FCAR

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

Basic information

Region (hg38): 19:54874235-54891420

Links

ENSG00000186431 ∙ NCBI:2204 ∙ OMIM:147045 ∙ HGNC:3608 ∙ Uniprot:P24071 ∙ 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 FCAR gene.

• not_specified (56 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCAR gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002000.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			52	2		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	52	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCAR	protein_coding	protein_coding	ENST00000355524	5	16135

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.60e-8	0.147	125619	3	125	125747	0.000509

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.657	189	165	1.14	0.00000928	1870
Missense in Polyphen		46	47.39	0.97067		584
Synonymous	0.426	60	64.3	0.932	0.00000375	557
Loss of Function	-0.00896	11	11.0	1.00	5.51e-7	124

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000555	0.000555
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000218	0.000217
South Asian	0.00312	0.00301
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to the Fc region of immunoglobulins alpha. Mediates several functions including cytokine production. {ECO:0000269|PubMed:12768205}.
• Pathway: Phagosome - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.986
• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.31

Haploinsufficiency Scores

• pHI: 0.0514
• hipred: N
• hipred_score: 0.112
• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.392

Gene Damage Prediction

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

Gene ontology

• Biological process: immune response;neutrophil degranulation
• Cellular component: extracellular region;plasma membrane;integral component of plasma membrane;specific granule membrane;tertiary granule membrane;ficolin-1-rich granule membrane
• Molecular function: IgA binding