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MRPL43 (mitochondrial ribosomal protein L43)

Identity

Alias_symbol (synonym)bMRP36a
Other aliasL43mt
MRP-L43
HGNC (Hugo) MRPL43
LocusID (NCBI) 84545
Atlas_Id 70459
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 100986269 and ends at 100987519 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)
MRPL43 (10q24.31) / FAM127A (Xq26.3)OSBP2 (22q12.2) / MRPL43 (10q24.31)

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) [ 1 ]
  t(10;22)(q24;q12) OSBP2/MRPL43

External links

Nomenclature
HGNC (Hugo)MRPL43   14517
Cards
Entrez_Gene (NCBI)MRPL43  84545  mitochondrial ribosomal protein L43
AliasesL43mt; MRP-L43; bMRP36a
GeneCards (Weizmann)MRPL43
Ensembl hg19 (Hinxton)ENSG00000055950 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000055950 [Gene_View]  ENSG00000055950 [Sequence]  chr10:100986269-100987519 [Contig_View]  MRPL43 [Vega]
ICGC DataPortalENSG00000055950
TCGA cBioPortalMRPL43
AceView (NCBI)MRPL43
Genatlas (Paris)MRPL43
WikiGenes84545
SOURCE (Princeton)MRPL43
Genetics Home Reference (NIH)MRPL43
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL43  -     chr10:100986269-100987519 -  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL43  -     10q24.31   [Description]    (hg19-Feb_2009)
EnsemblMRPL43 - 10q24.31 [CytoView hg19]  MRPL43 - 10q24.31 [CytoView hg38]
Mapping of homologs : NCBIMRPL43 [Mapview hg19]  MRPL43 [Mapview hg38]
OMIM611848   
Gene and transcription
Genbank (Entrez)AB049656 AF086122 AK095556 AK291069 AK300237
RefSeq transcript (Entrez)NM_001308396 NM_032112 NM_176792 NM_176793 NM_176794
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRPL43
Cluster EST : UnigeneHs.421848 [ NCBI ]
CGAP (NCI)Hs.421848
Alternative Splicing GalleryENSG00000055950
Gene ExpressionMRPL43 [ NCBI-GEO ]   MRPL43 [ EBI - ARRAY_EXPRESS ]   MRPL43 [ SEEK ]   MRPL43 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL43 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84545
GTEX Portal (Tissue expression)MRPL43
Human Protein AtlasENSG00000055950-MRPL43 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N983   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N983  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N983
Splice isoforms : SwissVarQ8N983
PhosPhoSitePlusQ8N983
Domains : Interpro (EBI)Ribosome/NADH_DH    Thioredoxin-like_fold   
Domain families : Pfam (Sanger)L51_S25_CI-B8 (PF05047)   
Domain families : Pfam (NCBI)pfam05047   
Domain families : Smart (EMBL)L51_S25_CI-B8 (SM00916)  
Conserved Domain (NCBI)MRPL43
DMDM Disease mutations84545
Blocks (Seattle)MRPL43
PDB (SRS)3J7Y    3J9M   
PDB (PDBSum)3J7Y    3J9M   
PDB (IMB)3J7Y    3J9M   
PDB (RSDB)3J7Y    3J9M   
Structural Biology KnowledgeBase3J7Y    3J9M   
SCOP (Structural Classification of Proteins)3J7Y    3J9M   
CATH (Classification of proteins structures)3J7Y    3J9M   
SuperfamilyQ8N983
Human Protein Atlas [tissue]ENSG00000055950-MRPL43 [tissue]
Peptide AtlasQ8N983
HPRD14762
IPIIPI00428285   IPI00428286   IPI00428287   IPI00428288   IPI00428289   IPI00384571   IPI00640672   IPI00334579   IPI00645648   IPI00979816   
Protein Interaction databases
DIP (DOE-UCLA)Q8N983
IntAct (EBI)Q8N983
FunCoupENSG00000055950
BioGRIDMRPL43
STRING (EMBL)MRPL43
ZODIACMRPL43
Ontologies - Pathways
QuickGOQ8N983
Ontology : AmiGO###############################################################################################################################################################################################################################################################                    
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                    
NDEx NetworkMRPL43
Atlas of Cancer Signalling NetworkMRPL43
Wikipedia pathwaysMRPL43
Orthology - Evolution
OrthoDB84545
GeneTree (enSembl)ENSG00000055950
Phylogenetic Trees/Animal Genes : TreeFamMRPL43
HOVERGENQ8N983
HOGENOMQ8N983
Homologs : HomoloGeneMRPL43
Homology/Alignments : Family Browser (UCSC)MRPL43
Gene fusions - Rearrangements
Fusion : QuiverMRPL43
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL43 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL43
dbVarMRPL43
ClinVarMRPL43
1000_GenomesMRPL43 
Exome Variant ServerMRPL43
ExAC (Exome Aggregation Consortium)ENSG00000055950
GNOMAD BrowserENSG00000055950
Varsome BrowserMRPL43
Genetic variants : HAPMAP84545
Genomic Variants (DGV)MRPL43 [DGVbeta]
DECIPHERMRPL43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL43 
Mutations
ICGC Data PortalMRPL43 
TCGA Data PortalMRPL43 
Broad Tumor PortalMRPL43
OASIS PortalMRPL43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL43  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL43
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MRPL43
DgiDB (Drug Gene Interaction Database)MRPL43
DoCM (Curated mutations)MRPL43 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL43 (select a term)
intoGenMRPL43
Cancer3DMRPL43(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611848   
Orphanet
DisGeNETMRPL43
MedgenMRPL43
Genetic Testing Registry MRPL43
NextProtQ8N983 [Medical]
TSGene84545
GENETestsMRPL43
Target ValidationMRPL43
Huge Navigator MRPL43 [HugePedia]
snp3D : Map Gene to Disease84545
BioCentury BCIQMRPL43
ClinGenMRPL43
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84545
Chemical/Pharm GKB GenePA30975
Clinical trialMRPL43
Miscellaneous
canSAR (ICR)MRPL43 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL43
EVEXMRPL43
GoPubMedMRPL43
iHOPMRPL43
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 14:18:33 CEST 2018
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