Gene Report

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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)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[19208651]	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0030544	Hsp70 protein binding	molecular function	IPI[19208651]	3
GO:0005739	mitochondrion	cellular component	IDA[19208651]	75
GO:0090084	negative regulation of inclusion body assembly	biological process	IMP[19208651]	2
GO:0070628	proteasome binding	molecular function	IPI[19208651]	1
GO:0006457	protein folding	biological process	NAS[10655055]	7
GO:0005737	cytoplasm	cellular component	IDA[19208651]	322
GO:0030425	dendrite	cellular component	TAS[19208651]	65
GO:0070852	cell body fiber	cellular component	TAS[19208651]	3
GO:0051087	chaperone binding	molecular function	IDA[19208651]	10
GO:0030424	axon	cellular component	TAS[19208651]	39

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

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

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SACS	ACTN4	NO	yeast 2-hybrid	16713569
SACS	TSC22D4	NO	yeast 2-hybrid	16713569
SACS	ZNRD1	NO	yeast 2-hybrid	16713569

Related other genetic factors

Gene related SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1409497	chr13:23343142 - 23343142(1)	intron_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs1536365	chr13:23354956 - 23354956(1)	5_prime_UTR_variant; synonymous_variant; upstream_gene_variant
rs2031640	chr13:23355916 - 23355916(1)	5_prime_UTR_variant; missense_variant; upstream_gene_variant
rs2031641	chr13:23356106 - 23356106(1)	intron_variant; upstream_gene_variant
rs10507329	chr13:23357994 - 23357994(1)	intron_variant; upstream_gene_variant
rs4770434	chr13:23344038 - 23344038(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
13p11.1-13q13	chr13:16500000-39500000	1 (0/0/1)
13q12-14	chr13:18900000-54700000	1 (0/1/0)
13q12	chr13:18900000-31600000	2 (0/1/1)
Chr 13	chr13:0-114364328	1 (0/0/1)

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

Gene relationship with SZ

Reference	Description	Result Category
22688191	No significant association was observed in SZ.	Negative

Gene relationship with MDD

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Region: chr13:23328826..23411513 View in gBrowse