Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ESF1 (ESF1 nucleolar pre-rRNA processing protein homolog)

Identity

Alias_namesC20orf6
chromosome 20 open reading frame 6
ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)
Alias_symbol (synonym)bA526K24.1
Other aliasABTAP
HDCMC28P
HGNC (Hugo) ESF1
LocusID (NCBI) 51575
Atlas_Id 54290
Location 20p12.1  [Link to chromosome band 20p12]
Location_base_pair Starts at 13694969 and ends at 13765579 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ESF1 (20p12.1) / RNASE1 (14q11.2)LRBA (4q31.3) / ESF1 (20p12.1)RPL26 (17p13.1) / ESF1 (20p12.1)
TASP1 (20p12.1) / ESF1 (20p12.1)LRBA 4q31.3 / ESF1 20p12.1TASP1 20p12.1 / ESF1 20p12.1

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

 


External links

Nomenclature
HGNC (Hugo)ESF1   15898
Cards
Entrez_Gene (NCBI)ESF1  51575  ESF1 nucleolar pre-rRNA processing protein homolog
AliasesABTAP; C20orf6; HDCMC28P; bA526K24.1
GeneCards (Weizmann)ESF1
Ensembl hg19 (Hinxton)ENSG00000089048 [Gene_View]  chr20:13694969-13765579 [Contig_View]  ESF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000089048 [Gene_View]  chr20:13694969-13765579 [Contig_View]  ESF1 [Vega]
ICGC DataPortalENSG00000089048
TCGA cBioPortalESF1
AceView (NCBI)ESF1
Genatlas (Paris)ESF1
WikiGenes51575
SOURCE (Princeton)ESF1
Genetics Home Reference (NIH)ESF1
Genomic and cartography
GoldenPath hg19 (UCSC)ESF1  -     chr20:13694969-13765579 -  20p12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ESF1  -     20p12.1   [Description]    (hg38-Dec_2013)
EnsemblESF1 - 20p12.1 [CytoView hg19]  ESF1 - 20p12.1 [CytoView hg38]
Mapping of homologs : NCBIESF1 [Mapview hg19]  ESF1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF068285 AK000375 AK022369 AK022670 AK074299
RefSeq transcript (Entrez)NM_001276380 NM_016649
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)ESF1
Cluster EST : UnigeneHs.369284 [ NCBI ]
CGAP (NCI)Hs.369284
Alternative Splicing GalleryENSG00000089048
Gene ExpressionESF1 [ NCBI-GEO ]   ESF1 [ EBI - ARRAY_EXPRESS ]   ESF1 [ SEEK ]   ESF1 [ MEM ]
Gene Expression Viewer (FireBrowse)ESF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51575
GTEX Portal (Tissue expression)ESF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H501   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H501  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H501
Splice isoforms : SwissVarQ9H501
PhosPhoSitePlusQ9H501
Domains : Interpro (EBI)NUC153   
Domain families : Pfam (Sanger)NUC153 (PF08159)   
Domain families : Pfam (NCBI)pfam08159   
Conserved Domain (NCBI)ESF1
DMDM Disease mutations51575
Blocks (Seattle)ESF1
SuperfamilyQ9H501
Human Protein AtlasENSG00000089048
Peptide AtlasQ9H501
HPRD10732
IPIIPI00024167   IPI01011926   
Protein Interaction databases
DIP (DOE-UCLA)Q9H501
IntAct (EBI)Q9H501
FunCoupENSG00000089048
BioGRIDESF1
STRING (EMBL)ESF1
ZODIACESF1
Ontologies - Pathways
QuickGOQ9H501
Ontology : AmiGOextracellular space  nucleoplasm  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  poly(A) RNA binding  
Ontology : EGO-EBIextracellular space  nucleoplasm  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  poly(A) RNA binding  
NDEx NetworkESF1
Atlas of Cancer Signalling NetworkESF1
Wikipedia pathwaysESF1
Orthology - Evolution
OrthoDB51575
GeneTree (enSembl)ENSG00000089048
Phylogenetic Trees/Animal Genes : TreeFamESF1
HOVERGENQ9H501
HOGENOMQ9H501
Homologs : HomoloGeneESF1
Homology/Alignments : Family Browser (UCSC)ESF1
Gene fusions - Rearrangements
Fusion : MitelmanLRBA/ESF1 [4q31.3/20p12.1]  [t(4;20)(q31;p12)]  
Fusion : MitelmanRPL26/ESF1 [17p13.1/20p12.1]  [t(17;20)(p13;p12)]  
Fusion : MitelmanTASP1/ESF1 [20p12.1/20p12.1]  [t(20;20)(p12;p12)]  
Fusion: TCGALRBA 4q31.3 ESF1 20p12.1 BRCA
Fusion: TCGATASP1 20p12.1 ESF1 20p12.1 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESF1
dbVarESF1
ClinVarESF1
1000_GenomesESF1 
Exome Variant ServerESF1
ExAC (Exome Aggregation Consortium)ESF1 (select the gene name)
Genetic variants : HAPMAP51575
Genomic Variants (DGV)ESF1 [DGVbeta]
DECIPHER (Syndromes)20:13694969-13765579  ENSG00000089048
CONAN: Copy Number AnalysisESF1 
Mutations
ICGC Data PortalESF1 
TCGA Data PortalESF1 
Broad Tumor PortalESF1
OASIS PortalESF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESF1
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 ESF1
DgiDB (Drug Gene Interaction Database)ESF1
DoCM (Curated mutations)ESF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESF1 (select a term)
intoGenESF1
Cancer3DESF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenESF1
Genetic Testing Registry ESF1
NextProtQ9H501 [Medical]
TSGene51575
GENETestsESF1
Huge Navigator ESF1 [HugePedia]
snp3D : Map Gene to Disease51575
BioCentury BCIQESF1
ClinGenESF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51575
Chemical/Pharm GKB GenePA162385420
Clinical trialESF1
Miscellaneous
canSAR (ICR)ESF1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESF1
EVEXESF1
GoPubMedESF1
iHOPESF1
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 : Tue Mar 14 13:05:00 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.