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SACS (sacsin molecular chaperone)

Identity

Other namesARSACS
DNAJC29
PPP1R138
SPAX6
HGNC (Hugo) SACS
LocusID (NCBI) 26278
Atlas_Id 47398
Location 13q12.12  [Link to chromosome band 13q12]
Location_base_pair Starts at 23902962 and ends at 23949682 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COL1A2 (7q21.3) / SACS (13q12.12)SACS (13q12.12) / MIPEP (13q12.12)SACS (13q12.12) / PHF3 (6q12)
SACS 13q12.12 / MIPEP 13q12.12SACS 13q12.12 / PHF3 6q12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SACS   10519
Cards
Entrez_Gene (NCBI)SACS  26278  sacsin molecular chaperone
AliasesARSACS; DNAJC29; PPP1R138; SPAX6
GeneCards (Weizmann)SACS
Ensembl hg19 (Hinxton)ENSG00000151835 [Gene_View]  chr13:23902962-23949682 [Contig_View]  SACS [Vega]
Ensembl hg38 (Hinxton)ENSG00000151835 [Gene_View]  chr13:23902962-23949682 [Contig_View]  SACS [Vega]
ICGC DataPortalENSG00000151835
TCGA cBioPortalSACS
AceView (NCBI)SACS
Genatlas (Paris)SACS
WikiGenes26278
SOURCE (Princeton)SACS
Genomic and cartography
GoldenPath hg19 (UCSC)SACS  -     chr13:23902962-23949682 -  13q12.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SACS  -     13q12.12   [Description]    (hg38-Dec_2013)
EnsemblSACS - 13q12.12 [CytoView hg19]  SACS - 13q12.12 [CytoView hg38]
Mapping of homologs : NCBISACS [Mapview hg19]  SACS [Mapview hg38]
OMIM270550   604490   
Gene and transcription
Genbank (Entrez)AB018273 AK024708 AK090599 AK125458 AW295072
RefSeq transcript (Entrez)NM_001278055 NM_014363
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_012342 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)SACS
Cluster EST : UnigeneHs.159492 [ NCBI ]
CGAP (NCI)Hs.159492
Alternative Splicing GalleryENSG00000151835
Gene ExpressionSACS [ NCBI-GEO ]   SACS [ EBI - ARRAY_EXPRESS ]   SACS [ SEEK ]   SACS [ MEM ]
Gene Expression Viewer (FireBrowse)SACS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26278
GTEX Portal (Tissue expression)SACS
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZJ4 (Uniprot)
NextProtQ9NZJ4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZJ4
Splice isoforms : SwissVarQ9NZJ4 (Swissvar)
PhosPhoSitePlusQ9NZJ4
Domaine pattern : Prosite (Expaxy)DNAJ_2 (PS50076)    HEPN (PS50910)    UBIQUITIN_2 (PS50053)   
Domains : Interpro (EBI)DnaJ_domain    HATPase_C    HEPN_dom    Ubiquitin-rel_dom    Ubiquitin_dom   
Domain families : Pfam (Sanger)HEPN (PF05168)    ubiquitin (PF00240)   
Domain families : Pfam (NCBI)pfam05168    pfam00240   
Domain families : Smart (EMBL)DnaJ (SM00271)  HEPN (SM00748)  
DMDM Disease mutations26278
Blocks (Seattle)SACS
PDB (SRS)1IUR    3O10   
PDB (PDBSum)1IUR    3O10   
PDB (IMB)1IUR    3O10   
PDB (RSDB)1IUR    3O10   
Structural Biology KnowledgeBase1IUR    3O10   
SCOP (Structural Classification of Proteins)1IUR    3O10   
CATH (Classification of proteins structures)1IUR    3O10   
SuperfamilyQ9NZJ4
Human Protein AtlasENSG00000151835
Peptide AtlasQ9NZJ4
HPRD05135
IPIIPI00795015   IPI00784002   IPI00871261   IPI01009120   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZJ4
IntAct (EBI)Q9NZJ4
FunCoupENSG00000151835
BioGRIDSACS
STRING (EMBL)SACS
ZODIACSACS
Ontologies - Pathways
QuickGOQ9NZJ4
Ontology : AmiGOnucleus  cytoplasm  mitochondrion  protein folding  axon  dendrite  Hsp70 protein binding  chaperone binding  proteasome binding  cell body fiber  negative regulation of inclusion body assembly  
Ontology : EGO-EBInucleus  cytoplasm  mitochondrion  protein folding  axon  dendrite  Hsp70 protein binding  chaperone binding  proteasome binding  cell body fiber  negative regulation of inclusion body assembly  
NDEx Network
Atlas of Cancer Signalling NetworkSACS
Wikipedia pathwaysSACS
Orthology - Evolution
OrthoDB26278
GeneTree (enSembl)ENSG00000151835
Phylogenetic Trees/Animal Genes : TreeFamSACS
Homologs : HomoloGeneSACS
Homology/Alignments : Family Browser (UCSC)SACS
Gene fusions - Rearrangements
Fusion: TCGASACS 13q12.12 MIPEP 13q12.12 LUSC
Fusion: TCGASACS 13q12.12 PHF3 6q12 HNSC
Polymorphisms : SNP, variants
NCBI Variation ViewerSACS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SACS
dbVarSACS
ClinVarSACS
1000_GenomesSACS 
Exome Variant ServerSACS
ExAC (Exome Aggregation Consortium)SACS (select the gene name)
Genetic variants : HAPMAP26278
Genomic Variants (DGV)SACS [DGVbeta]
Mutations
ICGC Data PortalSACS 
TCGA Data PortalSACS 
Broad Tumor PortalSACS
OASIS PortalSACS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSACS 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch SACS
DgiDB (Drug Gene Interaction Database)SACS
DoCM (Curated mutations)SACS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SACS (select a term)
intoGenSACS
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)13:23902962-23949682  ENSG00000151835
CONAN: Copy Number AnalysisSACS 
Mutations and Diseases : HGMDSACS
OMIM270550    604490   
MedgenSACS
Genetic Testing Registry SACS
NextProtQ9NZJ4 [Medical]
TSGene26278
GENETestsSACS
Huge Navigator SACS [HugePedia]
snp3D : Map Gene to Disease26278
BioCentury BCIQSACS
ClinGenSACS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26278
Chemical/Pharm GKB GenePA34927
Clinical trialSACS
Miscellaneous
canSAR (ICR)SACS (select the gene name)
Probes
Litterature
PubMed75 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSACS
EVEXSACS
GoPubMedSACS
iHOPSACS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 9 19:20:05 CEST 2016

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