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EME1 (essential meiotic structure-specific endonuclease 1)

Identity

Alias_namesessential meiotic endonuclease 1 homolog 1 (S. pombe)
Alias_symbol (synonym)FLJ31364
MMS4L
SLX2A
Other alias
HGNC (Hugo) EME1
LocusID (NCBI) 146956
Atlas_Id 43242
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50373220 and ends at 50381459 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DUSP14 (17q12) / EME1 (17q21.33)TMPRSS6 (22q12.3) / EME1 (17q21.33)DUSP14 17q12 / EME1 17q21.33
TMPRSS6 22q12.3 / EME1 17q21.33

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)EME1   24965
Cards
Entrez_Gene (NCBI)EME1  146956  essential meiotic structure-specific endonuclease 1
AliasesMMS4L; SLX2A
GeneCards (Weizmann)EME1
Ensembl hg19 (Hinxton)ENSG00000154920 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154920 [Gene_View]  chr17:50373220-50381459 [Contig_View]  EME1 [Vega]
ICGC DataPortalENSG00000154920
TCGA cBioPortalEME1
AceView (NCBI)EME1
Genatlas (Paris)EME1
WikiGenes146956
SOURCE (Princeton)EME1
Genetics Home Reference (NIH)EME1
Genomic and cartography
GoldenPath hg38 (UCSC)EME1  -     chr17:50373220-50381459 +  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EME1  -     17q21.33   [Description]    (hg19-Feb_2009)
EnsemblEME1 - 17q21.33 [CytoView hg19]  EME1 - 17q21.33 [CytoView hg38]
Mapping of homologs : NCBIEME1 [Mapview hg19]  EME1 [Mapview hg38]
OMIM610885   
Gene and transcription
Genbank (Entrez)AK021607 AK055926 AK308275 BC016470 DA006645
RefSeq transcript (Entrez)NM_001166131 NM_152463
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EME1
Cluster EST : UnigeneHs.514330 [ NCBI ]
CGAP (NCI)Hs.514330
Alternative Splicing GalleryENSG00000154920
Gene ExpressionEME1 [ NCBI-GEO ]   EME1 [ EBI - ARRAY_EXPRESS ]   EME1 [ SEEK ]   EME1 [ MEM ]
Gene Expression Viewer (FireBrowse)EME1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)146956
GTEX Portal (Tissue expression)EME1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96AY2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96AY2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96AY2
Splice isoforms : SwissVarQ96AY2
Catalytic activity : Enzyme3.1.22.- [ Enzyme-Expasy ]   3.1.22.-3.1.22.- [ IntEnz-EBI ]   3.1.22.- [ BRENDA ]   3.1.22.- [ KEGG ]   
PhosPhoSitePlusQ96AY2
Domains : Interpro (EBI)ERCC4_domain    Mms4/EME1/EME2   
Domain families : Pfam (Sanger)ERCC4 (PF02732)   
Domain families : Pfam (NCBI)pfam02732   
Domain families : Smart (EMBL)ERCC4 (SM00891)  
Conserved Domain (NCBI)EME1
DMDM Disease mutations146956
Blocks (Seattle)EME1
PDB (SRS)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
PDB (PDBSum)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
PDB (IMB)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
PDB (RSDB)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
Structural Biology KnowledgeBase2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
SCOP (Structural Classification of Proteins)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
CATH (Classification of proteins structures)2ZIU    2ZIV    2ZIW    2ZIX    4P0P    4P0Q    4P0R    4P0S   
SuperfamilyQ96AY2
Human Protein AtlasENSG00000154920
Peptide AtlasQ96AY2
IPIIPI00718899   IPI00073193   IPI00967651   IPI00964083   IPI00964958   
Protein Interaction databases
DIP (DOE-UCLA)Q96AY2
IntAct (EBI)Q96AY2
FunCoupENSG00000154920
BioGRIDEME1
STRING (EMBL)EME1
ZODIACEME1
Ontologies - Pathways
QuickGOQ96AY2
Ontology : AmiGOresolution of meiotic recombination intermediates  nuclear chromatin  DNA binding  endodeoxyribonuclease activity  protein binding  nucleoplasm  nuclear heterochromatin  nucleolus  double-strand break repair  crossover junction endodeoxyribonuclease activity  replication fork processing  intra-S DNA damage checkpoint  interstrand cross-link repair  metal ion binding  Holliday junction resolvase complex  response to intra-S DNA damage checkpoint signaling  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIresolution of meiotic recombination intermediates  nuclear chromatin  DNA binding  endodeoxyribonuclease activity  protein binding  nucleoplasm  nuclear heterochromatin  nucleolus  double-strand break repair  crossover junction endodeoxyribonuclease activity  replication fork processing  intra-S DNA damage checkpoint  interstrand cross-link repair  metal ion binding  Holliday junction resolvase complex  response to intra-S DNA damage checkpoint signaling  nucleic acid phosphodiester bond hydrolysis  
Pathways : KEGGHomologous recombination    Fanconi anemia pathway   
NDEx NetworkEME1
Atlas of Cancer Signalling NetworkEME1
Wikipedia pathwaysEME1
Orthology - Evolution
OrthoDB146956
GeneTree (enSembl)ENSG00000154920
Phylogenetic Trees/Animal Genes : TreeFamEME1
HOVERGENQ96AY2
HOGENOMQ96AY2
Homologs : HomoloGeneEME1
Homology/Alignments : Family Browser (UCSC)EME1
Gene fusions - Rearrangements
Fusion : MitelmanDUSP14/EME1 [17q12/17q21.33]  [t(17;17)(q12;q21)]  
Fusion : MitelmanTMPRSS6/EME1 [22q12.3/17q21.33]  [t(17;22)(q21;q12)]  
Fusion: TCGADUSP14 17q12 EME1 17q21.33 BRCA
Fusion: TCGATMPRSS6 22q12.3 EME1 17q21.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEME1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EME1
dbVarEME1
ClinVarEME1
1000_GenomesEME1 
Exome Variant ServerEME1
ExAC (Exome Aggregation Consortium)EME1 (select the gene name)
Genetic variants : HAPMAP146956
Genomic Variants (DGV)EME1 [DGVbeta]
DECIPHEREME1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEME1 
Mutations
ICGC Data PortalEME1 
TCGA Data PortalEME1 
Broad Tumor PortalEME1
OASIS PortalEME1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEME1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEME1
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 EME1
DgiDB (Drug Gene Interaction Database)EME1
DoCM (Curated mutations)EME1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EME1 (select a term)
intoGenEME1
Cancer3DEME1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610885   
Orphanet
MedgenEME1
Genetic Testing Registry EME1
NextProtQ96AY2 [Medical]
TSGene146956
GENETestsEME1
Target ValidationEME1
Huge Navigator EME1 [HugePedia]
snp3D : Map Gene to Disease146956
BioCentury BCIQEME1
ClinGenEME1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD146956
Chemical/Pharm GKB GenePA134904115
Clinical trialEME1
Miscellaneous
canSAR (ICR)EME1 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEME1
EVEXEME1
GoPubMedEME1
iHOPEME1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:32:32 CEST 2017

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