EYA1 (EYA transcriptional coactivator and phosphatase 1)

2009-06-01  

Identity

HGNC
EYA1
LOCATION
8q13.3
LOCUSID
2138
ALIAS
BOP,BOR,BOS1,OFC1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2138
MIM: 601653
HGNC: 3519
Ensembl: ENSG00000104313

Variants:

dbSNP: 2138
ClinVar: 2138
TCGA: ENSG00000104313
COSMIC: EYA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104313ENST00000303824A6NCB9
ENSG00000104313ENST00000340726Q99502
ENSG00000104313ENST00000340726A0A024R813
ENSG00000104313ENST00000388740Q99502
ENSG00000104313ENST00000388741E7EQM5
ENSG00000104313ENST00000388742Q99502
ENSG00000104313ENST00000388742A0A024R813
ENSG00000104313ENST00000388743F8WB53
ENSG00000104313ENST00000419131Q99502
ENSG00000104313ENST00000465115E5RIQ7
ENSG00000104313ENST00000493349E5RHZ7
ENSG00000104313ENST00000642391A0A2R8YFS6
ENSG00000104313ENST00000643681A0A2R8Y6K4
ENSG00000104313ENST00000644229A0A2R8YET7
ENSG00000104313ENST00000644712A0A2R8YGM9
ENSG00000104313ENST00000645451A0A2R8YF73
ENSG00000104313ENST00000645793Q99502
ENSG00000104313ENST00000645793A0A024R813
ENSG00000104313ENST00000647540Q99502
ENSG00000104313ENST00000647540A0A024R813

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565

References

Pubmed IDYearTitleCitations
386277752024Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.0
389730452024[Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants].0
386277752024Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.0
389730452024[Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants].0
350001422022The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.0
350464682022Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.4
354469692022[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].0
356989192022A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.1
350001422022The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.0
350464682022Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.4
354469692022[Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene].0
356989192022A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family.1
330983772021Growth 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
339202262021The Eyes Absent Proteins: Unusual HAD Family Tyrosine Phosphatases.9
341603782021A 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)