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MGME1 (mitochondrial genome maintenance exonuclease 1)

Identity

Alias_namesC20orf72
chromosome 20 open reading frame 72
Alias_symbol (synonym)bA504H3.4
DDK1
Other aliasMTDPS11
HGNC (Hugo) MGME1
LocusID (NCBI) 92667
Atlas_Id 53146
Location 20p11.23  [Link to chromosome band 20p11]
Location_base_pair Starts at 17968891 and ends at 17991122 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACACA (17q12) / MGME1 (20p11.23)ASH2L (8p11.23) / MGME1 (20p11.23)RAB28 (4p15.33) / MGME1 (20p11.23)

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)MGME1   16205
Cards
Entrez_Gene (NCBI)MGME1  92667  mitochondrial genome maintenance exonuclease 1
AliasesC20orf72; DDK1; MTDPS11; bA504H3.4
GeneCards (Weizmann)MGME1
Ensembl hg19 (Hinxton)ENSG00000125871 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125871 [Gene_View]  chr20:17968891-17991122 [Contig_View]  MGME1 [Vega]
ICGC DataPortalENSG00000125871
TCGA cBioPortalMGME1
AceView (NCBI)MGME1
Genatlas (Paris)MGME1
WikiGenes92667
SOURCE (Princeton)MGME1
Genetics Home Reference (NIH)MGME1
Genomic and cartography
GoldenPath hg38 (UCSC)MGME1  -     chr20:17968891-17991122 +  20p11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MGME1  -     20p11.23   [Description]    (hg19-Feb_2009)
EnsemblMGME1 - 20p11.23 [CytoView hg19]  MGME1 - 20p11.23 [CytoView hg38]
Mapping of homologs : NCBIMGME1 [Mapview hg19]  MGME1 [Mapview hg38]
OMIM615076   615084   
Gene and transcription
Genbank (Entrez)AF306684 AF306685 AF306686 AK027503 AK309563
RefSeq transcript (Entrez)NM_001310338 NM_001310339 NM_052865
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MGME1
Cluster EST : UnigeneHs.320823 [ NCBI ]
CGAP (NCI)Hs.320823
Alternative Splicing GalleryENSG00000125871
Gene ExpressionMGME1 [ NCBI-GEO ]   MGME1 [ EBI - ARRAY_EXPRESS ]   MGME1 [ SEEK ]   MGME1 [ MEM ]
Gene Expression Viewer (FireBrowse)MGME1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92667
GTEX Portal (Tissue expression)MGME1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQP7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQP7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQP7
Splice isoforms : SwissVarQ9BQP7
PhosPhoSitePlusQ9BQP7
Domains : Interpro (EBI)MGME1    Restrct_endonuc-II-like   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MGME1
DMDM Disease mutations92667
Blocks (Seattle)MGME1
SuperfamilyQ9BQP7
Human Protein AtlasENSG00000125871
Peptide AtlasQ9BQP7
HPRD12783
IPIIPI00001287   IPI00514321   IPI00514791   
Protein Interaction databases
DIP (DOE-UCLA)Q9BQP7
IntAct (EBI)Q9BQP7
FunCoupENSG00000125871
BioGRIDMGME1
STRING (EMBL)MGME1
ZODIACMGME1
Ontologies - Pathways
QuickGOQ9BQP7
Ontology : AmiGOmitochondrial genome maintenance  DNA binding  mitochondrion  mitochondrial DNA replication  single-stranded DNA exodeoxyribonuclease activity  mitochondrial DNA repair  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBImitochondrial genome maintenance  DNA binding  mitochondrion  mitochondrial DNA replication  single-stranded DNA exodeoxyribonuclease activity  mitochondrial DNA repair  nucleic acid phosphodiester bond hydrolysis  
NDEx NetworkMGME1
Atlas of Cancer Signalling NetworkMGME1
Wikipedia pathwaysMGME1
Orthology - Evolution
OrthoDB92667
GeneTree (enSembl)ENSG00000125871
Phylogenetic Trees/Animal Genes : TreeFamMGME1
HOVERGENQ9BQP7
HOGENOMQ9BQP7
Homologs : HomoloGeneMGME1
Homology/Alignments : Family Browser (UCSC)MGME1
Gene fusions - Rearrangements
Fusion : MitelmanACACA/MGME1 [17q12/20p11.23]  [t(17;20)(q12;p11)]  
Fusion : MitelmanASH2L/MGME1 [8p11.23/20p11.23]  [t(8;20)(p11;p11)]  
Fusion : MitelmanRAB28/MGME1 [4p15.33/20p11.23]  [t(4;20)(p15;p11)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMGME1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MGME1
dbVarMGME1
ClinVarMGME1
1000_GenomesMGME1 
Exome Variant ServerMGME1
ExAC (Exome Aggregation Consortium)MGME1 (select the gene name)
Genetic variants : HAPMAP92667
Genomic Variants (DGV)MGME1 [DGVbeta]
DECIPHERMGME1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMGME1 
Mutations
ICGC Data PortalMGME1 
TCGA Data PortalMGME1 
Broad Tumor PortalMGME1
OASIS PortalMGME1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMGME1
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MGME1
DgiDB (Drug Gene Interaction Database)MGME1
DoCM (Curated mutations)MGME1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MGME1 (select a term)
intoGenMGME1
Cancer3DMGME1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615076    615084   
Orphanet22063   
MedgenMGME1
Genetic Testing Registry MGME1
NextProtQ9BQP7 [Medical]
TSGene92667
GENETestsMGME1
Target ValidationMGME1
Huge Navigator MGME1 [HugePedia]
snp3D : Map Gene to Disease92667
BioCentury BCIQMGME1
ClinGenMGME1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD92667
Chemical/Pharm GKB GenePA25783
Clinical trialMGME1
Miscellaneous
canSAR (ICR)MGME1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMGME1
EVEXMGME1
GoPubMedMGME1
iHOPMGME1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:17:57 CEST 2017

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