CRHR1
corticotropin releasing hormone receptor 1, the group of Corticotropin releasing hormone receptors
Basic information
Region (hg38): 17:45784277-45835828
Previous symbols: [ "CRHR" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (49 variants)
- not_provided (6 variants)
- CRHR1-related_disorder (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRHR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004382.5. 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 | 4 | |||||
| missense | 44 | 50 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 44 | 6 | 4 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CRHR1 | protein_coding | protein_coding | ENST00000398285 | 14 | 213928 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000379 | 0.998 | 125188 | 0 | 70 | 125258 | 0.000279 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.73 | 196 | 277 | 0.708 | 0.0000173 | 2889 |
| Missense in Polyphen | 29 | 70.499 | 0.41135 | 759 | ||
| Synonymous | 0.763 | 101 | 111 | 0.908 | 0.00000690 | 873 |
| Loss of Function | 2.71 | 12 | 27.2 | 0.440 | 0.00000131 | 283 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000646 | 0.000642 |
| Ashkenazi Jewish | 0.000252 | 0.000199 |
| East Asian | 0.000289 | 0.000277 |
| Finnish | 0.000884 | 0.000835 |
| European (Non-Finnish) | 0.000157 | 0.000150 |
| Middle Eastern | 0.000289 | 0.000277 |
| South Asian | 0.000280 | 0.000261 |
| Other | 0.000787 | 0.000656 |
dbNSFP
Source:
- Function
- FUNCTION: G-protein coupled receptor for CRH (corticotropin- releasing factor) and UCN (urocortin). Has high affinity for CRH and UCN. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and down-stream effectors, such as adenylate cyclase. Promotes the activation of adenylate cyclase, leading to increased intracellular cAMP levels. Inhibits the activity of the calcium channel CACNA1H. Required for normal embryonic development of the adrenal gland and for normal hormonal responses to stress. Plays a role in the response to anxiogenic stimuli. {ECO:0000269|PubMed:18292205, ECO:0000269|PubMed:18801728, ECO:0000269|PubMed:23576434, ECO:0000269|PubMed:23863939}.;
- Pathway
- Cushing,s syndrome - Homo sapiens (human);Long-term depression - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Glucocorticoid Pathway (HPA Axis), Pharmacodynamics;Corticotropin-releasing hormone signaling pathway;Myometrial Relaxation and Contraction Pathways;GPCRs, Class B Secretin-like;Serotonin and anxiety-related events;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;CRH;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.389
Intolerance Scores
- loftool
- 0.701
- rvis_EVS
- -0.09
- rvis_percentile_EVS
- 46.92
Haploinsufficiency Scores
- pHI
- 0.208
- hipred
- Y
- hipred_score
- 0.837
- ghis
- 0.612
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.719
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Crhr1
- Phenotype
- endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system 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); normal phenotype; 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);
Gene ontology
- Biological process
- immune response;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;female pregnancy;parturition;hormone-mediated signaling pathway;regulation of adenylate cyclase activity involved in G protein-coupled receptor signaling pathway;corticotropin secretion;cellular response to corticotropin-releasing hormone stimulus;negative regulation of voltage-gated calcium channel activity;regulation of corticosterone secretion
- Cellular component
- endosome;plasma membrane;integral component of plasma membrane;integral component of membrane;intrinsic component of plasma membrane
- Molecular function
- protein binding;corticotrophin-releasing factor receptor activity;peptide hormone binding;corticotropin-releasing hormone receptor activity;corticotropin-releasing hormone binding