Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MSH5 (mutS homolog 5)

Identity

Alias_namesmutS (E. coli) homolog 5
mutS homolog 5 (E. coli)
Alias_symbol (synonym)G7
Other aliasMUTSH5
NG23
POF13
HGNC (Hugo) MSH5
LocusID (NCBI) 4439
Atlas_Id 343
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 31739948 and ends at 31762678 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)
MSH5 (6p21.33) / AIF1 (6p21.33)MSH5 (6p21.33) / C6orf26 ()SKIV2L (6p21.33) / MSH5 (6p21.33)
VPS52 (6p21.32) / MSH5 (6p21.33)SKIV2L 6p21.33 / MSH5 6p21.33

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(3;6)(q27;p21) SENP2/MSH5
SKIV2L/MSH5 (6p21)
t(6;11)(p21;q12) MSH5/BSCL2

External links

Nomenclature
HGNC (Hugo)MSH5   7328
Cards
Entrez_Gene (NCBI)MSH5  4439  mutS homolog 5
AliasesG7; MUTSH5; NG23; POF13
GeneCards (Weizmann)MSH5
Ensembl hg19 (Hinxton)ENSG00000204410 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204410 [Gene_View]  ENSG00000204410 [Sequence]  chr6:31739948-31762678 [Contig_View]  MSH5 [Vega]
ICGC DataPortalENSG00000204410
TCGA cBioPortalMSH5
AceView (NCBI)MSH5
Genatlas (Paris)MSH5
WikiGenes4439
SOURCE (Princeton)MSH5
Genetics Home Reference (NIH)MSH5
Genomic and cartography
GoldenPath hg38 (UCSC)MSH5  -     chr6:31739948-31762678 +  6p21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MSH5  -     6p21.33   [Description]    (hg19-Feb_2009)
GoldenPathMSH5 - 6p21.33 [CytoView hg19]  MSH5 - 6p21.33 [CytoView hg38]
ImmunoBaseENSG00000204410
Mapping of homologs : NCBIMSH5 [Mapview hg19]  MSH5 [Mapview hg38]
OMIM603382   617442   
Gene and transcription
Genbank (Entrez)AB209886 AF034759 AF048986 AF048987 AF070071
RefSeq transcript (Entrez)NM_002441 NM_025259 NM_172165 NM_172166
RefSeq genomic (Entrez)NC_000006 NG_011611 NT_113891 NT_167244 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249
Consensus coding sequences : CCDS (NCBI)MSH5
Cluster EST : UnigeneHs.647011 [ NCBI ]
CGAP (NCI)Hs.647011
Alternative Splicing GalleryENSG00000204410
Gene ExpressionMSH5 [ NCBI-GEO ]   MSH5 [ EBI - ARRAY_EXPRESS ]   MSH5 [ SEEK ]   MSH5 [ MEM ]
Gene Expression Viewer (FireBrowse)MSH5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4439
GTEX Portal (Tissue expression)MSH5
Human Protein AtlasENSG00000204410-MSH5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43196   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43196  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43196
Splice isoforms : SwissVarO43196
PhosPhoSitePlusO43196
Domaine pattern : Prosite (Expaxy)DNA_MISMATCH_REPAIR_2 (PS00486)   
Domains : Interpro (EBI)DNA_mismatch_repair_Msh2    DNA_mismatch_repair_MutS_C    DNA_mismatch_repair_MutS_clamp    DNA_mismatch_repair_MutS_core    DNA_mismatch_repair_MutS_sf    P-loop_NTPase   
Domain families : Pfam (Sanger)MutS_III (PF05192)    MutS_IV (PF05190)    MutS_V (PF00488)   
Domain families : Pfam (NCBI)pfam05192    pfam05190    pfam00488   
Domain families : Smart (EMBL)MUTSac (SM00534)  MUTSd (SM00533)  
Conserved Domain (NCBI)MSH5
DMDM Disease mutations4439
Blocks (Seattle)MSH5
SuperfamilyO43196
Human Protein Atlas [tissue]ENSG00000204410-MSH5 [tissue]
Peptide AtlasO43196
HPRD04544
Protein Interaction databases
DIP (DOE-UCLA)O43196
IntAct (EBI)O43196
FunCoupENSG00000204410
BioGRIDMSH5
STRING (EMBL)MSH5
ZODIACMSH5
Ontologies - Pathways
QuickGOO43196
Ontology : AmiGOprotein binding  ATP binding  mismatch repair  reciprocal meiotic recombination  DNA-dependent ATPase activity  mismatched DNA binding  mismatch repair complex  
Ontology : EGO-EBIprotein binding  ATP binding  mismatch repair  reciprocal meiotic recombination  DNA-dependent ATPase activity  mismatched DNA binding  mismatch repair complex  
NDEx NetworkMSH5
Atlas of Cancer Signalling NetworkMSH5
Wikipedia pathwaysMSH5
Orthology - Evolution
OrthoDB4439
GeneTree (enSembl)ENSG00000204410
Phylogenetic Trees/Animal Genes : TreeFamMSH5
HOGENOMO43196
Homologs : HomoloGeneMSH5
Homology/Alignments : Family Browser (UCSC)MSH5
Gene fusions - Rearrangements
Fusion : MitelmanSKIV2L/MSH5 [6p21.33/6p21.33]  [t(6;6)(p21;p21)]  
Fusion PortalSKIV2L 6p21.33 MSH5 6p21.33 BRCA
Fusion : QuiverMSH5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMSH5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MSH5
dbVarMSH5
ClinVarMSH5
1000_GenomesMSH5 
Exome Variant ServerMSH5
ExAC (Exome Aggregation Consortium)ENSG00000204410
GNOMAD BrowserENSG00000204410
Varsome BrowserMSH5
Genetic variants : HAPMAP4439
Genomic Variants (DGV)MSH5 [DGVbeta]
DECIPHERMSH5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMSH5 
Mutations
ICGC Data PortalMSH5 
TCGA Data PortalMSH5 
Broad Tumor PortalMSH5
OASIS PortalMSH5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMSH5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMSH5
Mutations and Diseases : HGMDMSH5
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 MSH5
DgiDB (Drug Gene Interaction Database)MSH5
DoCM (Curated mutations)MSH5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MSH5 (select a term)
intoGenMSH5
Cancer3DMSH5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603382    617442   
Orphanet
DisGeNETMSH5
MedgenMSH5
Genetic Testing Registry MSH5
NextProtO43196 [Medical]
TSGene4439
GENETestsMSH5
Target ValidationMSH5
Huge Navigator MSH5 [HugePedia]
snp3D : Map Gene to Disease4439
BioCentury BCIQMSH5
ClinGenMSH5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4439
Chemical/Pharm GKB GenePA31136
Clinical trialMSH5
Miscellaneous
canSAR (ICR)MSH5 (select the gene name)
DataMed IndexMSH5
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMSH5
EVEXMSH5
GoPubMedMSH5
iHOPMSH5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:56:29 CET 2019
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