CRHR2
Basic information
Region (hg38): 7:30651942-30700129
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (64 variants)
- not_provided (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRHR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001883.5. 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 | 1 | |||||
missense | 61 | 66 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 62 | 4 | 1 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CRHR2 | protein_coding | protein_coding | ENST00000348438 | 13 | 47546 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
8.55e-17 | 0.0169 | 125346 | 1 | 401 | 125748 | 0.00160 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.749 | 229 | 263 | 0.870 | 0.0000161 | 2832 |
Missense in Polyphen | 112 | 118.92 | 0.94183 | 1304 | ||
Synonymous | 1.35 | 90 | 108 | 0.835 | 0.00000684 | 830 |
Loss of Function | 0.381 | 26 | 28.2 | 0.923 | 0.00000142 | 295 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00181 | 0.00181 |
Ashkenazi Jewish | 0.000102 | 0.0000992 |
East Asian | 0.000163 | 0.000163 |
Finnish | 0.00458 | 0.00444 |
European (Non-Finnish) | 0.00224 | 0.00219 |
Middle Eastern | 0.000163 | 0.000163 |
South Asian | 0.000164 | 0.000163 |
Other | 0.00131 | 0.00130 |
dbNSFP
Source:
- Function
- FUNCTION: G-protein coupled receptor for CRH (corticotropin- releasing factor), UCN (urocortin), UCN2 and UCN3. Has high affinity for 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.;
- Pathway
- Cushing,s syndrome - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Glucocorticoid Pathway (HPA Axis), Pharmacodynamics;Corticotropin-releasing hormone signaling pathway;GPCRs, Class B Secretin-like;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
- 0.154
Intolerance Scores
- loftool
- 0.865
- rvis_EVS
- 0.69
- rvis_percentile_EVS
- 85.18
Haploinsufficiency Scores
- pHI
- 0.0680
- hipred
- N
- hipred_score
- 0.457
- ghis
- 0.421
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.631
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Crhr2
- Phenotype
- 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;hormone-mediated signaling pathway;long-term synaptic potentiation;cellular response to corticotropin-releasing hormone stimulus
- Cellular component
- plasma membrane;integral component of plasma membrane;axon;dendrite;axon terminus
- Molecular function
- protein binding;corticotrophin-releasing factor receptor activity;peptide hormone binding;corticotropin-releasing hormone receptor activity