FCER1G
Fc epsilon receptor Ig, the group of Fc receptors
Basic information
Region (hg38): 1:161215233-161220699
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCER1G 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 | 1 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 1 | 0 | 0 |
Variants in FCER1G
This is a list of pathogenic ClinVar variants found in the FCER1G region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-161215344-T-C | not specified | Uncertain significance (Oct 12, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FCER1G | protein_coding | protein_coding | ENST00000289902 | 5 | 5466 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.663 | 0.332 | 125739 | 0 | 7 | 125746 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.0192 | 45 | 44.6 | 1.01 | 0.00000226 | 532 |
| Missense in Polyphen | 16 | 14.08 | 1.1364 | 183 | ||
| Synonymous | 0.512 | 15 | 17.7 | 0.845 | 8.72e-7 | 175 |
| Loss of Function | 2.26 | 1 | 7.81 | 0.128 | 4.82e-7 | 79 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000578 | 0.0000578 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000352 | 0.0000352 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Adapter protein containing an immunoreceptor tyrosine- based activation motif (ITAM) that transduces activation signals from various immunoreceptors. As a component of the high-affinity immunoglobulin E (IgE) receptor, mediates allergic inflammatory signaling in mast cells. As a constitutive component of interleukin-3 receptor complex, selectively mediates interleukin 4/IL4 production by basophils, priming T-cells toward effector T- helper 2 subset. Associates with pattern recognition receptors CLEC4D and CLEC4E to form a functional signaling complex in myeloid cells. Binding of mycobacterial trehalose 6,6'-dimycolate (TDM) to this receptor complex leads to phosphorylation of ITAM, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. May function cooperatively with other activating receptors. Functionally linked to integrin beta- 2/ITGB2-mediated neutrophil activation. Also involved in integrin alpha-2/ITGA2-mediated platelet activation. {ECO:0000250|UniProtKB:P20491}.;
- Pathway
- Platelet activation - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Asthma - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Fc Epsilon Receptor I Signaling in Mast Cells;Microglia Pathogen Phagocytosis Pathway;Neutrophil degranulation;Dectin-2 family;C-type lectin receptors (CLRs);Innate Immune System;Immune System;Platelet Adhesion to exposed collagen;GPVI-mediated activation cascade;Platelet activation, signaling and aggregation;fc epsilon receptor i signaling in mast cells;Cell surface interactions at the vascular wall;Hemostasis;Fc-epsilon receptor I signaling in mast cells
(Consensus)
Recessive Scores
- pRec
- 0.144
Intolerance Scores
- loftool
- 0.286
- rvis_EVS
- 0.35
- rvis_percentile_EVS
- 73.79
Haploinsufficiency Scores
- pHI
- 0.114
- hipred
- Y
- hipred_score
- 0.559
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0140
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fcer1g
- Phenotype
- craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; limbs/digits/tail phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive 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); hematopoietic system phenotype; 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);
Gene ontology
- Biological process
- positive regulation of type IIa hypersensitivity;positive regulation of type III hypersensitivity;positive regulation of type I hypersensitivity;stimulatory C-type lectin receptor signaling pathway;neutrophil activation involved in immune response;T cell differentiation involved in immune response;Fc receptor mediated stimulatory signaling pathway;serotonin secretion by platelet;phagocytosis, engulfment;integrin-mediated signaling pathway;blood coagulation;regulation of platelet activation;immunoglobulin mediated immune response;antigen processing and presentation of exogenous peptide antigen via MHC class II;platelet activation;osteoclast differentiation;neutrophil chemotaxis;receptor internalization;interleukin-2 production;positive regulation of interleukin-10 production;positive regulation of interleukin-4 production;positive regulation of interleukin-6 production;positive regulation of tumor necrosis factor production;positive regulation of mast cell cytokine production;negative regulation of mast cell apoptotic process;Fc-gamma receptor signaling pathway;Fc-epsilon receptor signaling pathway;interleukin-3-mediated signaling pathway;antigen processing and presentation of exogenous peptide antigen via MHC class I;defense response to bacterium;positive regulation of mast cell degranulation;neutrophil degranulation;innate immune response;mast cell activation;positive regulation of phagocytosis;leukocyte migration;protein homooligomerization;cellular response to low-density lipoprotein particle stimulus;protein localization to plasma membrane;positive regulation of protein localization to cell surface
- Cellular component
- plasma membrane;integral component of plasma membrane;external side of plasma membrane;cell surface;Fc-epsilon receptor I complex;tertiary granule membrane;ficolin-1-rich granule membrane
- Molecular function
- protein binding;IgE receptor activity;IgE binding;IgG binding;protein homodimerization activity