FCGR3B
Basic information
Region (hg38): 1:161623196-161631963
Previous symbols: [ "FCGR3", "FCG3" ]
Links
Phenotypes
GenCC
Source:
- systemic lupus erythematosus (Supportive), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (35 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCGR3B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001244753.2. 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 | 1 | |||||
missense | 32 | 36 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 32 | 4 | 1 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FCGR3B | protein_coding | protein_coding | ENST00000531221 | 5 | 8768 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.03e-7 | 0.184 | 125474 | 0 | 26 | 125500 | 0.000104 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -1.09 | 178 | 142 | 1.26 | 0.00000705 | 1712 |
Missense in Polyphen | 53 | 41.543 | 1.2758 | 555 | ||
Synonymous | -1.77 | 73 | 56.2 | 1.30 | 0.00000300 | 524 |
Loss of Function | 0.0101 | 10 | 10.0 | 0.997 | 4.25e-7 | 117 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000447 | 0.000445 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000547 | 0.0000545 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000798 | 0.0000792 |
Middle Eastern | 0.0000547 | 0.0000545 |
South Asian | 0.00 | 0.00 |
Other | 0.000332 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils.;
- Pathway
- Systemic lupus erythematosus - Homo sapiens (human);Phagosome - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Neutrophil degranulation;ras-independent pathway in nk cell-mediated cytotoxicity;Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System
(Consensus)
Recessive Scores
- pRec
- 0.0906
Intolerance Scores
- loftool
- 0.400
- rvis_EVS
- -0.12
- rvis_percentile_EVS
- 45.13
Haploinsufficiency Scores
- pHI
- 0.00848
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.530
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.00271
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fcgr4
- Phenotype
- homeostasis/metabolism phenotype; skeleton phenotype; hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- immune response;neutrophil degranulation
- Cellular component
- extracellular region;plasma membrane;secretory granule membrane;anchored component of membrane;extracellular exosome
- Molecular function
- IgG binding