ADGRA1

adhesion G protein-coupled receptor A1, the group of Adhesion G protein-coupled receptors, subfamily A

Basic information

Region (hg38): 10:133087924-133131675

Previous symbols: [ "GPR123" ]

Links

ENSG00000197177 ∙ NCBI:84435 ∙ OMIM:612302 ∙ HGNC:13838 ∙ Uniprot:Q86SQ6 ∙ 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 ADGRA1 gene.

• not_specified (103 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRA1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001083909.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			99	4	1	104
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	99	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRA1	protein_coding	protein_coding	ENST00000392607	6	60747

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0137	0.980	125715	0	7	125722	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.34	292	364	0.803	0.0000256	3530
Missense in Polyphen		68	116.59	0.58326		1191
Synonymous	0.690	161	173	0.933	0.0000136	1183
Loss of Function	2.41	6	16.6	0.362	7.12e-7	188

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.000101	0.0000993
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000499	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.77

Haploinsufficiency Scores

• pHI: 0.122
• hipred: Y
• hipred_score: 0.837
• ghis: 0.531

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgra1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: signal transduction;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway
• Cellular component: postsynaptic density;integral component of membrane;glutamatergic synapse
• Molecular function: G protein-coupled receptor activity