Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EEFSEC (eukaryotic elongation factor, selenocysteine-tRNA specific)

Identity

Alias_symbol (synonym)SELB
EFSEC
eEFSec
Other alias
HGNC (Hugo) EEFSEC
LocusID (NCBI) 60678
Atlas_Id 47554
Location 3q21.3  [Link to chromosome band 3q21]
Location_base_pair Starts at 128153457 and ends at 128408646 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)
EEFSEC (3q21.3) / RPS27A (2p16.1)KMT2A (11q23.3) / EEFSEC (3q21.3)UBAP2L (1q21.3) / EEFSEC (3q21.3)
KMT2A 11q23.3 / EEFSEC 3q21.3UBAP2L 1q21.3 / EEFSEC 3q21.3

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(3;11)(q21;q23) KMT2A/EEFSEC

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;3)(q21;q21) UBAP2L/EEFSEC

External links

Nomenclature
HGNC (Hugo)EEFSEC   24614
Cards
Entrez_Gene (NCBI)EEFSEC  60678  eukaryotic elongation factor, selenocysteine-tRNA specific
AliasesEFSEC; SELB
GeneCards (Weizmann)EEFSEC
Ensembl hg19 (Hinxton)ENSG00000132394 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132394 [Gene_View]  ENSG00000132394 [Sequence]  chr3:128153457-128408646 [Contig_View]  EEFSEC [Vega]
ICGC DataPortalENSG00000132394
TCGA cBioPortalEEFSEC
AceView (NCBI)EEFSEC
Genatlas (Paris)EEFSEC
WikiGenes60678
SOURCE (Princeton)EEFSEC
Genetics Home Reference (NIH)EEFSEC
Genomic and cartography
GoldenPath hg38 (UCSC)EEFSEC  -     chr3:128153457-128408646 +  3q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EEFSEC  -     3q21.3   [Description]    (hg19-Feb_2009)
GoldenPathEEFSEC - 3q21.3 [CytoView hg19]  EEFSEC - 3q21.3 [CytoView hg38]
ImmunoBaseENSG00000132394
Mapping of homologs : NCBIEEFSEC [Mapview hg19]  EEFSEC [Mapview hg38]
OMIM607695   
Gene and transcription
Genbank (Entrez)AF268872 BC007933 BG420135 DB454660
RefSeq transcript (Entrez)NM_021937
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EEFSEC
Cluster EST : UnigeneHs.477498 [ NCBI ]
CGAP (NCI)Hs.477498
Alternative Splicing GalleryENSG00000132394
Gene ExpressionEEFSEC [ NCBI-GEO ]   EEFSEC [ EBI - ARRAY_EXPRESS ]   EEFSEC [ SEEK ]   EEFSEC [ MEM ]
Gene Expression Viewer (FireBrowse)EEFSEC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60678
GTEX Portal (Tissue expression)EEFSEC
Human Protein AtlasENSG00000132394-EEFSEC [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP57772   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP57772  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP57772
Splice isoforms : SwissVarP57772
PhosPhoSitePlusP57772
Domaine pattern : Prosite (Expaxy)G_TR_2 (PS51722)   
Domains : Interpro (EBI)P-loop_NTPase    TF_GTP-bd_dom    Transl_B-barrel_sf   
Domain families : Pfam (Sanger)GTP_EFTU (PF00009)   
Domain families : Pfam (NCBI)pfam00009   
Conserved Domain (NCBI)EEFSEC
DMDM Disease mutations60678
Blocks (Seattle)EEFSEC
PDB (RSDB)5IZK    5IZL    5IZM   
PDB Europe5IZK    5IZL    5IZM   
PDB (PDBSum)5IZK    5IZL    5IZM   
PDB (IMB)5IZK    5IZL    5IZM   
Structural Biology KnowledgeBase5IZK    5IZL    5IZM   
SCOP (Structural Classification of Proteins)5IZK    5IZL    5IZM   
CATH (Classification of proteins structures)5IZK    5IZL    5IZM   
SuperfamilyP57772
Human Protein Atlas [tissue]ENSG00000132394-EEFSEC [tissue]
Peptide AtlasP57772
HPRD07409
IPIIPI00028050   IPI00789634   
Protein Interaction databases
DIP (DOE-UCLA)P57772
IntAct (EBI)P57772
FunCoupENSG00000132394
BioGRIDEEFSEC
STRING (EMBL)EEFSEC
ZODIACEEFSEC
Ontologies - Pathways
QuickGOP57772
Ontology : AmiGOtRNA binding  selenocysteine incorporation  translation elongation factor activity  GTPase activity  GTP binding  nucleus  cytoplasm  translational elongation  selenocysteine insertion sequence binding  ribonucleoprotein complex binding  ribonucleoprotein complex  
Ontology : EGO-EBItRNA binding  selenocysteine incorporation  translation elongation factor activity  GTPase activity  GTP binding  nucleus  cytoplasm  translational elongation  selenocysteine insertion sequence binding  ribonucleoprotein complex binding  ribonucleoprotein complex  
NDEx NetworkEEFSEC
Atlas of Cancer Signalling NetworkEEFSEC
Wikipedia pathwaysEEFSEC
Orthology - Evolution
OrthoDB60678
GeneTree (enSembl)ENSG00000132394
Phylogenetic Trees/Animal Genes : TreeFamEEFSEC
HOGENOMP57772
Homologs : HomoloGeneEEFSEC
Homology/Alignments : Family Browser (UCSC)EEFSEC
Gene fusions - Rearrangements
Fusion : MitelmanUBAP2L/EEFSEC [1q21.3/3q21.3]  [t(1;3)(q21;q21)]  
Fusion PortalUBAP2L 1q21.3 EEFSEC 3q21.3 LUSC
Fusion : QuiverEEFSEC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEEFSEC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EEFSEC
dbVarEEFSEC
ClinVarEEFSEC
1000_GenomesEEFSEC 
Exome Variant ServerEEFSEC
ExAC (Exome Aggregation Consortium)ENSG00000132394
GNOMAD BrowserENSG00000132394
Varsome BrowserEEFSEC
Genetic variants : HAPMAP60678
Genomic Variants (DGV)EEFSEC [DGVbeta]
DECIPHEREEFSEC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEEFSEC 
Mutations
ICGC Data PortalEEFSEC 
TCGA Data PortalEEFSEC 
Broad Tumor PortalEEFSEC
OASIS PortalEEFSEC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEEFSEC  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEEFSEC
Mutations and Diseases : HGMDEEFSEC
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch EEFSEC
DgiDB (Drug Gene Interaction Database)EEFSEC
DoCM (Curated mutations)EEFSEC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EEFSEC (select a term)
intoGenEEFSEC
Cancer3DEEFSEC(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607695   
Orphanet
DisGeNETEEFSEC
MedgenEEFSEC
Genetic Testing Registry EEFSEC
NextProtP57772 [Medical]
TSGene60678
GENETestsEEFSEC
Target ValidationEEFSEC
Huge Navigator EEFSEC [HugePedia]
snp3D : Map Gene to Disease60678
BioCentury BCIQEEFSEC
ClinGenEEFSEC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60678
Chemical/Pharm GKB GenePA142671916
Clinical trialEEFSEC
Miscellaneous
canSAR (ICR)EEFSEC (select the gene name)
DataMed IndexEEFSEC
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEEFSEC
EVEXEEFSEC
GoPubMedEEFSEC
iHOPEEFSEC
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 Nov 13 17:41:29 CET 2019
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