Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Branchio-oto-renal_syndrome
Branchiootic syndrome |
| gptkbp:discoveredBy |
researchers studying branchio-oto-renal syndrome
|
| gptkbp:encodes |
eyes absent homolog 1 protein
|
| gptkbp:Entrez_Gene_ID |
2138
ENSG00000104313 |
| gptkbp:expressedIn |
gptkb:kidney
ear branchial arches |
| gptkbp:function |
gptkb:protein
transcriptional coactivator |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
3517
|
| https://www.w3.org/2000/01/rdf-schema#label |
EYA1
|
| gptkbp:interactsWith |
gptkb:SIX1
gptkb:DACH1 |
| gptkbp:length |
592 amino acids
|
| gptkbp:locatedOnChromosome |
chromosome 8
|
| gptkbp:mutationAssociatedWith |
hearing loss
renal anomalies |
| gptkbp:OMIM |
601653
|
| gptkbp:orthologIn |
Drosophila eya
|
| gptkbp:UniProtID |
Q99502
|
| gptkbp:bfsParent |
gptkb:Eya_gene_family
gptkb:SIX1 |
| gptkbp:bfsLayer |
8
|