QRFPR

pyroglutamylated RFamide peptide receptor, the group of Peptide receptors

Basic information

Region (hg38): 4:121328642-121381059

Previous symbols: [ "GPR103" ]

Links

ENSG00000186867 ∙ NCBI:84109 ∙ OMIM:606925 ∙ HGNC:15565 ∙ Uniprot:Q96P65 ∙ 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 QRFPR gene.

• not_specified (51 variants)
• not_provided (3 variants)
• Gestational_diabetes_mellitus_uncontrolled (1 variants)

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. These statistics are base on transcript: NM_000198179.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			52			52
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	0	0

GnomAD

Source: gnomAD

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: dbNSFP

• 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

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