Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ELP1 (elongator complex protein 1)

Identity

Alias (NCBI)DYS
FD
IKAP
IKBKAP
IKI3
TOT1
HGNC (Hugo) ELP1
HGNC Alias symbIKAP
TOT1
IKI3
HGNC Alias nameelongator acetyltransferase complex subunit 1
HGNC Previous nameDYS
 IKBKAP
HGNC Previous namedysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)
 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
LocusID (NCBI) 8518
Atlas_Id 56907
Location 9q31.3  [Link to chromosome band 9q31]
Location_base_pair Starts at 108867517 and ends at 108934124 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)
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

External links

Nomenclature
HGNC (Hugo)ELP1   5959
LRG (Locus Reference Genomic)LRG_251
Cards
Entrez_Gene (NCBI)ELP1    elongator complex protein 1
AliasesDYS; FD; IKAP; IKBKAP; 
IKI3; TOT1
GeneCards (Weizmann)ELP1
Ensembl hg19 (Hinxton)ENSG00000070061 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070061 [Gene_View]  ENSG00000070061 [Sequence]  chr9:108867517-108934124 [Contig_View]  ELP1 [Vega]
ICGC DataPortalENSG00000070061
TCGA cBioPortalELP1
AceView (NCBI)ELP1
Genatlas (Paris)ELP1
SOURCE (Princeton)ELP1
Genetics Home Reference (NIH)ELP1
Genomic and cartography
GoldenPath hg38 (UCSC)ELP1  -     chr9:108867517-108934124 -  9q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ELP1  -     9q31.3   [Description]    (hg19-Feb_2009)
GoldenPathELP1 - 9q31.3 [CytoView hg19]  ELP1 - 9q31.3 [CytoView hg38]
ImmunoBaseENSG00000070061
genome Data Viewer NCBIELP1 [Mapview hg19]  
OMIM223900   603722   
Gene and transcription
Genbank (Entrez)AB210033 AF044195 AF153419 AI219443 AK001641
RefSeq transcript (Entrez)NM_001318360 NM_001330749 NM_003640
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ELP1
Alternative Splicing GalleryENSG00000070061
Gene ExpressionELP1 [ NCBI-GEO ]   ELP1 [ EBI - ARRAY_EXPRESS ]   ELP1 [ SEEK ]   ELP1 [ MEM ]
Gene Expression Viewer (FireBrowse)ELP1 [ Firebrowse - Broad ]
GenevisibleExpression of ELP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8518
GTEX Portal (Tissue expression)ELP1
Human Protein AtlasENSG00000070061-ELP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95163   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95163  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95163
Splice isoforms : SwissVarO95163
PhosPhoSitePlusO95163
Domains : Interpro (EBI)Elp1    WD40/YVTN_repeat-like_dom_sf   
Domain families : Pfam (Sanger)IKI3 (PF04762)   
Domain families : Pfam (NCBI)pfam04762   
Conserved Domain (NCBI)ELP1
Blocks (Seattle)ELP1
PDB (RSDB)5CQR   
PDB Europe5CQR   
PDB (PDBSum)5CQR   
PDB (IMB)5CQR   
Structural Biology KnowledgeBase5CQR   
SCOP (Structural Classification of Proteins)5CQR   
CATH (Classification of proteins structures)5CQR   
SuperfamilyO95163
Human Protein Atlas [tissue]ENSG00000070061-ELP1 [tissue]
Peptide AtlasO95163
IPIIPI00293735   IPI00981273   
Protein Interaction databases
DIP (DOE-UCLA)O95163
IntAct (EBI)O95163
BioGRIDELP1
STRING (EMBL)ELP1
ZODIACELP1
Ontologies - Pathways
QuickGOO95163
Ontology : AmiGOtRNA binding  tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation  protein binding  nucleus  cytoplasm  cytosol  cytosol  Elongator holoenzyme complex  Elongator holoenzyme complex  
Ontology : EGO-EBItRNA binding  tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridinylation  protein binding  nucleus  cytoplasm  cytosol  cytosol  Elongator holoenzyme complex  Elongator holoenzyme complex  
NDEx NetworkELP1
Atlas of Cancer Signalling NetworkELP1
Wikipedia pathwaysELP1
Orthology - Evolution
OrthoDB8518
GeneTree (enSembl)ENSG00000070061
Phylogenetic Trees/Animal Genes : TreeFamELP1
HOGENOMO95163
Homologs : HomoloGeneELP1
Homology/Alignments : Family Browser (UCSC)ELP1
Gene fusions - Rearrangements
Fusion : QuiverELP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerELP1 [hg38]
dbVarELP1
ClinVarELP1
MonarchELP1
1000_GenomesELP1 
Exome Variant ServerELP1
GNOMAD BrowserENSG00000070061
Varsome BrowserELP1
Genomic Variants (DGV)ELP1 [DGVbeta]
DECIPHERELP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisELP1 
Mutations
ICGC Data PortalELP1 
TCGA Data PortalELP1 
Broad Tumor PortalELP1
OASIS PortalELP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICELP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DELP1
Mutations and Diseases : HGMDELP1
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 ELP1
DgiDB (Drug Gene Interaction Database)ELP1
DoCM (Curated mutations)ELP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ELP1 (select a term)
intoGenELP1
Cancer3DELP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM223900    603722   
Orphanet
DisGeNETELP1
MedgenELP1
Genetic Testing Registry ELP1
NextProtO95163 [Medical]
GENETestsELP1
Target ValidationELP1
Huge Navigator ELP1 [HugePedia]
ClinGenELP1
Clinical trials, drugs, therapy
MyCancerGenomeELP1
Protein Interactions : CTD
Pharm GKB GenePA29775
PharosO95163
Clinical trialELP1
Miscellaneous
canSAR (ICR)ELP1 (select the gene name)
HarmonizomeELP1
DataMed IndexELP1
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXELP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:14:19 CET 2021
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