ADGRG4

adhesion G protein-coupled receptor G4, the group of Adhesion G protein-coupled receptors, subfamily G

Basic information

Region (hg38): X:136300963-136416890

Previous symbols: [ "GPR112" ]

Links

ENSG00000156920 ∙ NCBI:139378 ∙ OMIM:301085 ∙ HGNC:18992 ∙ Uniprot:Q8IZF6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• autism spectrum disorder (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADGRG4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRG4 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				9	1	10
missense			125	19		144
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding					1	1
Total	0	0	125	29	2

Variants in ADGRG4

This is a list of pathogenic ClinVar variants found in the ADGRG4 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-136308788-A-G		not specified	Likely benign (Jun 10, 2024)
X-136308838-T-C		not specified	Uncertain significance (Apr 17, 2024)
X-136322789-C-A		not specified	Uncertain significance (Jan 04, 2022)
X-136322837-A-C		ADGRG4-related disorder	Likely benign (Jun 05, 2023)
X-136322847-A-T		not specified	Uncertain significance (Feb 05, 2024)
X-136322961-G-A		not specified	Uncertain significance (Oct 14, 2023)
X-136323038-C-T		not specified	Uncertain significance (Sep 20, 2023)
X-136323051-C-T		not specified	Uncertain significance (Apr 24, 2024)
X-136323174-G-A		not specified	Uncertain significance (Dec 22, 2023)
X-136323266-C-T		not specified	Uncertain significance (Dec 13, 2023)
X-136323290-G-A		not specified	Uncertain significance (Nov 21, 2022)
X-136323341-G-A		not specified	Uncertain significance (Nov 07, 2022)
X-136323368-A-G		not specified	Uncertain significance (Oct 26, 2021)
X-136323387-G-A		not specified	Uncertain significance (Aug 03, 2022)
X-136344382-A-AT		ADGRG4-related disorder	Likely benign (Dec 01, 2022)
X-136344464-C-A		ADGRG4-related disorder	Likely benign (Jul 29, 2021)
X-136344490-A-G		not specified	Uncertain significance (Sep 22, 2023)
X-136344500-A-G		not specified	Uncertain significance (Jun 03, 2022)
X-136344542-C-G		not specified	Uncertain significance (Feb 17, 2024)
X-136344559-T-A		not specified	Uncertain significance (Jun 05, 2024)
X-136344653-A-T		not specified	Uncertain significance (Oct 12, 2021)
X-136344704-T-C		not specified	Uncertain significance (Jul 12, 2023)
X-136344734-C-A		not specified	Uncertain significance (Dec 17, 2023)
X-136344734-C-G		not specified	Uncertain significance (May 10, 2024)
X-136344815-C-T		not specified	Uncertain significance (Mar 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRG4	protein_coding	protein_coding	ENST00000394143	23	136094

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.21e-34	0.0000937	125647	30	64	125741	0.000374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.828	1159	1.08e+3	1.07	0.0000754	19901
Missense in Polyphen		128	144.53	0.88563		3021
Synonymous	-1.66	453	410	1.10	0.0000299	6651
Loss of Function	0.605	55	60.1	0.916	0.00000420	1249

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00102	0.000872
Ashkenazi Jewish	0.00	0.00
East Asian	0.00180	0.00125
Finnish	0.000125	0.0000924
European (Non-Finnish)	0.000609	0.000422
Middle Eastern	0.00180	0.00125
South Asian	0.000190	0.0000980
Other	0.000259	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.21

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.123

Mouse Genome Informatics

• Gene name: Adgrg4

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: integral component of plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity