ADGRE4P
Basic information
Region (hg38): 19:6954659-6990798
Previous symbols: [ "GPR127", "EMR4", "EMR4P" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADGRE4P 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 | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: May mediate the cellular interaction between myeloid cells and B-cells. {ECO:0000250|UniProtKB:Q91ZE5}.;
Haploinsufficiency Scores
- pHI
- 0.0442
- hipred
- hipred_score
- ghis
Mouse Genome Informatics
- Gene name
- Adgre4
- 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
- extracellular region;integral component of plasma membrane;integral component of membrane
- Molecular function
- G protein-coupled receptor activity;calcium ion binding