Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ETF1 (eukaryotic translation termination factor 1)

Identity

Alias_namesSUP45L1
ERF1
ERF
Alias_symbol (synonym)eRF1
TB3-1
RF1
Other aliasD5S1995
HGNC (Hugo) ETF1
LocusID (NCBI) 2107
Atlas_Id 40501
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 138506093 and ends at 138543300 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)
HLA-E (6p21.33) / ETF1 (5q31.2)LOC100507412 (-) / ETF1 (5q31.2)

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)ETF1   3477
Cards
Entrez_Gene (NCBI)ETF1  2107  eukaryotic translation termination factor 1
AliasesD5S1995; ERF; ERF1; RF1; 
SUP45L1; TB3-1
GeneCards (Weizmann)ETF1
Ensembl hg19 (Hinxton)ENSG00000120705 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120705 [Gene_View]  ENSG00000120705 [Sequence]  chr5:138506093-138543300 [Contig_View]  ETF1 [Vega]
ICGC DataPortalENSG00000120705
TCGA cBioPortalETF1
AceView (NCBI)ETF1
Genatlas (Paris)ETF1
WikiGenes2107
SOURCE (Princeton)ETF1
Genetics Home Reference (NIH)ETF1
Genomic and cartography
GoldenPath hg38 (UCSC)ETF1  -     chr5:138506093-138543300 -  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ETF1  -     5q31.2   [Description]    (hg19-Feb_2009)
GoldenPathETF1 - 5q31.2 [CytoView hg19]  ETF1 - 5q31.2 [CytoView hg38]
ImmunoBaseENSG00000120705
Mapping of homologs : NCBIETF1 [Mapview hg19]  ETF1 [Mapview hg38]
OMIM600285   
Gene and transcription
Genbank (Entrez)AK302364 AK309875 AK312510 AL553004 AW131045
RefSeq transcript (Entrez)NM_001256302 NM_001282185 NM_001291974 NM_001291975 NM_001364160 NM_004730
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ETF1
Alternative Splicing GalleryENSG00000120705
Gene ExpressionETF1 [ NCBI-GEO ]   ETF1 [ EBI - ARRAY_EXPRESS ]   ETF1 [ SEEK ]   ETF1 [ MEM ]
Gene Expression Viewer (FireBrowse)ETF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2107
GTEX Portal (Tissue expression)ETF1
Human Protein AtlasENSG00000120705-ETF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP62495   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP62495  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP62495
Splice isoforms : SwissVarP62495
PhosPhoSitePlusP62495
Domains : Interpro (EBI)eFR1_2_sf    eRF1_1_Pelota    eRF1_2    eRF1_3    L30e-like    Peptide_chain-rel_eRF1/aRF1    Release_factor_eRF1/aRF1_N   
Domain families : Pfam (Sanger)eRF1_1 (PF03463)    eRF1_2 (PF03464)    eRF1_3 (PF03465)   
Domain families : Pfam (NCBI)pfam03463    pfam03464    pfam03465   
Domain families : Smart (EMBL)eRF1_1 (SM01194)  
Conserved Domain (NCBI)ETF1
DMDM Disease mutations2107
Blocks (Seattle)ETF1
PDB (RSDB)1DT9    2HST    2KTU    2KTV    2LGT    2LLX    2MQ6    2MQ9    3E1Y    3J5Y    3JAG    3JAH    3JAI    4D5N    4D61    5A8L    5LZT    5LZU    5LZV    6D90    6IP8   
PDB Europe1DT9    2HST    2KTU    2KTV    2LGT    2LLX    2MQ6    2MQ9    3E1Y    3J5Y    3JAG    3JAH    3JAI    4D5N    4D61    5A8L    5LZT    5LZU    5LZV    6D90    6IP8   
PDB (PDBSum)1DT9    2HST    2KTU    2KTV    2LGT    2LLX    2MQ6    2MQ9    3E1Y    3J5Y    3JAG    3JAH    3JAI    4D5N    4D61    5A8L    5LZT    5LZU    5LZV    6D90    6IP8   
PDB (IMB)1DT9    2HST    2KTU    2KTV    2LGT    2LLX    2MQ6    2MQ9    3E1Y    3J5Y    3JAG    3JAH    3JAI    4D5N    4D61    5A8L    5LZT    5LZU    5LZV    6D90    6IP8   
Structural Biology KnowledgeBase1DT9    2HST    2KTU    2KTV    2LGT    2LLX    2MQ6    2MQ9    3E1Y    3J5Y    3JAG    3JAH    3JAI    4D5N    4D61    5A8L    5LZT    5LZU    5LZV    6D90    6IP8   
SCOP (Structural Classification of Proteins)1DT9    2HST    2KTU    2KTV    2LGT    2LLX    2MQ6    2MQ9    3E1Y    3J5Y    3JAG    3JAH    3JAI    4D5N    4D61    5A8L    5LZT    5LZU    5LZV    6D90    6IP8   
CATH (Classification of proteins structures)1DT9    2HST    2KTU    2KTV    2LGT    2LLX    2MQ6    2MQ9    3E1Y    3J5Y    3JAG    3JAH    3JAI    4D5N    4D61    5A8L    5LZT    5LZU    5LZV    6D90    6IP8   
SuperfamilyP62495
Human Protein Atlas [tissue]ENSG00000120705-ETF1 [tissue]
Peptide AtlasP62495
HPRD02616
IPIIPI00429191   IPI00968296   IPI00967460   IPI00964335   IPI00967974   
Protein Interaction databases
DIP (DOE-UCLA)P62495
IntAct (EBI)P62495
FunCoupENSG00000120705
BioGRIDETF1
STRING (EMBL)ETF1
ZODIACETF1
Ontologies - Pathways
QuickGOP62495
Ontology : AmiGOnuclear-transcribed mRNA catabolic process, nonsense-mediated decay  cytoplasmic translational termination  RNA binding  translation release factor activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  regulation of translational termination  protein methylation  translation termination factor activity  translation release factor activity, codon specific  translation release factor complex  ribosome binding  sequence-specific mRNA binding  sequence-specific mRNA binding  
Ontology : EGO-EBInuclear-transcribed mRNA catabolic process, nonsense-mediated decay  cytoplasmic translational termination  RNA binding  translation release factor activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  regulation of translational termination  protein methylation  translation termination factor activity  translation release factor activity, codon specific  translation release factor complex  ribosome binding  sequence-specific mRNA binding  sequence-specific mRNA binding  
Pathways : KEGGmRNA surveillance pathway   
NDEx NetworkETF1
Atlas of Cancer Signalling NetworkETF1
Wikipedia pathwaysETF1
Orthology - Evolution
OrthoDB2107
GeneTree (enSembl)ENSG00000120705
Phylogenetic Trees/Animal Genes : TreeFamETF1
HOGENOMP62495
Homologs : HomoloGeneETF1
Homology/Alignments : Family Browser (UCSC)ETF1
Gene fusions - Rearrangements
Fusion : QuiverETF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerETF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ETF1
dbVarETF1
ClinVarETF1
1000_GenomesETF1 
Exome Variant ServerETF1
ExAC (Exome Aggregation Consortium)ENSG00000120705
GNOMAD BrowserENSG00000120705
Varsome BrowserETF1
Genetic variants : HAPMAP2107
Genomic Variants (DGV)ETF1 [DGVbeta]
DECIPHERETF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisETF1 
Mutations
ICGC Data PortalETF1 
TCGA Data PortalETF1 
Broad Tumor PortalETF1
OASIS PortalETF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICETF1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DETF1
Mutations and Diseases : HGMDETF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ETF1
DgiDB (Drug Gene Interaction Database)ETF1
DoCM (Curated mutations)ETF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ETF1 (select a term)
intoGenETF1
Cancer3DETF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600285   
Orphanet
DisGeNETETF1
MedgenETF1
Genetic Testing Registry ETF1
NextProtP62495 [Medical]
TSGene2107
GENETestsETF1
Target ValidationETF1
Huge Navigator ETF1 [HugePedia]
snp3D : Map Gene to Disease2107
BioCentury BCIQETF1
ClinGenETF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2107
Chemical/Pharm GKB GenePA27893
Clinical trialETF1
Miscellaneous
canSAR (ICR)ETF1 (select the gene name)
HarmonizomeETF1
DataMed IndexETF1
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineETF1
EVEXETF1
GoPubMedETF1
iHOPETF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Mar 11 19:06:00 CET 2020
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