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

ENSG00000181790 ∙ NCBI:575 ∙ OMIM:602682 ∙ HGNC:943 ∙ Uniprot:O14514 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADGRB1 gene.

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.

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				2	4	6
missense			74		1	75
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					1	1
Total	0	0	75	2	6

Variants in ADGRB1

This is a list of pathogenic ClinVar variants found in the ADGRB1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-142464230-T-G		not specified	Uncertain significance (Sep 16, 2021)
8-142464286-G-C		not specified	Uncertain significance (Aug 28, 2023)
8-142464311-C-T		not specified	Uncertain significance (Jun 24, 2022)
8-142464329-C-A		not specified	Uncertain significance (Feb 02, 2022)
8-142464397-C-T		not specified	Uncertain significance (Jan 24, 2023)
8-142464589-G-A		not specified	Uncertain significance (Jul 22, 2022)
8-142464667-C-T		not specified	Uncertain significance (Jan 23, 2024)
8-142464667-CG-C			Uncertain significance (Jan 12, 2024)
8-142464746-G-T		not specified	Uncertain significance (Jan 27, 2022)
8-142464809-A-C		not specified	Uncertain significance (Mar 15, 2024)
8-142464845-T-C		not specified	Uncertain significance (Nov 07, 2022)
8-142464853-G-A		not specified	Uncertain significance (Jul 07, 2022)
8-142464857-C-T		not specified	Uncertain significance (Mar 01, 2024)
8-142464872-C-T		not specified	Uncertain significance (Sep 27, 2021)
8-142464874-G-A		not specified	Uncertain significance (Dec 28, 2022)
8-142464923-G-C		not specified	Uncertain significance (Jul 05, 2023)
8-142464931-G-A		not specified	Uncertain significance (Mar 21, 2024)
8-142475531-T-G		not specified	Uncertain significance (Apr 11, 2023)
8-142475564-C-G		not specified	Uncertain significance (Mar 29, 2024)
8-142475570-T-C		not specified	Uncertain significance (May 03, 2024)
8-142475579-G-A		not specified	Uncertain significance (Mar 08, 2024)
8-142475632-G-A		not specified	Uncertain significance (Jan 29, 2024)
8-142476594-G-A		not specified	Uncertain significance (Feb 21, 2024)
8-142476635-C-T		not specified	Uncertain significance (Jun 11, 2021)
8-142477399-G-A		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

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: dbNSFP

• 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