PNOC

prepronociceptin, the group of Neuropeptides

Basic information

Region (hg38): 8:28316986-28343355

Links

ENSG00000168081 ∙ NCBI:5368 ∙ OMIM:601459 ∙ HGNC:9163 ∙ Uniprot:Q13519 ∙ 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 PNOC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PNOC 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	1
missense			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	1

Variants in PNOC

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

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

Position	Type	Phenotype	Significance	ClinVar
8-28329237-C-T		not specified	Uncertain significance (Apr 22, 2022)
8-28339074-C-G		not specified	Uncertain significance (Mar 15, 2024)
8-28339078-C-A		not specified	Uncertain significance (Dec 01, 2022)
8-28339097-A-G		not specified	Uncertain significance (Oct 29, 2021)
8-28339131-G-A		not specified	Uncertain significance (Jan 29, 2024)
8-28339145-G-A		not specified	Uncertain significance (Apr 25, 2023)
8-28339155-C-T		not specified	Uncertain significance (Jan 10, 2022)
8-28339212-G-A		not specified	Uncertain significance (Sep 23, 2023)
8-28339218-G-A		not specified	Uncertain significance (Mar 08, 2024)
8-28339235-C-A		not specified	Uncertain significance (Mar 27, 2023)
8-28339241-G-A		not specified	Uncertain significance (Apr 26, 2024)
8-28339247-G-A		not specified	Uncertain significance (Apr 17, 2023)
8-28339288-G-C		not specified	Uncertain significance (Jan 18, 2022)
8-28339315-C-T			Benign (Jun 18, 2018)
8-28339384-G-C		not specified	Uncertain significance (Oct 30, 2023)
8-28339385-G-A		not specified	Uncertain significance (Apr 18, 2023)
8-28339413-G-A		not specified	Uncertain significance (May 08, 2023)
8-28339434-G-C		not specified	Uncertain significance (Aug 23, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PNOC	protein_coding	protein_coding	ENST00000301908	2	26370

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0150	0.886	125727	0	5	125732	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.639	90	109	0.827	0.00000653	1164
Missense in Polyphen		21	30.788	0.68209		331
Synonymous	0.725	38	44.1	0.861	0.00000262	336
Loss of Function	1.38	4	8.29	0.483	5.25e-7	76

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Nociceptin: Ligand of the opioid receptor-like receptor OPRL1. It may act as a transmitter in the brain by modulating nociceptive and locomotor behavior. May be involved in neuronal differentiation and development. {ECO:0000250|UniProtKB:P55791}.; FUNCTION: Orphanin FQ2: Has potent analgesic activity. {ECO:0000250|UniProtKB:Q64387}.
• Pathway: Vitamin D Receptor 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: 0.177

Intolerance Scores

• loftool: 0.362
• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• pHI: 0.350
• hipred: N
• hipred_score: 0.248
• ghis: 0.651

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pnoc
• 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)

Zebrafish Information Network

• Gene name: pnocb
• Affected structure: solid lens vesicle
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: signal transduction;G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;chemical synaptic transmission;female pregnancy;sensory perception;regulation of signaling receptor activity
• Cellular component: extracellular region;plasma membrane;dendrite;neuronal cell body;axon terminus
• Molecular function: opioid peptide activity;neuropeptide hormone activity;opioid receptor binding