Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:BOR
gptkb:EYA_homolog_1 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Branchio-otic_syndrome
gptkb:Branchio-oto-renal_syndrome |
| gptkbp:discoveredBy |
Abdelhak et al.
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
gptkb:EYA1_protein
|
| gptkbp:Entrez_Gene_ID |
2138
|
| gptkbp:expressedIn |
gptkb:kidney
ear branchial arches |
| gptkbp:fullName |
gptkb:eyes_absent_homolog_1
|
| gptkbp:function |
transcriptional coactivator
protein phosphatase activity |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
3494
|
| https://www.w3.org/2000/01/rdf-schema#label |
EYA1 gene
|
| gptkbp:locatedOnChromosome |
chromosome 8
8q13.3 |
| gptkbp:mutationAssociatedWith |
hearing loss
renal anomalies branchial cleft cysts |
| gptkbp:OMIM |
601653
|
| gptkbp:orthologInMouse |
gptkb:Eya1
|
| gptkbp:pathway |
organ development
ear development renal development |
| gptkbp:UniProtID |
Q99502
|
| gptkbp:bfsParent |
gptkb:branchio-oto-renal_syndrome
|
| gptkbp:bfsLayer |
7
|