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MRPL40 (mitochondrial ribosomal protein L40)

Identity

Alias_namesNLVCF
nuclear localization signal deleted in velocardiofacial syndrome
Alias_symbol (synonym)MRP-L22
Other aliasL40mt
MRP-L40
MRPL22
URIM
HGNC (Hugo) MRPL40
LocusID (NCBI) 64976
Atlas_Id 41429
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19432504 and ends at 19436078 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MRPL40 (22q11.21) / TMCC3 (12q22)MRPL40 22q11.21 / TMCC3 12q22

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)MRPL40   14491
Cards
Entrez_Gene (NCBI)MRPL40  64976  mitochondrial ribosomal protein L40
AliasesL40mt; MRP-L22; MRP-L40; MRPL22; 
NLVCF; URIM
GeneCards (Weizmann)MRPL40
Ensembl hg19 (Hinxton)ENSG00000185608 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185608 [Gene_View]  chr22:19432504-19436078 [Contig_View]  MRPL40 [Vega]
ICGC DataPortalENSG00000185608
TCGA cBioPortalMRPL40
AceView (NCBI)MRPL40
Genatlas (Paris)MRPL40
WikiGenes64976
SOURCE (Princeton)MRPL40
Genetics Home Reference (NIH)MRPL40
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL40  -     chr22:19432504-19436078 +  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL40  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblMRPL40 - 22q11.21 [CytoView hg19]  MRPL40 - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBIMRPL40 [Mapview hg19]  MRPL40 [Mapview hg38]
OMIM605089   
Gene and transcription
Genbank (Entrez)AF034091 AJ295637 AK057708 AK123768 BC009707
RefSeq transcript (Entrez)NM_001318151 NM_001318152 NM_003776
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRPL40
Cluster EST : UnigeneHs.431307 [ NCBI ]
CGAP (NCI)Hs.431307
Alternative Splicing GalleryENSG00000185608
Gene ExpressionMRPL40 [ NCBI-GEO ]   MRPL40 [ EBI - ARRAY_EXPRESS ]   MRPL40 [ SEEK ]   MRPL40 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL40 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64976
GTEX Portal (Tissue expression)MRPL40
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQ50   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQ50  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQ50
Splice isoforms : SwissVarQ9NQ50
PhosPhoSitePlusQ9NQ50
Domains : Interpro (EBI)Ribosomal_L28/L40_mit   
Domain families : Pfam (Sanger)MRP-L28 (PF09812)   
Domain families : Pfam (NCBI)pfam09812   
Conserved Domain (NCBI)MRPL40
DMDM Disease mutations64976
Blocks (Seattle)MRPL40
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   
SuperfamilyQ9NQ50
Human Protein AtlasENSG00000185608
Peptide AtlasQ9NQ50
HPRD05476
IPIIPI00099871   IPI00852745   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQ50
IntAct (EBI)Q9NQ50
FunCoupENSG00000185608
BioGRIDMRPL40
STRING (EMBL)MRPL40
ZODIACMRPL40
Ontologies - Pathways
QuickGOQ9NQ50
Ontology : AmiGORNA binding  protein binding  nucleus  mitochondrial inner membrane  mitochondrial ribosome  mitochondrial large ribosomal subunit  anatomical structure morphogenesis  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIRNA binding  protein binding  nucleus  mitochondrial inner membrane  mitochondrial ribosome  mitochondrial large ribosomal subunit  anatomical structure morphogenesis  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkMRPL40
Atlas of Cancer Signalling NetworkMRPL40
Wikipedia pathwaysMRPL40
Orthology - Evolution
OrthoDB64976
GeneTree (enSembl)ENSG00000185608
Phylogenetic Trees/Animal Genes : TreeFamMRPL40
HOVERGENQ9NQ50
HOGENOMQ9NQ50
Homologs : HomoloGeneMRPL40
Homology/Alignments : Family Browser (UCSC)MRPL40
Gene fusions - Rearrangements
Fusion : MitelmanMRPL40/TMCC3 [22q11.21/12q22]  
Fusion: TCGAMRPL40 22q11.21 TMCC3 12q22 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL40
dbVarMRPL40
ClinVarMRPL40
1000_GenomesMRPL40 
Exome Variant ServerMRPL40
ExAC (Exome Aggregation Consortium)MRPL40 (select the gene name)
Genetic variants : HAPMAP64976
Genomic Variants (DGV)MRPL40 [DGVbeta]
DECIPHERMRPL40 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL40 
Mutations
ICGC Data PortalMRPL40 
TCGA Data PortalMRPL40 
Broad Tumor PortalMRPL40
OASIS PortalMRPL40 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL40  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL40
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 MRPL40
DgiDB (Drug Gene Interaction Database)MRPL40
DoCM (Curated mutations)MRPL40 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL40 (select a term)
intoGenMRPL40
Cancer3DMRPL40(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605089   
Orphanet
MedgenMRPL40
Genetic Testing Registry MRPL40
NextProtQ9NQ50 [Medical]
TSGene64976
GENETestsMRPL40
Target ValidationMRPL40
Huge Navigator MRPL40 [HugePedia]
snp3D : Map Gene to Disease64976
BioCentury BCIQMRPL40
ClinGenMRPL40
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64976
Chemical/Pharm GKB GenePA30972
Clinical trialMRPL40
Miscellaneous
canSAR (ICR)MRPL40 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL40
EVEXMRPL40
GoPubMedMRPL40
iHOPMRPL40
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:00:41 CEST 2017

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