C5AR1
complement C5a receptor 1, the group of Complement component GPCRs|Complement system regulators and receptors|CD molecules
Basic information
Region (hg38): 19:47290023-47322066
Previous symbols: [ "C5R1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (46 variants)
- C5AR1-related_disorder (7 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the C5AR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001736.4. 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 | 4 | |||||
| missense | 45 | 48 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 46 | 6 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| C5AR1 | protein_coding | protein_coding | ENST00000355085 | 2 | 32044 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.402 | 0.480 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.158 | 211 | 218 | 0.970 | 0.0000150 | 2235 |
| Missense in Polyphen | 81 | 86.897 | 0.93213 | 921 | ||
| Synonymous | -0.670 | 109 | 100 | 1.08 | 0.00000693 | 792 |
| Loss of Function | 0.964 | 0 | 1.08 | 0.00 | 4.60e-8 | 12 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for the chemotactic and inflammatory peptide anaphylatoxin C5a (PubMed:1847994, PubMed:8182049, PubMed:7622471, PubMed:9553099, PubMed:10636859, PubMed:15153520, PubMed:29300009). The ligand interacts with at least two sites on the receptor: a high-affinity site on the extracellular N- terminus, and a second site in the transmembrane region which activates downstream signaling events (PubMed:8182049, PubMed:7622471, PubMed:9553099). Receptor activation stimulates chemotaxis, granule enzyme release, intracellular calcium release and superoxide anion production (PubMed:10636859, PubMed:15153520). {ECO:0000269|PubMed:10636859, ECO:0000269|PubMed:15153520, ECO:0000269|PubMed:1847994, ECO:0000269|PubMed:29300009, ECO:0000269|PubMed:7622471, ECO:0000269|PubMed:8182049, ECO:0000269|PubMed:9553099}.;
- Pathway
- Complement and coagulation cascades - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;Human Complement System;Dengue-2 Interactions with Complement and Coagulation Cascades;Oxidative Damage;Complement and Coagulation Cascades;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;Innate Immune System;Immune System;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Regulation of Complement cascade;G alpha (i) signalling events;Complement cascade;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.466
Intolerance Scores
- loftool
- 0.650
- rvis_EVS
- -0.6
- rvis_percentile_EVS
- 18.14
Haploinsufficiency Scores
- pHI
- 0.136
- hipred
- N
- hipred_score
- 0.213
- ghis
- 0.542
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.715
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- C5ar1
- Phenotype
- homeostasis/metabolism 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); hematopoietic system phenotype; skeleton phenotype; immune system phenotype;
Gene ontology
- Biological process
- activation of MAPK activity;complement receptor mediated signaling pathway;apoptotic process;chemotaxis;inflammatory response;immune response;cellular defense response;signal transduction;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;activation of phospholipase C activity;positive regulation of cytosolic calcium ion concentration;sensory perception of chemical stimulus;positive regulation of vascular endothelial growth factor production;positive regulation of macrophage chemotaxis;cell proliferation in hindbrain;regulation of complement activation;neutrophil chemotaxis;animal organ regeneration;response to peptidoglycan;response to lipopolysaccharide;complement component C5a signaling pathway;mRNA transcription by RNA polymerase II;neutrophil degranulation;negative regulation of neuron apoptotic process;positive regulation of angiogenesis;positive regulation of epithelial cell proliferation;defense response to Gram-positive bacterium;positive regulation of ERK1 and ERK2 cascade;positive regulation of neutrophil chemotaxis
- Cellular component
- plasma membrane;integral component of plasma membrane;cell surface;basolateral plasma membrane;secretory granule membrane;apical part of cell
- Molecular function
- complement component C5a binding;complement component C5a receptor activity;G protein-coupled receptor activity