ADGRG7

adhesion G protein-coupled receptor G7, the group of Adhesion G protein-coupled receptors, subfamily G

Basic information

Region (hg38): 3:100609601-100695479

Previous symbols: [ "GPR128" ]

Links

ENSG00000144820 ∙ NCBI:84873 ∙ OMIM:612307 ∙ HGNC:19241 ∙ Uniprot:Q96K78 ∙ 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 ADGRG7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRG7 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	2
missense			48	9	2	59
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	49	9	4

Variants in ADGRG7

This is a list of pathogenic ClinVar variants found in the ADGRG7 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-100609889-G-C			Benign (Jun 26, 2018)
3-100609920-G-T		not specified	Uncertain significance (Nov 30, 2021)
3-100629627-A-G		not specified	Uncertain significance (Jun 17, 2024)
3-100629632-G-T		not specified	Uncertain significance (Jun 13, 2024)
3-100630717-A-G		not specified	Uncertain significance (Mar 25, 2024)
3-100630744-T-C		not specified	Uncertain significance (Feb 27, 2024)
3-100630791-G-A		not specified	Uncertain significance (Sep 22, 2022)
3-100630792-G-T		not specified	Uncertain significance (Jun 18, 2024)
3-100633265-C-T		not specified	Uncertain significance (Jul 21, 2022)
3-100633277-T-C		not specified	Uncertain significance (Oct 05, 2023)
3-100633285-C-T		not specified	Uncertain significance (Feb 05, 2024)
3-100633286-G-A		not specified	Uncertain significance (Nov 13, 2023)
3-100633373-A-G		not specified	Uncertain significance (Feb 12, 2024)
3-100635752-A-G		not specified	Uncertain significance (Sep 26, 2023)
3-100635777-C-T		not specified	Uncertain significance (Aug 17, 2021)
3-100637324-C-G		not specified	Uncertain significance (Jun 10, 2024)
3-100637386-G-T		not specified	Uncertain significance (Dec 17, 2023)
3-100643270-A-G		not specified	Uncertain significance (Apr 11, 2023)
3-100643271-T-C		not specified	Uncertain significance (May 30, 2023)
3-100643315-G-C		not specified	Uncertain significance (Oct 12, 2021)
3-100643318-G-C		not specified	Uncertain significance (Aug 09, 2021)
3-100643353-C-A		not specified	Uncertain significance (Jul 20, 2021)
3-100643387-C-T		not specified	Uncertain significance (Jun 21, 2021)
3-100643399-C-A		not specified	Uncertain significance (May 14, 2024)
3-100643519-C-T			Likely benign (Mar 29, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRG7	protein_coding	protein_coding	ENST00000273352	16	85891

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.04e-18	0.0568	125535	1	212	125748	0.000847

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.377	401	423	0.948	0.0000217	5203
Missense in Polyphen		104	121.1	0.85882		1686
Synonymous	-0.832	171	158	1.08	0.00000832	1552
Loss of Function	0.962	30	36.3	0.828	0.00000172	451

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00262	0.00262
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000778	0.000774
Middle Eastern	0.0000544	0.0000544
South Asian	0.00105	0.00101
Other	0.00183	0.00179

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Recessive Scores

• pRec: 0.0655

Intolerance Scores

• rvis_EVS: 0.81
• rvis_percentile_EVS: 87.73

Haploinsufficiency Scores

• pHI: 0.0488
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgrg7
• Phenotype: growth/size/body region phenotype; digestive/alimentary 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: integral component of plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;protein binding