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MUT (methylmalonyl-CoA mutase)

Identity

Alias_namesmethylmalonyl Coenzyme A mutase
Other aliasMCM
HGNC (Hugo) MUT
LocusID (NCBI) 4594
Atlas_Id 70586
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 49430360 and ends at 49463328 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)
CENPQ (6p12.3) / MUT (6p12.3)CUL1 (7q36.1) / MUT (6p12.3)MUT (6p12.3) / SUPT3H (6p21.1)
CENPQ MUTCUL1 MUT

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(6;6)(p12;p12) CENPQ/MUT
t(6;6)(p12;p21) MUT/SUPT3H
t(6;7)(p12;q36) CUL1/MUT


External links

Nomenclature
HGNC (Hugo)MUT   7526
Cards
Entrez_Gene (NCBI)MUT  4594  methylmalonyl-CoA mutase
AliasesMCM
GeneCards (Weizmann)MUT
Ensembl hg19 (Hinxton)ENSG00000146085 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146085 [Gene_View]  ENSG00000146085 [Sequence]  chr6:49430360-49463328 [Contig_View]  MUT [Vega]
ICGC DataPortalENSG00000146085
TCGA cBioPortalMUT
AceView (NCBI)MUT
Genatlas (Paris)MUT
WikiGenes4594
SOURCE (Princeton)MUT
Genetics Home Reference (NIH)MUT
Genomic and cartography
GoldenPath hg38 (UCSC)MUT  -     chr6:49430360-49463328 -  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MUT  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblMUT - 6p12.3 [CytoView hg19]  MUT - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBIMUT [Mapview hg19]  MUT [Mapview hg38]
OMIM251000   609058   
Gene and transcription
Genbank (Entrez)AB208845 AK292568 AK312611 BC016282 BT007434
RefSeq transcript (Entrez)NM_000255
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MUT
Cluster EST : UnigeneHs.485527 [ NCBI ]
CGAP (NCI)Hs.485527
Alternative Splicing GalleryENSG00000146085
Gene ExpressionMUT [ NCBI-GEO ]   MUT [ EBI - ARRAY_EXPRESS ]   MUT [ SEEK ]   MUT [ MEM ]
Gene Expression Viewer (FireBrowse)MUT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4594
GTEX Portal (Tissue expression)MUT
Human Protein AtlasENSG00000146085-MUT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP22033   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP22033  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP22033
Splice isoforms : SwissVarP22033
PhosPhoSitePlusP22033
Domaine pattern : Prosite (Expaxy)B12_BINDING (PS51332)    METMALONYL_COA_MUTASE (PS00544)   
Domains : Interpro (EBI)Acid_CoA_mut_C    Cbl-dep_enz_cat    Cbl-dep_enz_cat-sub    Cobalamin-bd    MeMalonylCoA_mutase_a/b_cat    MMCoA_mutase_a_cat   
Domain families : Pfam (Sanger)B12-binding (PF02310)    MM_CoA_mutase (PF01642)   
Domain families : Pfam (NCBI)pfam02310    pfam01642   
Conserved Domain (NCBI)MUT
DMDM Disease mutations4594
Blocks (Seattle)MUT
PDB (SRS)2XIJ    2XIQ    3BIC   
PDB (PDBSum)2XIJ    2XIQ    3BIC   
PDB (IMB)2XIJ    2XIQ    3BIC   
PDB (RSDB)2XIJ    2XIQ    3BIC   
Structural Biology KnowledgeBase2XIJ    2XIQ    3BIC   
SCOP (Structural Classification of Proteins)2XIJ    2XIQ    3BIC   
CATH (Classification of proteins structures)2XIJ    2XIQ    3BIC   
SuperfamilyP22033
Human Protein Atlas [tissue]ENSG00000146085-MUT [tissue]
Peptide AtlasP22033
HPRD02014
IPIIPI00024934   IPI01011972   
Protein Interaction databases
DIP (DOE-UCLA)P22033
IntAct (EBI)P22033
FunCoupENSG00000146085
BioGRIDMUT
STRING (EMBL)MUT
ZODIACMUT
Ontologies - Pathways
QuickGOP22033
Ontology : AmiGO###############################################################################################################################################################################################################################################################                    
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                    
Pathways : BIOCARTACatabolic Pathways for Methionine, Isoleucine, Threonine and Valine [Genes]   
Pathways : KEGGValine, leucine and isoleucine degradation    Propanoate metabolism   
NDEx NetworkMUT
Atlas of Cancer Signalling NetworkMUT
Wikipedia pathwaysMUT
Orthology - Evolution
OrthoDB4594
GeneTree (enSembl)ENSG00000146085
Phylogenetic Trees/Animal Genes : TreeFamMUT
HOVERGENP22033
HOGENOMP22033
Homologs : HomoloGeneMUT
Homology/Alignments : Family Browser (UCSC)MUT
Gene fusions - Rearrangements
Fusion PortalCENPQ MUT
Fusion PortalCUL1 MUT
Fusion : QuiverMUT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMUT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MUT
dbVarMUT
ClinVarMUT
1000_GenomesMUT 
Exome Variant ServerMUT
ExAC (Exome Aggregation Consortium)ENSG00000146085
GNOMAD BrowserENSG00000146085
Varsome BrowserMUT
Genetic variants : HAPMAP4594
Genomic Variants (DGV)MUT [DGVbeta]
DECIPHERMUT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMUT 
Mutations
ICGC Data PortalMUT 
TCGA Data PortalMUT 
Broad Tumor PortalMUT
OASIS PortalMUT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMUT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMUT
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
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MUT
DgiDB (Drug Gene Interaction Database)MUT
DoCM (Curated mutations)MUT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MUT (select a term)
intoGenMUT
Cancer3DMUT(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM251000    609058   
Orphanet20777    11338   
DisGeNETMUT
MedgenMUT
Genetic Testing Registry MUT
NextProtP22033 [Medical]
TSGene4594
GENETestsMUT
Target ValidationMUT
Huge Navigator MUT [HugePedia]
snp3D : Map Gene to Disease4594
BioCentury BCIQMUT
ClinGenMUT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4594
Chemical/Pharm GKB GenePA31327
Clinical trialMUT
Miscellaneous
canSAR (ICR)MUT (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMUT
EVEXMUT
GoPubMedMUT
iHOPMUT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 14:19:03 CEST 2018

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