Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ENOSF1 (enolase superfamily member 1)

Identity

Alias_symbol (synonym)HSRTSBETA
rTS
TYMSAS
Other aliasRTS
HGNC (Hugo) ENOSF1
LocusID (NCBI) 55556
Atlas_Id 54284
Location 18p11.32  [Link to chromosome band 18p11]
Location_base_pair Starts at 670324 and ends at 712662 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DLGAP1 (18p11.31) / ENOSF1 (18p11.32)ENOSF1 (18p11.32) / RAB1A (2p14)ENOSF1 (18p11.32) / TRIM54 (2p23.3)
YES1 (18p11.32) / ENOSF1 (18p11.32)DLGAP1 18p11.31 / ENOSF1 18p11.32

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)ENOSF1   30365
Cards
Entrez_Gene (NCBI)ENOSF1  55556  enolase superfamily member 1
AliasesRTS; TYMSAS
GeneCards (Weizmann)ENOSF1
Ensembl hg19 (Hinxton)ENSG00000132199 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132199 [Gene_View]  chr18:670324-712662 [Contig_View]  ENOSF1 [Vega]
ICGC DataPortalENSG00000132199
TCGA cBioPortalENOSF1
AceView (NCBI)ENOSF1
Genatlas (Paris)ENOSF1
WikiGenes55556
SOURCE (Princeton)ENOSF1
Genetics Home Reference (NIH)ENOSF1
Genomic and cartography
GoldenPath hg38 (UCSC)ENOSF1  -     chr18:670324-712662 -  18p11.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ENOSF1  -     18p11.32   [Description]    (hg19-Feb_2009)
EnsemblENOSF1 - 18p11.32 [CytoView hg19]  ENOSF1 - 18p11.32 [CytoView hg38]
Mapping of homologs : NCBIENOSF1 [Mapview hg19]  ENOSF1 [Mapview hg38]
OMIM607427   
Gene and transcription
Genbank (Entrez)AK093873 AK127219 AK127818 AK292780 AK295850
RefSeq transcript (Entrez)NM_001126123 NM_001318759 NM_001318760 NM_017512 NM_202758
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ENOSF1
Cluster EST : UnigeneHs.732707 [ NCBI ]
CGAP (NCI)Hs.732707
Alternative Splicing GalleryENSG00000132199
Gene ExpressionENOSF1 [ NCBI-GEO ]   ENOSF1 [ EBI - ARRAY_EXPRESS ]   ENOSF1 [ SEEK ]   ENOSF1 [ MEM ]
Gene Expression Viewer (FireBrowse)ENOSF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55556
GTEX Portal (Tissue expression)ENOSF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L5Y1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L5Y1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L5Y1
Splice isoforms : SwissVarQ7L5Y1
PhosPhoSitePlusQ7L5Y1
Domaine pattern : Prosite (Expaxy)MR_MLE_2 (PS00909)   
Domains : Interpro (EBI)Enolase_C-like    Enolase_N-like    Mandel_Rmase/mucon_lact_enz_CS    Mandelate_racemase_C    Mandelate_racemase_N_dom   
Domain families : Pfam (Sanger)MR_MLE_C (PF13378)    MR_MLE_N (PF02746)   
Domain families : Pfam (NCBI)pfam13378    pfam02746   
Domain families : Smart (EMBL)MR_MLE (SM00922)  
Conserved Domain (NCBI)ENOSF1
DMDM Disease mutations55556
Blocks (Seattle)ENOSF1
PDB (SRS)4A35   
PDB (PDBSum)4A35   
PDB (IMB)4A35   
PDB (RSDB)4A35   
Structural Biology KnowledgeBase4A35   
SCOP (Structural Classification of Proteins)4A35   
CATH (Classification of proteins structures)4A35   
SuperfamilyQ7L5Y1
Human Protein AtlasENSG00000132199
Peptide AtlasQ7L5Y1
IPIIPI00300601   IPI00184190   IPI00890831   IPI00647004   IPI00644507   IPI00418794   
Protein Interaction databases
DIP (DOE-UCLA)Q7L5Y1
IntAct (EBI)Q7L5Y1
FunCoupENSG00000132199
BioGRIDENOSF1
STRING (EMBL)ENOSF1
ZODIACENOSF1
Ontologies - Pathways
QuickGOQ7L5Y1
Ontology : AmiGOmagnesium ion binding  cellular_component  mitochondrion  cellular amino acid catabolic process  isomerase activity  cellular carbohydrate catabolic process  L-fuconate dehydratase activity  
Ontology : EGO-EBImagnesium ion binding  cellular_component  mitochondrion  cellular amino acid catabolic process  isomerase activity  cellular carbohydrate catabolic process  L-fuconate dehydratase activity  
NDEx NetworkENOSF1
Atlas of Cancer Signalling NetworkENOSF1
Wikipedia pathwaysENOSF1
Orthology - Evolution
OrthoDB55556
GeneTree (enSembl)ENSG00000132199
Phylogenetic Trees/Animal Genes : TreeFamENOSF1
HOVERGENQ7L5Y1
HOGENOMQ7L5Y1
Homologs : HomoloGeneENOSF1
Homology/Alignments : Family Browser (UCSC)ENOSF1
Gene fusions - Rearrangements
Fusion : MitelmanDLGAP1/ENOSF1 [18p11.31/18p11.32]  [t(18;18)(p11;p11)]  
Fusion : MitelmanYES1/ENOSF1 [18p11.32/18p11.32]  [dup(18)(p11p11)]  
Fusion: TCGADLGAP1 18p11.31 ENOSF1 18p11.32 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerENOSF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ENOSF1
dbVarENOSF1
ClinVarENOSF1
1000_GenomesENOSF1 
Exome Variant ServerENOSF1
ExAC (Exome Aggregation Consortium)ENOSF1 (select the gene name)
Genetic variants : HAPMAP55556
Genomic Variants (DGV)ENOSF1 [DGVbeta]
DECIPHERENOSF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisENOSF1 
Mutations
ICGC Data PortalENOSF1 
TCGA Data PortalENOSF1 
Broad Tumor PortalENOSF1
OASIS PortalENOSF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICENOSF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDENOSF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ENOSF1
DgiDB (Drug Gene Interaction Database)ENOSF1
DoCM (Curated mutations)ENOSF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ENOSF1 (select a term)
intoGenENOSF1
Cancer3DENOSF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607427   
Orphanet
MedgenENOSF1
Genetic Testing Registry ENOSF1
NextProtQ7L5Y1 [Medical]
TSGene55556
GENETestsENOSF1
Huge Navigator ENOSF1 [HugePedia]
snp3D : Map Gene to Disease55556
BioCentury BCIQENOSF1
ClinGenENOSF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55556
Chemical/Pharm GKB GenePA134897613
Clinical trialENOSF1
Miscellaneous
canSAR (ICR)ENOSF1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineENOSF1
EVEXENOSF1
GoPubMedENOSF1
iHOPENOSF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:14:43 CEST 2017

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