3010 | |
Cytomap | 13q14.3 | |
Type of gene | protein-coding | |
Description | thrombospondin type-1 domain-containing protein 14833423O18Rikthrombospondin, type I, domain containing 1transmembrane molecule with thrombospondin module | |
Modification date | 20200313 | |
UniProtAcc | Q9NS62, | |
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 THSD1 |
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. |
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 |
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 THSD1 |
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_138672 | chr13 | 52397232:52398194:52402543:52402681:52406031:52406172 | 52402543:52402681 |
exon_skip_141484 | chr13 | 52378340:52378789:52386028:52386186:52397232:52398194 | 52386028:52386186 |
exon_skip_267269 | chr13 | 52377199:52378789:52386028:52386186:52397232:52398194 | 52386028:52386186 |
exon_skip_96202 | chr13 | 52386028:52386186:52397232:52398194:52402543:52402681 | 52397232:52398194 |
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 THSD1 |
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 |
ENST00000258613 | 52386028 | 52386186 | In-frame |
ENST00000258613 | 52397232 | 52398194 | 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 |
ENST00000258613 | 52386028 | 52386186 | 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 |
ENST00000258613 | 52386028 | 52386186 | In-frame |
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Infer the effects of exon skipping event on protein functional features for THSD1 |
p-ENSG00000136114_img4.png |
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 |
ENST00000258613 | 2979 | 852 | 52397232 | 52398194 | 238 | 1199 | 19 | 340 |
ENST00000258613 | 2979 | 852 | 52386028 | 52386186 | 1201 | 1358 | 340 | 393 |
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 |
ENST00000258613 | 2979 | 852 | 52386028 | 52386186 | 1201 | 1358 | 340 | 393 |
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 |
ENST00000258613 | 2979 | 852 | 52386028 | 52386186 | 1201 | 1358 | 340 | 393 |
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 |
Q9NS62 | 19 | 340 | 25 | 852 | Chain | ID=PRO_0000249584;Note=Thrombospondin type-1 domain-containing protein 1 |
Q9NS62 | 19 | 340 | 340 | 393 | Domain | Note=TSP type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 19 | 340 | 39 | 39 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NS62 | 19 | 340 | 53 | 53 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NS62 | 19 | 340 | 58 | 58 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NS62 | 19 | 340 | 69 | 69 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NS62 | 19 | 340 | 80 | 80 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NS62 | 19 | 340 | 135 | 135 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NS62 | 19 | 340 | 304 | 304 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NS62 | 19 | 340 | 125 | 125 | Natural variant | ID=VAR_027474;Note=V->G;Dbxref=dbSNP:rs13313279 |
Q9NS62 | 19 | 340 | 224 | 224 | Natural variant | ID=VAR_027475;Note=R->G;Dbxref=dbSNP:rs9536062 |
Q9NS62 | 19 | 340 | 1 | 24 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NS62 | 19 | 340 | 25 | 413 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NS62 | 340 | 393 | 341 | 393 | Alternative sequence | ID=VSP_020521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9NS62 | 340 | 393 | 25 | 852 | Chain | ID=PRO_0000249584;Note=Thrombospondin type-1 domain-containing protein 1 |
Q9NS62 | 340 | 393 | 352 | 387 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 356 | 392 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 367 | 377 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 340 | 393 | Domain | Note=TSP type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 25 | 413 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q9NS62 | 340 | 393 | 341 | 393 | Alternative sequence | ID=VSP_020521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9NS62 | 340 | 393 | 25 | 852 | Chain | ID=PRO_0000249584;Note=Thrombospondin type-1 domain-containing protein 1 |
Q9NS62 | 340 | 393 | 352 | 387 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 356 | 392 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 367 | 377 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 340 | 393 | Domain | Note=TSP type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 25 | 413 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q9NS62 | 340 | 393 | 341 | 393 | Alternative sequence | ID=VSP_020521;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q9NS62 | 340 | 393 | 25 | 852 | Chain | ID=PRO_0000249584;Note=Thrombospondin type-1 domain-containing protein 1 |
Q9NS62 | 340 | 393 | 352 | 387 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 356 | 392 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 367 | 377 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 340 | 393 | Domain | Note=TSP type-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
Q9NS62 | 340 | 393 | 25 | 413 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in THSD1 |
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 THSD1 |
- 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 THSD1 |
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 THSD1 |
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 THSD1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for THSD1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for THSD1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |