ADGRL4

adhesion G protein-coupled receptor L4, the group of Adhesion G protein-coupled receptors, subfamily L

Basic information

Region (hg38): 1:78889764-79282124

Previous symbols: [ "ELTD1" ]

Links

ENSG00000162618 ∙ NCBI:64123 ∙ OMIM:616419 ∙ HGNC:20822 ∙ Uniprot:Q9HBW9 ∙ 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 ADGRL4 gene.

• not_specified (88 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRL4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022159.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			86	1		87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	86	3	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRL4	protein_coding	protein_coding	ENST00000370742	15	116955

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.78e-11	0.696	124710	1	82	124793	0.000333

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0329	343	345	0.995	0.0000163	4527
Missense in Polyphen		133	146.8	0.90602		1995
Synonymous	-1.09	138	123	1.12	0.00000612	1269
Loss of Function	1.54	21	30.1	0.697	0.00000133	443

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000348	0.000342
Ashkenazi Jewish	0.00	0.00
East Asian	0.000303	0.000278
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000333	0.000327
Middle Eastern	0.000303	0.000278
South Asian	0.00103	0.000981
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endothelial orphan receptor that acts as a key regulator of angiogenesis. {ECO:0000269|PubMed:23871637}.
• Pathway: GPCRs, Class B Secretin-like (Consensus)

Recessive Scores

• pRec: 0.237

Intolerance Scores

• rvis_EVS: 1
• rvis_percentile_EVS: 90.69

Haploinsufficiency Scores

• pHI: 0.282
• hipred: N
• hipred_score: 0.394
• ghis: 0.486

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgrl4
• Phenotype: normal 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: plasma membrane;integral component of plasma membrane;integral component of membrane;cytoplasmic vesicle
• Molecular function: G protein-coupled receptor activity;calcium ion binding;protein dimerization activity