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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economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas).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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SGCE (sarcoglycan, epsilon)

Identity

Other namesDYT11
ESG
HGNC (Hugo) SGCE
LocusID (NCBI) 8910
Location 7q21.3
Location_base_pair Starts at 94214536 and ends at 94285521 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

External links

Nomenclature
HGNC (Hugo)SGCE   10808
Cards
Entrez_Gene (NCBI)SGCE  8910  sarcoglycan, epsilon
GeneCards (Weizmann)SGCE
Ensembl hg19 (Hinxton)ENSG00000127990 [Gene_View]  chr7:94214536-94285521 [Contig_View]  SGCE [Vega]
Ensembl hg38 (Hinxton)ENSG00000127990 [Gene_View]  chr7:94214536-94285521 [Contig_View]  SGCE [Vega]
ICGC DataPortalENSG00000127990
cBioPortalSGCE
AceView (NCBI)SGCE
Genatlas (Paris)SGCE
WikiGenes8910
SOURCE (Princeton)SGCE
Genomic and cartography
GoldenPath hg19 (UCSC)SGCE  -     chr7:94214536-94285521 -  7q21.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SGCE  -     7q21.3   [Description]    (hg38-Dec_2013)
EnsemblSGCE - 7q21.3 [CytoView hg19]  SGCE - 7q21.3 [CytoView hg38]
Mapping of homologs : NCBISGCE [Mapview hg19]  SGCE [Mapview hg38]
OMIM159900   604149   
Gene and transcription
Genbank (Entrez)AB117974 AF031920 AF036364 AF516515 AJ000534
RefSeq transcript (Entrez)NM_001099400 NM_001099401 NM_001301139 NM_003919
RefSeq genomic (Entrez)AC_000139 NC_000007 NC_018918 NG_008893 NT_007933 NW_001839064 NW_004929332
Consensus coding sequences : CCDS (NCBI)SGCE
Cluster EST : UnigeneHs.371199 [ NCBI ]
CGAP (NCI)Hs.371199
Alternative Splicing : Fast-db (Paris)GSHG0028361
Alternative Splicing GalleryENSG00000127990
Gene ExpressionSGCE [ NCBI-GEO ]     SGCE [ SEEK ]   SGCE [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43556 (Uniprot)
NextProtO43556  [Medical]
With graphics : InterProO43556
Splice isoforms : SwissVarO43556 (Swissvar)
Domains : Interpro (EBI)Cadg    Sarcoglycan_2   
Related proteins : CluSTrO43556
Domain families : Pfam (Sanger)Sarcoglycan_2 (PF05510)   
Domain families : Pfam (NCBI)pfam05510   
Domain families : Smart (EMBL)CADG (SM00736)  
DMDM Disease mutations8910
Blocks (Seattle)O43556
Human Protein AtlasENSG00000127990
Peptide AtlasO43556
HPRD04999
IPIIPI00418183   IPI00910519   IPI00414984   IPI00853589   IPI00924566   IPI00927007   IPI00973162   IPI00980877   
Protein Interaction databases
DIP (DOE-UCLA)O43556
IntAct (EBI)O43556
FunCoupENSG00000127990
BioGRIDSGCE
IntegromeDBSGCE
STRING (EMBL)SGCE
Ontologies - Pathways
QuickGOO43556
Ontology : AmiGOcalcium ion binding  Golgi apparatus  cytoskeleton  plasma membrane  integral component of plasma membrane  cell-matrix adhesion  muscle organ development  dystrophin-associated glycoprotein complex  sarcoglycan complex  dendrite  dendrite membrane  sarcolemma  
Ontology : EGO-EBIcalcium ion binding  Golgi apparatus  cytoskeleton  plasma membrane  integral component of plasma membrane  cell-matrix adhesion  muscle organ development  dystrophin-associated glycoprotein complex  sarcoglycan complex  dendrite  dendrite membrane  sarcolemma  
Protein Interaction DatabaseSGCE
DoCM (Curated mutations)SGCE
Wikipedia pathwaysSGCE
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSGCE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGCE
dbVarSGCE
ClinVarSGCE
1000_GenomesSGCE 
Exome Variant ServerSGCE
SNP (GeneSNP Utah)SGCE
SNP : HGBaseSGCE
Genetic variants : HAPMAPSGCE
Genomic Variants (DGV)SGCE [DGVbeta]
Mutations
ICGC Data PortalENSG00000127990 
Somatic Mutations in Cancer : COSMICSGCE 
CONAN: Copy Number AnalysisSGCE 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)7:94214536-94285521
Mutations and Diseases : HGMDSGCE
OMIM159900    604149   
MedgenSGCE
NextProtO43556 [Medical]
GENETestsSGCE
Disease Genetic AssociationSGCE
Huge Navigator SGCE [HugePedia]  SGCE [HugeCancerGEM]
snp3D : Map Gene to Disease8910
DGIdb (Drug Gene Interaction db)SGCE
General knowledge
Homologs : HomoloGeneSGCE
Homology/Alignments : Family Browser (UCSC)SGCE
Phylogenetic Trees/Animal Genes : TreeFamSGCE
Chemical/Protein Interactions : CTD8910
Chemical/Pharm GKB GenePA35719
Clinical trialSGCE
Cancer Resource (Charite)ENSG00000127990
Other databases
Probes
Litterature
PubMed73 Pubmed reference(s) in Entrez
CoreMineSGCE
GoPubMedSGCE
iHOPSGCE
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 18:31:36 CET 2015

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