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ERH (enhancer of rudimentary homolog (Drosophila))

Identity

Other namesDROER
HGNC (Hugo) ERH
LocusID (NCBI) 2079
Atlas_Id 40486
Location 14q24.1  [Link to chromosome band 14q24]
Location_base_pair Starts at 69846840 and ends at 69865021 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ERH (14q24.1) / ELK4 (1q32.1)SETDB2 (13q14.2) / ERH (14q24.1)SETDB2 13q14.2 / ERH 14q24.1

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)ERH   3447
Cards
Entrez_Gene (NCBI)ERH  2079  enhancer of rudimentary homolog (Drosophila)
AliasesDROER
GeneCards (Weizmann)ERH
Ensembl hg19 (Hinxton)ENSG00000100632 [Gene_View]  chr14:69846840-69865021 [Contig_View]  ERH [Vega]
Ensembl hg38 (Hinxton)ENSG00000100632 [Gene_View]  chr14:69846840-69865021 [Contig_View]  ERH [Vega]
ICGC DataPortalENSG00000100632
TCGA cBioPortalERH
AceView (NCBI)ERH
Genatlas (Paris)ERH
WikiGenes2079
SOURCE (Princeton)ERH
Genomic and cartography
GoldenPath hg19 (UCSC)ERH  -     chr14:69846840-69865021 -  14q24.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ERH  -     14q24.1   [Description]    (hg38-Dec_2013)
EnsemblERH - 14q24.1 [CytoView hg19]  ERH - 14q24.1 [CytoView hg38]
Mapping of homologs : NCBIERH [Mapview hg19]  ERH [Mapview hg38]
OMIM601191   
Gene and transcription
Genbank (Entrez)AK130850 AK312186 BC014301 BC071709 BT006877
RefSeq transcript (Entrez)NM_004450
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)ERH
Cluster EST : UnigeneHs.509791 [ NCBI ]
CGAP (NCI)Hs.509791
Alternative Splicing GalleryENSG00000100632
Gene ExpressionERH [ NCBI-GEO ]   ERH [ EBI - ARRAY_EXPRESS ]   ERH [ SEEK ]   ERH [ MEM ]
Gene Expression Viewer (FireBrowse)ERH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2079
GTEX Portal (Tissue expression)ERH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP84090 (Uniprot)
NextProtP84090  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP84090
Splice isoforms : SwissVarP84090 (Swissvar)
PhosPhoSitePlusP84090
Domaine pattern : Prosite (Expaxy)ER (PS01290)   
Domains : Interpro (EBI)Enh_rudimentary   
Domain families : Pfam (Sanger)ER (PF01133)   
Domain families : Pfam (NCBI)pfam01133   
Domain structure : Prodom (Prabi Lyon)Enh_rudimentary (PD008105)   
DMDM Disease mutations2079
Blocks (Seattle)ERH
PDB (SRS)1W9G    2NML   
PDB (PDBSum)1W9G    2NML   
PDB (IMB)1W9G    2NML   
PDB (RSDB)1W9G    2NML   
Structural Biology KnowledgeBase1W9G    2NML   
SCOP (Structural Classification of Proteins)1W9G    2NML   
CATH (Classification of proteins structures)1W9G    2NML   
SuperfamilyP84090
Human Protein AtlasENSG00000100632
Peptide AtlasP84090
HPRD09026
IPIIPI00029631   IPI01025098   
Protein Interaction databases
DIP (DOE-UCLA)P84090
IntAct (EBI)P84090
FunCoupENSG00000100632
BioGRIDERH
STRING (EMBL)ERH
ZODIACERH
Ontologies - Pathways
QuickGOP84090
Ontology : AmiGOosteoblast differentiation  protein binding  nucleobase-containing compound metabolic process  pyrimidine nucleoside metabolic process  pyrimidine nucleotide biosynthetic process  cell cycle  methyl-CpG binding  membrane  midbody  methylosome  poly(A) RNA binding  positive regulation of Notch signaling pathway  
Ontology : EGO-EBIosteoblast differentiation  protein binding  nucleobase-containing compound metabolic process  pyrimidine nucleoside metabolic process  pyrimidine nucleotide biosynthetic process  cell cycle  methyl-CpG binding  membrane  midbody  methylosome  poly(A) RNA binding  positive regulation of Notch signaling pathway  
NDEx Network
Atlas of Cancer Signalling NetworkERH
Wikipedia pathwaysERH
Orthology - Evolution
OrthoDB2079
GeneTree (enSembl)ENSG00000100632
Phylogenetic Trees/Animal Genes : TreeFamERH
Homologs : HomoloGeneERH
Homology/Alignments : Family Browser (UCSC)ERH
Gene fusions - Rearrangements
Fusion: TCGASETDB2 13q14.2 ERH 14q24.1 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerERH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERH
dbVarERH
ClinVarERH
1000_GenomesERH 
Exome Variant ServerERH
ExAC (Exome Aggregation Consortium)ERH (select the gene name)
Genetic variants : HAPMAP2079
Genomic Variants (DGV)ERH [DGVbeta]
Mutations
ICGC Data PortalERH 
TCGA Data PortalERH 
Broad Tumor PortalERH
OASIS PortalERH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERH 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ERH
DgiDB (Drug Gene Interaction Database)ERH
DoCM (Curated mutations)ERH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERH (select a term)
intoGenERH
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:69846840-69865021  ENSG00000100632
CONAN: Copy Number AnalysisERH 
Mutations and Diseases : HGMDERH
OMIM601191   
MedgenERH
Genetic Testing Registry ERH
NextProtP84090 [Medical]
TSGene2079
GENETestsERH
Huge Navigator ERH [HugePedia]
snp3D : Map Gene to Disease2079
BioCentury BCIQERH
ClinGenERH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2079
Chemical/Pharm GKB GenePA27859
Clinical trialERH
Miscellaneous
canSAR (ICR)ERH (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERH
EVEXERH
GoPubMedERH
iHOPERH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 9 19:02:18 CEST 2016

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