ADGRB1
adhesion G protein-coupled receptor B1, the group of Adhesion G protein-coupled receptors, subfamily B
Basic information
Region (hg38): 8:142449430-142545009
Previous symbols: [ "BAI1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (192 variants)
- not_provided (10 variants)
- See_cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRB1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001702.3. 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 | 7 | |||||
| missense | 188 | 193 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 3 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 191 | 6 | 6 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ADGRB1 | protein_coding | protein_coding | ENST00000517894 | 30 | 95580 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 3.14e-8 | 124639 | 0 | 5 | 124644 | 0.0000201 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 4.48 | 515 | 892 | 0.578 | 0.0000610 | 10035 |
| Missense in Polyphen | 70 | 139.14 | 0.5031 | 1439 | ||
| Synonymous | -0.777 | 414 | 394 | 1.05 | 0.0000282 | 3282 |
| Loss of Function | 7.03 | 4 | 65.4 | 0.0612 | 0.00000312 | 785 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000298 | 0.0000298 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000464 | 0.0000464 |
| European (Non-Finnish) | 0.0000278 | 0.0000265 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Phosphatidylserine receptor which enhances the engulfment of apoptotic cells (PubMed:24509909). Also mediates the binding and engulfment of Gram-negative bacteria (PubMed:26838550). Stimulates production of reactive oxygen species by macrophages in response to Gram-negative bacteria, resulting in enhanced microbicidal macrophage activity (PubMed:26838550). In the gastric mucosa, required for recognition and engulfment of apoptotic gastric epithelial cells (PubMed:24509909). Promotes myoblast fusion (By similarity). Activates the Rho pathway in a G-protein-dependent manner (PubMed:23782696). Inhibits MDM2-mediated ubiquitination and degradation of DLG4/PSD95, promoting DLG4 stability and regulating synaptic plasticity (By similarity). Required for the formation of dendritic spines by ensuring the correct localization of PARD3 and TIAM1 (By similarity). Potent inhibitor of angiogenesis in brain and may play a significant role as a mediator of the p53/TP53 signal in suppression of glioblastoma (PubMed:11875720). {ECO:0000250|UniProtKB:C0HL12, ECO:0000250|UniProtKB:Q3UHD1, ECO:0000269|PubMed:11875720, ECO:0000269|PubMed:23782696, ECO:0000269|PubMed:24509909, ECO:0000269|PubMed:26838550}.; FUNCTION: Vasculostatin-40: Inhibits angiogenesis. {ECO:0000269|PubMed:22330140}.;
- Pathway
- p53 signaling pathway - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.196
Haploinsufficiency Scores
- pHI
- 0.120
- hipred
- Y
- hipred_score
- 0.851
- ghis
- 0.669
Mouse Genome Informatics
- Gene name
- Adgrb1
- Phenotype
- homeostasis/metabolism phenotype; hematopoietic system phenotype; immune system phenotype; hearing/vestibular/ear phenotype;
Gene ontology
- Biological process
- phagocytosis, recognition;cell adhesion;signal transduction;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;axonogenesis;peripheral nervous system development;muscle organ development;negative regulation of cell population proliferation;negative regulation of endothelial cell migration;negative regulation of angiogenesis;negative regulation of protein ubiquitination;negative regulation of protein catabolic process;apoptotic cell clearance;engulfment of apoptotic cell;innate immune response;regulation of synaptic plasticity;defense response to Gram-negative bacterium;positive regulation of synapse assembly;positive regulation of myoblast fusion;positive regulation of reactive oxygen species biosynthetic process
- Cellular component
- phagocytic cup;extracellular space;plasma membrane;integral component of plasma membrane;cell-cell junction;focal adhesion;postsynaptic density;integral component of membrane;dendrite;dendritic spine;postsynaptic membrane;perinuclear region of cytoplasm
- Molecular function
- lipopolysaccharide binding;phosphatidylserine binding;G protein-coupled receptor activity;protein binding;PDZ domain binding