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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 WAS |
Gene summary |
Gene information | Gene symbol | WAS | Gene ID | 7454 |
Gene name | WASP actin nucleation promoting factor | |
Synonyms | IMD2|SCNX|THC|THC1|WASP|WASPA | |
Cytomap | Xp11.23 | |
Type of gene | protein-coding | |
Description | wiskott-Aldrich syndrome proteineczema-thrombocytopeniathrombocytopenia 1 (X-linked) | |
Modification date | 20200327 | |
UniProtAcc | ||
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
WAS | GO:0030041 | actin filament polymerization | 29925947 |
WAS | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20574068 |
WAS | GO:1905168 | positive regulation of double-strand break repair via homologous recombination | 29925947 |
WAS | GO:2001032 | regulation of double-strand break repair via nonhomologous end joining | 29925947 |
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Gene structures and expression levels for WAS |
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 |
PG | UP | ENST00000376701.4 | WAS-201:protein_coding:WAS | 1.692060e+01 | 9.284769e-01 | 1.419549e-05 | 6.520810e-04 |
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 WAS |
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_184583 | chrX | 48686081:48686134:48686781:48686955:48688054:48688146 | 48686781:48686955 |
exon_skip_267255 | chrX | 48684283:48684423:48685547:48685633:48685734:48685836 | 48685547:48685633 |
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 WAS |
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 |
ENST00000376701 | 48685547 | 48685633 | 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 |
ENST00000376701 | 48686781 | 48686955 | Frame-shift |
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 |
ENST00000376701 | 48685547 | 48685633 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WAS |
p-ENSG00000015285_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 |
ENST00000376701 | 1866 | 502 | 48685547 | 48685633 | 350 | 435 | 91 | 120 |
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 |
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 |
ENST00000376701 | 1866 | 502 | 48685547 | 48685633 | 350 | 435 | 91 | 120 |
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 |
P42768 | 91 | 120 | 2 | 502 | Chain | ID=PRO_0000188990;Note=Wiskott-Aldrich syndrome protein |
P42768 | 91 | 120 | 39 | 148 | Domain | Note=WH1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00410 |
P42768 | 91 | 120 | 97 | 97 | Natural variant | ID=VAR_005833;Note=In WAS%3B attenuated form. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8528198;Dbxref=PMID:8528198 |
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 |
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 |
P42768 | 91 | 120 | 2 | 502 | Chain | ID=PRO_0000188990;Note=Wiskott-Aldrich syndrome protein |
P42768 | 91 | 120 | 39 | 148 | Domain | Note=WH1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00410 |
P42768 | 91 | 120 | 97 | 97 | Natural variant | ID=VAR_005833;Note=In WAS%3B attenuated form. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8528198;Dbxref=PMID:8528198 |
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3'-UTR located exon skipping events that lost miRNA binding sites in WAS |
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 WAS |
- 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 WAS |
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 WAS |
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 WAS |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for WAS |
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 WAS |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |