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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

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SACS (sacsin molecular chaperone)

Identity

Other namesARSACS
DNAJC29
PPP1R138
SPAX6
HGNC (Hugo) SACS
LocusID (NCBI) 26278
Location 13q12.12
Location_base_pair Starts at 23902962 and ends at 23949682 bp from pter ( according to hg19-Feb_2009)
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
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
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)AC_000145 NC_000013 NC_018924 NG_012342 NT_024524 NW_001838070 NW_004929388
Consensus coding sequences : CCDS (NCBI)SACS
Cluster EST : UnigeneHs.159492 [ NCBI ]
CGAP (NCI)Hs.159492
Alternative Splicing : Fast-db (Paris)GSHG0008353
Alternative Splicing GalleryENSG00000151835
Gene ExpressionSACS [ NCBI-GEO ]     SACS [ SEEK ]   SACS [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZJ4 (Uniprot)
NextProtQ9NZJ4  [Medical]
With graphics : InterProQ9NZJ4
Splice isoforms : SwissVarQ9NZJ4 (Swissvar)
Domaine pattern : Prosite (Expaxy)DNAJ_2 (PS50076)    HEPN (PS50910)    UBIQUITIN_2 (PS50053)   
Domains : Interpro (EBI)DnaJ_domain    HATPase_ATP-bd    HEPN    Ubiquitin-like    Ubiquitin-rel_dom   
Related proteins : CluSTrQ9NZJ4
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)Q9NZJ4
PDB (SRS)1IUR    3O10   
PDB (PDBSum)1IUR    3O10   
PDB (IMB)1IUR    3O10   
PDB (RSDB)1IUR    3O10   
Human Protein AtlasENSG00000151835
Peptide AtlasQ9NZJ4
HPRD05135
IPIIPI00795015   IPI00784002   IPI00871261   IPI01009120   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZJ4
IntAct (EBI)Q9NZJ4
FunCoupENSG00000151835
BioGRIDSACS
IntegromeDBSACS
STRING (EMBL)SACS
Ontologies - Pathways
QuickGOQ9NZJ4
Ontology : AmiGOATP binding  nucleus  cytoplasm  mitochondrion  protein folding  cell death  axon  dendrite  Hsp70 protein binding  chaperone binding  proteasome binding  cell body fiber  negative regulation of inclusion body assembly  
Ontology : EGO-EBIATP binding  nucleus  cytoplasm  mitochondrion  protein folding  cell death  axon  dendrite  Hsp70 protein binding  chaperone binding  proteasome binding  cell body fiber  negative regulation of inclusion body assembly  
Protein Interaction DatabaseSACS
DoCM (Curated mutations)SACS
Wikipedia pathwaysSACS
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSACS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SACS
dbVarSACS
ClinVarSACS
1000_GenomesSACS 
Exome Variant ServerSACS
SNP (GeneSNP Utah)SACS
SNP : HGBaseSACS
Genetic variants : HAPMAPSACS
Genomic Variants (DGV)SACS [DGVbeta]
Mutations
ICGC Data PortalENSG00000151835 
Somatic Mutations in Cancer : COSMICSACS 
CONAN: Copy Number AnalysisSACS 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)13:23902962-23949682
Mutations and Diseases : HGMDSACS
OMIM270550    604490   
MedgenSACS
NextProtQ9NZJ4 [Medical]
GENETestsSACS
Disease Genetic AssociationSACS
Huge Navigator SACS [HugePedia]  SACS [HugeCancerGEM]
snp3D : Map Gene to Disease26278
DGIdb (Drug Gene Interaction db)SACS
General knowledge
Homologs : HomoloGeneSACS
Homology/Alignments : Family Browser (UCSC)SACS
Phylogenetic Trees/Animal Genes : TreeFamSACS
Chemical/Protein Interactions : CTD26278
Chemical/Pharm GKB GenePA34927
Clinical trialSACS
Cancer Resource (Charite)ENSG00000151835
Other databases
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
CoreMineSACS
GoPubMedSACS
iHOPSACS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 14 18:26:07 CET 2015

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