EDNRA
Basic information
Region (hg38): 4:147480917-147544954
Links
Phenotypes
GenCC
Source:
- mandibulofacial dysostosis with alopecia (Supportive), mode of inheritance: AD
- mandibulofacial dysostosis with alopecia (Strong), mode of inheritance: AD
- cystic fibrosis (Supportive), mode of inheritance: AR
- mandibulofacial dysostosis with alopecia (Definitive), mode of inheritance: AD
- mandibulofacial dysostosis with alopecia (Moderate), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Mandibulofacial dysostosis with alopecia | AD | Audiologic/Otolaryngologic | Among other features, early recognition and treatment of hearing impairment may improve outcomes, including speech and language development | Audiologic/Otolaryngologic; Craniofacial; Dental; Dermatologic; Ophthalmologic | 16116593; 20583178; 25772936 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (71 variants)
- Inborn_genetic_diseases (26 variants)
- Mandibulofacial_dysostosis_with_alopecia (10 variants)
- Migraine_with_or_without_aura,_susceptibility_to,_1 (7 variants)
- not_specified (4 variants)
- EDNRA-related_disorder (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the EDNRA gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001957.4. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 22 | 24 | ||||
missense | 56 | 61 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 2 | 0 | 57 | 23 | 3 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EDNRA | protein_coding | protein_coding | ENST00000324300 | 7 | 64038 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.992 | 0.00842 | 125742 | 0 | 4 | 125746 | 0.0000159 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.80 | 120 | 243 | 0.494 | 0.0000129 | 2864 |
Missense in Polyphen | 31 | 107.35 | 0.28877 | 1272 | ||
Synonymous | 0.617 | 80 | 87.3 | 0.916 | 0.00000507 | 786 |
Loss of Function | 3.79 | 1 | 18.7 | 0.0534 | 9.46e-7 | 216 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000177 | 0.0000176 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000653 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.;
- Pathway
- Calcium signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Renin secretion - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);GPCRs, Other;Endothelin Pathways;Peptide GPCRs;miR-509-3p alteration of YAP1-ECM axis;GPCRs, Class A Rhodopsin-like;Prostaglandin Synthesis and Regulation;Signaling by GPCR;Signal Transduction;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;ion channels and their functional role in vascular endothelium;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);roles of arrestin dependent recruitment of src kinases in gpcr signaling;GPCR ligand binding;-arrestins in gpcr desensitization;EGFR-dependent Endothelin signaling events;G alpha (q) signalling events;GPCR downstream signalling;Endothelins
(Consensus)
Recessive Scores
- pRec
- 0.415
Intolerance Scores
- loftool
- 0.147
- rvis_EVS
- -0.38
- rvis_percentile_EVS
- 27.42
Haploinsufficiency Scores
- pHI
- 0.370
- hipred
- Y
- hipred_score
- 0.800
- ghis
- 0.646
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.716
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ednra
- Phenotype
- growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; muscle phenotype; craniofacial phenotype; homeostasis/metabolism phenotype; cellular phenotype; skeleton phenotype; renal/urinary system phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); normal phenotype; digestive/alimentary phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; immune system phenotype;
Zebrafish Information Network
- Gene name
- ednrab
- Affected structure
- pharyngeal arch 1
- Phenotype tag
- abnormal
- Phenotype quality
- decreased length
Gene ontology
- Biological process
- branching involved in blood vessel morphogenesis;response to hypoxia;in utero embryonic development;smooth muscle contraction;signal transduction;G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;activation of phospholipase C activity;positive regulation of cytosolic calcium ion concentration;heart development;respiratory gaseous exchange;regulation of blood pressure;cell population proliferation;regulation of glucose transmembrane transport;neural crest cell development;artery smooth muscle contraction;vasoconstriction;enteric nervous system development;head development;endothelin receptor signaling pathway
- Cellular component
- plasma membrane;integral component of plasma membrane
- Molecular function
- phosphatidylinositol phospholipase C activity;endothelin receptor activity;protein binding