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AES (amino-terminal enhancer of split)

Identity

Alias_symbol (synonym)GRG5
TLE5
Other aliasAES-1
AES-2
ESP1
GRG
Grg-5
HGNC (Hugo) AES
LocusID (NCBI) 166
Atlas_Id 53080
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 3052910 and ends at 3062373 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)
AES (19p13.3) / ABL1 (9q34.12)AES (19p13.3) / AEBP2 (12p12.3)AES (19p13.3) / AES (19p13.3)
AES (19p13.3) / ELK3 (12q23.1)AES (19p13.3) / ENGASE (17q25.3)AES (19p13.3) / HLA-C (6p21.33)
AES (19p13.3) / MPHOSPH10 (2p13.3)AES (19p13.3) / NBPF11 (1q21.1)AES (19p13.3) / ST3GAL1 (8q24.22)
FGFR3 (4p16.3) / AES (19p13.3)MPHOSPH10 (2p13.3) / AES (19p13.3)SRSF4 (1p35.3) / AES (19p13.3)
VPS41 (7p14.1) / AES (19p13.3)AES 19p13.3 / ELK3 12q23.1FGFR3 4p16.3 / AES 19p13.3
VPS41 7p14.1 / AES 19p13.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(4;19)(p16;p13) FGFR3/AES
t(7;19)(p14;p13) VPS41/AES
t(12;19)(q23;p13) AES/ELK3


External links

Nomenclature
HGNC (Hugo)AES   307
Cards
Entrez_Gene (NCBI)AES  166  amino-terminal enhancer of split
AliasesAES-1; AES-2; ESP1; GRG; 
GRG5; Grg-5; TLE5
GeneCards (Weizmann)AES
Ensembl hg19 (Hinxton)ENSG00000104964 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104964 [Gene_View]  ENSG00000104964 [Sequence]  chr19:3052910-3062373 [Contig_View]  AES [Vega]
ICGC DataPortalENSG00000104964
TCGA cBioPortalAES
AceView (NCBI)AES
Genatlas (Paris)AES
WikiGenes166
SOURCE (Princeton)AES
Genetics Home Reference (NIH)AES
Genomic and cartography
GoldenPath hg38 (UCSC)AES  -     chr19:3052910-3062373 -  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AES  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblAES - 19p13.3 [CytoView hg19]  AES - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBIAES [Mapview hg19]  AES [Mapview hg38]
OMIM600188   
Gene and transcription
Genbank (Entrez)AF072902 AF269289 AK094591 AK095154 AK314713
RefSeq transcript (Entrez)NM_001130 NM_198969 NM_198970
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AES
Cluster EST : UnigeneHs.515053 [ NCBI ]
CGAP (NCI)Hs.515053
Alternative Splicing GalleryENSG00000104964
Gene ExpressionAES [ NCBI-GEO ]   AES [ EBI - ARRAY_EXPRESS ]   AES [ SEEK ]   AES [ MEM ]
Gene Expression Viewer (FireBrowse)AES [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)166
GTEX Portal (Tissue expression)AES
Human Protein AtlasENSG00000104964-AES [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08117   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08117  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08117
Splice isoforms : SwissVarQ08117
PhosPhoSitePlusQ08117
Domains : Interpro (EBI)Groucho/TLE_N   
Domain families : Pfam (Sanger)TLE_N (PF03920)   
Domain families : Pfam (NCBI)pfam03920   
Conserved Domain (NCBI)AES
DMDM Disease mutations166
Blocks (Seattle)AES
SuperfamilyQ08117
Human Protein Atlas [tissue]ENSG00000104964-AES [tissue]
Peptide AtlasQ08117
HPRD02556
IPIIPI00432493   IPI00383169   IPI00395596   IPI00395597   
Protein Interaction databases
DIP (DOE-UCLA)Q08117
IntAct (EBI)Q08117
FunCoupENSG00000104964
BioGRIDAES
STRING (EMBL)AES
ZODIACAES
Ontologies - Pathways
QuickGOQ08117
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  skeletal system development  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  transcription, DNA-templated  multicellular organism development  animal organ morphogenesis  negative regulation of gene expression  Wnt signaling pathway  cellular response to extracellular stimulus  negative regulation of protein binding  regulation of growth  negative regulation of transcription, DNA-templated  negative regulation of response to cytokine stimulus  response to interleukin-1  negative regulation of canonical Wnt signaling pathway  positive regulation of anoikis  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  skeletal system development  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  transcription, DNA-templated  multicellular organism development  animal organ morphogenesis  negative regulation of gene expression  Wnt signaling pathway  cellular response to extracellular stimulus  negative regulation of protein binding  regulation of growth  negative regulation of transcription, DNA-templated  negative regulation of response to cytokine stimulus  response to interleukin-1  negative regulation of canonical Wnt signaling pathway  positive regulation of anoikis  
NDEx NetworkAES
Atlas of Cancer Signalling NetworkAES
Wikipedia pathwaysAES
Orthology - Evolution
OrthoDB166
GeneTree (enSembl)ENSG00000104964
Phylogenetic Trees/Animal Genes : TreeFamAES
HOVERGENQ08117
HOGENOMQ08117
Homologs : HomoloGeneAES
Homology/Alignments : Family Browser (UCSC)AES
Gene fusions - Rearrangements
Fusion : MitelmanAES/ELK3 [19p13.3/12q23.1]  
Fusion : MitelmanFGFR3/AES [4p16.3/19p13.3]  [t(4;19)(p16;p13)]  
Fusion : MitelmanVPS41/AES [7p14.1/19p13.3]  [t(7;19)(p14;p13)]  
Fusion PortalAES 19p13.3 ELK3 12q23.1 HNSC
Fusion PortalFGFR3 4p16.3 AES 19p13.3 PRAD
Fusion PortalVPS41 7p14.1 AES 19p13.3 HNSC
Fusion Cancer (Beijing)AES [19p13.3]  -  HLA-C [6p21.33]  [FUSC002476]
Fusion : QuiverAES
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAES [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AES
dbVarAES
ClinVarAES
1000_GenomesAES 
Exome Variant ServerAES
ExAC (Exome Aggregation Consortium)ENSG00000104964
GNOMAD BrowserENSG00000104964
Genetic variants : HAPMAP166
Genomic Variants (DGV)AES [DGVbeta]
DECIPHERAES [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAES 
Mutations
ICGC Data PortalAES 
TCGA Data PortalAES 
Broad Tumor PortalAES
OASIS PortalAES [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAES  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAES
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
BioMutasearch AES
DgiDB (Drug Gene Interaction Database)AES
DoCM (Curated mutations)AES (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AES (select a term)
intoGenAES
Cancer3DAES(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600188   
Orphanet
DisGeNETAES
MedgenAES
Genetic Testing Registry AES
NextProtQ08117 [Medical]
TSGene166
GENETestsAES
Target ValidationAES
Huge Navigator AES [HugePedia]
snp3D : Map Gene to Disease166
BioCentury BCIQAES
ClinGenAES
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD166
Chemical/Pharm GKB GenePA24606
Clinical trialAES
Miscellaneous
canSAR (ICR)AES (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAES
EVEXAES
GoPubMedAES
iHOPAES
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:13:22 CEST 2018

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