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TLE5 (TLE family member 5, transcriptional modulator)

Identity

Alias_namesAES
amino-terminal enhancer of split
Alias_symbol (synonym)GRG5
Other aliasAES-1
AES-2
ESP1
GRG
Grg-5
HGNC (Hugo) TLE5
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 / ELK3 12q23.1FGFR3 4p16.3 / AES 19p13.3VPS41 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

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)TLE5   307
Cards
Entrez_Gene (NCBI)TLE5  166  TLE family member 5, transcriptional modulator
AliasesAES; AES-1; AES-2; ESP1; 
GRG; GRG5; Grg-5
GeneCards (Weizmann)TLE5
Ensembl hg19 (Hinxton)ENSG00000104964 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104964 [Gene_View]  ENSG00000104964 [Sequence]  chr19:3052910-3062373 [Contig_View]  TLE5 [Vega]
ICGC DataPortalENSG00000104964
TCGA cBioPortalTLE5
AceView (NCBI)TLE5
Genatlas (Paris)TLE5
WikiGenes166
SOURCE (Princeton)TLE5
Genetics Home Reference (NIH)TLE5
Genomic and cartography
GoldenPath hg38 (UCSC)TLE5  -     chr19:3052910-3062373 -  -   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TLE5  -     -   [Description]    (hg19-Feb_2009)
GoldenPathTLE5 - - [CytoView hg19]  TLE5 - - [CytoView hg38]
ImmunoBaseENSG00000104964
Mapping of homologs : NCBITLE5 [Mapview hg19]  TLE5 [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)TLE5
Cluster EST : UnigeneHs.515053 [ NCBI ]
CGAP (NCI)Hs.515053
Alternative Splicing GalleryENSG00000104964
Gene ExpressionTLE5 [ NCBI-GEO ]   TLE5 [ EBI - ARRAY_EXPRESS ]   TLE5 [ SEEK ]   TLE5 [ MEM ]
Gene Expression Viewer (FireBrowse)TLE5 [ 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)TLE5
Human Protein AtlasENSG00000104964-TLE5 [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)TLE5
DMDM Disease mutations166
Blocks (Seattle)TLE5
SuperfamilyQ08117
Human Protein Atlas [tissue]ENSG00000104964-TLE5 [tissue]
Peptide AtlasQ08117
HPRD02556
IPIIPI00432493   IPI00383169   IPI00395596   IPI00395597   
Protein Interaction databases
DIP (DOE-UCLA)Q08117
IntAct (EBI)Q08117
FunCoupENSG00000104964
BioGRIDTLE5
STRING (EMBL)TLE5
ZODIACTLE5
Ontologies - Pathways
QuickGOQ08117
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  skeletal system development  transcription corepressor activity  transcription corepressor activity  transcription corepressor activity  protein binding  nucleus  nucleus  transcription factor complex  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  repressing transcription factor binding  response to interleukin-1  negative regulation of canonical Wnt signaling pathway  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  transcription corepressor activity  protein binding  nucleus  nucleus  transcription factor complex  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  repressing transcription factor binding  response to interleukin-1  negative regulation of canonical Wnt signaling pathway  negative regulation of canonical Wnt signaling pathway  positive regulation of anoikis  
NDEx NetworkTLE5
Atlas of Cancer Signalling NetworkTLE5
Wikipedia pathwaysTLE5
Orthology - Evolution
OrthoDB166
GeneTree (enSembl)ENSG00000104964
Phylogenetic Trees/Animal Genes : TreeFamTLE5
HOGENOMQ08117
Homologs : HomoloGeneTLE5
Homology/Alignments : Family Browser (UCSC)TLE5
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 : QuiverTLE5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTLE5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TLE5
dbVarTLE5
ClinVarTLE5
1000_GenomesTLE5 
Exome Variant ServerTLE5
ExAC (Exome Aggregation Consortium)ENSG00000104964
GNOMAD BrowserENSG00000104964
Varsome BrowserTLE5
Genetic variants : HAPMAP166
Genomic Variants (DGV)TLE5 [DGVbeta]
DECIPHERTLE5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTLE5 
Mutations
ICGC Data PortalTLE5 
TCGA Data PortalTLE5 
Broad Tumor PortalTLE5
OASIS PortalTLE5 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDTLE5
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 TLE5
DgiDB (Drug Gene Interaction Database)TLE5
DoCM (Curated mutations)TLE5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TLE5 (select a term)
intoGenTLE5
Cancer3DTLE5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600188   
Orphanet
DisGeNETTLE5
MedgenTLE5
Genetic Testing Registry TLE5
NextProtQ08117 [Medical]
TSGene166
GENETestsTLE5
Target ValidationTLE5
Huge Navigator TLE5 [HugePedia]
snp3D : Map Gene to Disease166
BioCentury BCIQTLE5
ClinGenTLE5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD166
Chemical/Pharm GKB GenePA24606
Clinical trialTLE5
Miscellaneous
canSAR (ICR)TLE5 (select the gene name)
DataMed IndexTLE5
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTLE5
EVEXTLE5
GoPubMedTLE5
iHOPTLE5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:11:50 CET 2019
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