QRFPR
Basic information
Region (hg38): 4:121328642-121381059
Previous symbols: [ "GPR103" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the QRFPR 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 | 0 | |||||
| missense | 24 | 24 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 24 | 0 | 0 |
Variants in QRFPR
This is a list of pathogenic ClinVar variants found in the QRFPR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| QRFPR | protein_coding | protein_coding | ENST00000394427 | 6 | 51748 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 7.86e-11 | 0.0763 | 125433 | 2 | 313 | 125748 | 0.00125 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.157 | 226 | 233 | 0.971 | 0.0000106 | 2828 |
| Missense in Polyphen | 34 | 40.614 | 0.83715 | 531 | ||
| Synonymous | -0.588 | 93 | 86.1 | 1.08 | 0.00000391 | 834 |
| Loss of Function | 0.174 | 16 | 16.8 | 0.954 | 9.63e-7 | 177 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00920 | 0.00914 |
| Ashkenazi Jewish | 0.000596 | 0.000595 |
| East Asian | 0.000924 | 0.000925 |
| Finnish | 0.000140 | 0.000139 |
| European (Non-Finnish) | 0.000456 | 0.000440 |
| Middle Eastern | 0.000924 | 0.000925 |
| South Asian | 0.00251 | 0.00242 |
| Other | 0.000664 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for the orexigenic neuropeptide QRFP. The activity of this receptor is mediated by G proteins that modulate adenylate cyclase activity and intracellular calcium levels. {ECO:0000269|PubMed:12960173}.;
- Pathway
- Signaling by GPCR;Signal Transduction;Orexin and neuropeptides FF and QRFP bind to their respective receptors;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.0791
Intolerance Scores
- loftool
- 0.917
- rvis_EVS
- 1.62
- rvis_percentile_EVS
- 96
Haploinsufficiency Scores
- pHI
- 0.0457
- hipred
- N
- hipred_score
- 0.190
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.000827
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | High | Medium | High |
| Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Qrfpr
- Phenotype
- skeleton phenotype;
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;neuropeptide signaling pathway
- Cellular component
- plasma membrane;integral component of membrane
- Molecular function
- G protein-coupled receptor activity;neuropeptide Y receptor activity