BDKRB1
Basic information
Region (hg38): 14:96256210-96268967
Links
Phenotypes
GenCC
Source:
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 BDKRB1 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 | 23 | 26 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 23 | 3 | 0 |
Variants in BDKRB1
This is a list of pathogenic ClinVar variants found in the BDKRB1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-96263693-C-A | not specified | Uncertain significance (Jun 18, 2024) | ||
14-96263710-C-T | not specified | Likely benign (Mar 21, 2024) | ||
14-96263735-T-C | not specified | Uncertain significance (Jun 16, 2024) | ||
14-96263767-G-C | not specified | Uncertain significance (Aug 02, 2023) | ||
14-96263783-A-T | not specified | Uncertain significance (Mar 28, 2023) | ||
14-96263878-C-T | not specified | Uncertain significance (Apr 23, 2024) | ||
14-96263881-C-T | not specified | Uncertain significance (Jul 13, 2022) | ||
14-96263894-T-C | not specified | Uncertain significance (Nov 16, 2021) | ||
14-96263930-A-C | not specified | Uncertain significance (Apr 05, 2023) | ||
14-96264024-C-G | not specified | Uncertain significance (Dec 19, 2022) | ||
14-96264025-G-A | not specified | Uncertain significance (Oct 06, 2023) | ||
14-96264055-A-G | not specified | Uncertain significance (Nov 08, 2022) | ||
14-96264086-G-A | not specified | Uncertain significance (Jun 16, 2024) | ||
14-96264094-G-A | not specified | Uncertain significance (Jan 24, 2023) | ||
14-96264109-A-G | not specified | Uncertain significance (Dec 15, 2022) | ||
14-96264119-G-A | not specified | Uncertain significance (Jun 06, 2022) | ||
14-96264133-C-T | not specified | Uncertain significance (Nov 18, 2023) | ||
14-96264145-C-T | not specified | Uncertain significance (Mar 18, 2024) | ||
14-96264157-G-A | not specified | Uncertain significance (Dec 01, 2022) | ||
14-96264209-G-A | not specified | Uncertain significance (Mar 15, 2024) | ||
14-96264217-C-G | not specified | Uncertain significance (Oct 26, 2022) | ||
14-96264252-C-G | not specified | Uncertain significance (Jun 21, 2023) | ||
14-96264265-C-A | not specified | Uncertain significance (Jun 18, 2021) | ||
14-96264266-A-G | not specified | Uncertain significance (Jan 07, 2022) | ||
14-96264343-T-A | not specified | Uncertain significance (Jan 10, 2022) |
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