P2RY8

P2Y receptor family member 8, the group of G protein-coupled receptors, Class A orphans|Pseudoautosomal region 1

Basic information

Region (hg38): X:1462580-1537185

Links

ENSG00000182162

∙ NCBI:286530 ∙ OMIM:300525 ∙ HGNC:15524 ∙ Uniprot:Q86VZ1 ∙ 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 P2RY8 gene.

Multiple myeloma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RY8 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		1 clinvar				1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	1	0	0	0

Variants in P2RY8

This is a list of pathogenic ClinVar variants found in the P2RY8 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-1465690-G-C		Multiple myeloma	Likely pathogenic (Aug 31, 2019)	800347

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
P2RY8	protein_coding	protein_coding	ENST00000381297	1	74536

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00340	0.631	125406	0	5	125411	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.73	184	263	0.699	0.0000191	2300
Missense in Polyphen		24	78.863	0.30432		804
Synonymous	0.0453	127	128	0.995	0.00000992	807
Loss of Function	0.495	4	5.22	0.766	2.23e-7	54

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000907	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000266	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Probable receptor for purines coupled to G-proteins.;
Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.119

Intolerance Scores

loftool: 0.152
rvis_EVS: -0.25
rvis_percentile_EVS: 35.99

Haploinsufficiency Scores

pHI: 0.0817
hipred: N
hipred_score: 0.445
ghis: 0.570

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.429

Gene Damage Prediction

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

Gene ontology

Biological process: positive regulation of Rho protein signal transduction;G protein-coupled purinergic nucleotide receptor signaling pathway;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway
Cellular component: integral component of plasma membrane
Molecular function: G protein-coupled receptor activity;G protein-coupled purinergic nucleotide receptor activity