NPFFR1

neuropeptide FF receptor 1, the group of Neuropeptide FF receptors

Basic information

Region (hg38): 10:70247328-70284004

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.

• Inborn genetic diseases (21 variants)
• not provided (5 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.

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				1	2	3
missense			20	1	2	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	2	4

Variants in NPFFR1

This is a list of pathogenic ClinVar variants found in the NPFFR1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-70255022-C-A		not specified	Uncertain significance (Nov 21, 2022)
10-70255034-C-T		not specified	Uncertain significance (Aug 30, 2022)
10-70255111-T-G		not specified	Uncertain significance (Dec 15, 2022)
10-70255138-C-A		not specified	Uncertain significance (Jan 22, 2024)
10-70255180-T-A		not specified	Uncertain significance (Mar 02, 2023)
10-70255279-G-A		not specified	Uncertain significance (Dec 07, 2021)
10-70255348-G-A		not specified	Uncertain significance (Dec 15, 2023)
10-70255434-C-T			Benign (Jan 17, 2018)
10-70255448-C-A		not specified	Uncertain significance (Apr 25, 2022)
10-70255471-C-G		not specified	Uncertain significance (Aug 12, 2021)
10-70255495-C-A		not specified	Uncertain significance (Nov 01, 2022)
10-70255521-G-C			Likely benign (Mar 30, 2018)
10-70255568-G-A		not specified	Uncertain significance (Jun 09, 2022)
10-70255597-G-A		not specified	Uncertain significance (Aug 17, 2022)
10-70255598-T-C		not specified	Likely benign (Jan 23, 2023)
10-70255598-T-G		not specified	Uncertain significance (Mar 29, 2022)
10-70255663-C-A			Benign (Mar 07, 2018)
10-70255673-C-A			Benign (Jan 30, 2018)
10-70255723-G-A		not specified	Uncertain significance (Jun 30, 2022)
10-70255733-T-C		not specified	Uncertain significance (Jul 05, 2023)
10-70255757-T-C		not specified	Uncertain significance (May 27, 2022)
10-70255784-G-C		not specified	Uncertain significance (Dec 18, 2023)
10-70260691-C-T		not specified	Uncertain significance (Nov 30, 2022)
10-70260701-A-C		not specified	Uncertain significance (Mar 08, 2024)
10-70260705-G-A			Benign (Feb 22, 2018)

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

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