FCGR1BP
pseudoFc gamma receptor Ib, pseudogene, the group of Fc receptors|Immunoglobulin like domain containing
Gene summary
Three distinct, but closely related classes of receptors that bind the Fc portion of IgG have been identified (Fcgamma RI, II and III). The FcgammaRI family consists of three closely related genes termed A, B, and C. This gene likely encodes a non-functional protein that is not detectable at the cell surface and binds ligand with low affinity. [provided by RefSeq, Nov 2019]
- FCGR1B
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FCGR1BP variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Cytokine Signaling in Immune system
- Immune System
- Adaptive Immune System
- Antigen processing-Cross presentation
- Class I MHC mediated antigen processing & presentation
Biological Process
- adaptive immune response
- antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
- receptor-mediated endocytosis
- immune response
- Fc receptor signaling pathway
Molecular Function
- immunoglobulin receptor activity
- IgG binding
Cellular Component
- plasma membrane
- integral component of membrane
- clathrin-coated endocytic vesicle membrane
- early endosome membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000369384
- Coding exons
- 5
- Length
- 8959
- Individuals with no LoFs
- 125566
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 24
- Defined
- 125590
- p
- 0.0000956
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -1.72 | 169 | 117 | 1.45 | 0.00000574 | 1807 |
| Missense (PolyPhen) | 49 | 34.103 | 1.4368 | 552 | ||
| Synonymous | -1.85 | 60 | 44.3 | 1.35 | 0.00000212 | 534 |
| Loss of Function | -1.12 | 13 | 9.31 | 1.40 | 5.40e-7 | 109 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0.00032 | 0.00030 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00014 | 0.00013 | rare |
| South Asian | 0.000066 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May bind to the Fc region of immunoglobulins gamma with a low affinity compared to FCGR1A. May function in the humoral immune response. {ECO:0000269|PubMed:1430234, ECO:0000269|PubMed:9881690}.;
Recessive Scores
- pRec
- 0.0722
Essentials
- Essential (CRISPR)
- E
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0408
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |