BDgene

Gene Report

Basic Info
Approved Symbol ATXN1
Previous Symbol SCA1
Symbol Alias D6S504E, ATX1
Approved Name ataxin 1
Previous Name spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)
Location 6p23
Position chr6:16299112-16761491, -1
External Links HGNC: 10548
Entrez Gene: 6310
Ensembl: ENSG00000124788
UCSC: uc010jpi.3
No. of Studies 2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 2)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Johnson, C.,2009 Monte-Carlo Simulation P-value = 0.0009. One of Genes That Harbor Overlapping Clusters of 4 Nominally Positive SNPs Whose Allele Frequencies Distinguish Individuals With Bipolar Disorder From Controls With P<0.05 Nominal Significance From at Least Three of the Four Samples in This Analysis Positive Comment on Study
Fallin, M. D.,2005 23 SNP typed, Median D'=0.12, Median r<sup>2</sup> =0, 14 LD blocks, 0.25 block coverage, there exists SNP or haplotype nominal P-value < 0.01 in SZ/SZA and all SNP or haplotype P-value > 0.05 in BP.. This gene is highly suggestive to SZ/SZA , not suggestive to BP. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 27)

GO terms by PBA (count: 2)

GO terms by database search (count: 25)


Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 149)

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Overlap with SZ from candidate gene intersection analysis (count: 7)


Gene relationship with MDD

View in gBrowse

Region: chr6:16299112..16761491 View in gBrowse
View in gBrowse