ADGRF4

adhesion G protein-coupled receptor F4, the group of Adhesion G protein-coupled receptors, subfamily F

Basic information

Region (hg38): 6:47685864-47722021

Previous symbols: [ "GPR115" ]

Links

ENSG00000153294 ∙ NCBI:221393 ∙ OMIM:614268 ∙ HGNC:19011 ∙ Uniprot:Q8IZF3 ∙ 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 ADGRF4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRF4 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						0
missense			47	1		48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	47	1	0

Variants in ADGRF4

This is a list of pathogenic ClinVar variants found in the ADGRF4 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-47707321-T-A		not specified	Uncertain significance (Sep 16, 2021)
6-47710743-G-A		not specified	Uncertain significance (Jan 22, 2024)
6-47710747-G-A		not specified	Uncertain significance (Jan 04, 2022)
6-47710806-A-G		not specified	Uncertain significance (Oct 06, 2021)
6-47710807-T-C		not specified	Uncertain significance (Feb 17, 2024)
6-47712361-C-T		not specified	Uncertain significance (Nov 18, 2023)
6-47712376-G-A		not specified	Uncertain significance (Feb 10, 2022)
6-47712462-C-T		not specified	Uncertain significance (Dec 26, 2023)
6-47712463-G-A		not specified	Uncertain significance (Feb 26, 2024)
6-47712550-A-G		not specified	Uncertain significance (Dec 03, 2021)
6-47712580-C-A		not specified	Uncertain significance (Jan 03, 2024)
6-47712595-G-A		not specified	Likely benign (Jul 20, 2021)
6-47712599-G-C		not specified	Uncertain significance (Aug 12, 2021)
6-47713802-A-G		not specified	Uncertain significance (Sep 01, 2021)
6-47713818-C-A		not specified	Uncertain significance (Jul 30, 2023)
6-47713849-T-C		not specified	Uncertain significance (May 11, 2022)
6-47713916-A-T		not specified	Uncertain significance (Feb 28, 2023)
6-47713989-C-A		not specified	Uncertain significance (Apr 05, 2023)
6-47714003-A-C		not specified	Uncertain significance (May 22, 2023)
6-47714093-T-C		not specified	Uncertain significance (Oct 13, 2023)
6-47714097-G-T		not specified	Uncertain significance (Feb 22, 2023)
6-47714185-A-G		not specified	Uncertain significance (Sep 27, 2021)
6-47714261-T-C		not specified	Uncertain significance (Oct 16, 2023)
6-47714264-A-G		not specified	Uncertain significance (Dec 06, 2021)
6-47714272-C-T		not specified	Uncertain significance (Aug 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRF4	protein_coding	protein_coding	ENST00000283303	8	36158

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.77e-14	0.0696	125581	0	164	125745	0.000652

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.568	404	373	1.08	0.0000190	4598
Missense in Polyphen		129	128.66	1.0026		1690
Synonymous	-1.18	152	135	1.13	0.00000703	1339
Loss of Function	0.650	23	26.6	0.864	0.00000135	327

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000944	0.000940
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000658	0.000653
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000442	0.000422
Middle Eastern	0.000658	0.000653
South Asian	0.00238	0.00235
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.
• Pathway: Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway (Consensus)

Recessive Scores

• pRec: 0.0924

Intolerance Scores

• rvis_EVS: 1.87
• rvis_percentile_EVS: 97.22

Haploinsufficiency Scores

• pHI: 0.0544
• hipred: N
• hipred_score: 0.146
• ghis: 0.422

Mouse Genome Informatics

• Gene name: Adgrf4

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