FCGR1BP
Basic information
Region (hg38): 1:121087395-121096152
Previous symbols: [ "FCGR1B" ]
Links
Phenotypes
GenCC
Source:
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 FCGR1BP 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 | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FCGR1BP | protein_coding | protein_coding | ENST00000369384 | 5 | 8959 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.34e-10 | 0.0150 | 125566 | 0 | 24 | 125590 | 0.0000956 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -1.72 | 169 | 117 | 1.45 | 0.00000574 | 1807 |
| Missense in 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 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000118 | 0.000118 |
| Ashkenazi Jewish | 0.000317 | 0.000298 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000142 | 0.000132 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000663 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
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}.;
- Pathway
- Cytokine Signaling in Immune system;Immune System;Adaptive Immune System;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;Interferon gamma signaling;Cross-presentation of soluble exogenous antigens (endosomes);Interferon Signaling
(Consensus)
Recessive Scores
- pRec
- 0.0722
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.380
- ghis
- 0.500
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0408
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Gene ontology
- 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;interferon-gamma-mediated signaling pathway
- Cellular component
- plasma membrane;integral component of membrane;clathrin-coated endocytic vesicle membrane;early endosome membrane
- Molecular function
- immunoglobulin receptor activity;IgG binding