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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for WASF1 |
 Gene summary |
| Gene information | Gene symbol | WASF1 | Gene ID | 8936 |
| Gene name | WASP family member 1 | |
| Synonyms | NEDALVS|SCAR1|WAVE|WAVE1 | |
| Cytomap | 6q21 | |
| Type of gene | protein-coding | |
| Description | wiskott-Aldrich syndrome protein family member 1WAS protein family member 1WASP family protein member 1homology of dictyostelium scar 1protein WAVE-1verprolin homology domain-containing protein 1 | |
| Modification date | 20200313 | |
| 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 |
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Gene structures and expression levels for WASF1 |
| 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. |
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ENSG00000112290
| 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 WASF1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_121382 | chr6 | 110160635:110160732:110178598:110178742:110179439:110179649 | 110178598:110178742 |
| exon_skip_134383 | chr6 | 110113326:110113460:110127469:110127629:110179439:110179649 | 110127469:110127629 |
| exon_skip_138742 | chr6 | 110127469:110127629:110160635:110160732:110178598:110178742 | 110160635:110160732 |
| exon_skip_163994 | chr6 | 110127469:110127629:110160635:110160732:110179439:110179522 | 110160635:110160732 |
| exon_skip_178382 | chr6 | 110108528:110108681:110113326:110113460:110127469:110127629 | 110113326:110113460 |
| exon_skip_208346 | chr6 | 110103378:110103557:110105407:110105579:110107077:110107194 | 110105407:110105579 |
| exon_skip_235210 | chr6 | 110127469:110127629:110178598:110178742:110179439:110179522 | 110178598:110178742 |
| exon_skip_256395 | chr6 | 110113326:110113460:110127469:110127629:110178598:110178742 | 110127469:110127629 |
| exon_skip_270160 | chr6 | 110160635:110160732:110178598:110178742:110179841:110179923 | 110178598:110178742 |
| exon_skip_276921 | chr6 | 110160635:110160732:110178598:110178742:110179439:110179522 | 110178598:110178742 |
| exon_skip_281627 | chr6 | 110099819:110100679:110101588:110102216:110103378:110103557 | 110101588:110102216 |
| exon_skip_39789 | chr6 | 110160635:110160732:110177147:110177186:110178598:110178742 | 110177147:110177186 |
| exon_skip_48730 | chr6 | 110127469:110127629:110178598:110178742:110179841:110179923 | 110178598:110178742 |
| exon_skip_52604 | chr6 | 110127469:110127629:110160635:110160732:110179439:110179649 | 110160635:110160732 |
| exon_skip_70504 | chr6 | 110127469:110127629:110178598:110178742:110179439:110179649 | 110178598:110178742 |
| exon_skip_97631 | chr6 | 110127469:110127629:110160635:110160732:110177147:110177186 | 110160635:110160732 |
| 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 WASF1 |
| 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 |
| ENST00000392587 | 110127469 | 110127629 | 3UTR-3CDS |
| ENST00000392588 | 110127469 | 110127629 | 3UTR-3CDS |
| ENST00000359451 | 110160635 | 110160732 | 3UTR-3UTR |
| ENST00000392586 | 110160635 | 110160732 | 3UTR-3UTR |
| ENST00000392589 | 110160635 | 110160732 | 3UTR-3UTR |
| ENST00000392586 | 110178598 | 110178742 | 3UTR-3UTR |
| ENST00000392588 | 110178598 | 110178742 | 3UTR-3UTR |
| ENST00000359451 | 110101588 | 110102216 | Frame-shift |
| ENST00000392586 | 110101588 | 110102216 | Frame-shift |
| ENST00000392587 | 110101588 | 110102216 | Frame-shift |
| ENST00000392588 | 110101588 | 110102216 | Frame-shift |
| ENST00000392589 | 110101588 | 110102216 | Frame-shift |
| ENST00000359451 | 110105407 | 110105579 | Frame-shift |
| ENST00000392586 | 110105407 | 110105579 | Frame-shift |
| ENST00000392587 | 110105407 | 110105579 | Frame-shift |
| ENST00000392588 | 110105407 | 110105579 | Frame-shift |
| ENST00000392589 | 110105407 | 110105579 | Frame-shift |
| 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 |
| ENST00000392587 | 110127469 | 110127629 | 3UTR-3CDS |
| ENST00000359451 | 110160635 | 110160732 | 3UTR-3UTR |
| ENST00000392586 | 110160635 | 110160732 | 3UTR-3UTR |
| ENST00000392589 | 110160635 | 110160732 | 3UTR-3UTR |
| ENST00000392586 | 110178598 | 110178742 | 3UTR-3UTR |
| ENST00000392588 | 110178598 | 110178742 | 3UTR-3UTR |
| ENST00000359451 | 110113326 | 110113460 | In-frame |
| ENST00000392586 | 110113326 | 110113460 | In-frame |
| ENST00000392587 | 110113326 | 110113460 | In-frame |
| ENST00000392588 | 110113326 | 110113460 | In-frame |
| ENST00000392589 | 110113326 | 110113460 | 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 |
| ENST00000392587 | 110127469 | 110127629 | 3UTR-3CDS |
| ENST00000359451 | 110160635 | 110160732 | 3UTR-3UTR |
| ENST00000392586 | 110160635 | 110160732 | 3UTR-3UTR |
| ENST00000392589 | 110160635 | 110160732 | 3UTR-3UTR |
| ENST00000392586 | 110178598 | 110178742 | 3UTR-3UTR |
| ENST00000392588 | 110178598 | 110178742 | 3UTR-3UTR |
| ENST00000359451 | 110101588 | 110102216 | Frame-shift |
| ENST00000392586 | 110101588 | 110102216 | Frame-shift |
| ENST00000392587 | 110101588 | 110102216 | Frame-shift |
| ENST00000392588 | 110101588 | 110102216 | Frame-shift |
| ENST00000392589 | 110101588 | 110102216 | Frame-shift |
| ENST00000359451 | 110105407 | 110105579 | Frame-shift |
| ENST00000392586 | 110105407 | 110105579 | Frame-shift |
| ENST00000392587 | 110105407 | 110105579 | Frame-shift |
| ENST00000392588 | 110105407 | 110105579 | Frame-shift |
| ENST00000392589 | 110105407 | 110105579 | Frame-shift |
| ENST00000359451 | 110113326 | 110113460 | In-frame |
| ENST00000392586 | 110113326 | 110113460 | In-frame |
| ENST00000392587 | 110113326 | 110113460 | In-frame |
| ENST00000392588 | 110113326 | 110113460 | In-frame |
| ENST00000392589 | 110113326 | 110113460 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WASF1 |
p-ENSG00000112290_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 |
| 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 |
| ENST00000359451 | 3092 | 559 | 110113326 | 110113460 | 826 | 959 | 44 | 89 |
| ENST00000392586 | 2832 | 559 | 110113326 | 110113460 | 566 | 699 | 44 | 89 |
| ENST00000392587 | 2692 | 559 | 110113326 | 110113460 | 426 | 559 | 44 | 89 |
| ENST00000392588 | 3139 | 559 | 110113326 | 110113460 | 873 | 1006 | 44 | 89 |
| ENST00000392589 | 3237 | 559 | 110113326 | 110113460 | 971 | 1104 | 44 | 89 |
| 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 |
| ENST00000359451 | 3092 | 559 | 110113326 | 110113460 | 826 | 959 | 44 | 89 |
| ENST00000392586 | 2832 | 559 | 110113326 | 110113460 | 566 | 699 | 44 | 89 |
| ENST00000392587 | 2692 | 559 | 110113326 | 110113460 | 426 | 559 | 44 | 89 |
| ENST00000392588 | 3139 | 559 | 110113326 | 110113460 | 873 | 1006 | 44 | 89 |
| ENST00000392589 | 3237 | 559 | 110113326 | 110113460 | 971 | 1104 | 44 | 89 |
| 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 |
| 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 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| 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 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 1 | 559 | Chain | ID=PRO_0000188992;Note=Wiskott-Aldrich syndrome protein family member 1 |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 26 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
| Q92558 | 44 | 89 | 85 | 87 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3P8C |
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3'-UTR located exon skipping events that lost miRNA binding sites in WASF1 |
| 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 |
| Mayo | ENST00000392588 | 110178598 | 110178742 | hsa-miR-6730-3p | chr6:110178714-110178721 | 8mer-1a | chr6:110178703-110178724 | 168.00 | -21.13 |
| Mayo | ENST00000392589 | 110160635 | 110160732 | hsa-miR-889-5p | chr6:110160657-110160664 | 8mer-1a | chr6:110160650-110160673 | 160.00 | -19.97 |
| Mayo | ENST00000392588 | 110178598 | 110178742 | hsa-miR-4313 | chr6:110178733-110178740 | 8mer-1a | chr6:110178721-110178740 | 151.00 | -21.46 |
| Mayo | ENST00000392588 | 110178598 | 110178742 | hsa-miR-4714-5p | chr6:110178717-110178724 | 8mer-1a | chr6:110178703-110178724 | 168.00 | -21.13 |
| Mayo | ENST00000392589 | 110160635 | 110160732 | hsa-miR-4531 | chr6:110160723-110160730 | 8mer-1a | chr6:110160712-110160731 | 147.00 | -12.07 |
| Mayo | ENST00000392589 | 110160635 | 110160732 | hsa-miR-3682-3p | chr6:110160693-110160700 | 8mer-1a | chr6:110160679-110160700 | 160.00 | -18.71 |
| Mayo | ENST00000392588 | 110178598 | 110178742 | hsa-miR-4325 | chr6:110178700-110178707 | 8mer-1a | chr6:110178698-110178723 | 162.00 | -22.43 |
| Mayo | ENST00000392589 | 110160635 | 110160732 | hsa-miR-1468-3p | chr6:110160651-110160658 | 8mer-1a | chr6:110160650-110160673 | 160.00 | -19.97 |
| MSBB | ENST00000392588 | 110178598 | 110178742 | hsa-miR-6730-3p | chr6:110178714-110178721 | 8mer-1a | chr6:110178703-110178724 | 168.00 | -21.13 |
| MSBB | ENST00000392589 | 110160635 | 110160732 | hsa-miR-889-5p | chr6:110160657-110160664 | 8mer-1a | chr6:110160650-110160673 | 160.00 | -19.97 |
| MSBB | ENST00000392588 | 110178598 | 110178742 | hsa-miR-4313 | chr6:110178733-110178740 | 8mer-1a | chr6:110178721-110178740 | 151.00 | -21.46 |
| MSBB | ENST00000392588 | 110178598 | 110178742 | hsa-miR-4714-5p | chr6:110178717-110178724 | 8mer-1a | chr6:110178703-110178724 | 168.00 | -21.13 |
| MSBB | ENST00000392589 | 110160635 | 110160732 | hsa-miR-4531 | chr6:110160723-110160730 | 8mer-1a | chr6:110160712-110160731 | 147.00 | -12.07 |
| MSBB | ENST00000392589 | 110160635 | 110160732 | hsa-miR-3682-3p | chr6:110160693-110160700 | 8mer-1a | chr6:110160679-110160700 | 160.00 | -18.71 |
| MSBB | ENST00000392588 | 110178598 | 110178742 | hsa-miR-4325 | chr6:110178700-110178707 | 8mer-1a | chr6:110178698-110178723 | 162.00 | -22.43 |
| MSBB | ENST00000392589 | 110160635 | 110160732 | hsa-miR-1468-3p | chr6:110160651-110160658 | 8mer-1a | chr6:110160650-110160673 | 160.00 | -19.97 |
| ROSMAP | ENST00000392588 | 110178598 | 110178742 | hsa-miR-6730-3p | chr6:110178714-110178721 | 8mer-1a | chr6:110178703-110178724 | 168.00 | -21.13 |
| ROSMAP | ENST00000392589 | 110160635 | 110160732 | hsa-miR-889-5p | chr6:110160657-110160664 | 8mer-1a | chr6:110160650-110160673 | 160.00 | -19.97 |
| ROSMAP | ENST00000392588 | 110178598 | 110178742 | hsa-miR-4313 | chr6:110178733-110178740 | 8mer-1a | chr6:110178721-110178740 | 151.00 | -21.46 |
| ROSMAP | ENST00000392588 | 110178598 | 110178742 | hsa-miR-4714-5p | chr6:110178717-110178724 | 8mer-1a | chr6:110178703-110178724 | 168.00 | -21.13 |
| ROSMAP | ENST00000392589 | 110160635 | 110160732 | hsa-miR-4531 | chr6:110160723-110160730 | 8mer-1a | chr6:110160712-110160731 | 147.00 | -12.07 |
| ROSMAP | ENST00000392589 | 110160635 | 110160732 | hsa-miR-3682-3p | chr6:110160693-110160700 | 8mer-1a | chr6:110160679-110160700 | 160.00 | -18.71 |
| ROSMAP | ENST00000392588 | 110178598 | 110178742 | hsa-miR-4325 | chr6:110178700-110178707 | 8mer-1a | chr6:110178698-110178723 | 162.00 | -22.43 |
| ROSMAP | ENST00000392589 | 110160635 | 110160732 | hsa-miR-1468-3p | chr6:110160651-110160658 | 8mer-1a | chr6:110160650-110160673 | 160.00 | -19.97 |
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SNVs in the skipped exons for WASF1 |
| - 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 WASF1 |
| 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 WASF1 |
| 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 WASF1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | HNRNPK | exon_skip_70504 | 4.225122e-01 | 2.509991e-02 |
| IFG | NUP42 | exon_skip_70504 | 6.129051e-01 | 5.254081e-04 |
| IFG | ZCRB1 | exon_skip_70504 | 4.012346e-01 | 3.432987e-02 |
| TC | RBFOX2 | exon_skip_52604 | -4.249047e-01 | 3.962611e-08 |
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RelatedDrugs for WASF1 |
| 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 WASF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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