P2RX6
Basic information
Region (hg38): 22:21009808-21028013
Previous symbols: [ "P2RXL1" ]
Links
Phenotypes
GenCC
Source:
- myopathy (Limited), mode of inheritance: AR
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (62 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RX6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005446.5. 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 | 0 | |||||
| missense | 55 | 62 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 55 | 7 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| P2RX6 | protein_coding | protein_coding | ENST00000413302 | 12 | 19023 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 4.47e-9 | 0.591 | 125372 | 0 | 221 | 125593 | 0.000880 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.840 | 212 | 249 | 0.850 | 0.0000148 | 2789 |
| Missense in Polyphen | 83 | 90.942 | 0.91267 | 1175 | ||
| Synonymous | -0.184 | 110 | 108 | 1.02 | 0.00000720 | 849 |
| Loss of Function | 1.20 | 16 | 22.1 | 0.724 | 0.00000104 | 244 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00152 | 0.00151 |
| Ashkenazi Jewish | 0.00371 | 0.00358 |
| East Asian | 0.000272 | 0.000272 |
| Finnish | 0.000188 | 0.000185 |
| European (Non-Finnish) | 0.000993 | 0.000987 |
| Middle Eastern | 0.000272 | 0.000272 |
| South Asian | 0.000462 | 0.000457 |
| Other | 0.00131 | 0.00131 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for ATP that acts as a ligand-gated ion channel. {ECO:0000250}.;
- Pathway
- Calcium signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Hemostasis;Elevation of cytosolic Ca2+ levels;Platelet calcium homeostasis;Platelet homeostasis
(Consensus)
Recessive Scores
- pRec
- 0.122
Intolerance Scores
- loftool
- 0.987
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 40.56
Haploinsufficiency Scores
- pHI
- 0.0582
- hipred
- N
- hipred_score
- 0.180
- ghis
- 0.587
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.971
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- P2rx6
- Phenotype
- homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Gene ontology
- Biological process
- cation transport;muscle contraction;signal transduction;blood coagulation;response to ATP;ion transmembrane transport;purinergic nucleotide receptor signaling pathway;protein homooligomerization;protein heterooligomerization;excitatory postsynaptic potential;cation transmembrane transport
- Cellular component
- integral component of nuclear inner membrane;cytoplasm;plasma membrane;integral component of plasma membrane;postsynaptic density;integral component of membrane;cell junction;neuronal cell body;dendritic spine;parallel fiber to Purkinje cell synapse;glutamatergic synapse;integral component of postsynaptic specialization membrane
- Molecular function
- purinergic nucleotide receptor activity;transmembrane signaling receptor activity;extracellularly ATP-gated cation channel activity;ATP binding;channel activity;ATP-gated ion channel activity;identical protein binding