Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MPHOSPH8 (M-phase phosphoprotein 8)

Identity

Alias_symbol (synonym)mpp8
HSMPP8
Other aliasTWA3
HGNC (Hugo) MPHOSPH8
LocusID (NCBI) 54737
Atlas_Id 51839
Location 13q12.11  [Link to chromosome band 13q12]
Location_base_pair Starts at 19633648 and ends at 19673459 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)
GALE (1p36.11) / MPHOSPH8 (13q12.11)GPC6 (13q31.3) / MPHOSPH8 (13q12.11)MACROD2 (20p12.1) / MPHOSPH8 (13q12.11)
MAGED2 (Xp11.21) / MPHOSPH8 (13q12.11)MPHOSPH8 (13q12.11) / MPHOSPH8 (13q12.11)MPHOSPH8 (13q12.11) / SAT1 (Xp22.11)
PSPC1 (13q12.11) / MPHOSPH8 (13q12.11)REXO2 (11q23.2) / MPHOSPH8 (13q12.11)SAT1 (Xp22.11) / MPHOSPH8 (13q12.11)
SNRNP200 (2q11.2) / MPHOSPH8 (13q12.11)UNC93B1 (11q13.2) / MPHOSPH8 (13q12.11)MAGED2 Xp11.21 / MPHOSPH8 13q12.11
PSPC1 13q12.11 / MPHOSPH8 13q12.11

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) [ 4 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(X;13)(p11;q12) MAGED2/MPHOSPH8
PSPC1/MPHOSPH8 (13q12)
t(13;20)(q12;p12) MACROD2/MPHOSPH8

External links

Nomenclature
HGNC (Hugo)MPHOSPH8   29810
Cards
Entrez_Gene (NCBI)MPHOSPH8  54737  M-phase phosphoprotein 8
AliasesHSMPP8; TWA3; mpp8
GeneCards (Weizmann)MPHOSPH8
Ensembl hg19 (Hinxton)ENSG00000196199 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196199 [Gene_View]  ENSG00000196199 [Sequence]  chr13:19633648-19673459 [Contig_View]  MPHOSPH8 [Vega]
ICGC DataPortalENSG00000196199
TCGA cBioPortalMPHOSPH8
AceView (NCBI)MPHOSPH8
Genatlas (Paris)MPHOSPH8
WikiGenes54737
SOURCE (Princeton)MPHOSPH8
Genetics Home Reference (NIH)MPHOSPH8
Genomic and cartography
GoldenPath hg38 (UCSC)MPHOSPH8  -     chr13:19633648-19673459 +  13q12.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MPHOSPH8  -     13q12.11   [Description]    (hg19-Feb_2009)
GoldenPathMPHOSPH8 - 13q12.11 [CytoView hg19]  MPHOSPH8 - 13q12.11 [CytoView hg38]
ImmunoBaseENSG00000196199
Mapping of homologs : NCBIMPHOSPH8 [Mapview hg19]  MPHOSPH8 [Mapview hg38]
OMIM611626   
Gene and transcription
Genbank (Entrez)AJ293409 AK056785 AK092556 AK300258 AL832864
RefSeq transcript (Entrez)NM_017520
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MPHOSPH8
Cluster EST : UnigeneHs.269654 [ NCBI ]
CGAP (NCI)Hs.269654
Alternative Splicing GalleryENSG00000196199
Gene ExpressionMPHOSPH8 [ NCBI-GEO ]   MPHOSPH8 [ EBI - ARRAY_EXPRESS ]   MPHOSPH8 [ SEEK ]   MPHOSPH8 [ MEM ]
Gene Expression Viewer (FireBrowse)MPHOSPH8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54737
GTEX Portal (Tissue expression)MPHOSPH8
Human Protein AtlasENSG00000196199-MPHOSPH8 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99549   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99549  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99549
Splice isoforms : SwissVarQ99549
PhosPhoSitePlusQ99549
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    CHROMO_1 (PS00598)    CHROMO_2 (PS50013)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    Chromo-like_dom_sf    Chromo/chromo_shadow_dom    Chromo_domain    Chromodomain_CS   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    Chromo (PF00385)   
Domain families : Pfam (NCBI)pfam12796    pfam00385   
Domain families : Smart (EMBL)ANK (SM00248)  CHROMO (SM00298)  
Conserved Domain (NCBI)MPHOSPH8
DMDM Disease mutations54737
Blocks (Seattle)MPHOSPH8
PDB (RSDB)3LWE    3QO2    3R93    3SVM   
PDB Europe3LWE    3QO2    3R93    3SVM   
PDB (PDBSum)3LWE    3QO2    3R93    3SVM   
PDB (IMB)3LWE    3QO2    3R93    3SVM   
Structural Biology KnowledgeBase3LWE    3QO2    3R93    3SVM   
SCOP (Structural Classification of Proteins)3LWE    3QO2    3R93    3SVM   
CATH (Classification of proteins structures)3LWE    3QO2    3R93    3SVM   
SuperfamilyQ99549
Human Protein Atlas [tissue]ENSG00000196199-MPHOSPH8 [tissue]
Peptide AtlasQ99549
HPRD13682
IPIIPI00030408   IPI00885104   IPI00844201   IPI01012466   
Protein Interaction databases
DIP (DOE-UCLA)Q99549
IntAct (EBI)Q99549
FunCoupENSG00000196199
BioGRIDMPHOSPH8
STRING (EMBL)MPHOSPH8
ZODIACMPHOSPH8
Ontologies - Pathways
QuickGOQ99549
Ontology : AmiGOnuclear nucleosome  heterochromatin  chromatin binding  protein binding  nucleus  nuclear heterochromatin  nucleolus  cytoplasm  cytosol  plasma membrane  methylated histone binding  regulation of DNA methylation  negative regulation of gene expression, epigenetic  negative regulation of single stranded viral RNA replication via double stranded DNA intermediate  negative regulation of transcription, DNA-templated  positive regulation of methylation-dependent chromatin silencing  
Ontology : EGO-EBInuclear nucleosome  heterochromatin  chromatin binding  protein binding  nucleus  nuclear heterochromatin  nucleolus  cytoplasm  cytosol  plasma membrane  methylated histone binding  regulation of DNA methylation  negative regulation of gene expression, epigenetic  negative regulation of single stranded viral RNA replication via double stranded DNA intermediate  negative regulation of transcription, DNA-templated  positive regulation of methylation-dependent chromatin silencing  
NDEx NetworkMPHOSPH8
Atlas of Cancer Signalling NetworkMPHOSPH8
Wikipedia pathwaysMPHOSPH8
Orthology - Evolution
OrthoDB54737
GeneTree (enSembl)ENSG00000196199
Phylogenetic Trees/Animal Genes : TreeFamMPHOSPH8
HOGENOMQ99549
Homologs : HomoloGeneMPHOSPH8
Homology/Alignments : Family Browser (UCSC)MPHOSPH8
Gene fusions - Rearrangements
Fusion : MitelmanMACROD2/MPHOSPH8 [20p12.1/13q12.11]  [t(13;20)(q12;p12)]  
Fusion : MitelmanMAGED2/MPHOSPH8 [Xp11.21/13q12.11]  [t(X;13)(p11;q12)]  
Fusion : MitelmanPSPC1/MPHOSPH8 [13q12.11/13q12.11]  [t(13;13)(q12;q12)]  
Fusion PortalMAGED2 Xp11.21 MPHOSPH8 13q12.11 BRCA
Fusion PortalPSPC1 13q12.11 MPHOSPH8 13q12.11 BLCA
Fusion : QuiverMPHOSPH8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMPHOSPH8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MPHOSPH8
dbVarMPHOSPH8
ClinVarMPHOSPH8
1000_GenomesMPHOSPH8 
Exome Variant ServerMPHOSPH8
ExAC (Exome Aggregation Consortium)ENSG00000196199
GNOMAD BrowserENSG00000196199
Varsome BrowserMPHOSPH8
Genetic variants : HAPMAP54737
Genomic Variants (DGV)MPHOSPH8 [DGVbeta]
DECIPHERMPHOSPH8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMPHOSPH8 
Mutations
ICGC Data PortalMPHOSPH8 
TCGA Data PortalMPHOSPH8 
Broad Tumor PortalMPHOSPH8
OASIS PortalMPHOSPH8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMPHOSPH8  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMPHOSPH8
Mutations and Diseases : HGMDMPHOSPH8
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 MPHOSPH8
DgiDB (Drug Gene Interaction Database)MPHOSPH8
DoCM (Curated mutations)MPHOSPH8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MPHOSPH8 (select a term)
intoGenMPHOSPH8
Cancer3DMPHOSPH8(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611626   
Orphanet
DisGeNETMPHOSPH8
MedgenMPHOSPH8
Genetic Testing Registry MPHOSPH8
NextProtQ99549 [Medical]
TSGene54737
GENETestsMPHOSPH8
Target ValidationMPHOSPH8
Huge Navigator MPHOSPH8 [HugePedia]
snp3D : Map Gene to Disease54737
BioCentury BCIQMPHOSPH8
ClinGenMPHOSPH8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54737
Chemical/Pharm GKB GenePA162396090
Clinical trialMPHOSPH8
Miscellaneous
canSAR (ICR)MPHOSPH8 (select the gene name)
DataMed IndexMPHOSPH8
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMPHOSPH8
EVEXMPHOSPH8
GoPubMedMPHOSPH8
iHOPMPHOSPH8
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 17:56:15 CET 2019
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