Statements (33)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
ataxin-10
|
gptkbp:alternativeTo |
SCA10
|
gptkbp:associatedWith |
spinocerebellar ataxia type 10
|
gptkbp:chromosomeArm |
q
|
gptkbp:discoveredIn |
1999
|
gptkbp:Entrez_Gene_ID |
25814
ENSG00000148840 |
gptkbp:expressedIn |
gptkb:kidney
brain heart pancreas |
gptkbp:fullName |
ataxin 10
|
gptkbp:function |
unknown
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:10556
|
https://www.w3.org/2000/01/rdf-schema#label |
ATXN10
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:locatedOnChromosome |
22
22q13.31 |
gptkbp:location_(genomic_coordinates,_GRCh38) |
chr22: 42,073,849-42,120,222
|
gptkbp:mutationAssociatedWith |
pentanucleotide repeat expansion
|
gptkbp:OMIM |
601150
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Atxn10
|
gptkbp:orthologInZebrafish |
atxn10
|
gptkbp:pathway |
cell signaling
cell adhesion |
gptkbp:product |
ataxin-10
|
gptkbp:UniProtID |
Q9UBB4
|
gptkbp:bfsParent |
gptkb:22q12.1_(human)
gptkb:ATA_gene |
gptkbp:bfsLayer |
8
|