P2RY1

purinergic receptor P2Y1, the group of P2Y receptors

Basic information

Region (hg38): 3:152835130-152841439

Links

ENSG00000169860 ∙ NCBI:5028 ∙ OMIM:601167 ∙ HGNC:8539 ∙ Uniprot:P47900 ∙ 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 P2RY1 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RY1 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in P2RY1

This is a list of pathogenic ClinVar variants found in the P2RY1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-152835792-G-A		not specified	Uncertain significance (Jul 27, 2023)
3-152835843-C-G		not specified	Uncertain significance (Apr 27, 2022)
3-152835847-G-A		not specified	Uncertain significance (Jun 29, 2023)
3-152835888-G-C		not specified	Uncertain significance (Aug 12, 2021)
3-152836066-T-C		not specified	Uncertain significance (Oct 12, 2022)
3-152836120-A-G		not specified	Uncertain significance (Jan 26, 2022)
3-152836295-C-G		not specified	Uncertain significance (May 13, 2022)
3-152836449-G-A		not specified	Uncertain significance (Mar 16, 2022)
3-152836660-C-T		not specified	Uncertain significance (Nov 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
P2RY1	protein_coding	protein_coding	ENST00000305097	1	3106

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.515	0.481	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.61	148	214	0.690	0.0000112	2438
Missense in Polyphen		51	98.596	0.51726		1143
Synonymous	0.0488	93	93.6	0.994	0.00000531	773
Loss of Function	2.44	2	10.6	0.190	6.21e-7	122

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: Receptor for extracellular adenine nucleotides such as ADP (PubMed:9442040, PubMed:9038354, PubMed:25822790). In platelets, binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and ultimately platelet aggregation (PubMed:9442040). {ECO:0000269|PubMed:25822790, ECO:0000269|PubMed:9038354, ECO:0000269|PubMed:9442040}.
• Pathway: Platelet activation - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Taste transduction - Homo sapiens (human);Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;GPCRs, Class A Rhodopsin-like;Nucleotide GPCRs;Signaling by GPCR;Signal Transduction;P2Y receptors;Signal amplification;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Platelet activation, signaling and aggregation;ADP signalling through P2Y purinoceptor 1;Hemostasis;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.246

Intolerance Scores

• loftool: 0.305
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.388
• hipred: Y
• hipred_score: 0.651
• ghis: 0.549

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.501

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: P2ry1
• Phenotype: homeostasis/metabolism phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: positive regulation of protein phosphorylation;adenosine receptor signaling pathway;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;aging;glial cell migration;regulation of cell shape;response to mechanical stimulus;regulation of signaling receptor activity;negative regulation of norepinephrine secretion;sensory perception of pain;signal transduction involved in regulation of gene expression;platelet activation;positive regulation of inositol trisphosphate biosynthetic process;G protein-coupled purinergic nucleotide receptor signaling pathway;eating behavior;positive regulation of ion transport;positive regulation of transcription by RNA polymerase II;positive regulation of hormone secretion;negative regulation of binding;positive regulation of penile erection;positive regulation of ERK1 and ERK2 cascade;response to growth factor;cellular response to ATP;cellular response to purine-containing compound;protein localization to plasma membrane;relaxation of muscle;regulation of blood vessel diameter;regulation of presynaptic cytosolic calcium ion concentration;regulation of synaptic vesicle exocytosis
• Cellular component: mitochondrion;plasma membrane;integral component of plasma membrane;cell surface;postsynaptic density;basolateral plasma membrane;apical plasma membrane;dendrite;cell body;postsynaptic membrane;glutamatergic synapse;integral component of presynaptic active zone membrane
• Molecular function: protein binding;ATP binding;A1 adenosine receptor binding;signaling receptor activity;ADP binding;G protein-coupled purinergic nucleotide receptor activity;ATP-activated adenosine receptor activity;ADP-activated adenosine receptor activity;protein heterodimerization activity;scaffold protein binding