Identity
HGNC
LOCATION
8q13.3
LOCUSID
ALIAS
BOP,BOR,BOS1,OFC1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2138
MIM: 601653
HGNC: 3519
Ensembl: ENSG00000104313
Variants:
dbSNP: 2138
ClinVar: 2138
TCGA: ENSG00000104313
COSMIC: EYA1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38627775 | 2024 | Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms. | 0 |
| 38973045 | 2024 | [Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants]. | 0 |
| 38627775 | 2024 | Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms. | 0 |
| 38973045 | 2024 | [Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants]. | 0 |
| 35000142 | 2022 | The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia. | 0 |
| 35046468 | 2022 | Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome. | 4 |
| 35446969 | 2022 | [Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene]. | 0 |
| 35698919 | 2022 | A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family. | 1 |
| 35000142 | 2022 | The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia. | 0 |
| 35046468 | 2022 | Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome. | 4 |
| 35446969 | 2022 | [Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene]. | 0 |
| 35698919 | 2022 | A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family. | 1 |
| 33098377 | 2021 | Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. | 1 |
| 33920226 | 2021 | The Eyes Absent Proteins: Unusual HAD Family Tyrosine Phosphatases. | 9 |
| 34160378 | 2021 | A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome. | 5 |
Citation
Dessen P
EYA1 (EYA transcriptional coactivator and phosphatase 1)
Atlas Genet Cytogenet Oncol Haematol. 2009-06-01
Online version: http://atlasgeneticsoncology.org/gene/50940/eya1-(eya-transcriptional-coactivator-and-phosphatase-1)
