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EEF1AKMT4-ECE2 (EEF1AKMT4-ECE2 readthrough)

Identity

Alias_namesEEF1AKMT4-ECE2
Other aliasECE-2
ECE2
HGNC (Hugo) EEF1AKMT4-ECE2
LocusID (NCBI) 110599583
Atlas_Id 79669
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 184249657 and ends at 184293031 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)EEF1AKMT4-ECE2   53615
Cards
Entrez_Gene (NCBI)EEF1AKMT4-ECE2  110599583  EEF1AKMT4-ECE2 readthrough
AliasesECE-2; ECE2
GeneCards (Weizmann)EEF1AKMT4-ECE2
Ensembl hg19 (Hinxton)ENSG00000284917 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000284917 [Gene_View]  ENSG00000284917 [Sequence]  chr3:184249657-184293031 [Contig_View]  EEF1AKMT4-ECE2 [Vega]
ICGC DataPortalENSG00000284917
TCGA cBioPortalEEF1AKMT4-ECE2
AceView (NCBI)EEF1AKMT4-ECE2
Genatlas (Paris)EEF1AKMT4-ECE2
WikiGenes110599583
SOURCE (Princeton)EEF1AKMT4-ECE2
Genetics Home Reference (NIH)EEF1AKMT4-ECE2
Genomic and cartography
GoldenPath hg38 (UCSC)EEF1AKMT4-ECE2  -     chr3:184249657-184293031 +  3q27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EEF1AKMT4-ECE2  -     3q27.1   [Description]    (hg19-Feb_2009)
GoldenPathEEF1AKMT4-ECE2 - 3q27.1 [CytoView hg19]  EEF1AKMT4-ECE2 - 3q27.1 [CytoView hg38]
ImmunoBaseENSG00000284917
Mapping of homologs : NCBIEEF1AKMT4-ECE2 [Mapview hg19]  EEF1AKMT4-ECE2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF428263 AY359003 BC142950
RefSeq transcript (Entrez)NM_014693
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EEF1AKMT4-ECE2
Cluster EST : UnigeneHs.146161 [ NCBI ]
CGAP (NCI)Hs.146161
Alternative Splicing GalleryENSG00000284917
Gene ExpressionEEF1AKMT4-ECE2 [ NCBI-GEO ]   EEF1AKMT4-ECE2 [ EBI - ARRAY_EXPRESS ]   EEF1AKMT4-ECE2 [ SEEK ]   EEF1AKMT4-ECE2 [ MEM ]
Gene Expression Viewer (FireBrowse)EEF1AKMT4-ECE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)110599583
GTEX Portal (Tissue expression)EEF1AKMT4-ECE2
Human Protein AtlasENSG00000284917-EEF1AKMT4-ECE2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0DPD8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0DPD8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0DPD8
Splice isoforms : SwissVarP0DPD8
PhosPhoSitePlusP0DPD8
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)ECE1/ECE2    MetalloPept_cat_dom_sf    Peptidase_M13    Peptidase_M13_C    Peptidase_M13_N    SAM-dependent_MTases   
Domain families : Pfam (Sanger)Peptidase_M13 (PF01431)    Peptidase_M13_N (PF05649)   
Domain families : Pfam (NCBI)pfam01431    pfam05649   
Conserved Domain (NCBI)EEF1AKMT4-ECE2
DMDM Disease mutations110599583
Blocks (Seattle)EEF1AKMT4-ECE2
SuperfamilyP0DPD8
Human Protein Atlas [tissue]ENSG00000284917-EEF1AKMT4-ECE2 [tissue]
Peptide AtlasP0DPD8
Protein Interaction databases
DIP (DOE-UCLA)P0DPD8
IntAct (EBI)P0DPD8
FunCoupENSG00000284917
BioGRIDEEF1AKMT4-ECE2
STRING (EMBL)EEF1AKMT4-ECE2
ZODIACEEF1AKMT4-ECE2
Ontologies - Pathways
QuickGOP0DPD8
Ontology : AmiGOGolgi membrane  metalloendopeptidase activity  proteolysis  brain development  heart development  methyltransferase activity  cardioblast differentiation  integral component of membrane  transport vesicle membrane  methylation  metal ion binding  
Ontology : EGO-EBIGolgi membrane  metalloendopeptidase activity  proteolysis  brain development  heart development  methyltransferase activity  cardioblast differentiation  integral component of membrane  transport vesicle membrane  methylation  metal ion binding  
NDEx NetworkEEF1AKMT4-ECE2
Atlas of Cancer Signalling NetworkEEF1AKMT4-ECE2
Wikipedia pathwaysEEF1AKMT4-ECE2
Orthology - Evolution
OrthoDB110599583
GeneTree (enSembl)ENSG00000284917
Phylogenetic Trees/Animal Genes : TreeFamEEF1AKMT4-ECE2
HOGENOMP0DPD8
Homologs : HomoloGeneEEF1AKMT4-ECE2
Homology/Alignments : Family Browser (UCSC)EEF1AKMT4-ECE2
Gene fusions - Rearrangements
Fusion : QuiverEEF1AKMT4-ECE2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEEF1AKMT4-ECE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EEF1AKMT4-ECE2
dbVarEEF1AKMT4-ECE2
ClinVarEEF1AKMT4-ECE2
1000_GenomesEEF1AKMT4-ECE2 
Exome Variant ServerEEF1AKMT4-ECE2
ExAC (Exome Aggregation Consortium)ENSG00000284917
GNOMAD BrowserENSG00000284917
Varsome BrowserEEF1AKMT4-ECE2
Genetic variants : HAPMAP110599583
Genomic Variants (DGV)EEF1AKMT4-ECE2 [DGVbeta]
DECIPHEREEF1AKMT4-ECE2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEEF1AKMT4-ECE2 
Mutations
ICGC Data PortalEEF1AKMT4-ECE2 
TCGA Data PortalEEF1AKMT4-ECE2 
Broad Tumor PortalEEF1AKMT4-ECE2
OASIS PortalEEF1AKMT4-ECE2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDEEF1AKMT4-ECE2
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 EEF1AKMT4-ECE2
DgiDB (Drug Gene Interaction Database)EEF1AKMT4-ECE2
DoCM (Curated mutations)EEF1AKMT4-ECE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EEF1AKMT4-ECE2 (select a term)
intoGenEEF1AKMT4-ECE2
Cancer3DEEF1AKMT4-ECE2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETEEF1AKMT4-ECE2
MedgenEEF1AKMT4-ECE2
Genetic Testing Registry EEF1AKMT4-ECE2
NextProtP0DPD8 [Medical]
TSGene110599583
GENETestsEEF1AKMT4-ECE2
Target ValidationEEF1AKMT4-ECE2
Huge Navigator EEF1AKMT4-ECE2 [HugePedia]
snp3D : Map Gene to Disease110599583
BioCentury BCIQEEF1AKMT4-ECE2
ClinGenEEF1AKMT4-ECE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD110599583
Clinical trialEEF1AKMT4-ECE2
Miscellaneous
canSAR (ICR)EEF1AKMT4-ECE2 (select the gene name)
DataMed IndexEEF1AKMT4-ECE2
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEEF1AKMT4-ECE2
EVEXEEF1AKMT4-ECE2
GoPubMedEEF1AKMT4-ECE2
iHOPEEF1AKMT4-ECE2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:26:28 CEST 2019

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