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ECD (ecdysoneless cell cycle regulator)

Identity

Alias_namesecdysoneless homolog (Drosophila)
Alias_symbol (synonym)hSGT1
GCR2
Other aliasHSGT1
SGT1
HGNC (Hugo) ECD
LocusID (NCBI) 11319
Atlas_Id 52712
Location 10q22.2  [Link to chromosome band 10q22]
Location_base_pair Starts at 73134524 and ends at 73168095 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)
CEBPZ (2p22.2) / ECD (10q22.1)ECD (10q22.1) / CFAP70 (10q22.2)ECD (10q22.1) / CXCL12 (10q11.21)
KCNMA1 (10q22.3) / ECD (10q22.1)ECD 10q22.1 / CXCL12 10q11.21ECD 10q22.1 TTC18
KCNMA1 10q22.3 / ECD 10q22.1

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(10;10)(q11;q22) ECD/CXCL12
t(10;10)(q22;q22) KCNMA1/ECD
t(10;10)(q22;q22) ECD/CFAP70

External links

Nomenclature
HGNC (Hugo)ECD   17029
Cards
Entrez_Gene (NCBI)ECD  11319  ecdysoneless cell cycle regulator
AliasesGCR2; HSGT1; SGT1
GeneCards (Weizmann)ECD
Ensembl hg19 (Hinxton)ENSG00000122882 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122882 [Gene_View]  chr10:73134524-73168095 [Contig_View]  ECD [Vega]
ICGC DataPortalENSG00000122882
TCGA cBioPortalECD
AceView (NCBI)ECD
Genatlas (Paris)ECD
WikiGenes11319
SOURCE (Princeton)ECD
Genetics Home Reference (NIH)ECD
Genomic and cartography
GoldenPath hg38 (UCSC)ECD  -     chr10:73134524-73168095 -  10q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ECD  -     10q22.2   [Description]    (hg19-Feb_2009)
EnsemblECD - 10q22.2 [CytoView hg19]  ECD - 10q22.2 [CytoView hg38]
Mapping of homologs : NCBIECD [Mapview hg19]  ECD [Mapview hg38]
OMIM616464   
Gene and transcription
Genbank (Entrez)AK022616 AK225519 AK315711 BC000721 BC103720
RefSeq transcript (Entrez)NM_001135752 NM_001135753 NM_007265
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ECD
Cluster EST : UnigeneHs.631822 [ NCBI ]
CGAP (NCI)Hs.631822
Alternative Splicing GalleryENSG00000122882
Gene ExpressionECD [ NCBI-GEO ]   ECD [ EBI - ARRAY_EXPRESS ]   ECD [ SEEK ]   ECD [ MEM ]
Gene Expression Viewer (FireBrowse)ECD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11319
GTEX Portal (Tissue expression)ECD
Human Protein AtlasENSG00000122882-ECD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95905   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95905  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95905
Splice isoforms : SwissVarO95905
PhosPhoSitePlusO95905
Domains : Interpro (EBI)Ecd   
Domain families : Pfam (Sanger)SGT1 (PF07093)   
Domain families : Pfam (NCBI)pfam07093   
Conserved Domain (NCBI)ECD
DMDM Disease mutations11319
Blocks (Seattle)ECD
SuperfamilyO95905
Human Protein Atlas [tissue]ENSG00000122882-ECD [tissue]
Peptide AtlasO95905
HPRD11032
IPIIPI00027034   IPI00913873   IPI00913859   IPI00644124   IPI00644693   IPI00982207   
Protein Interaction databases
DIP (DOE-UCLA)O95905
IntAct (EBI)O95905
FunCoupENSG00000122882
BioGRIDECD
STRING (EMBL)ECD
ZODIACECD
Ontologies - Pathways
QuickGOO95905
Ontology : AmiGOtranscription coactivator activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  regulation of glycolytic process  transcription by RNA polymerase II  mRNA processing  cell proliferation  RNA splicing  histone acetyltransferase binding  positive regulation of transcription by RNA polymerase II  R2TP complex  regulation of G1/S transition of mitotic cell cycle  
Ontology : EGO-EBItranscription coactivator activity  protein binding  nucleus  nucleoplasm  cytoplasm  cytosol  regulation of glycolytic process  transcription by RNA polymerase II  mRNA processing  cell proliferation  RNA splicing  histone acetyltransferase binding  positive regulation of transcription by RNA polymerase II  R2TP complex  regulation of G1/S transition of mitotic cell cycle  
NDEx NetworkECD
Atlas of Cancer Signalling NetworkECD
Wikipedia pathwaysECD
Orthology - Evolution
OrthoDB11319
GeneTree (enSembl)ENSG00000122882
Phylogenetic Trees/Animal Genes : TreeFamECD
HOVERGENO95905
HOGENOMO95905
Homologs : HomoloGeneECD
Homology/Alignments : Family Browser (UCSC)ECD
Gene fusions - Rearrangements
Fusion : MitelmanECD/CFAP70 [10q22.1/10q22.2]  
Fusion : MitelmanECD/CXCL12 [10q22.1/10q11.21]  [t(10;10)(q11;q22)]  
Fusion : MitelmanKCNMA1/ECD [10q22.3/10q22.1]  [t(10;10)(q22;q22)]  
Fusion: TCGA_MDACCECD 10q22.1 CXCL12 10q11.21 BRCA
Fusion: TCGA_MDACCECD 10q22.1 TTC18 LUSC
Fusion: TCGA_MDACCKCNMA1 10q22.3 ECD 10q22.1 BRCA
Fusion PortalECD 10q22.1 CXCL12 10q11.21 BRCA
Fusion PortalECD 10q22.1 TTC18 LUSC
Fusion PortalKCNMA1 10q22.3 ECD 10q22.1 BRCA
Fusion : QuiverECD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerECD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ECD
dbVarECD
ClinVarECD
1000_GenomesECD 
Exome Variant ServerECD
ExAC (Exome Aggregation Consortium)ENSG00000122882
GNOMAD BrowserENSG00000122882
Genetic variants : HAPMAP11319
Genomic Variants (DGV)ECD [DGVbeta]
DECIPHERECD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisECD 
Mutations
ICGC Data PortalECD 
TCGA Data PortalECD 
Broad Tumor PortalECD
OASIS PortalECD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICECD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDECD
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ECD
DgiDB (Drug Gene Interaction Database)ECD
DoCM (Curated mutations)ECD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ECD (select a term)
intoGenECD
Cancer3DECD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616464   
Orphanet
DisGeNETECD
MedgenECD
Genetic Testing Registry ECD
NextProtO95905 [Medical]
TSGene11319
GENETestsECD
Target ValidationECD
Huge Navigator ECD [HugePedia]
snp3D : Map Gene to Disease11319
BioCentury BCIQECD
ClinGenECD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11319
Chemical/Pharm GKB GenePA143485450
Clinical trialECD
Miscellaneous
canSAR (ICR)ECD (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineECD
EVEXECD
GoPubMedECD
iHOPECD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jun 18 19:18:43 CEST 2018
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