Gene table of WAS : Wiskott-Aldrich syndrome

Gene-disease associations table

Disease IDDisease nameSource of annotation with WASOMIM linkNumber of associated genesgenes
301000WISKOTT-ALDRICH SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1WAS
PS202700NEUTROPENIA, SEVERE CONGENITALClinVar, OMIM, HUMSAVAR link to OMIM 7ELANE, HAX1, WAS, GFI1, JAGN1, VPS45, G6PC3
313900THROMBOCYTOPENIA 1ClinVar, OMIM, HUMSAVAR link to OMIM 1WAS

Download the gene annotation in CSV format

Annotation of the gene WAS

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Salmonella infectionhsa051326.29
Shigellosishsa051316.74
Pathogenic Escherichia coli infectionhsa051306.99
Bacterial invasion of epithelial cellshsa051006.34
Adherens junctionhsa045206.26
Choline metabolism in cancerhsa052316.09
Fc gamma R-mediated phagocytosishsa046666.21
Chemokine signaling pathwayhsa040625.19
Regulation of actin cytoskeletonhsa048104.9
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Generation of second messenger moleculesR-HSA-2024337.34
RHO GTPase EffectorsR-HSA-1952584.94
Fcgamma receptor (FCGR) dependent phagocytosisR-HSA-20294805.07
RHO GTPases Activate WASPs and WAVEsR-HSA-56632137.85
Regulation of actin dynamics for phagocytic cup formationR-HSA-20294825.23
Innate Immune SystemR-HSA-1682493.17
Immune SystemR-HSA-1682562.37
Signaling by Rho GTPasesR-HSA-1943154.43
TCR signalingR-HSA-2024036.64
Adaptive Immune SystemR-HSA-12802183.19
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
protein kinase bindingGO:00199013.44
kinase bindingGO:00199003.32
cytoskeletal protein bindingGO:00080923.02
enzyme regulator activityGO:00302342.85
SH3 domain bindingGO:00171244.98
enzyme bindingGO:00198992.27
actin bindingGO:00037793.74
GTPase regulator activityGO:00306954.01
phospholipase bindingGO:00432746.91
bindingGO:00054880.18
protein bindingGO:00055150.46
molecular function regulatorGO:00987722.51
nucleoside-triphosphatase regulator activityGO:00605893.92
identical protein bindingGO:00428022.63
protein domain specific bindingGO:00199043.32