NPFF

neuropeptide FF-amide peptide precursor, the group of Neuropeptides

Basic information

Region (hg38): 12:53506687-53507484

Links

ENSG00000139574 ∙ NCBI:8620 ∙ OMIM:604643 ∙ HGNC:7901 ∙ Uniprot:O15130 ∙ 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 NPFF gene.

• Inborn genetic diseases (7 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NPFF 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			5	2	2	9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	2	2

Variants in NPFF

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

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

Position	Type	Phenotype	Significance	ClinVar
12-53506801-G-A		not specified	Uncertain significance (Jul 09, 2021)
12-53506856-A-G			Benign (Dec 31, 2019)
12-53506882-T-C			Benign (Dec 31, 2019)
12-53506891-A-G		not specified	Uncertain significance (Apr 12, 2022)
12-53507051-C-T		not specified	Uncertain significance (Mar 01, 2024)
12-53507136-C-G		not specified	Uncertain significance (Sep 14, 2022)
12-53507423-C-T		not specified	Likely benign (May 16, 2022)
12-53507426-C-A		not specified	Uncertain significance (Sep 06, 2022)
12-53507461-T-C		not specified	Likely benign (Mar 23, 2022)
12-53507464-C-G		not specified	Uncertain significance (Dec 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NPFF	protein_coding	protein_coding	ENST00000267017	3	949

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000365	0.221	125691	0	18	125709	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.461	52	62.2	0.836	0.00000341	716
Missense in Polyphen		16	16.577	0.96518		215
Synonymous	1.86	15	27.3	0.549	0.00000145	235
Loss of Function	-0.545	6	4.72	1.27	2.02e-7	51

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000873	0.000862
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000361	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Morphine modulating peptides. Have wide-ranging physiologic effects, including the modulation of morphine-induced analgesia, elevation of arterial blood pressure, and increased somatostatin secretion from the pancreas. Neuropeptide FF potentiates and sensitizes ASIC1 and ASIC3 channels. {ECO:0000269|PubMed:11587714}.
• 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)

Intolerance Scores

• loftool: 0.770
• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.28

Haploinsufficiency Scores

• pHI: 0.0687
• hipred: N
• hipred_score: 0.123
• ghis: 0.473

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0284

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Npff

Gene ontology

• Biological process: acute inflammatory response to antigenic stimulus;regulation of membrane depolarization;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;neuropeptide signaling pathway;chemical synaptic transmission;negative regulation of heart rate;regulation of signaling receptor activity;spinal cord development;vasopressin secretion;negative regulation of appetite;response to morphine;positive regulation of blood pressure;negative regulation of insulin secretion;regulation of sensory perception of pain;excitatory postsynaptic potential;maternal process involved in female pregnancy;somatostatin secretion
• Cellular component: extracellular region;extracellular space;dendrite;vesicle;perikaryon;axon terminus;postsynapse
• Molecular function: G protein-coupled receptor binding;signaling receptor binding;neuropeptide hormone activity