P2RX1
purinergic receptor P2X 1, the group of Purinergic receptors P2X
Basic information
Region (hg38): 17:3896592-3916476
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (52 variants)
- P2RX1-related_disorder (17 variants)
- not_provided (4 variants)
- Platelet-type_bleeding_disorder_8 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RX1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002558.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 8 | |||||
| missense | 54 | 58 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 54 | 9 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| P2RX1 | protein_coding | protein_coding | ENST00000225538 | 12 | 19909 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 6.76e-11 | 0.240 | 125643 | 0 | 105 | 125748 | 0.000418 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.02 | 197 | 242 | 0.815 | 0.0000158 | 2626 |
| Missense in Polyphen | 72 | 107.13 | 0.67206 | 1256 | ||
| Synonymous | 0.135 | 96 | 97.7 | 0.983 | 0.00000678 | 768 |
| Loss of Function | 0.813 | 18 | 22.1 | 0.813 | 0.00000114 | 241 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00160 | 0.00160 |
| Ashkenazi Jewish | 0.0000993 | 0.0000992 |
| East Asian | 0.000497 | 0.000489 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000134 | 0.000132 |
| Middle Eastern | 0.000497 | 0.000489 |
| South Asian | 0.000817 | 0.000817 |
| Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity). {ECO:0000250}.;
- Pathway
- Platelet activation - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;Neutrophil degranulation;Innate Immune System;Immune System;Hemostasis;Elevation of cytosolic Ca2+ levels;Platelet calcium homeostasis;Platelet homeostasis
(Consensus)
Recessive Scores
- pRec
- 0.171
Intolerance Scores
- loftool
- 0.872
- rvis_EVS
- -0.49
- rvis_percentile_EVS
- 22.51
Haploinsufficiency Scores
- pHI
- 0.0840
- hipred
- N
- hipred_score
- 0.239
- ghis
- 0.480
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.157
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- P2rx1
- Phenotype
- cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); reproductive system phenotype;
Gene ontology
- Biological process
- serotonin secretion by platelet;regulation of vascular smooth muscle contraction;ion transport;cation transport;apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;signal transduction;insemination;blood coagulation;regulation of blood pressure;neuronal action potential;platelet activation;response to ATP;ion transmembrane transport;synaptic transmission, glutamatergic;purinergic nucleotide receptor signaling pathway;positive regulation of ion transport;neutrophil degranulation;ceramide biosynthetic process;protein homooligomerization;protein heterooligomerization;regulation of calcium ion transport;excitatory postsynaptic potential;cation transmembrane transport;ATP hydrolysis coupled ion transmembrane transport;ATP hydrolysis coupled cation transmembrane transport;regulation of presynaptic cytosolic calcium ion concentration;regulation of synaptic vesicle exocytosis
- Cellular component
- integral component of nuclear inner membrane;plasma membrane;integral component of plasma membrane;external side of plasma membrane;integral component of membrane;secretory granule membrane;protein-containing complex;specific granule membrane;neuron projection;membrane raft;glutamatergic synapse;integral component of postsynaptic membrane;integral component of presynaptic active zone membrane
- Molecular function
- purinergic nucleotide receptor activity;extracellularly ATP-gated cation channel activity;cation channel activity;ATP binding;zinc ion binding;ATP-gated ion channel activity