P2RY4
Basic information
Region (hg38): X:70258165-70260204
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 P2RY4 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 | 26 | 29 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 26 | 1 | 2 |
Variants in P2RY4
This is a list of pathogenic ClinVar variants found in the P2RY4 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-70258565-C-A | not specified | Uncertain significance (Jul 15, 2021) | ||
X-70258636-G-A | not specified | Uncertain significance (Mar 19, 2024) | ||
X-70258663-C-T | not specified | Uncertain significance (Feb 27, 2024) | ||
X-70258672-C-T | Benign (Jan 19, 2018) | |||
X-70258681-C-T | not specified | Uncertain significance (Jan 24, 2024) | ||
X-70258748-G-C | not specified | Uncertain significance (Sep 06, 2022) | ||
X-70258789-C-T | not specified | Likely benign (Dec 28, 2023) | ||
X-70258831-C-A | not specified | Uncertain significance (Apr 05, 2023) | ||
X-70258876-A-G | not specified | Uncertain significance (Feb 13, 2024) | ||
X-70258891-C-T | not specified | Uncertain significance (Apr 15, 2024) | ||
X-70258900-C-T | not specified | Uncertain significance (Sep 29, 2022) | ||
X-70258906-C-T | not specified | Uncertain significance (Dec 18, 2023) | ||
X-70258915-G-A | not specified | Uncertain significance (Jun 27, 2023) | ||
X-70258968-G-C | not specified | Uncertain significance (Jan 16, 2024) | ||
X-70259132-C-T | not specified | Uncertain significance (Oct 12, 2022) | ||
X-70259138-C-G | not specified | Uncertain significance (Nov 22, 2021) | ||
X-70259138-C-T | not specified | Uncertain significance (Feb 07, 2023) | ||
X-70259177-G-A | not specified | Uncertain significance (Jun 29, 2023) | ||
X-70259183-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
X-70259227-C-T | not specified | Uncertain significance (Jun 29, 2022) | ||
X-70259242-C-G | not specified | Uncertain significance (Feb 05, 2024) | ||
X-70259255-G-A | not specified | Uncertain significance (Jun 02, 2023) | ||
X-70259291-G-A | not specified | Uncertain significance (Nov 03, 2022) | ||
X-70259437-C-T | not specified | Uncertain significance (Dec 16, 2023) | ||
X-70259438-G-A | not specified | Uncertain significance (Jun 07, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
P2RY4 | protein_coding | protein_coding | ENST00000374519 | 1 | 1639 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.169 | 0.777 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.317 | 174 | 163 | 1.07 | 0.0000144 | 2323 |
Missense in Polyphen | 44 | 37.428 | 1.1756 | 686 | ||
Synonymous | 0.601 | 62 | 68.3 | 0.908 | 0.00000569 | 821 |
Loss of Function | 1.58 | 2 | 6.29 | 0.318 | 5.46e-7 | 90 |
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:
- Function
- FUNCTION: Receptor for UTP and UDP coupled to G-proteins that activate a phosphatidylinositol-calcium second messenger system. Not activated by ATP or ADP.;
- Pathway
- Neuroactive ligand-receptor interaction - Homo sapiens (human);Taste transduction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Nucleotide GPCRs;Signaling by GPCR;Signal Transduction;P2Y receptors;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.168
Intolerance Scores
- loftool
- 0.445
- rvis_EVS
- 1.46
- rvis_percentile_EVS
- 95.21
Haploinsufficiency Scores
- pHI
- 0.0960
- 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
- 0.0736
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- P2ry4
- Phenotype
- digestive/alimentary phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;transepithelial chloride transport;G protein-coupled purinergic nucleotide receptor signaling pathway;cellular response to ATP;cellular response to prostaglandin E stimulus;regulation of presynaptic cytosolic calcium ion concentration;regulation of synaptic vesicle exocytosis
- Cellular component
- plasma membrane;integral component of plasma membrane;basolateral plasma membrane;apical plasma membrane;glutamatergic synapse;integral component of presynaptic active zone membrane
- Molecular function
- ATP binding;uridine nucleotide receptor activity;G protein-coupled purinergic nucleotide receptor activity;UTP-activated nucleotide receptor activity