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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for WAS |
 Gene summary |
| Gene information | Gene symbol | WAS | Gene ID | 7454 |
| Gene name | Wiskott-Aldrich syndrome | |
| 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 | 20180523 | |
| UniProtAcc | P42768 | |
| Context | PubMed: WAS [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 |
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Exon skipping events across known transcript of Ensembl for WAS 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 WAS |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for WAS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510389 | X | 48542671:48542812:48543935:48544022:48544122:48544225 | 48543935:48544022 | ENSG00000015285.6 | ENST00000483750.1,ENST00000465982.1,ENST00000450772.1,ENST00000376701.4 |
| exon_skip_510391 | X | 48544469:48544523:48545169:48545344:48546442:48546485 | 48545169:48545344 | ENSG00000015285.6 | ENST00000483750.1,ENST00000376701.4 |
| exon_skip_510393 | X | 48546688:48546842:48547048:48547455:48547708:48547823 | 48547048:48547455 | ENSG00000015285.6 | ENST00000376701.4 |
| exon_skip_510394 | X | 48547408:48547455:48547708:48547823:48549497:48549818 | 48547708:48547823 | ENSG00000015285.6 | ENST00000376701.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WAS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510389 | X | 48542671:48542812:48543935:48544022:48544122:48544225 | 48543935:48544022 | ENSG00000015285.6 | ENST00000450772.1,ENST00000376701.4,ENST00000465982.1,ENST00000483750.1 |
| exon_skip_510391 | X | 48544469:48544523:48545169:48545344:48546442:48546485 | 48545169:48545344 | ENSG00000015285.6 | ENST00000376701.4,ENST00000483750.1 |
| exon_skip_510393 | X | 48546688:48546842:48547048:48547455:48547708:48547823 | 48547048:48547455 | ENSG00000015285.6 | ENST00000376701.4 |
| exon_skip_510394 | X | 48547408:48547455:48547708:48547823:48549497:48549818 | 48547708:48547823 | ENSG00000015285.6 | ENST00000376701.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000376701 | 48545169 | 48545344 | Frame-shift |
| ENST00000376701 | 48547048 | 48547455 | Frame-shift |
| ENST00000376701 | 48547708 | 48547823 | Frame-shift |
| ENST00000376701 | 48543935 | 48544022 | 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 |
| ENST00000376701 | 48545169 | 48545344 | Frame-shift |
| ENST00000376701 | 48547048 | 48547455 | Frame-shift |
| ENST00000376701 | 48547708 | 48547823 | Frame-shift |
| ENST00000376701 | 48543935 | 48544022 | In-frame |
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Infer the effects of exon skipping event on protein functional features for WAS |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000376701 | 1866 | 502 | 48543935 | 48544022 | 349 | 435 | 91 | 120 |
| 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 |
| ENST00000376701 | 1866 | 502 | 48543935 | 48544022 | 349 | 435 | 91 | 120 |
| 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 |
| 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 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 |
| 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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SNVs in the skipped exons for WAS |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - 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 |
| PRAD | TCGA-XK-AAK1-01 | exon_skip_510389 | 48543936 | 48544022 | 48543988 | 48543988 | Frame_Shift_Del | C | - | p.T109fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_510391 | 48545170 | 48545344 | 48545191 | 48545191 | Frame_Shift_Del | C | - | p.S194fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_510393 | 48547049 | 48547455 | 48547102 | 48547102 | Frame_Shift_Del | C | - | p.P330fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_510393 | 48547049 | 48547455 | 48547113 | 48547113 | Frame_Shift_Del | G | - | p.V332fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_510393 | 48547049 | 48547455 | 48547144 | 48547144 | Frame_Shift_Del | C | - | p.P344fs |
| COAD | TCGA-AA-3663-01 | exon_skip_510393 | 48547049 | 48547455 | 48547171 | 48547171 | Frame_Shift_Del | C | - | p.P351fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_510393 | 48547049 | 48547455 | 48547192 | 48547192 | Frame_Shift_Del | C | - | p.P362fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_510394 | 48547709 | 48547823 | 48547771 | 48547771 | Frame_Shift_Del | G | - | p.V467fs |
| BRCA | TCGA-E9-A1NH-01 | exon_skip_510391 | 48545170 | 48545344 | 48545241 | 48545241 | Nonsense_Mutation | C | T | p.R211* |
| UCEC | TCGA-BK-A0CB-01 | exon_skip_510391 | 48545170 | 48545344 | 48545265 | 48545265 | Nonsense_Mutation | G | T | p.G219* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HEC108_ENDOMETRIUM | 48547049 | 48547455 | 48547095 | 48547095 | Frame_Shift_Del | C | - | p.L326fs |
| HCC1359_LUNG | 48543936 | 48544022 | 48543952 | 48543953 | Missense_Mutation | GG | AT | p.W97Y |
| NCIH2887_LUNG | 48543936 | 48544022 | 48543982 | 48543982 | Missense_Mutation | A | G | p.Y107C |
| KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48543936 | 48544022 | 48543997 | 48543997 | Missense_Mutation | C | G | p.P112R |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48545170 | 48545344 | 48545185 | 48545185 | Missense_Mutation | C | T | p.P192L |
| TT2609C02_THYROID | 48545170 | 48545344 | 48545231 | 48545231 | Missense_Mutation | C | G | p.I207M |
| HARA_LUNG | 48547049 | 48547455 | 48547064 | 48547064 | Missense_Mutation | C | T | p.P316L |
| SARC9371_BONE | 48547049 | 48547455 | 48547088 | 48547088 | Missense_Mutation | A | G | p.N324S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48547049 | 48547455 | 48547165 | 48547165 | Missense_Mutation | G | A | p.A350T |
| UW228_CENTRAL_NERVOUS_SYSTEM | 48547049 | 48547455 | 48547187 | 48547187 | Missense_Mutation | G | C | p.R357P |
| RKO_LARGE_INTESTINE | 48547049 | 48547455 | 48547273 | 48547273 | Missense_Mutation | C | T | p.P386S |
| KM12_LARGE_INTESTINE | 48547049 | 48547455 | 48547310 | 48547310 | Missense_Mutation | C | T | p.P398L |
| MDAMB231_BREAST | 48547049 | 48547455 | 48547426 | 48547426 | Missense_Mutation | C | A | p.Q437K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WAS |
| 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 WAS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WAS |
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RelatedDrugs for WAS |
| 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 |
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RelatedDiseases for WAS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| WAS | C0043194 | Wiskott-Aldrich Syndrome | 12 | CTD_human;ORPHANET;UNIPROT |
| WAS | C1839163 | THROMBOCYTOPENIA 1 (disorder) | 8 | CTD_human;ORPHANET;UNIPROT |
| WAS | C1845987 | Neutropenia, Severe Congenital, X-Linked | 2 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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