FCGR1A

Fc gamma receptor Ia, the group of CD molecules|Immunoglobulin like domain containing|Fc receptors

Basic information

Region (hg38): 1:149782671-149791675

Links

ENSG00000150337

∙ NCBI:2209 ∙ OMIM:146760 ∙ HGNC:3613 ∙ Uniprot:P12314 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FCGR1A gene.

not_specified (33 variants)
not_provided (6 variants)
Peritoneal_Gliomatosis (1 variants)
IGG_receptor_I,_phagocytic,_familial_deficiency_of (1 variants)
FCGR1A-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCGR1A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000566.4. 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				2 clinvar		2
missense			30 clinvar	4 clinvar		34
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	6	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCGR1A	protein_coding	protein_coding	ENST00000369168	6	9848

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000131	0.860	123711	6	1042	124759	0.00421

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.579	150	171	0.875	0.00000860	2410
Missense in Polyphen		26	46.8	0.55555		721
Synonymous	0.372	63	66.9	0.942	0.00000327	739
Loss of Function	1.35	8	13.3	0.600	7.18e-7	160

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00448	0.00424
Ashkenazi Jewish	0.000303	0.000299
East Asian	0.000167	0.000163
Finnish	0.000515	0.000509
European (Non-Finnish)	0.00639	0.00628
Middle Eastern	0.000167	0.000163
South Asian	0.00589	0.00573
Other	0.00456	0.00444

dbNSFP

Source: dbNSFP

Function: FUNCTION: High affinity receptor for the Fc region of immunoglobulins gamma. Functions in both innate and adaptive immune responses. {ECO:0000269|PubMed:10397749, ECO:0000269|PubMed:10514529, ECO:0000269|PubMed:21965667, ECO:0000269|PubMed:8611682, ECO:0000269|PubMed:9881690}.;
Pathway: Fc gamma R-mediated phagocytosis - Homo sapiens (human);Systemic lupus erythematosus - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);Phagosome - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Microglia Pathogen Phagocytosis Pathway;Cytokine Signaling in Immune system;FCGR activation;Role of phospholipids in phagocytosis;Fcgamma receptor (FCGR) dependent phagocytosis;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;Regulation of actin dynamics for phagocytic cup formation;Interferon gamma signaling;Cross-presentation of soluble exogenous antigens (endosomes);Interferon Signaling (Consensus)

Recessive Scores

pRec: 0.265

Haploinsufficiency Scores

pHI: 0.101
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: 0.308

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Fcgr1
Phenotype: cellular phenotype; immune system phenotype; skeleton phenotype; normal phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;receptor-mediated endocytosis;phagocytosis, engulfment;immune response;signal transduction;Fc-gamma receptor signaling pathway involved in phagocytosis;regulation of immune response;interferon-gamma-mediated signaling pathway
Cellular component: plasma membrane;integral component of membrane;clathrin-coated endocytic vesicle membrane;early endosome membrane
Molecular function: protein binding;IgG binding