NPY6R
Basic information
Region (hg38): 5:137808211-137809322
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 NPY6R 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 | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: When expressed, is unable to bind pancreatic polypeptide (PP), neuropeptide Y (NPY), or peptide YY (PYY), suggesting that either it is functionally inactive or that it may have acquired a pancreatic polypeptide-independent function. {ECO:0000269|PubMed:8910290, ECO:0000269|PubMed:8910373}.;
- Pathway
- Peptide GPCRs;GPCRs, Class A Rhodopsin-like
(Consensus)
Haploinsufficiency Scores
- pHI
- 0.650
- hipred
- hipred_score
- ghis
Mouse Genome Informatics
- Gene name
- Npy6r
- Phenotype
- digestive/alimentary phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;neuropeptide signaling pathway
- Cellular component
- integral component of membrane
- Molecular function
- pancreatic polypeptide receptor activity;neuropeptide Y receptor activity