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SGCE (sarcoglycan epsilon)

Identity

Alias_namesDYT11
Other aliasESG
epsilon-SG
HGNC (Hugo) SGCE
LocusID (NCBI) 8910
Atlas_Id 51788
Location 7q21.3  [Link to chromosome band 7q21]
Location_base_pair Starts at 94585224 and ends at 94656209 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
JA040725 () / SGCE (7q21.3)SGCE (7q21.3) / SCAPER (15q24.3)

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)SGCE   10808
LRG (Locus Reference Genomic)LRG_206
Cards
Entrez_Gene (NCBI)SGCE  8910  sarcoglycan epsilon
AliasesDYT11; ESG; epsilon-SG
GeneCards (Weizmann)SGCE
Ensembl hg19 (Hinxton)ENSG00000127990 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127990 [Gene_View]  chr7:94585224-94656209 [Contig_View]  SGCE [Vega]
ICGC DataPortalENSG00000127990
TCGA cBioPortalSGCE
AceView (NCBI)SGCE
Genatlas (Paris)SGCE
WikiGenes8910
SOURCE (Princeton)SGCE
Genetics Home Reference (NIH)SGCE
Genomic and cartography
GoldenPath hg38 (UCSC)SGCE  -     chr7:94585224-94656209 -  7q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SGCE  -     7q21.3   [Description]    (hg19-Feb_2009)
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 AI640287
RefSeq transcript (Entrez)NM_001099400 NM_001099401 NM_001301139 NM_001346713 NM_001346715 NM_001346717 NM_001346719 NM_001346720 NM_003919
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SGCE
Cluster EST : UnigeneHs.371199 [ NCBI ]
CGAP (NCI)Hs.371199
Alternative Splicing GalleryENSG00000127990
Gene ExpressionSGCE [ NCBI-GEO ]   SGCE [ EBI - ARRAY_EXPRESS ]   SGCE [ SEEK ]   SGCE [ MEM ]
Gene Expression Viewer (FireBrowse)SGCE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8910
GTEX Portal (Tissue expression)SGCE
Human Protein AtlasENSG00000127990-SGCE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43556   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43556  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43556
Splice isoforms : SwissVarO43556
PhosPhoSitePlusO43556
Domains : Interpro (EBI)Cadg    Sarcoglycan_alpha/epsilon    SGCE   
Domain families : Pfam (Sanger)Sarcoglycan_2 (PF05510)   
Domain families : Pfam (NCBI)pfam05510   
Domain families : Smart (EMBL)CADG (SM00736)  
Conserved Domain (NCBI)SGCE
DMDM Disease mutations8910
Blocks (Seattle)SGCE
SuperfamilyO43556
Human Protein Atlas [tissue]ENSG00000127990-SGCE [tissue]
Peptide AtlasO43556
HPRD04999
IPIIPI00418183   IPI00910519   IPI00414984   IPI00853589   IPI00924566   IPI00927007   IPI00973162   IPI00980877   
Protein Interaction databases
DIP (DOE-UCLA)O43556
IntAct (EBI)O43556
FunCoupENSG00000127990
BioGRIDSGCE
STRING (EMBL)SGCE
ZODIACSGCE
Ontologies - Pathways
QuickGOO43556
Ontology : AmiGOmuscle system process  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  membrane organization  
Ontology : EGO-EBImuscle system process  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  membrane organization  
NDEx NetworkSGCE
Atlas of Cancer Signalling NetworkSGCE
Wikipedia pathwaysSGCE
Orthology - Evolution
OrthoDB8910
GeneTree (enSembl)ENSG00000127990
Phylogenetic Trees/Animal Genes : TreeFamSGCE
HOVERGENO43556
HOGENOMO43556
Homologs : HomoloGeneSGCE
Homology/Alignments : Family Browser (UCSC)SGCE
Gene fusions - Rearrangements
Fusion: Tumor Portal SGCE
Fusion Cancer (Beijing)JA040725 [SGCE]  -  7q21.3 [FUSC001199]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGCE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGCE
dbVarSGCE
ClinVarSGCE
1000_GenomesSGCE 
Exome Variant ServerSGCE
ExAC (Exome Aggregation Consortium)ENSG00000127990
GNOMAD BrowserENSG00000127990
Genetic variants : HAPMAP8910
Genomic Variants (DGV)SGCE [DGVbeta]
DECIPHERSGCE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSGCE 
Mutations
ICGC Data PortalSGCE 
TCGA Data PortalSGCE 
Broad Tumor PortalSGCE
OASIS PortalSGCE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSGCE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSGCE
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
BioMutasearch SGCE
DgiDB (Drug Gene Interaction Database)SGCE
DoCM (Curated mutations)SGCE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SGCE (select a term)
intoGenSGCE
Cancer3DSGCE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM159900    604149   
Orphanet10437   
MedgenSGCE
Genetic Testing Registry SGCE
NextProtO43556 [Medical]
TSGene8910
GENETestsSGCE
Target ValidationSGCE
Huge Navigator SGCE [HugePedia]
snp3D : Map Gene to Disease8910
BioCentury BCIQSGCE
ClinGenSGCE (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8910
Chemical/Pharm GKB GenePA35719
Clinical trialSGCE
Miscellaneous
canSAR (ICR)SGCE (select the gene name)
Probes
Litterature
PubMed82 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSGCE
EVEXSGCE
GoPubMedSGCE
iHOPSGCE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:10:37 CET 2017

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