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MMS19 (MMS19 homolog, cytosolic iron-sulfur assembly component)

Identity

Alias_namesMMS19L
MMS19 nucleotide excision repair homolog (S. cerevisiae)
Alias_symbol (synonym)MET18
hMMS19
Other alias
HGNC (Hugo) MMS19
LocusID (NCBI) 64210
Atlas_Id 41410
Location 10q24.1  [Link to chromosome band 10q24]
Location_base_pair Starts at 97458324 and ends at 97498609 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)
MMS19 (10q24.1) / CRTAC1 (10q24.2)MMS19 (10q24.1) / DHX57 (2p22.1)MMS19 (10q24.1) / NOLC1 (10q24.32)
NOCT (4q31.1) / MMS19 (10q24.1)MMS19 10q24.1 / CRTAC1 10q24.2

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)MMS19   13824
Cards
Entrez_Gene (NCBI)MMS19  64210  MMS19 homolog, cytosolic iron-sulfur assembly component
AliasesMET18; MMS19L; hMMS19
GeneCards (Weizmann)MMS19
Ensembl hg19 (Hinxton)ENSG00000155229 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000155229 [Gene_View]  chr10:97458324-97498609 [Contig_View]  MMS19 [Vega]
ICGC DataPortalENSG00000155229
TCGA cBioPortalMMS19
AceView (NCBI)MMS19
Genatlas (Paris)MMS19
WikiGenes64210
SOURCE (Princeton)MMS19
Genetics Home Reference (NIH)MMS19
Genomic and cartography
GoldenPath hg38 (UCSC)MMS19  -     chr10:97458324-97498609 -  10q24.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MMS19  -     10q24.1   [Description]    (hg19-Feb_2009)
EnsemblMMS19 - 10q24.1 [CytoView hg19]  MMS19 - 10q24.1 [CytoView hg38]
Mapping of homologs : NCBIMMS19 [Mapview hg19]  MMS19 [Mapview hg38]
OMIM614777   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001289403 NM_001289404 NM_001289405 NM_001330128 NM_022362
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MMS19
Cluster EST : UnigeneHs.500721 [ NCBI ]
CGAP (NCI)Hs.500721
Alternative Splicing GalleryENSG00000155229
Gene ExpressionMMS19 [ NCBI-GEO ]   MMS19 [ EBI - ARRAY_EXPRESS ]   MMS19 [ SEEK ]   MMS19 [ MEM ]
Gene Expression Viewer (FireBrowse)MMS19 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64210
GTEX Portal (Tissue expression)MMS19
Human Protein AtlasENSG00000155229-MMS19 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96T76   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96T76  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96T76
Splice isoforms : SwissVarQ96T76
PhosPhoSitePlusQ96T76
Domains : Interpro (EBI)ARM-like    ARM-type_fold    MMS19_C   
Domain families : Pfam (Sanger)MMS19_C (PF12460)   
Domain families : Pfam (NCBI)pfam12460   
Conserved Domain (NCBI)MMS19
DMDM Disease mutations64210
Blocks (Seattle)MMS19
SuperfamilyQ96T76
Human Protein Atlas [tissue]ENSG00000155229-MMS19 [tissue]
Peptide AtlasQ96T76
HPRD17579
IPIIPI00178649   IPI00877680   IPI00973493   IPI00154451   IPI00178852   IPI00878459   IPI00954146   IPI00180322   IPI01013156   IPI00647775   IPI00878159   IPI00878804   IPI00878647   IPI01014050   
Protein Interaction databases
DIP (DOE-UCLA)Q96T76
IntAct (EBI)Q96T76
FunCoupENSG00000155229
BioGRIDMMS19
STRING (EMBL)MMS19
ZODIACMMS19
Ontologies - Pathways
QuickGOQ96T76
Ontology : AmiGOphosphorelay signal transduction system  transcription coactivator activity  protein binding  nucleus  nucleus  nucleoplasm  holo TFIIH complex  cytoplasm  spindle  cytosol  DNA metabolic process  DNA repair  nucleotide-excision repair  nucleotide-excision repair  transcription, DNA-templated  cellular response to DNA damage stimulus  chromosome segregation  response to hormone  membrane  iron-sulfur cluster assembly  enzyme binding  receptor signaling complex scaffold activity  estrogen receptor binding  protein binding, bridging  positive regulation of transcription, DNA-templated  MMXD complex  CIA complex  
Ontology : EGO-EBIphosphorelay signal transduction system  transcription coactivator activity  protein binding  nucleus  nucleus  nucleoplasm  holo TFIIH complex  cytoplasm  spindle  cytosol  DNA metabolic process  DNA repair  nucleotide-excision repair  nucleotide-excision repair  transcription, DNA-templated  cellular response to DNA damage stimulus  chromosome segregation  response to hormone  membrane  iron-sulfur cluster assembly  enzyme binding  receptor signaling complex scaffold activity  estrogen receptor binding  protein binding, bridging  positive regulation of transcription, DNA-templated  MMXD complex  CIA complex  
NDEx NetworkMMS19
Atlas of Cancer Signalling NetworkMMS19
Wikipedia pathwaysMMS19
Orthology - Evolution
OrthoDB64210
GeneTree (enSembl)ENSG00000155229
Phylogenetic Trees/Animal Genes : TreeFamMMS19
HOVERGENQ96T76
HOGENOMQ96T76
Homologs : HomoloGeneMMS19
Homology/Alignments : Family Browser (UCSC)MMS19
Gene fusions - Rearrangements
Fusion : MitelmanMMS19/CRTAC1 [10q24.1/10q24.2]  
Fusion: TCGA_MDACCMMS19 10q24.1 CRTAC1 10q24.2 GBM
Tumor Fusion PortalMMS19
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMMS19 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MMS19
dbVarMMS19
ClinVarMMS19
1000_GenomesMMS19 
Exome Variant ServerMMS19
ExAC (Exome Aggregation Consortium)ENSG00000155229
GNOMAD BrowserENSG00000155229
Genetic variants : HAPMAP64210
Genomic Variants (DGV)MMS19 [DGVbeta]
DECIPHERMMS19 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMMS19 
Mutations
ICGC Data PortalMMS19 
TCGA Data PortalMMS19 
Broad Tumor PortalMMS19
OASIS PortalMMS19 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMMS19  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMMS19
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 MMS19
DgiDB (Drug Gene Interaction Database)MMS19
DoCM (Curated mutations)MMS19 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MMS19 (select a term)
intoGenMMS19
Cancer3DMMS19(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614777   
Orphanet
DisGeNETMMS19
MedgenMMS19
Genetic Testing Registry MMS19
NextProtQ96T76 [Medical]
TSGene64210
GENETestsMMS19
Target ValidationMMS19
Huge Navigator MMS19 [HugePedia]
snp3D : Map Gene to Disease64210
BioCentury BCIQMMS19
ClinGenMMS19
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64210
Chemical/Pharm GKB GenePA162395974
Clinical trialMMS19
Miscellaneous
canSAR (ICR)MMS19 (select the gene name)
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMMS19
EVEXMMS19
GoPubMedMMS19
iHOPMMS19
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:24:35 CET 2017

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