Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ELL3 (elongation factor for RNA polymerase II 3)

Identity

Alias_nameselongation factor RNA polymerase II-like 3
Alias_symbol (synonym)FLJ22637
Other alias-
HGNC (Hugo) ELL3
LocusID (NCBI) 80237
Atlas_Id 53595
Location 15q15.3  [Link to chromosome band 15q15]
Location_base_pair Starts at 43772600 and ends at 43777304 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)
AMMECR1 (Xq23) / ELL3 (15q15.3)ELL3 (15q15.3) / ARR3 (Xq13.1)ELL3 (15q15.3) / DPYSL3 (5q32)
ELL3 (15q15.3) / DYNLT1 (6q25.3)ELL3 (15q15.3) / ELL3 (15q15.3)ELL3 (15q15.3) / FSHR (2p16.3)
ELL3 (15q15.3) / LRWD1 (7q22.1)ELL3 (15q15.3) / PAWR (12q21.2)ELL3 (15q15.3) / PSMC4 (19q13.2)
ELL3 (15q15.3) / STAR (8p11.23)ELL3 (15q15.3) / TENM4 (11q14.1)INPP4B (4q31.21) / ELL3 (15q15.3)
MRPL42 (12q22) / ELL3 (15q15.3)

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)ELL3   23113
Cards
Entrez_Gene (NCBI)ELL3  80237  elongation factor for RNA polymerase II 3
Aliases
GeneCards (Weizmann)ELL3
Ensembl hg19 (Hinxton)ENSG00000128886 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128886 [Gene_View]  ENSG00000128886 [Sequence]  chr15:43772600-43777304 [Contig_View]  ELL3 [Vega]
ICGC DataPortalENSG00000128886
TCGA cBioPortalELL3
AceView (NCBI)ELL3
Genatlas (Paris)ELL3
WikiGenes80237
SOURCE (Princeton)ELL3
Genetics Home Reference (NIH)ELL3
Genomic and cartography
GoldenPath hg38 (UCSC)ELL3  -     chr15:43772600-43777304 -  15q15.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELL3  -     15q15.3   [Description]    (hg19-Feb_2009)
ELL3 - 15q15.3 [CytoView hg19]  ELL3 - 15q15.3 [CytoView hg38]
Mapping of homologs : NCBIELL3 [Mapview hg19]  ELL3 [Mapview hg38]
OMIM609885   
Gene and transcription
Genbank (Entrez)AF276512 AI955716 AK026290 AK057528 AK126384
RefSeq transcript (Entrez)NM_025165
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELL3
Cluster EST : UnigeneHs.706346 [ NCBI ]
CGAP (NCI)Hs.706346
Alternative Splicing GalleryENSG00000128886
Gene ExpressionELL3 [ NCBI-GEO ]   ELL3 [ EBI - ARRAY_EXPRESS ]   ELL3 [ SEEK ]   ELL3 [ MEM ]
Gene Expression Viewer (FireBrowse)ELL3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80237
GTEX Portal (Tissue expression)ELL3
Human Protein AtlasENSG00000128886-ELL3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HB65   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HB65  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HB65
Splice isoforms : SwissVarQ9HB65
PhosPhoSitePlusQ9HB65
Domains : Interpro (EBI)ELL/occludin    ELL3    ELL_N    Occludin_ELL   
Domain families : Pfam (Sanger)ELL (PF10390)    Occludin_ELL (PF07303)   
Domain families : Pfam (NCBI)pfam10390    pfam07303   
Conserved Domain (NCBI)ELL3
DMDM Disease mutations80237
Blocks (Seattle)ELL3
SuperfamilyQ9HB65
Human Protein Atlas [tissue]ENSG00000128886-ELL3 [tissue]
Peptide AtlasQ9HB65
HPRD10933
IPIIPI00034071   IPI00657735   
Protein Interaction databases
DIP (DOE-UCLA)Q9HB65
IntAct (EBI)Q9HB65
FunCoupENSG00000128886
BioGRIDELL3
STRING (EMBL)ELL3
ZODIACELL3
Ontologies - Pathways
QuickGOQ9HB65
Ontology : AmiGOprotein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  DNA-templated transcription, elongation  transcription by RNA polymerase II  transcription elongation from RNA polymerase II promoter  spermatogenesis  transcription elongation factor complex  transcription elongation factor complex  regulation of epithelial to mesenchymal transition  positive regulation of DNA-templated transcription, elongation  enhancer binding  snRNA transcription by RNA polymerase II  snRNA transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  stem cell differentiation  positive regulation of neurogenesis  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  positive regulation of neural precursor cell proliferation  
Ontology : EGO-EBIprotein binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  DNA-templated transcription, elongation  transcription by RNA polymerase II  transcription elongation from RNA polymerase II promoter  spermatogenesis  transcription elongation factor complex  transcription elongation factor complex  regulation of epithelial to mesenchymal transition  positive regulation of DNA-templated transcription, elongation  enhancer binding  snRNA transcription by RNA polymerase II  snRNA transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  stem cell differentiation  positive regulation of neurogenesis  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  positive regulation of neural precursor cell proliferation  
NDEx NetworkELL3
Atlas of Cancer Signalling NetworkELL3
Wikipedia pathwaysELL3
Orthology - Evolution
OrthoDB80237
GeneTree (enSembl)ENSG00000128886
Phylogenetic Trees/Animal Genes : TreeFamELL3
HOGENOMQ9HB65
Homologs : HomoloGeneELL3
Homology/Alignments : Family Browser (UCSC)ELL3
Gene fusions - Rearrangements
Fusion : QuiverELL3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELL3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELL3
dbVarELL3
ClinVarELL3
1000_GenomesELL3 
Exome Variant ServerELL3
ExAC (Exome Aggregation Consortium)ENSG00000128886
GNOMAD BrowserENSG00000128886
Varsome BrowserELL3
Genetic variants : HAPMAP80237
Genomic Variants (DGV)ELL3 [DGVbeta]
DECIPHERELL3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELL3 
Mutations
ICGC Data PortalELL3 
TCGA Data PortalELL3 
Broad Tumor PortalELL3
OASIS PortalELL3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELL3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELL3
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 ELL3
DgiDB (Drug Gene Interaction Database)ELL3
DoCM (Curated mutations)ELL3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELL3 (select a term)
intoGenELL3
Cancer3DELL3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609885   
Orphanet
DisGeNETELL3
MedgenELL3
Genetic Testing Registry ELL3
NextProtQ9HB65 [Medical]
TSGene80237
GENETestsELL3
Target ValidationELL3
Huge Navigator ELL3 [HugePedia]
snp3D : Map Gene to Disease80237
BioCentury BCIQELL3
ClinGenELL3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80237
Chemical/Pharm GKB GenePA128394728
Clinical trialELL3
Miscellaneous
canSAR (ICR)ELL3 (select the gene name)
DataMed IndexELL3
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELL3
EVEXELL3
GoPubMedELL3
iHOPELL3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 21 15:44:59 CET 2019
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