GPR84
Basic information
Region (hg38): 12:54362445-54364487
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (37 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR84 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020370.3. 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 | 0 | |||||
| missense | 35 | 37 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 35 | 2 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GPR84 | protein_coding | protein_coding | ENST00000551809 | 1 | 2043 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 3.30e-9 | 0.0958 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.404 | 211 | 228 | 0.925 | 0.0000130 | 2546 |
| Missense in Polyphen | 61 | 72.641 | 0.83974 | 811 | ||
| Synonymous | 0.933 | 79 | 90.3 | 0.875 | 0.00000466 | 875 |
| Loss of Function | -0.0188 | 13 | 12.9 | 1.01 | 9.81e-7 | 112 |
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 medium-chain free fatty acid (FFA) with carbon chain lengths of C9 to C14. Capric acid (C10:0), undecanoic acid (C11:0) and lauric acid (C12:0) are the most potent agonists. Not activated by short-chain and long-chain saturated and unsaturated FFAs. Activation by medium-chain free fatty acid is coupled to a pertussis toxin sensitive G(i/o) protein pathway. May have important roles in processes from fatty acid metabolism to regulation of the immune system. {ECO:0000269|PubMed:16966319}.;
- Pathway
- GPCRs, Other;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;Innate Immune System;Immune System;G alpha (s) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.0863
Intolerance Scores
- loftool
- 0.765
- rvis_EVS
- 0.09
- rvis_percentile_EVS
- 60.47
Haploinsufficiency Scores
- pHI
- 0.0944
- hipred
- N
- hipred_score
- 0.197
- ghis
- 0.456
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0759
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gpr84
- Phenotype
- hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;biological_process;neutrophil degranulation
- Cellular component
- plasma membrane;integral component of plasma membrane;specific granule membrane;receptor complex;tertiary granule membrane
- Molecular function
- urotensin II receptor activity;G protein-coupled peptide receptor activity