NPW

neuropeptide W, the group of Neuropeptides

Basic information

Region (hg38): 16:2009925-2020755

Links

ENSG00000183971 ∙ NCBI:283869 ∙ OMIM:607997 ∙ HGNC:30509 ∙ Uniprot:Q8N729 ∙ 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 NPW gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NPW 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in NPW

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

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

Position	Type	Phenotype	Significance	ClinVar
16-2019963-T-G		not specified	Uncertain significance (Oct 04, 2022)
16-2020098-T-G		not specified	Uncertain significance (Jul 28, 2021)
16-2020100-C-A		not specified	Uncertain significance (May 16, 2023)
16-2020115-C-T		not specified	Uncertain significance (Feb 27, 2023)
16-2020137-C-T		not specified	Uncertain significance (Nov 18, 2023)
16-2020142-G-A		not specified	Uncertain significance (May 01, 2024)
16-2020145-C-A		not specified	Uncertain significance (Jun 22, 2024)
16-2020222-G-C		not specified	Uncertain significance (Aug 08, 2023)
16-2020554-C-G		not specified	Uncertain significance (Jul 13, 2022)
16-2020564-T-C		not specified	Uncertain significance (Jan 03, 2024)
16-2020581-C-T		not specified	Uncertain significance (Aug 09, 2021)
16-2020594-C-A		not specified	Uncertain significance (Apr 06, 2023)
16-2020609-G-T		not specified	Uncertain significance (Jun 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NPW	protein_coding	protein_coding	ENST00000329610	2	10830

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000882	0.359	121367	0	2	121369	0.00000824

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.107	67	69.5	0.964	0.00000319	951
Missense in Polyphen		14	19.264	0.72675		256
Synonymous	-0.539	37	33.1	1.12	0.00000153	409
Loss of Function	-0.459	4	3.12	1.28	1.34e-7	39

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000102	0.000101
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000104	0.00000920
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a regulatory role in the organization of neuroendocrine signals accessing the anterior pituitary gland. Stimulates water drinking and food intake. May play a role in the hypothalamic response to stress (By similarity). NPW23 activates GPR7 and GPR8 more efficiently than NPW30. {ECO:0000250}.
• Pathway: Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.100

Haploinsufficiency Scores

• pHI: 0.0971

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.402

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Npw

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;feeding behavior
• Cellular component: extracellular region
• Molecular function: G protein-coupled receptor binding;protein binding