BDKRB1
bradykinin receptor B1, the group of Bradykinin receptors
Basic information
Region (hg38): 14:96256210-96268967
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (54 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BDKRB1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000710.4. 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 | 0 | |||||
| missense | 50 | 55 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 50 | 5 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BDKRB1 | protein_coding | protein_coding | ENST00000216629 | 1 | 13144 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00469 | 0.888 | 125012 | 4 | 732 | 125748 | 0.00293 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.106 | 215 | 211 | 1.02 | 0.0000128 | 2294 |
| Missense in Polyphen | 65 | 70.586 | 0.92087 | 848 | ||
| Synonymous | 0.485 | 84 | 89.8 | 0.935 | 0.00000505 | 764 |
| Loss of Function | 1.37 | 5 | 9.58 | 0.522 | 5.84e-7 | 75 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00267 | 0.00267 |
| Ashkenazi Jewish | 0.0109 | 0.0108 |
| East Asian | 0.000326 | 0.000326 |
| Finnish | 0.00240 | 0.00241 |
| European (Non-Finnish) | 0.00334 | 0.00334 |
| Middle Eastern | 0.000326 | 0.000326 |
| South Asian | 0.00376 | 0.00373 |
| Other | 0.00212 | 0.00212 |
dbNSFP
Source:
- Function
- FUNCTION: This is a receptor for bradykinin. Could be a factor in chronic pain and inflammation.;
- Pathway
- Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics;Complement and coagulation cascades - Homo sapiens (human);Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);ACE Inhibitor Pathway, Pharmacodynamics;Peptide GPCRs;Vitamin D Receptor Pathway;Dengue-2 Interactions with Complement and Coagulation Cascades;GPCRs, Class A Rhodopsin-like;Regulation of Actin Cytoskeleton;ACE Inhibitor Pathway;Complement and Coagulation Cascades;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.186
Intolerance Scores
- loftool
- 0.768
- rvis_EVS
- -0.04
- rvis_percentile_EVS
- 50.45
Haploinsufficiency Scores
- pHI
- 0.0911
- hipred
- N
- hipred_score
- 0.287
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.798
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bdkrb1
- Phenotype
- immune system 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); normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Gene ontology
- Biological process
- negative regulation of protein phosphorylation;positive regulation of leukocyte migration;inflammatory response;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;protein kinase C-activating G protein-coupled receptor signaling pathway;response to mechanical stimulus;cell migration;sensory perception of pain;negative regulation of cell growth;response to lipopolysaccharide;negative regulation of blood pressure;positive regulation of release of sequestered calcium ion into cytosol
- Cellular component
- endoplasmic reticulum;plasma membrane;integral component of plasma membrane;neuron projection
- Molecular function
- bradykinin receptor activity;protein binding;peptide binding