ADCYAP1
adenylate cyclase activating polypeptide 1, the group of Neuropeptides
Basic information
Region (hg38): 18:904871-912172
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 ADCYAP1 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 | 0 | |||||
| missense | 11 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 1 | 0 |
Variants in ADCYAP1
This is a list of pathogenic ClinVar variants found in the ADCYAP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 18-905456-A-C | not specified | Uncertain significance (Jun 29, 2023) | ||
| 18-905472-C-T | not specified | Uncertain significance (Apr 11, 2023) | ||
| 18-907702-G-A | not specified | Uncertain significance (Mar 12, 2024) | ||
| 18-907720-C-A | not specified | Uncertain significance (Aug 12, 2024) | ||
| 18-907724-C-G | not specified | Uncertain significance (Oct 03, 2022) | ||
| 18-907729-G-T | not specified | Uncertain significance (Sep 27, 2024) | ||
| 18-907766-C-T | not specified | Uncertain significance (Dec 13, 2022) | ||
| 18-908299-C-T | not specified | Uncertain significance (Apr 14, 2022) | ||
| 18-908302-A-C | not specified | Uncertain significance (Oct 02, 2023) | ||
| 18-908306-T-C | not specified | Uncertain significance (Oct 25, 2022) | ||
| 18-908342-C-T | not specified | Uncertain significance (Jun 26, 2023) | ||
| 18-909473-C-A | not specified | Likely benign (Nov 09, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ADCYAP1 | protein_coding | protein_coding | ENST00000579794 | 4 | 7230 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.524 | 0.461 | 125726 | 0 | 5 | 125731 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.433 | 112 | 99.8 | 1.12 | 0.00000449 | 1086 |
| Missense in Polyphen | 16 | 31.006 | 0.51602 | 352 | ||
| Synonymous | -2.77 | 70 | 46.1 | 1.52 | 0.00000217 | 362 |
| Loss of Function | 1.96 | 1 | 6.30 | 0.159 | 2.66e-7 | 84 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000187 | 0.000185 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000883 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000329 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Binding to its receptor activates G proteins and stimulates adenylate cyclase in pituitary cells. Promotes neuron projection development through the RAPGEF2/Rap1/B-Raf/ERK pathway. In chromaffin cells, induces long-lasting increase of intracellular calcium concentrations and neuroendocrine secretion (By similarity). Involved in the control of glucose homeostasis, induces insulin secretion by pancreatic beta cells (By similarity). {ECO:0000250|UniProtKB:O70176, ECO:0000250|UniProtKB:P13589, ECO:0000269|PubMed:11175907, ECO:0000269|PubMed:23800469}.;
- Pathway
- Renin secretion - Homo sapiens (human);Insulin secretion - Homo sapiens (human);Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Signaling by GPCR;Activation of TRKA receptors;Signal Transduction;NGF-independant TRKA activation;G alpha (s) signalling events;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;Signaling by NTRK1 (TRKA);Signaling by NTRKs;Signaling by Receptor Tyrosine Kinases;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.311
Intolerance Scores
- loftool
- 0.484
- rvis_EVS
- -0.19
- rvis_percentile_EVS
- 39.68
Haploinsufficiency Scores
- pHI
- 0.247
- hipred
- N
- hipred_score
- 0.441
- ghis
- 0.395
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.574
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Adcyap1
- Phenotype
- muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); hematopoietic system phenotype; growth/size/body region phenotype; reproductive system 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); vision/eye 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); immune system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- adcyap1b
- Affected structure
- forebrain
- Phenotype tag
- abnormal
- Phenotype quality
- deformed
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;positive regulation of cytosolic calcium ion concentration;neuropeptide signaling pathway;cell-cell signaling;female pregnancy;regulation of G protein-coupled receptor signaling pathway;regulation of signaling receptor activity;cAMP-mediated signaling;insulin secretion;neuron projection development;regulation of protein localization;positive regulation of GTPase activity;positive regulation of protein kinase activity;positive regulation of transcription by RNA polymerase II;positive regulation of growth hormone secretion;positive regulation of ERK1 and ERK2 cascade;positive regulation of chemokine (C-C motif) ligand 5 production;positive regulation of cold-induced thermogenesis
- Cellular component
- extracellular region;neuron projection;perikaryon
- Molecular function
- signaling receptor binding;neuropeptide hormone activity;protein binding;pituitary adenylate cyclase activating polypeptide activity;peptide hormone receptor binding