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MRPL48 (mitochondrial ribosomal protein L48)

Identity

Alias_symbol (synonym)CGI-118
Other aliasHSPC290
L48MT
MRP-L48
HGNC (Hugo) MRPL48
LocusID (NCBI) 51642
Atlas_Id 54469
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 73498917 and ends at 73575656 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GLI3 (7p14.1) / MRPL48 (11q13.4)MRPL48 (11q13.4) / DTX4 (11q12.1)MRPL48 (11q13.4) / GAB2 (11q14.1)
MRPL48 (11q13.4) / GDPD5 (11q13.4)MRPL48 (11q13.4) / MAGOH (1p32.3)PPME1 (11q13.4) / MRPL48 (11q13.4)
RAB6A (11q13.4) / MRPL48 (11q13.4)STK3 (8q22.2) / MRPL48 (11q13.4)MRPL48 11q13.4 / DTX4 11q12.1
MRPL48 11q13.4 / GDPD5 11q13.4RAB6A 11q13.4 / MRPL48 11q13.4STK3 8q22.2 / MRPL48 11q13.4

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)MRPL48   16653
Cards
Entrez_Gene (NCBI)MRPL48  51642  mitochondrial ribosomal protein L48
AliasesCGI-118; HSPC290; L48MT; MRP-L48
GeneCards (Weizmann)MRPL48
Ensembl hg19 (Hinxton)ENSG00000175581 [Gene_View]  chr11:73498917-73575656 [Contig_View]  MRPL48 [Vega]
Ensembl hg38 (Hinxton)ENSG00000175581 [Gene_View]  chr11:73498917-73575656 [Contig_View]  MRPL48 [Vega]
ICGC DataPortalENSG00000175581
TCGA cBioPortalMRPL48
AceView (NCBI)MRPL48
Genatlas (Paris)MRPL48
WikiGenes51642
SOURCE (Princeton)MRPL48
Genetics Home Reference (NIH)MRPL48
Genomic and cartography
GoldenPath hg19 (UCSC)MRPL48  -     chr11:73498917-73575656 +  11q13.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MRPL48  -     11q13.4   [Description]    (hg38-Dec_2013)
EnsemblMRPL48 - 11q13.4 [CytoView hg19]  MRPL48 - 11q13.4 [CytoView hg38]
Mapping of homologs : NCBIMRPL48 [Mapview hg19]  MRPL48 [Mapview hg38]
OMIM611853   
Gene and transcription
Genbank (Entrez)AF151876 AF161408 AK297746 AK309219 AK310005
RefSeq transcript (Entrez)NM_001030046 NM_001318498 NM_001318499 NM_001318500 NM_016055
RefSeq genomic (Entrez)NC_000011 NC_018922 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)MRPL48
Cluster EST : UnigeneHs.503239 [ NCBI ]
CGAP (NCI)Hs.503239
Alternative Splicing GalleryENSG00000175581
Gene ExpressionMRPL48 [ NCBI-GEO ]   MRPL48 [ EBI - ARRAY_EXPRESS ]   MRPL48 [ SEEK ]   MRPL48 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51642
GTEX Portal (Tissue expression)MRPL48
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96GC5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96GC5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96GC5
Splice isoforms : SwissVarQ96GC5
PhosPhoSitePlusQ96GC5
Domains : Interpro (EBI)Ribosomal_L48    Ribosomal_S10_dom   
Domain families : Pfam (Sanger)Ribosomal_S10 (PF00338)   
Domain families : Pfam (NCBI)pfam00338   
Conserved Domain (NCBI)MRPL48
DMDM Disease mutations51642
Blocks (Seattle)MRPL48
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   
SuperfamilyQ96GC5
Human Protein AtlasENSG00000175581
Peptide AtlasQ96GC5
HPRD14767
IPIIPI00295066   IPI00807664   IPI01014886   IPI01010136   IPI01015670   IPI01013501   IPI01013013   IPI01013840   IPI01014322   IPI01011096   
Protein Interaction databases
DIP (DOE-UCLA)Q96GC5
IntAct (EBI)Q96GC5
FunCoupENSG00000175581
BioGRIDMRPL48
STRING (EMBL)MRPL48
ZODIACMRPL48
Ontologies - Pathways
QuickGOQ96GC5
Ontology : AmiGOprotein binding  mitochondrial inner membrane  mitochondrial ribosome  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIprotein binding  mitochondrial inner membrane  mitochondrial ribosome  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkMRPL48
Atlas of Cancer Signalling NetworkMRPL48
Wikipedia pathwaysMRPL48
Orthology - Evolution
OrthoDB51642
GeneTree (enSembl)ENSG00000175581
Phylogenetic Trees/Animal Genes : TreeFamMRPL48
HOVERGENQ96GC5
HOGENOMQ96GC5
Homologs : HomoloGeneMRPL48
Homology/Alignments : Family Browser (UCSC)MRPL48
Gene fusions - Rearrangements
Fusion : MitelmanMRPL48/DTX4 [11q13.4/11q12.1]  
Fusion : MitelmanMRPL48/GDPD5 [11q13.4/11q13.4]  [t(11;11)(q13;q13)]  
Fusion : MitelmanPPME1/MRPL48 [11q13.4/11q13.4]  [t(11;11)(q13;q13)]  
Fusion : MitelmanRAB6A/MRPL48 [11q13.4/11q13.4]  [t(11;11)(q13;q13)]  
Fusion : MitelmanSTK3/MRPL48 [8q22.2/11q13.4]  [t(8;11)(q22;q13)]  
Fusion: TCGAMRPL48 11q13.4 DTX4 11q12.1 BRCA
Fusion: TCGAMRPL48 11q13.4 GDPD5 11q13.4 LUSC
Fusion: TCGARAB6A 11q13.4 MRPL48 11q13.4 BRCA
Fusion: TCGASTK3 8q22.2 MRPL48 11q13.4 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL48
dbVarMRPL48
ClinVarMRPL48
1000_GenomesMRPL48 
Exome Variant ServerMRPL48
ExAC (Exome Aggregation Consortium)MRPL48 (select the gene name)
Genetic variants : HAPMAP51642
Genomic Variants (DGV)MRPL48 [DGVbeta]
DECIPHER (Syndromes)11:73498917-73575656  ENSG00000175581
CONAN: Copy Number AnalysisMRPL48 
Mutations
ICGC Data PortalMRPL48 
TCGA Data PortalMRPL48 
Broad Tumor PortalMRPL48
OASIS PortalMRPL48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL48
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MRPL48
DgiDB (Drug Gene Interaction Database)MRPL48
DoCM (Curated mutations)MRPL48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL48 (select a term)
intoGenMRPL48
Cancer3DMRPL48(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611853   
Orphanet
MedgenMRPL48
Genetic Testing Registry MRPL48
NextProtQ96GC5 [Medical]
TSGene51642
GENETestsMRPL48
Huge Navigator MRPL48 [HugePedia]
snp3D : Map Gene to Disease51642
BioCentury BCIQMRPL48
ClinGenMRPL48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51642
Chemical/Pharm GKB GenePA30980
Clinical trialMRPL48
Miscellaneous
canSAR (ICR)MRPL48 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL48
EVEXMRPL48
GoPubMedMRPL48
iHOPMRPL48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:17:24 CET 2017

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