WIPF1
WAS/WASL interacting protein family member 1
Basic information
Region (hg38): 2:174559572-174682916
Previous symbols: [ "WASPIP" ]
Links
Phenotypes
GenCC
Source:
- Wiskott-Aldrich syndrome 2 (Moderate), mode of inheritance: AR
- Wiskott-Aldrich syndrome 2 (Strong), mode of inheritance: AR
- Wiskott-Aldrich syndrome (Supportive), mode of inheritance: AD
- Wiskott-Aldrich syndrome 2 (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Wiskott-Aldrich syndrome 2 | AR | Allergy/Immunology/Infectious; Hematologic | Individuals have been described with frequent and severe infections (including a lethal infectious course in one individual), and thus, antiinfectious prophylaxis and early and aggressive treatment of infections and bleeding issues may be beneficial; Unrelated CBT has been reported as effective | Allergy/Immunology/Infectious; Dermatologic; Hematologic | 22231303 |
ClinVar
This is a list of variants' phenotypes submitted to
- Wiskott-Aldrich_syndrome_2 (280 variants)
- Inborn_genetic_diseases (63 variants)
- not_provided (32 variants)
- WIPF1-related_disorder (11 variants)
- not_specified (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the WIPF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001375834.1. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 100 | 108 | ||||
| missense | 158 | 166 | ||||
| nonsense | 5 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 5 | 0 | 160 | 108 | 7 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| WIPF1 | protein_coding | protein_coding | ENST00000392547 | 7 | 123345 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.903 | 0.0970 | 125743 | 0 | 4 | 125747 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.15 | 259 | 317 | 0.818 | 0.0000189 | 3155 |
| Missense in Polyphen | 117 | 164.78 | 0.71002 | 1584 | ||
| Synonymous | 0.560 | 127 | 135 | 0.939 | 0.00000935 | 1185 |
| Loss of Function | 3.29 | 2 | 16.3 | 0.122 | 9.46e-7 | 189 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.0000993 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000265 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formation of cell ruffles (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning as an adapter for recruiting WASL to vaccinia virus. {ECO:0000250, ECO:0000269|PubMed:10878810, ECO:0000269|PubMed:19910490, ECO:0000269|PubMed:9405671}.;
- Disease
- DISEASE: Wiskott-Aldrich syndrome 2 (WAS2) [MIM:614493]: An immunodeficiency disorder characterized by eczema, thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell function. {ECO:0000269|PubMed:22231303}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Endocytosis - Homo sapiens (human);Signal Transduction;Fcgamma receptor (FCGR) dependent phagocytosis;TCR;Innate Immune System;Immune System;RHO GTPases Activate WASPs and WAVEs;KitReceptor;RHO GTPase Effectors;Signaling by Rho GTPases;Regulation of actin dynamics for phagocytic cup formation;Fc-epsilon receptor I signaling in mast cells
(Consensus)
Recessive Scores
- pRec
- 0.152
Intolerance Scores
- loftool
- 0.145
- rvis_EVS
- -0.6
- rvis_percentile_EVS
- 18.06
Haploinsufficiency Scores
- pHI
- 0.718
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.605
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.731
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Wipf1
- Phenotype
- hematopoietic system 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); respiratory system phenotype; immune system phenotype; skeleton phenotype; renal/urinary system phenotype; digestive/alimentary phenotype; endocrine/exocrine gland phenotype;
Gene ontology
- Biological process
- actin cortical patch assembly;endocytosis;actin polymerization or depolymerization;actin filament-based movement;Fc-gamma receptor signaling pathway involved in phagocytosis;positive regulation of actin nucleation;actin cortical patch localization;response to other organism;protein-containing complex assembly
- Cellular component
- ruffle;cytosol;actin filament;actin cytoskeleton;actin cortical patch;cytoplasmic vesicle
- Molecular function
- actin binding;protein binding;profilin binding;SH3 domain binding;actin filament binding