FPR1

formyl peptide receptor 1, the group of Formyl peptide receptors

Basic information

Region (hg38): 19:51745172-51804115

Links

ENSG00000171051 ∙ NCBI:2357 ∙ OMIM:136537 ∙ HGNC:3826 ∙ Uniprot:P21462 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown
• susceptibility to localized juvenile periodontitis (Supportive), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FPR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FPR1 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			1	66	8	75
missense			114	7	8	129
nonsense			2			2
start loss						0
frameshift			2			2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	119	73	16

Variants in FPR1

This is a list of pathogenic ClinVar variants found in the FPR1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-51745951-C-T		Gingival disorder	Likely benign (Aug 11, 2023)
19-51745957-C-T		FPR1-related disorder	Likely benign (Oct 28, 2019)
19-51745957-CT-TG		Gingival disorder	Benign (Jan 19, 2024)
19-51745958-T-G		not specified • Gingival disorder	Benign (Feb 01, 2024)
19-51745979-G-A		Gingival disorder	Uncertain significance (Oct 22, 2023)
19-51745980-T-C		Gingival disorder	Uncertain significance (Mar 02, 2023)
19-51745985-T-C		Gingival disorder	Uncertain significance (Feb 24, 2023)
19-51745987-G-A		Gingival disorder	Likely benign (Feb 22, 2022)
19-51745987-G-T		Gingival disorder	Likely benign (Jan 21, 2024)
19-51746002-G-A		not specified • Gingival disorder	Benign (Jan 31, 2024)
19-51746013-A-G		Gingival disorder • not specified	Uncertain significance (Dec 06, 2022)
19-51746019-C-T		Gingival disorder	Uncertain significance (Aug 04, 2023)
19-51746020-G-C		Gingival disorder	Likely benign (Jul 05, 2022)
19-51746026-G-A		Gingival disorder	Likely benign (Feb 06, 2020)
19-51746035-C-T		Gingival disorder	Likely benign (Aug 23, 2022)
19-51746038-A-G		Gingival disorder	Likely benign (Jan 21, 2024)
19-51746040-T-G		Gingival disorder	Uncertain significance (Sep 02, 2021)
19-51746041-G-C		Gingival disorder	Likely benign (Aug 06, 2020)
19-51746043-C-T		Gingival disorder	Uncertain significance (Jan 29, 2024)
19-51746052-C-T		Gingival disorder	Uncertain significance (Jul 22, 2021)
19-51746053-G-A		Gingival disorder	Likely benign (May 29, 2023)
19-51746061-G-A		Gingival disorder	Likely benign (Nov 28, 2023)
19-51746069-C-T		Gingival disorder	Uncertain significance (Sep 27, 2023)
19-51746076-C-T		Gingival disorder	Uncertain significance (Aug 14, 2019)
19-51746077-C-T		Gingival disorder	Likely benign (Aug 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FPR1	protein_coding	protein_coding	ENST00000595042	1	58939

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.552	181	203	0.891	0.0000124	2274
Missense in Polyphen		43	51.574	0.83375		677
Synonymous	-1.79	102	81.5	1.25	0.00000530	760
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Function: FUNCTION: High affinity receptor for N-formyl-methionyl peptides (fMLP), which are powerful neutrophil chemotactic factors (PubMed:2161213, PubMed:2176894, PubMed:10514456, PubMed:15153520). Binding of fMLP to the receptor stimulates intracellular calcium mobilization and superoxide anion release (PubMed:2161213, PubMed:1712023, PubMed:15153520). This response is mediated via a G-protein that activates a phosphatidylinositol- calcium second messenger system (PubMed:1712023, PubMed:10514456). {ECO:0000269|PubMed:10514456, ECO:0000269|PubMed:15153520, ECO:0000269|PubMed:2161213, ECO:0000269|PubMed:2176894, ECO:0000303|PubMed:10514456, ECO:0000303|PubMed:1712023, ECO:0000303|PubMed:2161213, ECO:0000303|PubMed:2176894}.
• Pathway: Staphylococcus aureus infection - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;Human Complement System;Interleukin-10 signaling;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;ion channels and their functional role in vascular endothelium;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;Innate Immune System;Immune System;Formyl peptide receptors bind formyl peptides and many other ligands;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);roles of arrestin dependent recruitment of src kinases in gpcr signaling;GPCR ligand binding;fmlp induced chemokine gene expression in hmc-1 cells;-arrestins in gpcr desensitization;G alpha (i) signalling events;GPCR downstream signalling;Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling (Consensus)

Recessive Scores

• pRec: 0.194

Intolerance Scores

• loftool: 0.570
• rvis_EVS: 1.13
• rvis_percentile_EVS: 92.26

Haploinsufficiency Scores

• pHI: 0.0532
• hipred: N
• hipred_score: 0.430
• ghis: 0.403

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.165

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fpr1
• Phenotype: hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: fpr1
• Affected structure: neutrophil activation involved in immune response
• Phenotype tag: abnormal
• Phenotype quality: disrupted

Gene ontology

• Biological process: activation of MAPK activity;complement receptor mediated signaling pathway;chemotaxis;inflammatory response;signal transduction;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;nitric oxide mediated signal transduction;cytokine-mediated signaling pathway;neutrophil degranulation
• Cellular component: plasma membrane;integral component of membrane;secretory granule membrane;azurophil granule membrane;ficolin-1-rich granule membrane
• Molecular function: G protein-coupled receptor binding;G protein-coupled receptor activity;N-formyl peptide receptor activity;scavenger receptor binding;protein binding;RAGE receptor binding