ADGRE5

adhesion G protein-coupled receptor E5, the group of CD molecules|Adhesion G protein-coupled receptors, subfamily E

Basic information

Region (hg38): 19:14380500-14408725

Previous symbols: [ "CD97" ]

Links

ENSG00000123146 ∙ NCBI:976 ∙ OMIM:601211 ∙ HGNC:1711 ∙ Uniprot:P48960 ∙ 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 ADGRE5 gene.

• Inborn genetic diseases (48 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRE5 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	4
missense			44	5		49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	44	7	3

Variants in ADGRE5

This is a list of pathogenic ClinVar variants found in the ADGRE5 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-14388489-A-G		not specified	Uncertain significance (Aug 19, 2021)
19-14388719-C-T		not specified	Uncertain significance (Dec 12, 2023)
19-14388732-C-T		not specified	Uncertain significance (Dec 18, 2023)
19-14390945-C-T		not specified	Uncertain significance (Dec 27, 2023)
19-14391001-G-A		not specified	Uncertain significance (Jan 30, 2024)
19-14396350-G-A		not specified	Uncertain significance (Jan 26, 2023)
19-14396386-G-A		not specified	Likely benign (Nov 08, 2022)
19-14397101-A-C		not specified	Uncertain significance (May 26, 2022)
19-14397107-C-T		not specified	Uncertain significance (Jul 12, 2023)
19-14397139-G-C		not specified	Uncertain significance (Oct 03, 2022)
19-14397167-C-T		not specified	Uncertain significance (Feb 27, 2023)
19-14397214-G-A		not specified	Likely benign (Sep 16, 2021)
19-14397675-T-A		not specified	Uncertain significance (Jul 30, 2023)
19-14397699-T-A		not specified	Uncertain significance (Oct 06, 2021)
19-14397738-C-T		not specified	Uncertain significance (Mar 01, 2024)
19-14397745-G-A		not specified	Uncertain significance (Dec 16, 2022)
19-14397914-G-A			Likely benign (Jun 01, 2022)
19-14397922-G-C		not specified	Uncertain significance (May 23, 2023)
19-14398095-C-G		not specified	Uncertain significance (Nov 28, 2023)
19-14398108-C-A		not specified	Uncertain significance (Sep 20, 2023)
19-14401456-G-A		not specified	Uncertain significance (Mar 29, 2022)
19-14401464-A-T		not specified	Uncertain significance (Jan 22, 2024)
19-14401510-T-G		not specified	Uncertain significance (Sep 19, 2022)
19-14401531-G-A		not specified	Uncertain significance (Oct 03, 2022)
19-14401534-C-T		not specified	Uncertain significance (Sep 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADGRE5	protein_coding	protein_coding	ENST00000242786	20	28225

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000308	1.00	125695	0	53	125748	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.805	451	502	0.899	0.0000306	5424
Missense in Polyphen		128	168.87	0.75797		1968
Synonymous	-0.466	229	220	1.04	0.0000154	1635
Loss of Function	3.63	17	42.6	0.399	0.00000191	491

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000489	0.000489
Ashkenazi Jewish	0.000300	0.000298
East Asian	0.000115	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000253	0.000246
Middle Eastern	0.000115	0.000109
South Asian	0.000363	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor potentially involved in both adhesion and signaling processes early after leukocyte activation. Plays an essential role in leukocyte migration (By similarity). {ECO:0000250}.
• Pathway: Vitamin D Receptor Pathway;GPCRs, Class B Secretin-like;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;Innate Immune System;Immune System;Class B/2 (Secretin family receptors);GPCR ligand binding (Consensus)

Recessive Scores

• pRec: 0.137

Intolerance Scores

• rvis_EVS: -1.1
• rvis_percentile_EVS: 6.93

Haploinsufficiency Scores

• pHI: 0.133
• hipred: N
• hipred_score: 0.356
• ghis: 0.544

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Adgre5
• Phenotype: normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; immune system phenotype