ADGRE1

adhesion G protein-coupled receptor E1, the group of Adhesion G protein-coupled receptors, subfamily E

Basic information

Region (hg38): 19:6887566-6940459

Previous symbols: [ "TM7LN3", "EMR1" ]

Links

ENSG00000174837 ∙ NCBI:2015 ∙ OMIM:600493 ∙ HGNC:3336 ∙ Uniprot:Q14246 ∙ 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 ADGRE1 gene.

• not_specified (111 variants)
• not_provided (10 variants)
• ADGRE1-related_disorder (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRE1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001974.5. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	2	4
missense			105	7	4	116
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1		1
Total	0	0	105	10	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRE1	protein_coding	protein_coding	ENST00000312053	21	52894

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.48e-23	0.00884	125541	0	206	125747	0.000819

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.515	452	484	0.934	0.0000249	5862
Missense in Polyphen		134	150.98	0.88755		1987
Synonymous	0.232	185	189	0.979	0.0000108	1660
Loss of Function	0.906	39	45.6	0.855	0.00000223	542

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00223	0.00223
Ashkenazi Jewish	0.00179	0.00159
East Asian	0.000490	0.000489
Finnish	0.0000938	0.0000924
European (Non-Finnish)	0.000358	0.000352
Middle Eastern	0.000490	0.000489
South Asian	0.00258	0.00258
Other	0.00108	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor involved in cell adhesion and probably in cell-cell interactions specifically involving cells of the immune system. May play a role in regulatory T-cells (Treg) development. {ECO:0000250|UniProtKB:Q61549}.
• Pathway: GPCRs, Class B Secretin-like;Signaling by GPCR;Signal Transduction;Class B/2 (Secretin family receptors);GPCR ligand binding (Consensus)

Recessive Scores

• pRec: 0.0904

Intolerance Scores

• rvis_EVS: 2.74
• rvis_percentile_EVS: 98.97

Haploinsufficiency Scores

• pHI: 0.0612
• hipred: N
• hipred_score: 0.123
• ghis: 0.387

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgre1
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: adaptive immune response;cell adhesion;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway
• Cellular component: integral component of plasma membrane;external side of plasma membrane
• Molecular function: G protein-coupled receptor activity;calcium ion binding