Gene Report

Basic Info
Approved Symbol SACS
Symbol Alias ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138
Approved Name sacsin molecular chaperone
Previous Name spastic ataxia of Charlevoix-Saguenay (sacsin)
Name Alias protein phosphatase 1, regulatory subunit 138
Location 13q11
Position chr13:23328826-23411513, -1
External Links HGNC: 10519
Entrez Gene: 26278
Ensembl: ENSG00000151835
UCSC: uc001uon.3
No. of Studies 1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 1)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Bergen, S. E.,2012 SNP: rs1409497 No significant association was observed in BD. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 11)

GO terms by PBA (count: 1)

GO terms by database search (count: 10)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Related other genetic factors
Gene related SNPs (count: 6)

Literature-origin SNPs (count: 1)

LD-proxies (count: 5)

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: 0)

Gene relationship with MDD

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Region: chr13:23328826..23411513 View in gBrowse
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