NPFFR1

neuropeptide FF receptor 1, the group of Neuropeptide FF receptors

Basic information

Region (hg38): 10:70247329-70284004

Previous symbols: [ "GPR147" ]

Links

ENSG00000148734

∙ NCBI:64106 ∙ OMIM:607448 ∙ HGNC:17425 ∙ Uniprot:Q9GZQ6 ∙ 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 NPFFR1 gene.

not_specified (64 variants)
not_provided (5 variants)
EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NPFFR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022146.5. 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				1 clinvar	2 clinvar	3
missense			60 clinvar	5 clinvar	1 clinvar	66
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	6	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NPFFR1	protein_coding	protein_coding	ENST00000277942	4	36348

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.55e-15	0.00144	124227	0	586	124813	0.00235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.48	202	270	0.747	0.0000176	2717
Missense in Polyphen		67	99.789	0.67141		1085
Synonymous	1.62	100	123	0.814	0.00000854	917
Loss of Function	-1.57	18	12.1	1.49	5.61e-7	122

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00283	0.00280
Ashkenazi Jewish	0.00126	0.00119
East Asian	0.000526	0.000501
Finnish	0.000523	0.000511
European (Non-Finnish)	0.00415	0.00401
Middle Eastern	0.000526	0.000501
South Asian	0.000135	0.000131
Other	0.00288	0.00280

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system.;
Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;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: 0.105

Haploinsufficiency Scores

pHI: 0.119
hipred: N
hipred_score: 0.486
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.196

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Npffr1
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); reproductive system phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype;

Gene ontology

Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;biological_process;cellular response to hormone stimulus
Cellular component: plasma membrane;integral component of plasma membrane
Molecular function: G protein-coupled receptor activity;neuropeptide receptor activity