ADGRF3

adhesion G protein-coupled receptor F3, the group of Adhesion G protein-coupled receptors, subfamily F

Basic information

Region (hg38): 2:26308173-26346817

Previous symbols: [ "GPR113" ]

Links

ENSG00000173567 ∙ NCBI:165082 ∙ ∙ HGNC:18989 ∙ Uniprot:Q8IZF5 ∙ 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 ADGRF3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRF3 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				1		1
missense			60	7		67
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	60	8	1

Variants in ADGRF3

This is a list of pathogenic ClinVar variants found in the ADGRF3 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-26310050-A-G		not specified	Uncertain significance (Sep 26, 2023)
2-26310074-C-T		not specified	Likely benign (Jun 24, 2022)
2-26310090-G-A		not specified	Uncertain significance (Dec 08, 2021)
2-26310718-T-C		not specified	Uncertain significance (Apr 04, 2024)
2-26310730-C-G		not specified	Uncertain significance (Sep 16, 2022)
2-26310817-C-T		not specified	Uncertain significance (Nov 06, 2023)
2-26310850-G-C		not specified	Uncertain significance (Oct 31, 2023)
2-26310889-C-T		not specified	Uncertain significance (Apr 18, 2024)
2-26310913-C-T		not specified	Uncertain significance (Oct 10, 2023)
2-26310937-C-G		not specified	Uncertain significance (Jul 13, 2022)
2-26310988-C-T		not specified	Uncertain significance (Dec 27, 2023)
2-26311018-G-C		not specified	Uncertain significance (Dec 15, 2022)
2-26311030-C-T			Likely benign (Apr 01, 2023)
2-26311086-C-T		not specified	Uncertain significance (Mar 01, 2024)
2-26311117-G-A		not specified	Uncertain significance (Feb 07, 2023)
2-26311194-G-T		not specified	Uncertain significance (Nov 01, 2021)
2-26311219-G-A			Benign (Sep 01, 2022)
2-26311329-A-G		not specified	Uncertain significance (Nov 08, 2022)
2-26311333-C-T		not specified	Uncertain significance (Dec 14, 2023)
2-26311345-C-A		not specified	Uncertain significance (Sep 26, 2023)
2-26311349-C-G		not specified	Uncertain significance (Nov 17, 2022)
2-26311392-C-T		not specified	Uncertain significance (May 23, 2023)
2-26311425-G-A		not specified	Uncertain significance (Jan 29, 2024)
2-26311446-G-A		not specified	Uncertain significance (Apr 06, 2023)
2-26311550-C-A		not specified	Uncertain significance (Jun 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRF3	protein_coding	protein_coding	ENST00000311519	13	38645

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.19e-22	0.00813	124642	4	947	125593	0.00379

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.636	543	586	0.926	0.0000313	6841
Missense in Polyphen		151	160.91	0.93839		2144
Synonymous	-0.261	266	261	1.02	0.0000149	2353
Loss of Function	0.792	37	42.6	0.869	0.00000221	440

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00432	0.00415
Ashkenazi Jewish	0.00	0.00
East Asian	0.00267	0.00267
Finnish	0.00129	0.00125
European (Non-Finnish)	0.00703	0.00641
Middle Eastern	0.00267	0.00267
South Asian	0.00114	0.00108
Other	0.00397	0.00376

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Recessive Scores

• pRec: 0.0859

Intolerance Scores

• rvis_EVS: 3.57
• rvis_percentile_EVS: 99.52

Haploinsufficiency Scores

• pHI: 0.0620
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgrf3

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway
• Cellular component: integral component of membrane
• Molecular function: G protein-coupled receptor activity