ADORA1
adenosine A1 receptor, the group of Adenosine receptors
Basic information
Region (hg38): 1:203090654-203167405
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (28 variants)
- not_provided (10 variants)
- ADORA1-related_disorder (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADORA1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000674.3. 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 | 5 | |||||
| missense | 26 | 31 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 26 | 8 | 2 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ADORA1 | protein_coding | protein_coding | ENST00000367236 | 2 | 76752 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0152 | 0.887 | 125726 | 0 | 9 | 125735 | 0.0000358 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.27 | 119 | 212 | 0.562 | 0.0000134 | 2110 |
| Missense in Polyphen | 29 | 85.755 | 0.33817 | 911 | ||
| Synonymous | 0.295 | 95 | 98.7 | 0.962 | 0.00000724 | 687 |
| Loss of Function | 1.39 | 4 | 8.32 | 0.481 | 3.55e-7 | 93 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000905 | 0.0000905 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000370 | 0.0000352 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000655 | 0.0000327 |
| Other | 0.000181 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase.;
- Pathway
- Regulation of lipolysis in adipocytes - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Renin secretion - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Morphine addiction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Nucleotide GPCRs;Signaling by GPCR;Signal Transduction;Adenosine P1 receptors;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Nucleotide-like (purinergic) receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.239
Intolerance Scores
- loftool
- 0.615
- rvis_EVS
- -0.2
- rvis_percentile_EVS
- 38.82
Haploinsufficiency Scores
- pHI
- 0.136
- hipred
- Y
- hipred_score
- 0.573
- ghis
- 0.637
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.595
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Adora1
- Phenotype
- homeostasis/metabolism 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); 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); normal phenotype; 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); renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype;
Gene ontology
- Biological process
- activation of MAPKK activity;temperature homeostasis;response to hypoxia;adenosine receptor signaling pathway;regulation of respiratory gaseous exchange by neurological system process;negative regulation of acute inflammatory response;negative regulation of leukocyte migration;positive regulation of peptide secretion;positive regulation of systemic arterial blood pressure;negative regulation of systemic arterial blood pressure;regulation of glomerular filtration;protein targeting to membrane;phagocytosis;inflammatory response;signal transduction;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;cell-cell signaling;nervous system development;negative regulation of cell population proliferation;negative regulation of glutamate secretion;lipid catabolic process;negative regulation of synaptic transmission, GABAergic;positive regulation of nucleoside transport;negative regulation of neurotrophin production;positive regulation of protein dephosphorylation;negative regulation of renal sodium excretion;negative regulation of circadian sleep/wake cycle, non-REM sleep;negative regulation of apoptotic process;positive regulation of potassium ion transport;positive regulation of epidermal growth factor-activated receptor activity;negative regulation of heart contraction;negative regulation of hormone secretion;cognition;detection of temperature stimulus involved in sensory perception of pain;negative regulation of lipid catabolic process;positive regulation of lipid catabolic process;regulation of sensory perception of pain;negative regulation of synaptic transmission, glutamatergic;fatty acid homeostasis;excitatory postsynaptic potential;relaxation of vascular smooth muscle;negative regulation of mucus secretion;triglyceride homeostasis;regulation of cardiac muscle cell contraction;apoptotic signaling pathway;negative regulation of blood vessel diameter;regulation of presynaptic cytosolic calcium ion concentration;negative regulation of long-term synaptic potentiation;negative regulation of long-term synaptic depression;positive regulation of neuron death
- Cellular component
- endoplasmic reticulum;plasma membrane;integral component of plasma membrane;postsynaptic density;basolateral plasma membrane;axolemma;neuronal cell body;terminal bouton;dendritic spine;calyx of Held;presynaptic active zone;integral component of postsynaptic membrane;integral component of presynaptic membrane
- Molecular function
- G protein-coupled adenosine receptor activity;G protein-coupled receptor binding;purine nucleoside binding;protein binding;heat shock protein binding;G-protein beta/gamma-subunit complex binding;heterotrimeric G-protein binding;protein heterodimerization activity;neurotransmitter receptor activity involved in regulation of presynaptic cytosolic calcium ion concentration