PYY
Basic information
Region (hg38): 17:43952733-44004469
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PYY 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 | |||||
missense | 14 | 17 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 7 | |||||
Total | 0 | 0 | 15 | 0 | 10 |
Variants in PYY
This is a list of pathogenic ClinVar variants found in the PYY region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-43952807-G-T | Benign (Jul 09, 2018) | |||
17-43952978-G-A | not specified | Uncertain significance (Dec 19, 2023) | ||
17-43953041-G-A | Benign (Jul 09, 2018) | |||
17-43953127-T-C | not specified | Uncertain significance (Dec 19, 2022) | ||
17-43953131-C-T | not specified | Uncertain significance (Mar 17, 2023) | ||
17-43953137-C-T | not specified | Uncertain significance (Mar 02, 2023) | ||
17-43953146-A-C | not specified | Uncertain significance (Apr 07, 2022) | ||
17-43953152-T-C | not specified | Uncertain significance (Jun 29, 2023) | ||
17-43953157-A-G | not specified | Uncertain significance (Oct 06, 2024) | ||
17-43953160-A-G | Benign (Aug 16, 2018) | |||
17-43953163-G-C | Benign (Jul 09, 2018) | |||
17-43953169-G-A | not specified | Uncertain significance (Jul 19, 2022) | ||
17-43953169-G-C | not specified | Uncertain significance (Oct 17, 2023) | ||
17-43953182-T-G | not specified | Uncertain significance (Oct 30, 2024) | ||
17-43953188-A-C | not specified | Uncertain significance (Jul 19, 2023) | ||
17-43953299-T-G | Obesity | Uncertain significance (Feb 01, 2006) | ||
17-43953302-C-A | not specified | Uncertain significance (Nov 09, 2024) | ||
17-43953306-T-C | not specified | Uncertain significance (May 18, 2023) | ||
17-43953306-T-G | not specified | Uncertain significance (Jun 16, 2024) | ||
17-43953312-G-T | not specified | Uncertain significance (Jul 30, 2023) | ||
17-43953334-G-A | Benign (Jul 18, 2018) | |||
17-43953335-G-A | not specified | Uncertain significance (Jan 04, 2022) | ||
17-43953345-G-T | not specified | Uncertain significance (Oct 25, 2024) | ||
17-43953375-G-C | Benign (Dec 19, 2019) | |||
17-43953444-C-G | not specified | Uncertain significance (Dec 14, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PYY | protein_coding | protein_coding | ENST00000360085 | 3 | 51732 |
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 | 125673 | 0 | 7 | 125680 | 0.0000278 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.304 | 63 | 56.6 | 1.11 | 0.00000260 | 592 |
Missense in Polyphen | 18 | 16.373 | 1.0994 | 197 | ||
Synonymous | 0.0331 | 28 | 28.2 | 0.992 | 0.00000131 | 214 |
Loss of Function | 0.477 | 3 | 4.03 | 0.744 | 1.71e-7 | 46 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000193 | 0.000185 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000359 | 0.0000352 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: This gut peptide inhibits exocrine pancreatic secretion, has a vasoconstrictory action and inhibitis jejunal and colonic mobility.;
- Pathway
- Sympathetic Nerve Pathway (Neuroeffector Junction);SCFA and skeletal muscle substrate metabolism;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)
Intolerance Scores
- loftool
- 0.226
- rvis_EVS
- 0.52
- rvis_percentile_EVS
- 80.46
Haploinsufficiency Scores
- pHI
- 0.126
- hipred
- N
- hipred_score
- 0.292
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.100
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pyy
- Phenotype
- skeleton phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue 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;feeding behavior;cell population proliferation;regulation of signaling receptor activity
- Cellular component
- extracellular region;extracellular space
- Molecular function
- G protein-coupled receptor binding;hormone activity;neuropeptide hormone activity;protein binding