Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:ELP1
gptkb:IKAP |
| gptkbp:associatedWith |
gptkb:familial_dysautonomia
|
| gptkbp:discoveredIn |
2000
|
| gptkbp:encodes |
gptkb:elongator_complex_protein_1
|
| gptkbp:Entrez_Gene_ID |
8518
ENSG00000159216 |
| gptkbp:expressedIn |
gptkb:nervous_system
|
| gptkbp:function |
tRNA modification
transcription elongation |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
HGNC:6037
|
| https://www.w3.org/2000/01/rdf-schema#label |
IKBKAP gene
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
9q31 |
| gptkbp:mutationAssociatedWith |
autonomic nervous system dysfunction
splice site mutation |
| gptkbp:OMIM |
603722
|
| gptkbp:orthologInMouse |
gptkb:Ikbkap
|
| gptkbp:pathway |
RNA polymerase II transcription elongation
tRNA wobble uridine modification |
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
Q9NWB6
|
| gptkbp:bfsParent |
gptkb:Familial_dysautonomia
|
| gptkbp:bfsLayer |
5
|