Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:KIAA1416
|
| gptkbp:associatedWith |
gptkb:CHARGE_syndrome
|
| gptkbp:biologicalProcess |
regulation of transcription
ATP-dependent DNA helicase activity |
| gptkbp:discoveredIn |
2004
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000171316
55636 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:fullName |
gptkb:chromodomain_helicase_DNA_binding_protein_7
|
| gptkbp:function |
chromatin remodeling
|
| gptkbp:HGNC_ID |
20457
|
| https://www.w3.org/2000/01/rdf-schema#label |
Chd7
|
| gptkbp:length |
38 exons
|
| gptkbp:locatedOnChromosome |
8
|
| gptkbp:mutationAssociatedWith |
developmental disorders
|
| gptkbp:OMIM |
608892
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Chd7
|
| gptkbp:product |
gptkb:CHD7_protein
|
| gptkbp:UniProtID |
gptkb:Q9P2D1
|
| gptkbp:bfsParent |
gptkb:CHD7
|
| gptkbp:bfsLayer |
7
|