Property Summary

NCBI Gene PubMed Count 67
Grant Count 107
R01 Count 84
Funding $12,011,308.05
PubMed Score 108.42
PubTator Score 109.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
astrocytic glioma 2.100 0.013
oligodendroglioma 2.000 0.009
adult high grade glioma 1.600 0.008
sonic hedgehog group medulloblastoma 3.500 0.000
lung carcinoma -1.100 0.001

Synonym

Accession Q99502 A6NHQ0 G5E9R4 Q0P516 Q8WX80
Symbols BOP
BOR
BOS1
OFC1

Gene

Gene RIF (35)

PMID Text
25926005 Our findings implicate this EYA1 partial duplication segregating with branchiootic phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the Branchiootorenal syndrome/BO syndrom
25780253 we proved that the branchiooto (BO) syndrome in these cases was caused by germinal mosaicism of the EYA1 gene in either the mother or father.
25640282 Association between EYA1 three SNPs and NSOCs and suggested that maternal environmental tobacco smoke, common cold history, and alcohol consumption.
24954506 PI3K/Akt signaling enhances Eya1 transcription activity, which largely attributes to the phosphorylation-induced reduction of Eya1 SUMOylation.
24730701 Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown.[review]
24729159 Low EYA1 expression is associated with gastric carcinoma.
23840632 Novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population.
23636126 The EYA1 phosphatase regulates cell-cycle control via transcriptional complex formation at the cyclin D1 promoter.
23601008 results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and nonsyndromic orofacial clefts.
23506628 A novel EYA1 splice site mutation was found to be associated with Branchio-Oto-Renal Syndrome and focal glomerulosclerosis.
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AA Sequence

MEMQDLTSPHSRLSGSSESPSGPKLGNSHINSNSMTPNGTEVKTEPMSSSETASTTADGSLNNFSGSAIG      1 - 70
SSSFSPRPTHQFSPPQIYPSNRPYPHILPTPSSQTMAAYGQTQFTTGMQQATAYATYPQPGQPYGISSYG     71 - 140
ALWAGIKTEGGLSQSQSPGQTGFLSYGTSFSTPQPGQAPYSYQMQGSSFTTSSGIYTGNNSLTNSSGFNS    141 - 210
SQQDYPSYPSFGQGQYAQYYNSSPYPAHYMTSSNTSPTTPSTNATYQLQEPPSGITSQAVTDPTAEYSTI    211 - 280
HSPSTPIKDSDSDRLRRGSDGKSRGRGRRNNNPSPPPDSDLERVFIWDLDETIIVFHSLLTGSYANRYGR    281 - 350
DPPTSVSLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYNFGTDGFPAAATSANLCL    351 - 420
ATGVRGGVDWMRKLAFRYRRVKEIYNTYKNNVGGLLGPAKREAWLQLRAEIEALTDSWLTLALKALSLIH    421 - 490
SRTNCVNILVTTTQLIPALAKVLLYGLGIVFPIENIYSATKIGKESCFERIIQRFGRKVVYVVIGDGVEE    491 - 560
EQGAKKHAMPFWRISSHSDLMALHHALELEYL                                          561 - 592
//

Text Mined References (68)

PMID Year Title
25926005 2015 Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.
25780253 2015 Germinal mosaicism in a family with BO syndrome.
25640282 2015 Evaluation of the association of polymorphisms in EYA1, environmental factors, and non-syndromic orofacial clefts in Western Han Chinese.
25108383 2014 Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
24954506 2015 The PI3K/Akt signal hyperactivates Eya1 via the SUMOylation pathway.
24730701 2014 Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.
24729159 2014 EYA1 expression in gastric carcinoma and its association with clinicopathological characteristics: a pilot study.
24688116 2014 Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
23840632 2013 Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.
23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.
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