P2RY11

purinergic receptor P2Y11, the group of P2Y receptors

Basic information

Region (hg38): 19:10111693-10115372

Links

ENSG00000244165 ∙ NCBI:5032 ∙ OMIM:602697 ∙ HGNC:8540 ∙ Uniprot:Q96G91 ∙ 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 P2RY11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RY11 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				13	6	19
missense			2	2	3	7
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	16	9

Variants in P2RY11

This is a list of pathogenic ClinVar variants found in the P2RY11 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-10111734-G-A			Benign (Dec 31, 2019)
19-10113670-C-T		not specified	Likely benign (Jul 26, 2024)
19-10113754-C-A		PPAN-P2RY11-related disorder	Benign (Dec 31, 2019)
19-10113793-A-G			Likely benign (Apr 01, 2023)
19-10113805-C-T		not specified	Likely benign (Aug 08, 2023)
19-10113811-C-A			Likely benign (Jun 13, 2018)
19-10113811-C-T		PPAN-P2RY11-related disorder	Likely benign (Apr 10, 2020)
19-10113820-C-A		P2RY11-related disorder	Likely benign (Jan 12, 2023)
19-10113826-G-A		not specified	Likely benign (Nov 11, 2024)
19-10113847-C-T			Benign/Likely benign (Jul 01, 2022)
19-10113863-C-T		not specified	Uncertain significance (Mar 14, 2023)
19-10113871-C-T			Likely benign (Jun 12, 2018)
19-10113872-G-A		P2RY11-related disorder	Benign (Oct 21, 2019)
19-10113943-C-T			Benign (Dec 31, 2019)
19-10113953-C-T			Likely benign (Feb 06, 2018)
19-10113961-C-T			Benign (Dec 31, 2019)
19-10114018-C-T			Likely benign (Jul 06, 2018)
19-10114083-C-T		not specified	Uncertain significance (Nov 18, 2022)
19-10114109-A-G		P2RY11-related disorder	Likely benign (Jul 07, 2020)
19-10114168-C-T		P2RY11-related disorder	Likely benign (Feb 21, 2019)
19-10114261-G-A			Benign (Dec 31, 2019)
19-10114288-C-T		P2RY11-related disorder	Likely benign (Jun 12, 2019)
19-10114297-C-T			Likely benign (Oct 26, 2017)
19-10114336-C-T			Likely benign (Apr 23, 2018)
19-10114357-G-A		PPAN-P2RY11-related disorder	Likely benign (Feb 21, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
P2RY11	protein_coding	protein_coding	ENST00000321826	2	3835

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00771	0.566	124566	0	11	124577	0.0000442

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.47	323	257	1.26	0.0000178	2329
Missense in Polyphen		95	79.025	1.2021		835
Synonymous	-3.82	176	122	1.44	0.00000914	830
Loss of Function	0.150	3	3.29	0.911	1.41e-7	32

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000871	0.0000871
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000451	0.0000449
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for ATP and ADP coupled to G-proteins that activate both phosphatidylinositol-calcium and adenylyl cyclase second messenger systems. Not activated by UTP or UDP.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;P2Y receptors;G alpha (s) signalling events;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.135

Intolerance Scores

• loftool: 0.708
• rvis_EVS: 0.3
• rvis_percentile_EVS: 71.68

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.532

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Gene ontology

• Biological process: adenosine receptor signaling pathway;defense response;G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;phospholipase C-activating G protein-coupled receptor signaling pathway;calcium-mediated signaling;neuronal signal transduction;G protein-coupled purinergic nucleotide receptor signaling pathway;cellular response to ATP
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: neurotransmitter receptor activity;signaling receptor activity;G protein-coupled purinergic nucleotide receptor activity;ATP-activated adenosine receptor activity