mutLBSgeneDB |
Gene summary for WAS |
Gene summary |
Basic gene Info. | Gene symbol | WAS |
Gene name | Wiskott-Aldrich syndrome | |
Synonyms | IMD2|SCNX|THC|THC1|WASP | |
Cytomap | UCSC genome browser: Xp11.4-p11.21 | |
Type of gene | protein-coding | |
RefGenes | NM_000377.2, | |
Description | eczema-thrombocytopeniathrombocytopenia 1 (X-linked)wiskott-Aldrich syndrome protein | |
Modification date | 20141221 | |
dbXrefs | MIM : 300392 | |
HGNC : HGNC | ||
Ensembl : ENSG00000015285 | ||
HPRD : 02314 | ||
Vega : OTTHUMG00000034483 | ||
Protein | UniProt: P42768 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_WAS | |
BioGPS: 7454 | ||
Pathway | NCI Pathway Interaction Database: WAS | |
KEGG: WAS | ||
REACTOME: WAS | ||
Pathway Commons: WAS | ||
Context | iHOP: WAS | |
ligand binding site mutation search in PubMed: WAS | ||
UCL Cancer Institute: WAS | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for WAS |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | F258 | G257R | SKCM | 1 | I294 | F293L | UCEC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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Protein structure related information for WAS |
Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
: nsSNV at non-LBS: nsSNV at LBS |
nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | I294 | F293L | -0.68261773 | F258 | G257R | -0.28971191 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
Structure image for WAS from PDB |
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Differential gene expression and gene-gene network for WAS |
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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Phenotype information for WAS |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0043194 | Wiskott-Aldrich Syndrome | 139 | AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification |
umls:C1839163 | Thrombocytopenia 1 | 32 | Biomarker, GeneticVariation |
umls:C1845987 | Neutropenia, Severe Congenital, X-Linked | 1 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for WAS |
Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Experimental | DB01731 | (S)-Wiskostatin | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of WAS go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of WAS |
Multiple alignments for P42768 in multiple species |
LBS | AA sequence | # species | Species |
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