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ELP4 (elongator acetyltransferase complex subunit 4)

Identity

Alias_namesC11orf19
chromosome 11 open reading frame 19
elongation protein 4 homolog (S. cerevisiae)
Alias_symbol (synonym)PAXNEB
Other aliasAN
PAX6NEB
dJ68P15A.1
hELP4
HGNC (Hugo) ELP4
LocusID (NCBI) 26610
Atlas_Id 62807
Location 11p13  [Link to chromosome band 11p13]
Location_base_pair Starts at 31531276 and ends at 31806073 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATG13 (11p11.2) / ELP4 (11p13)ELP4 (11p13) / CFTR (7q31.2)ELP4 (11p13) / DNAJC24 (11p13)
ELP4 (11p13) / IMMP1L (11p13)ELP4 (11p13) / KLHDC10 (7q32.2)ELP4 (11p13) / MRPL9 (1q21.3)
IMMP1L (11p13) / ELP4 (11p13)LDLRAD3 (11p13) / ELP4 (11p13)LDLRAD3 ELP4
ATG13 ELP4

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)ELP4   1171
Cards
Entrez_Gene (NCBI)ELP4  26610  elongator acetyltransferase complex subunit 4
AliasesAN; C11orf19; PAX6NEB; PAXNEB; 
dJ68P15A.1; hELP4
GeneCards (Weizmann)ELP4
Ensembl hg19 (Hinxton) [Gene_View]  chr11:31531276-31806073 [Contig_View]  ELP4 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr11:31531276-31806073 [Contig_View]  ELP4 [Vega]
TCGA cBioPortalELP4
AceView (NCBI)ELP4
Genatlas (Paris)ELP4
WikiGenes26610
SOURCE (Princeton)ELP4
Genetics Home Reference (NIH)ELP4
Genomic and cartography
GoldenPath hg19 (UCSC)ELP4  -     chr11:31531276-31806073 +  11p13   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ELP4  -     11p13   [Description]    (hg38-Dec_2013)
EnsemblELP4 - 11p13 [CytoView hg19]  ELP4 - 11p13 [CytoView hg38]
Mapping of homologs : NCBIELP4 [Mapview hg19]  ELP4 [Mapview hg38]
OMIM106210   606985   
Gene and transcription
Genbank (Entrez)AK000505 AK304885 AL136677 AM393460 AM393857
RefSeq transcript (Entrez)NM_001288725 NM_001288726 NM_019040
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_034086 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)ELP4
Cluster EST : UnigeneHs.614864 [ NCBI ]
CGAP (NCI)Hs.614864
Gene ExpressionELP4 [ NCBI-GEO ]   ELP4 [ EBI - ARRAY_EXPRESS ]   ELP4 [ SEEK ]   ELP4 [ MEM ]
Gene Expression Viewer (FireBrowse)ELP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26610
GTEX Portal (Tissue expression)ELP4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EB1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EB1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EB1
Splice isoforms : SwissVarQ96EB1
PhosPhoSitePlusQ96EB1
Domains : Interpro (EBI)Elongator_complex_protein_4    P-loop_NTPase   
Domain families : Pfam (Sanger)PAXNEB (PF05625)   
Domain families : Pfam (NCBI)pfam05625   
Conserved Domain (NCBI)ELP4
DMDM Disease mutations26610
Blocks (Seattle)ELP4
SuperfamilyQ96EB1
Peptide AtlasQ96EB1
HPRD07377
IPIIPI00061376   IPI00784483   IPI00909309   IPI00980985   
Protein Interaction databases
DIP (DOE-UCLA)Q96EB1
IntAct (EBI)Q96EB1
BioGRIDELP4
STRING (EMBL)ELP4
ZODIACELP4
Ontologies - Pathways
QuickGOQ96EB1
Ontology : AmiGOhistone acetyltransferase complex  RNA polymerase II core binding  histone acetyltransferase activity  protein binding  nucleoplasm  cytoplasm  chromatin organization  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  transcription elongation factor complex  phosphorylase kinase regulator activity  Elongator holoenzyme complex  histone H3 acetylation  histone H4 acetylation  regulation of protein kinase activity  
Ontology : EGO-EBIhistone acetyltransferase complex  RNA polymerase II core binding  histone acetyltransferase activity  protein binding  nucleoplasm  cytoplasm  chromatin organization  regulation of transcription from RNA polymerase II promoter  regulation of transcription from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  transcription elongation factor complex  phosphorylase kinase regulator activity  Elongator holoenzyme complex  histone H3 acetylation  histone H4 acetylation  regulation of protein kinase activity  
NDEx NetworkELP4
Atlas of Cancer Signalling NetworkELP4
Wikipedia pathwaysELP4
Orthology - Evolution
OrthoDB26610
Phylogenetic Trees/Animal Genes : TreeFamELP4
HOVERGENQ96EB1
HOGENOMQ96EB1
Homologs : HomoloGeneELP4
Homology/Alignments : Family Browser (UCSC)ELP4
Gene fusions - Rearrangements
Fusion: TCGALDLRAD3 ELP4
Fusion: TCGAATG13 ELP4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ELP4
dbVarELP4
ClinVarELP4
1000_GenomesELP4 
Exome Variant ServerELP4
ExAC (Exome Aggregation Consortium)ELP4 (select the gene name)
Genetic variants : HAPMAP26610
Genomic Variants (DGV)ELP4 [DGVbeta]
DECIPHER (Syndromes)11:31531276-31806073  
CONAN: Copy Number AnalysisELP4 
Mutations
ICGC Data PortalELP4 
TCGA Data PortalELP4 
Broad Tumor PortalELP4
OASIS PortalELP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELP4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDELP4
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 ELP4
DgiDB (Drug Gene Interaction Database)ELP4
DoCM (Curated mutations)ELP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELP4 (select a term)
intoGenELP4
Cancer3DELP4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM106210    606985   
Orphanet
MedgenELP4
Genetic Testing Registry ELP4
NextProtQ96EB1 [Medical]
TSGene26610
GENETestsELP4
Huge Navigator ELP4 [HugePedia]
snp3D : Map Gene to Disease26610
BioCentury BCIQELP4
ClinGenELP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26610
Chemical/Pharm GKB GenePA27764
Clinical trialELP4
Miscellaneous
canSAR (ICR)ELP4 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineELP4
EVEXELP4
GoPubMedELP4
iHOPELP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:02:48 CET 2017

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