ADGRD1

adhesion G protein-coupled receptor D1, the group of Adhesion G protein-coupled receptors, subfamily D

Basic information

Region (hg38): 12:130953907-131141469

Previous symbols: [ "GPR133" ]

Links

ENSG00000111452NCBI:283383OMIM:613639HGNC:19893Uniprot:Q6QNK2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADGRD1 gene.

  • not_specified (86 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRD1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198827.5. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
2
clinvar
3
missense
80
clinvar
6
clinvar
86
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 81 8 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ADGRD1protein_codingprotein_codingENST00000261654 25187563
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.50e-140.9901256730751257480.000298
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3265125330.9600.00003255667
Missense in Polyphen128160.220.798881847
Synonymous-0.6582522391.050.00001711739
Loss of Function2.633050.10.5990.00000233560

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005230.000521
Ashkenazi Jewish0.0002000.000198
East Asian0.0007070.000707
Finnish0.00004630.0000462
European (Non-Finnish)0.0003710.000369
Middle Eastern0.0007070.000707
South Asian0.0001970.000196
Other0.0003310.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Orphan receptor. Signals via G(s)-alpha family of G- proteins (PubMed:22025619, PubMed:22575658). Has protumorigenic function especially in glioblastoma (PubMed:27775701). {ECO:0000269|PubMed:22025619, ECO:0000269|PubMed:22575658, ECO:0000269|PubMed:27775701}.;
Pathway
GPCRs, Other (Consensus)

Recessive Scores

pRec
0.0998

Intolerance Scores

loftool
rvis_EVS
-0.23
rvis_percentile_EVS
36.34

Haploinsufficiency Scores

pHI
0.0835
hipred
Y
hipred_score
0.540
ghis
0.522

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Adgrd1
Phenotype
reproductive system phenotype; skeleton phenotype;

Gene ontology

Biological process
cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway
Cellular component
plasma membrane;integral component of plasma membrane;integral component of membrane
Molecular function
G protein-coupled receptor activity