WASL
WASP like actin nucleation promoting factor, the group of Wiskott-Aldrich Syndrome protein family
Basic information
Region (hg38): 7:123681943-123749003
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the WASL gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 15 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 15 | 1 | 0 |
Variants in WASL
This is a list of pathogenic ClinVar variants found in the WASL region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-123684540-A-C | not specified | Uncertain significance (Nov 12, 2021) | ||
| 7-123692409-C-T | not specified | Uncertain significance (May 06, 2022) | ||
| 7-123692534-G-A | not specified | Uncertain significance (May 04, 2022) | ||
| 7-123692537-G-C | not specified | Uncertain significance (Jan 29, 2024) | ||
| 7-123692570-G-T | not specified | Uncertain significance (Apr 23, 2024) | ||
| 7-123692630-G-A | not specified | Uncertain significance (Feb 16, 2023) | ||
| 7-123692720-G-A | not specified | Uncertain significance (May 11, 2022) | ||
| 7-123692783-G-C | not specified | Uncertain significance (Jan 17, 2023) | ||
| 7-123694745-C-T | not specified | Uncertain significance (Oct 02, 2023) | ||
| 7-123696678-G-A | not specified | Uncertain significance (Sep 30, 2021) | ||
| 7-123706372-G-T | not specified | Uncertain significance (Mar 07, 2023) | ||
| 7-123709177-C-T | not specified | Uncertain significance (Mar 23, 2023) | ||
| 7-123709193-C-T | not specified | Uncertain significance (Nov 03, 2023) | ||
| 7-123748662-G-C | not specified | Uncertain significance (Jun 05, 2023) | ||
| 7-123748721-T-G | not specified | Uncertain significance (Apr 07, 2023) | ||
| 7-123748724-A-C | not specified | Likely benign (Apr 07, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| WASL | protein_coding | protein_coding | ENST00000223023 | 11 | 67133 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.877 | 0.123 | 125740 | 0 | 7 | 125747 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.01 | 168 | 259 | 0.649 | 0.0000126 | 3243 |
| Missense in Polyphen | 24 | 33.51 | 0.7162 | 392 | ||
| Synonymous | -0.678 | 101 | 92.7 | 1.09 | 0.00000448 | 1032 |
| Loss of Function | 3.83 | 4 | 24.4 | 0.164 | 0.00000144 | 291 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000622 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000119 | 0.000109 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000264 | 0.0000264 |
| Middle Eastern | 0.000119 | 0.000109 |
| South Asian | 0.0000328 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates actin polymerization by stimulating the actin- nucleating activity of the Arp2/3 complex (PubMed:9422512, PubMed:16767080, PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828). Involved in various processes, such as mitosis and cytokinesis, via its role in the regulation of actin polymerization (PubMed:9422512, PubMed:19366662, PubMed:19487689, PubMed:22847007, PubMed:22921828). Together with CDC42, involved in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia (PubMed:9422512). In addition to its role in the cytoplasm, also plays a role in the nucleus by regulating gene transcription, probably by promoting nuclear actin polymerization (PubMed:16767080). Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression (By similarity). Plays a role in dendrite spine morphogenesis (By similarity). {ECO:0000250|UniProtKB:Q91YD9, ECO:0000269|PubMed:16767080, ECO:0000269|PubMed:19366662, ECO:0000269|PubMed:19487689, ECO:0000269|PubMed:22847007, ECO:0000269|PubMed:22921828, ECO:0000269|PubMed:9422512}.;
- Pathway
- Fc gamma R-mediated phagocytosis - Homo sapiens (human);Salmonella infection - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Adherens junction - Homo sapiens (human);Endocytosis - Homo sapiens (human);Tight junction - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Bacterial invasion of epithelial cells - Homo sapiens (human);Shigellosis - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Pathogenic Escherichia coli infection;Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling;Chemokine signaling pathway;G13 Signaling Pathway;Developmental Biology;Signal Transduction;Vesicle-mediated transport;role of pi3k subunit p85 in regulation of actin organization and cell migration;how does salmonella hijack a cell;Membrane Trafficking;y branching of actin filaments;Metabolism of nitric oxide;Fcgamma receptor (FCGR) dependent phagocytosis;EPH-Ephrin signaling;NOSTRIN mediated eNOS trafficking;eNOS activation and regulation;Innate Immune System;Immune System;Metabolism;EPHB-mediated forward signaling;RHO GTPases Activate WASPs and WAVEs;RHO GTPase Effectors;Signaling by Rho GTPases;Clathrin-mediated endocytosis;DCC mediated attractive signaling;EGFR1;ErbB1 downstream signaling;Regulation of actin dynamics for phagocytic cup formation;Netrin-1 signaling;Axon guidance;Nephrin family interactions;Cell-Cell communication;CDC42 signaling events;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Netrin-mediated signaling events;Signaling events mediated by focal adhesion kinase;EPHB forward signaling;PDGFR-beta signaling pathway;Nephrin/Neph1 signaling in the kidney podocyte
(Consensus)
Recessive Scores
- pRec
- 0.352
Intolerance Scores
- loftool
- 0.131
- rvis_EVS
- -0.69
- rvis_percentile_EVS
- 14.97
Haploinsufficiency Scores
- pHI
- 0.894
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.656
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.904
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Wasl
- Phenotype
- embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype; skeleton phenotype; renal/urinary system phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; craniofacial phenotype; cellular phenotype;
Zebrafish Information Network
- Gene name
- wasla
- Affected structure
- thrombocyte
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- actin cortical patch assembly;endocytosis;vesicle budding from membrane;actin polymerization or depolymerization;response to bacterium;vesicle organization;actin filament polymerization;actin filament-based movement;vesicle transport along actin filament;regulation of protein localization;cellular protein-containing complex localization;Fc-gamma receptor signaling pathway involved in phagocytosis;positive regulation of transcription by RNA polymerase II;ephrin receptor signaling pathway;regulation of nitric-oxide synthase activity;positive regulation of actin nucleation;cell division;positive regulation of filopodium assembly;spindle localization;actin cortical patch localization;dendritic spine morphogenesis;membrane organization;protein-containing complex assembly;negative regulation of membrane tubulation;positive regulation of clathrin-dependent endocytosis;negative regulation of lymphocyte migration;positive regulation of Arp2/3 complex-mediated actin nucleation
- Cellular component
- nucleus;cytosol;actin filament;plasma membrane;actin cytoskeleton;lamellipodium;actin cap;actin cortical patch;endocytic vesicle membrane;cytoplasmic vesicle;extracellular exosome
- Molecular function
- protein binding;GTPase regulator activity;actin filament binding