ADCY7
adenylate cyclase 7, the group of MicroRNA protein coding host genes|Adenylate cyclases
Basic information
Region (hg38): 16:50246137-50318135
Links
Phenotypes
GenCC
Source:
No genCC data.
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 ADCY7 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 | 8 | |||||
| missense | 49 | 54 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 2 | |||||
| Total | 0 | 0 | 49 | 9 | 6 |
Variants in ADCY7
This is a list of pathogenic ClinVar variants found in the ADCY7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 16-50288289-C-T | not specified | Uncertain significance (Jan 17, 2024) | ||
| 16-50288307-C-T | not specified | Likely benign (Apr 07, 2023) | ||
| 16-50288318-G-A | not specified | Uncertain significance (Jan 10, 2022) | ||
| 16-50290458-A-G | not specified | Uncertain significance (Dec 20, 2023) | ||
| 16-50290463-T-C | not specified | Conflicting classifications of pathogenicity (May 23, 2023) | ||
| 16-50290538-G-A | not specified | Uncertain significance (Jul 19, 2022) | ||
| 16-50290540-C-T | Likely benign (Jul 01, 2022) | |||
| 16-50290557-G-A | not specified | Uncertain significance (Aug 08, 2022) | ||
| 16-50290568-G-T | not specified | Uncertain significance (Jan 17, 2024) | ||
| 16-50291794-G-A | not specified | Likely benign (Oct 26, 2021) | ||
| 16-50292692-T-C | not specified | Uncertain significance (Nov 17, 2022) | ||
| 16-50292759-C-A | not specified | Uncertain significance (Jun 17, 2022) | ||
| 16-50292782-G-A | not specified | Uncertain significance (Jul 17, 2023) | ||
| 16-50298894-C-T | Benign (Jul 23, 2018) | |||
| 16-50298947-A-G | not specified | Uncertain significance (Nov 07, 2022) | ||
| 16-50298951-T-G | not specified | Uncertain significance (Jun 09, 2022) | ||
| 16-50298984-C-T | Benign (Dec 27, 2017) | |||
| 16-50298989-G-A | not specified | Uncertain significance (Aug 17, 2022) | ||
| 16-50301086-G-A | not specified | Uncertain significance (Nov 10, 2022) | ||
| 16-50301135-T-C | not specified | Uncertain significance (Apr 06, 2024) | ||
| 16-50301148-C-G | not specified | Uncertain significance (Mar 29, 2023) | ||
| 16-50301181-G-A | not specified | Uncertain significance (Aug 16, 2021) | ||
| 16-50304412-C-T | not specified | Uncertain significance (Jun 29, 2022) | ||
| 16-50304447-C-T | not specified | Uncertain significance (Jul 11, 2023) | ||
| 16-50304456-G-A | not specified | Uncertain significance (Aug 13, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ADCY7 | protein_coding | protein_coding | ENST00000394697 | 25 | 71999 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 9.48e-7 | 1.00 | 125630 | 0 | 118 | 125748 | 0.000469 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.77 | 572 | 705 | 0.812 | 0.0000472 | 6981 |
| Missense in Polyphen | 188 | 306.55 | 0.61327 | 3022 | ||
| Synonymous | -1.48 | 349 | 316 | 1.11 | 0.0000234 | 2217 |
| Loss of Function | 4.17 | 20 | 52.7 | 0.380 | 0.00000250 | 585 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000831 | 0.000831 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000381 | 0.000381 |
| Finnish | 0.000281 | 0.000277 |
| European (Non-Finnish) | 0.000544 | 0.000536 |
| Middle Eastern | 0.000381 | 0.000381 |
| South Asian | 0.000524 | 0.000523 |
| Other | 0.000831 | 0.000815 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the formation of cAMP in response to activation of G protein-coupled receptors (Probable). Functions in signaling cascades activated namely by thrombin and sphingosine 1- phosphate and mediates regulation of cAMP synthesis through synergistic action of the stimulatory G alpha protein with GNA13 (PubMed:23229509, PubMed:18541530). Also, during inflammation, mediates zymosan-induced increase intracellular cAMP, leading to protein kinase A pathway activation in order to modulate innate immune responses through heterotrimeric G proteins G(12/13) (By similarity). Functions in signaling cascades activated namely by dopamine and C5 alpha chain and mediates regulation of cAMP synthesis through synergistic action of the stimulatory G protein with G beta:gamma complex (PubMed:23842570, PubMed:23229509). Functions, through cAMP response regulation, to keep inflammation under control during bacterial infection by sensing the presence of serum factors, such as the bioactive lysophospholipid (LPA) that regulate LPS-induced TNF-alpha production. However, it is also required for the optimal functions of B and T cells during adaptive immune responses by regulating cAMP synthesis in both B and T cells (By similarity). {ECO:0000250|UniProtKB:P51829, ECO:0000269|PubMed:18541530, ECO:0000269|PubMed:23229509, ECO:0000269|PubMed:23842570, ECO:0000305|PubMed:18541530, ECO:0000305|PubMed:23229509}.;
- Pathway
- Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Platelet activation - Homo sapiens (human);Cortisol synthesis and secretion - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Aldosterone synthesis and secretion - Homo sapiens (human);Regulation of lipolysis in adipocytes - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);GABAergic synapse - Homo sapiens (human);Glutamatergic synapse - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Dilated cardiomyopathy (DCM) - Homo sapiens (human);Thyroid hormone synthesis - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Bile secretion - Homo sapiens (human);Gap junction - Homo sapiens (human);Gastric acid secretion - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Salivary secretion - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Morphine addiction - Homo sapiens (human);Ovarian steroidogenesis - Homo sapiens (human);Insulin secretion - Homo sapiens (human);Melanogenesis - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Proton Pump Inhibitor Pathway, Pharmacodynamics;Beta-agonist/Beta-blocker Pathway, Pharmacodynamics;Myometrial Relaxation and Contraction Pathways;G Protein Signaling Pathways;Cannabinoid receptor signaling;Chemokine signaling pathway;Phosphodiesterases in neuronal function;Calcium Regulation in the Cardiac Cell;Signaling by GPCR;Signal Transduction;Glucagon signaling in metabolic regulation;GPCR Adenosine A2A receptor;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Purine metabolism;Metabolism;PKA activation;PKA-mediated phosphorylation of CREB;G alpha (s) signalling events;Calmodulin induced events;CaM pathway;Transport of small molecules;Neuronal System;GPCR signaling-G alpha s Epac and ERK;Hedgehog ,off, state;GPCR signaling-G alpha s PKA and ERK;Signaling by Hedgehog;Purine nucleotides nucleosides metabolism;Adenylate cyclase inhibitory pathway;Inhibition of adenylate cyclase pathway;Activation of GABAB receptors;DAG and IP3 signaling;GABA B receptor activation;Ca-dependent events;PLC beta mediated events;GABA receptor activation;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;Adenylate cyclase activating pathway;G-protein mediated events;Opioid Signalling;G alpha (i) signalling events;G alpha (z) signalling events;PKA activation in glucagon signalling;GPCR signaling-G alpha i;Vasopressin regulates renal water homeostasis via Aquaporins;Aquaporin-mediated transport;Integration of energy metabolism;GPCR downstream signalling;Intracellular signaling by second messengers;LPA4-mediated signaling events;Regulation of nuclear beta catenin signaling and target gene transcription;LPA receptor mediated events;Endothelins
(Consensus)
Recessive Scores
- pRec
- 0.203
Intolerance Scores
- loftool
- 0.0788
- rvis_EVS
- -3.02
- rvis_percentile_EVS
- 0.51
Haploinsufficiency Scores
- pHI
- 0.481
- hipred
- Y
- hipred_score
- 0.706
- ghis
- 0.596
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.711
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Adcy7
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); digestive/alimentary phenotype; immune system phenotype;
Gene ontology
- Biological process
- regulation of adaptive immune response;renal water homeostasis;cAMP biosynthetic process;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;maternal process involved in female pregnancy;cellular response to lithium ion;cellular response to ethanol;cellular response to glucagon stimulus;negative regulation of cytokine production involved in inflammatory response
- Cellular component
- plasma membrane;integral component of plasma membrane;integral component of membrane
- Molecular function
- adenylate cyclase activity;ATP binding;metal ion binding