NPB

neuropeptide B, the group of Neuropeptides

Basic information

Region (hg38): 17:81900744-81902905

Links

ENSG00000183979 ∙ NCBI:256933 ∙ OMIM:607996 ∙ HGNC:30099 ∙ Uniprot:Q8NG41 ∙ 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 NPB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NPB 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in NPB

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

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

Position	Type	Phenotype	Significance	ClinVar
17-81902312-T-C		not specified	Uncertain significance (Aug 04, 2023)
17-81902335-C-T		not specified	Uncertain significance (Oct 06, 2022)
17-81902368-G-A		not specified	Uncertain significance (May 13, 2024)
17-81902399-C-G		not specified	Uncertain significance (Dec 13, 2023)
17-81902411-C-G		not specified	Uncertain significance (Aug 22, 2022)
17-81902414-G-A		not specified	Uncertain significance (May 10, 2024)
17-81902420-G-A		not specified	Uncertain significance (Sep 22, 2021)
17-81902426-C-T		not specified	Uncertain significance (Dec 15, 2022)
17-81902515-C-A		not specified	Uncertain significance (Sep 16, 2021)
17-81902524-C-G		not specified	Uncertain significance (Dec 17, 2023)
17-81902676-C-A		not specified	Uncertain significance (Feb 15, 2023)
17-81902740-G-A		not specified	Uncertain significance (Aug 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NPB	protein_coding	protein_coding	ENST00000333383	2	2161

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0989	0.597	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0695	37	35.8	1.03	0.00000177	744
Missense in Polyphen		8	7.2664	1.101		240
Synonymous	-0.463	21	18.5	1.14	0.00000100	304
Loss of Function	0.133	1	1.15	0.866	5.41e-8	28

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the regulation of feeding, neuroendocrine system, memory, learning and in the afferent pain pathway. {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: 0.165

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.243
• ghis: 0.484

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.392

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Npb
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

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