Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Williams-Beuren_syndrome
neurodevelopmental disorders |
| gptkbp:encodes |
TFII-I
|
| gptkbp:Entrez_Gene_ID |
2969
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:fullName |
General Transcription Factor II-I
|
| gptkbp:function |
signal transduction
transcription regulation |
| gptkbp:geneType |
protein-coding
|
| https://www.w3.org/2000/01/rdf-schema#label |
GTF2I
|
| gptkbp:locatedOnChromosome |
7q11.23
|
| gptkbp:mutationAssociatedWith |
gptkb:systemic_lupus_erythematosus
autoimmune diseases thymoma |
| gptkbp:OMIM |
601679
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Gtf2i
|
| gptkbp:UniProtID |
P78347
|
| gptkbp:bfsParent |
gptkb:RARA
|
| gptkbp:bfsLayer |
7
|