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EMG1 (EMG1 N1-specific pseudouridine methyltransferase)

Identity

Alias_namesEMG1 nucleolar protein homolog (S. cerevisiae)
Alias_symbol (synonym)C2F
NEP1
Grcc2f
Other alias
HGNC (Hugo) EMG1
LocusID (NCBI) 10436
Atlas_Id 62818
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 7079944 and ends at 7085165 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
DHFRL1 (3q11.1) / EMG1 (12p13.31)EMG1 (12p13.31) / EMG1 (12p13.31)EMG1 (12p13.31) / ZNF280D (15q21.3)
HNRNPU (1q44) / EMG1 (12p13.31)MTM1 (Xq28) / EMG1 (12p13.31)SRI (7q21.12) / EMG1 (12p13.31)
YTHDC1 (4q13.2) / EMG1 (12p13.31)

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)EMG1   16912
Cards
Entrez_Gene (NCBI)EMG1  10436  EMG1 N1-specific pseudouridine methyltransferase
AliasesC2F; Grcc2f; NEP1
GeneCards (Weizmann)EMG1
Ensembl hg19 (Hinxton) [Gene_View]  chr12:7079944-7085165 [Contig_View]  EMG1 [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr12:7079944-7085165 [Contig_View]  EMG1 [Vega]
TCGA cBioPortalEMG1
AceView (NCBI)EMG1
Genatlas (Paris)EMG1
WikiGenes10436
SOURCE (Princeton)EMG1
Genetics Home Reference (NIH)EMG1
Genomic and cartography
GoldenPath hg19 (UCSC)EMG1  -     chr12:7079944-7085165 +  12p13.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EMG1  -     12p13.31   [Description]    (hg38-Dec_2013)
EnsemblEMG1 - 12p13.31 [CytoView hg19]  EMG1 - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIEMG1 [Mapview hg19]  EMG1 [Mapview hg38]
OMIM211180   611531   
Gene and transcription
Genbank (Entrez)AA314580 AI394112 AK291597 AK298207 AK298745
RefSeq transcript (Entrez)NM_006331
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_021408 NT_009759 NW_004929382
Consensus coding sequences : CCDS (NCBI)EMG1
Cluster EST : UnigeneHs.744040 [ NCBI ]
CGAP (NCI)Hs.744040
Gene ExpressionEMG1 [ NCBI-GEO ]   EMG1 [ EBI - ARRAY_EXPRESS ]   EMG1 [ SEEK ]   EMG1 [ MEM ]
Gene Expression Viewer (FireBrowse)EMG1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10436
GTEX Portal (Tissue expression)EMG1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92979   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92979  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92979
Splice isoforms : SwissVarQ92979
PhosPhoSitePlusQ92979
Domains : Interpro (EBI)Alpha/beta_knot_MTases    Rbsml_bgen_MeTrfase_EMG1/NEP1   
Domain families : Pfam (Sanger)EMG1 (PF03587)   
Domain families : Pfam (NCBI)pfam03587   
Conserved Domain (NCBI)EMG1
DMDM Disease mutations10436
Blocks (Seattle)EMG1
SuperfamilyQ92979
Peptide AtlasQ92979
HPRD12803
IPIIPI00025347   
Protein Interaction databases
DIP (DOE-UCLA)Q92979
IntAct (EBI)Q92979
BioGRIDEMG1
STRING (EMBL)EMG1
ZODIACEMG1
Ontologies - Pathways
QuickGOQ92979
Ontology : AmiGORNA binding  protein binding  nucleus  nucleolus  cytoplasm  rRNA processing  rRNA binding  rRNA methylation  ribosomal small subunit biogenesis  poly(A) RNA binding  rRNA (pseudouridine) methyltransferase activity  
Ontology : EGO-EBIRNA binding  protein binding  nucleus  nucleolus  cytoplasm  rRNA processing  rRNA binding  rRNA methylation  ribosomal small subunit biogenesis  poly(A) RNA binding  rRNA (pseudouridine) methyltransferase activity  
Pathways : KEGGRibosome biogenesis in eukaryotes   
NDEx NetworkEMG1
Atlas of Cancer Signalling NetworkEMG1
Wikipedia pathwaysEMG1
Orthology - Evolution
OrthoDB10436
Phylogenetic Trees/Animal Genes : TreeFamEMG1
HOVERGENQ92979
HOGENOMQ92979
Homologs : HomoloGeneEMG1
Homology/Alignments : Family Browser (UCSC)EMG1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMG1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMG1
dbVarEMG1
ClinVarEMG1
1000_GenomesEMG1 
Exome Variant ServerEMG1
ExAC (Exome Aggregation Consortium)EMG1 (select the gene name)
Genetic variants : HAPMAP10436
Genomic Variants (DGV)EMG1 [DGVbeta]
DECIPHER (Syndromes)12:7079944-7085165  
CONAN: Copy Number AnalysisEMG1 
Mutations
ICGC Data PortalEMG1 
TCGA Data PortalEMG1 
Broad Tumor PortalEMG1
OASIS PortalEMG1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDEMG1
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 EMG1
DgiDB (Drug Gene Interaction Database)EMG1
DoCM (Curated mutations)EMG1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMG1 (select a term)
intoGenEMG1
Cancer3DEMG1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM211180    611531   
Orphanet1506   
MedgenEMG1
Genetic Testing Registry EMG1
NextProtQ92979 [Medical]
TSGene10436
GENETestsEMG1
Huge Navigator EMG1 [HugePedia]
snp3D : Map Gene to Disease10436
BioCentury BCIQEMG1
ClinGenEMG1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10436
Chemical/Pharm GKB GenePA142671909
Clinical trialEMG1
Miscellaneous
canSAR (ICR)EMG1 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMG1
EVEXEMG1
GoPubMedEMG1
iHOPEMG1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:02:50 CET 2017

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