ADORA1

adenosine A1 receptor, the group of Adenosine receptors

Basic information

Region (hg38): 1:203090653-203167405

Links

ENSG00000163485 ∙ NCBI:134 ∙ OMIM:102775 ∙ HGNC:262 ∙ Uniprot:P30542 ∙ 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 ADORA1 gene.

• Inborn genetic diseases (9 variants)
• not provided (8 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.

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				3	2	5
missense			9	2		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	9	5	2

Variants in ADORA1

This is a list of pathogenic ClinVar variants found in the ADORA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-203128847-G-A			Benign (Dec 31, 2019)
1-203128854-A-G		not specified	Uncertain significance (Oct 25, 2023)
1-203128958-G-A			Likely benign (May 11, 2017)
1-203128998-G-A		ADORA1-related disorder	Benign/Likely benign (May 02, 2019)
1-203129170-A-G		not specified	Uncertain significance (Jun 02, 2023)
1-203165238-C-T		ADORA1-related disorder	Likely benign (Feb 22, 2019)
1-203165257-C-G			Likely benign (Nov 20, 2018)
1-203165293-C-T			Likely benign (Dec 07, 2019)
1-203165307-G-A		not specified	Uncertain significance (Dec 20, 2022)
1-203165346-A-G		not specified	Uncertain significance (Feb 26, 2024)
1-203165347-T-C		not specified	Uncertain significance (Nov 02, 2021)
1-203165382-G-A		not specified	Uncertain significance (Oct 10, 2023)
1-203165395-A-G		not specified	Uncertain significance (Feb 14, 2023)
1-203165401-G-C		not specified	Uncertain significance (Mar 22, 2023)
1-203165412-C-T		not specified	Uncertain significance (May 18, 2022)
1-203165422-A-C		not specified	Uncertain significance (May 18, 2023)
1-203165432-C-T			Likely benign (Jul 21, 2018)
1-203165504-C-T			Benign (Dec 31, 2019)
1-203165553-A-G		not specified	Uncertain significance (Jan 10, 2022)
1-203165554-A-G		ADORA1-related disorder	Likely benign (May 09, 2023)
1-203165616-G-A		not specified	Uncertain significance (Oct 12, 2022)
1-203165750-G-A			Likely benign (Jun 12, 2018)
1-203165754-G-A			Uncertain significance (Feb 22, 2017)

GnomAD

Source: gnomAD

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: dbNSFP

• 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