Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   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

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 6970781 and ends at 6976003 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)
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]
Ensembl hg38 (Hinxton) [Gene_View]  chr12:6970781-6976003 [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 hg38 (UCSC)EMG1  -     chr12:6970781-6976003 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMG1  -     12p13.31   [Description]    (hg19-Feb_2009)
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_001320049 NM_006331
RefSeq genomic (Entrez)
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]
GenevestigatorExpression 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
PDB (SRS)5FAI   
PDB (PDBSum)5FAI   
PDB (IMB)5FAI   
PDB (RSDB)5FAI   
Structural Biology KnowledgeBase5FAI   
SCOP (Structural Classification of Proteins)5FAI   
CATH (Classification of proteins structures)5FAI   
SuperfamilyQ92979
Peptide AtlasQ92979
HPRD12803
IPIIPI00025347   
Protein Interaction databases
DIP (DOE-UCLA)Q92979
IntAct (EBI)Q92979
BioGRIDEMG1
STRING (EMBL)EMG1
ZODIACEMG1
Ontologies - Pathways
QuickGOQ92979
Ontology : AmiGOmaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  RNA binding  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  nucleolus  nucleolus  cytoplasm  rRNA processing  rRNA processing  rRNA binding  small-subunit processome  ribosomal small subunit biogenesis  rRNA (pseudouridine) methyltransferase activity  rRNA base methylation  
Ontology : EGO-EBImaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  RNA binding  RNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleolus  nucleolus  nucleolus  cytoplasm  rRNA processing  rRNA processing  rRNA binding  small-subunit processome  ribosomal small subunit biogenesis  rRNA (pseudouridine) methyltransferase activity  rRNA base methylation  
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
Fusion: Tumor Portal EMG1
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)
Genetic variants : HAPMAP10436
Genomic Variants (DGV)EMG1 [DGVbeta]
DECIPHEREMG1 [patients]   [syndromes]   [variants]   [genes]  
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
Target ValidationEMG1
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
PubMed34 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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 11:45:44 CET 2017

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.