ADGRF1

adhesion G protein-coupled receptor F1, the group of Adhesion G protein-coupled receptors, subfamily F

Basic information

Region (hg38): 6:46997708-47042350

Previous symbols: [ "GPR110" ]

Links

ENSG00000153292 ∙ NCBI:266977 ∙ OMIM:617430 ∙ HGNC:18990 ∙ Uniprot:Q5T601 ∙ 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 ADGRF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRF1 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	7	2	56
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	7	2

Variants in ADGRF1

This is a list of pathogenic ClinVar variants found in the ADGRF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-47005872-C-A		not specified	Uncertain significance (Sep 20, 2023)
6-47008998-C-G		not specified	Uncertain significance (Jun 04, 2024)
6-47009006-G-A		not specified	Uncertain significance (Feb 13, 2024)
6-47009028-T-G			Benign (May 08, 2018)
6-47009075-A-G		not specified	Uncertain significance (Feb 28, 2024)
6-47009096-C-T		not specified	Likely benign (Jul 05, 2023)
6-47009097-G-A		not specified	Uncertain significance (Jun 05, 2023)
6-47009108-T-C		not specified	Uncertain significance (Aug 17, 2022)
6-47009111-C-T		not specified	Uncertain significance (Dec 27, 2022)
6-47009115-C-T		not specified	Uncertain significance (Jun 11, 2024)
6-47009153-A-G		not specified	Uncertain significance (Mar 19, 2024)
6-47009295-A-C		not specified	Uncertain significance (Apr 12, 2024)
6-47009301-T-C		not specified	Uncertain significance (May 14, 2024)
6-47009370-C-G		not specified	Uncertain significance (Dec 08, 2023)
6-47009510-A-G		not specified	Uncertain significance (Aug 17, 2021)
6-47009564-C-A		not specified	Uncertain significance (Apr 06, 2022)
6-47009565-G-A		not specified	Uncertain significance (Apr 07, 2023)
6-47009568-G-A		not specified	Uncertain significance (Dec 15, 2023)
6-47009577-A-T		not specified	Uncertain significance (Nov 27, 2023)
6-47009709-A-T		not specified	Uncertain significance (Oct 14, 2023)
6-47009760-C-T		not specified	Uncertain significance (Dec 13, 2023)
6-47009777-T-C		not specified	Uncertain significance (Jan 23, 2023)
6-47009789-C-T		not specified	Uncertain significance (Apr 12, 2022)
6-47009799-C-T		not specified	Likely benign (May 24, 2023)
6-47009936-T-C		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRF1	protein_coding	protein_coding	ENST00000371253	14	44660

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.00e-22	0.00298	125596	0	152	125748	0.000605

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.319	503	483	1.04	0.0000247	5942
Missense in Polyphen		139	147.57	0.9419		1916
Synonymous	-1.71	222	192	1.16	0.0000104	1808
Loss of Function	0.427	35	37.8	0.925	0.00000175	471

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00139	0.00139
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000929	0.000925
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000619	0.000607
Middle Eastern	0.000929	0.000925
South Asian	0.000861	0.000850
Other	0.000333	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.

Intolerance Scores

• rvis_EVS: 0.7
• rvis_percentile_EVS: 85.3

Haploinsufficiency Scores

• pHI: 0.0653
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgrf1

Gene ontology

• Biological process: cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;synapse assembly;memory;neuron projection development;positive regulation of CREB transcription factor activity
• Cellular component: extracellular region;plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity