PPY

pancreatic polypeptide, the group of Neuropeptides

Basic information

Region (hg38): 17:43940804-43942476

Links

ENSG00000108849 ∙ NCBI:5539 ∙ OMIM:167780 ∙ HGNC:9327 ∙ Uniprot:P01298 ∙ 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 PPY gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPY 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			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	0

Variants in PPY

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

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

Position	Type	Phenotype	Significance	ClinVar
17-43941176-G-A		not specified	Likely benign (Aug 02, 2021)
17-43941197-T-A		not specified	Uncertain significance (Jan 30, 2024)
17-43941213-A-T		not specified	Uncertain significance (Dec 20, 2023)
17-43941214-C-A		not specified	Uncertain significance (Oct 19, 2024)
17-43941470-C-A		not specified	Uncertain significance (Mar 24, 2023)
17-43941528-G-A		not specified	Uncertain significance (Aug 30, 2021)
17-43941606-C-T		not specified	Uncertain significance (Mar 20, 2023)
17-43941641-C-T		not specified	Uncertain significance (Aug 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPY	protein_coding	protein_coding	ENST00000591228	3	1665

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0118	0.656	125472	3	264	125739	0.00106

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.758	40	56.0	0.715	0.00000327	582
Missense in Polyphen		8	14.489	0.55215		164
Synonymous	-1.43	36	26.6	1.35	0.00000166	207
Loss of Function	0.478	3	4.04	0.743	1.71e-7	47

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000968	0.0000967
Middle Eastern	0.00	0.00
South Asian	0.00826	0.00820
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Pancreatic hormone is synthesized in pancreatic islets of Langerhans and acts as a regulator of pancreatic and gastrointestinal functions.
• Pathway: Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.286

Intolerance Scores

• loftool: 0.394
• rvis_EVS: 0.37
• rvis_percentile_EVS: 74.95

Haploinsufficiency Scores

• pHI: 0.179
• hipred: N
• hipred_score: 0.215

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ppy

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;protein secretion;regulation of signaling receptor activity
• Cellular component: extracellular region;extracellular space;cytoplasm
• Molecular function: G protein-coupled receptor binding;hormone activity;neuropeptide hormone activity