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ETNK1 (ethanolamine kinase 1)

Identity

Alias_symbol (synonym)EKI1
EKI
Other aliasEKI 1
Nbla10396
HGNC (Hugo) ETNK1
LocusID (NCBI) 55500
Atlas_Id 54292
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 22625142 and ends at 22644415 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ENPP2 (8q24.12) / ETNK1 (12p12.1)ETNK1 (12p12.1) / ETNK1 (12p12.1)ETNK1 (12p12.1) / GLT1D1 (12q24.33)
ETNK1 (12p12.1) / RCAN2 (6p21.1)HMCN1 (1q25.3) / ETNK1 (12p12.1)RBBP6 (16p12.1) / ETNK1 (12p12.1)
ETNK1 12p12.1 / GLT1D1 12q24.33ETNK1 12p12.1 / RCAN2 6p21.1

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) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)ETNK1   24649
Cards
Entrez_Gene (NCBI)ETNK1  55500  ethanolamine kinase 1
AliasesEKI; EKI; EKI1; Nbla10396
GeneCards (Weizmann)ETNK1
Ensembl hg19 (Hinxton)ENSG00000139163 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139163 [Gene_View]  chr12:22625142-22644415 [Contig_View]  ETNK1 [Vega]
ICGC DataPortalENSG00000139163
TCGA cBioPortalETNK1
AceView (NCBI)ETNK1
Genatlas (Paris)ETNK1
WikiGenes55500
SOURCE (Princeton)ETNK1
Genetics Home Reference (NIH)ETNK1
Genomic and cartography
GoldenPath hg38 (UCSC)ETNK1  -     chr12:22625142-22644415 +  12p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ETNK1  -     12p12.1   [Description]    (hg19-Feb_2009)
EnsemblETNK1 - 12p12.1 [CytoView hg19]  ETNK1 - 12p12.1 [CytoView hg38]
Mapping of homologs : NCBIETNK1 [Mapview hg19]  ETNK1 [Mapview hg38]
OMIM609858   
Gene and transcription
Genbank (Entrez)AB074182 AF207600 AK027113 AK074425 AL110180
RefSeq transcript (Entrez)NM_001039481 NM_018638
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ETNK1
Cluster EST : UnigeneHs.29464 [ NCBI ]
CGAP (NCI)Hs.29464
Alternative Splicing GalleryENSG00000139163
Gene ExpressionETNK1 [ NCBI-GEO ]   ETNK1 [ EBI - ARRAY_EXPRESS ]   ETNK1 [ SEEK ]   ETNK1 [ MEM ]
Gene Expression Viewer (FireBrowse)ETNK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55500
GTEX Portal (Tissue expression)ETNK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HBU6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HBU6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HBU6
Splice isoforms : SwissVarQ9HBU6
PhosPhoSitePlusQ9HBU6
Domains : Interpro (EBI)Kinase-like_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ETNK1
DMDM Disease mutations55500
Blocks (Seattle)ETNK1
SuperfamilyQ9HBU6
Human Protein AtlasENSG00000139163
Peptide AtlasQ9HBU6
HPRD09934
IPIIPI00030090   IPI00647586   IPI00791142   IPI00384165   IPI01009426   IPI01009841   
Protein Interaction databases
DIP (DOE-UCLA)Q9HBU6
IntAct (EBI)Q9HBU6
FunCoupENSG00000139163
BioGRIDETNK1
STRING (EMBL)ETNK1
ZODIACETNK1
Ontologies - Pathways
QuickGOQ9HBU6
Ontology : AmiGOethanolamine kinase activity  ethanolamine kinase activity  protein binding  ATP binding  nucleoplasm  cytosol  cytosol  plasma membrane  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  membrane  phosphorylation  
Ontology : EGO-EBIethanolamine kinase activity  ethanolamine kinase activity  protein binding  ATP binding  nucleoplasm  cytosol  cytosol  plasma membrane  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  phosphatidylethanolamine biosynthetic process  membrane  phosphorylation  
Pathways : KEGGGlycerophospholipid metabolism   
NDEx NetworkETNK1
Atlas of Cancer Signalling NetworkETNK1
Wikipedia pathwaysETNK1
Orthology - Evolution
OrthoDB55500
GeneTree (enSembl)ENSG00000139163
Phylogenetic Trees/Animal Genes : TreeFamETNK1
HOVERGENQ9HBU6
HOGENOMQ9HBU6
Homologs : HomoloGeneETNK1
Homology/Alignments : Family Browser (UCSC)ETNK1
Gene fusions - Rearrangements
Fusion : MitelmanETNK1/GLT1D1 [12p12.1/12q24.33]  
Fusion : MitelmanETNK1/RCAN2 [12p12.1/6p21.1]  [t(6;12)(p12;p12)]  
Fusion : MitelmanHMCN1/ETNK1 [1q25.3/12p12.1]  [t(1;12)(q25;p12)]  
Fusion: TCGAETNK1 12p12.1 GLT1D1 12q24.33 LUAD
Fusion: TCGAETNK1 12p12.1 RCAN2 6p21.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerETNK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ETNK1
dbVarETNK1
ClinVarETNK1
1000_GenomesETNK1 
Exome Variant ServerETNK1
ExAC (Exome Aggregation Consortium)ETNK1 (select the gene name)
Genetic variants : HAPMAP55500
Genomic Variants (DGV)ETNK1 [DGVbeta]
DECIPHERETNK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisETNK1 
Mutations
ICGC Data PortalETNK1 
TCGA Data PortalETNK1 
Broad Tumor PortalETNK1
OASIS PortalETNK1 [ Somatic mutations - Copy number]
Cancer Gene: CensusETNK1 
Somatic Mutations in Cancer : COSMICETNK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDETNK1
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 ETNK1
DgiDB (Drug Gene Interaction Database)ETNK1
DoCM (Curated mutations)ETNK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ETNK1 (select a term)
intoGenETNK1
Cancer3DETNK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609858   
Orphanet
MedgenETNK1
Genetic Testing Registry ETNK1
NextProtQ9HBU6 [Medical]
TSGene55500
GENETestsETNK1
Target ValidationETNK1
Huge Navigator ETNK1 [HugePedia]
snp3D : Map Gene to Disease55500
BioCentury BCIQETNK1
ClinGenETNK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55500
Chemical/Pharm GKB GenePA134921265
Clinical trialETNK1
Miscellaneous
canSAR (ICR)ETNK1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineETNK1
EVEXETNK1
GoPubMedETNK1
iHOPETNK1
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 Jun 7 12:32:57 CEST 2017

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