ADCYAP1R1

ADCYAP receptor type I, the group of Vasoactive intestinal peptide family receptors

Basic information

Region (hg38): 7:31052308-31111474

Links

ENSG00000078549

∙ NCBI:117 ∙ OMIM:102981 ∙ HGNC:242 ∙ Uniprot:P41586 ∙ 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 ADCYAP1R1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADCYAP1R1 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					1 clinvar	1
missense			20 clinvar			20
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	20	0	1

Variants in ADCYAP1R1

This is a list of pathogenic ClinVar variants found in the ADCYAP1R1 region.

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

Position	Phenotype	Significance	ClinVar
7-31064825-C-T		Benign (Aug 21, 2018)	783492
7-31064922-A-G	not specified	Uncertain significance (Apr 05, 2023)	2518429
7-31078003-T-C	not specified	Uncertain significance (Apr 09, 2024)	3269849
7-31078019-G-A		Benign (Aug 21, 2018)	768144
7-31084183-C-T	not specified	Uncertain significance (Apr 18, 2023)	2538091
7-31084818-A-G	not specified	Uncertain significance (Dec 11, 2023)	3082627
7-31084827-C-T	not specified	Uncertain significance (Mar 31, 2022)	2211571
7-31084831-T-G	not specified	Uncertain significance (Sep 29, 2023)	3082635
7-31085323-A-C	not specified	Uncertain significance (Nov 10, 2022)	2379953
7-31085329-A-G	not specified	Uncertain significance (Jun 06, 2023)	2558171
7-31085414-A-G	not specified	Uncertain significance (Dec 27, 2023)	3082644
7-31086976-C-T	not specified	Uncertain significance (Nov 17, 2023)	3082646
7-31087637-A-T	not specified	Uncertain significance (Mar 16, 2022)	2386245
7-31092674-G-T	not specified	Uncertain significance (Jul 05, 2023)	2609690
7-31092707-A-G	not specified	Uncertain significance (Nov 08, 2022)	3082594
7-31092719-G-A	not specified	Uncertain significance (Jan 26, 2023)	2479535
7-31100161-C-T	not specified	Uncertain significance (Dec 05, 2022)	3082602
7-31103248-G-A	not specified	Uncertain significance (Nov 17, 2023)	3082607
7-31106569-G-A	not specified	Uncertain significance (Jan 18, 2023)	2463670
7-31106571-C-T	not specified	Uncertain significance (Feb 14, 2024)	3082612
7-31106573-C-A	not specified	Uncertain significance (Apr 07, 2023)	2518271
7-31106574-C-G	not specified	Uncertain significance (Apr 07, 2023)	2518272
7-31106580-C-G	not specified	Uncertain significance (Nov 17, 2023)	3082618

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADCYAP1R1	protein_coding	protein_coding	ENST00000396211	16	59014

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.23e-10	0.969	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.39	219	285	0.768	0.0000158	3270
Missense in Polyphen		85	112.01	0.75888		1273
Synonymous	-0.134	112	110	1.02	0.00000638	921
Loss of Function	2.17	20	33.5	0.596	0.00000186	343

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000306	0.000304
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000279	0.000277
European (Non-Finnish)	0.000125	0.000123
Middle Eastern	0.000109	0.000109
South Asian	0.000101	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: This is a receptor for PACAP-27 and PACAP-38. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. May regulate the release of adrenocorticotropin, luteinizing hormone, growth hormone, prolactin, epinephrine, and catecholamine. May play a role in spermatogenesis and sperm motility. Causes smooth muscle relaxation and secretion in the gastrointestinal tract.;
Pathway: Circadian entrainment - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Renin secretion - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Insulin secretion - Homo sapiens (human);GPCRs, Class B Secretin-like;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: 0.119

Intolerance Scores

loftool: 0.593
rvis_EVS: -0.16
rvis_percentile_EVS: 41.91

Haploinsufficiency Scores

pHI: 0.130
hipred: Y
hipred_score: 0.650
ghis: 0.558

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.391

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Adcyap1r1
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); 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); immune system phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype;

Zebrafish Information Network

Gene name: adcyap1r1b
Affected structure: hypothalamus
Phenotype tag: abnormal
Phenotype quality: has fewer parts of type

Gene ontology

Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;activation of phospholipase C activity;spermatogenesis;positive regulation of calcium ion transport into cytosol;cAMP-mediated signaling;cell differentiation;response to estradiol;multicellular organismal response to stress;positive regulation of cAMP-mediated signaling;response to ethanol;development of primary female sexual characteristics;positive regulation of small GTPase mediated signal transduction;negative regulation of cell death;positive regulation of inositol phosphate biosynthetic process
Cellular component: endosome;rough endoplasmic reticulum;plasma membrane;integral component of plasma membrane;caveola;bicellular tight junction;cell surface;neuron projection;intracellular membrane-bounded organelle;receptor complex
Molecular function: vasoactive intestinal polypeptide receptor activity;protein binding;adenylate cyclase binding;G protein-coupled peptide receptor activity;peptide hormone binding;ADP-ribosylation factor binding;signaling receptor activity;neuropeptide binding