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RBM20 (RNA binding motif protein 20)

Identity

Other alias-
HGNC (Hugo) RBM20
LocusID (NCBI) 282996
Atlas_Id 54576
Location 10q25.2  [Link to chromosome band 10q25]
Location_base_pair Starts at 110644397 and ends at 110839471 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SHOC2 (10q25.2) / RBM20 (10q25.2)TUBB4A (19p13.3) / RBM20 (10q25.2)

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 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)RBM20   27424
LRG (Locus Reference Genomic)LRG_382
Cards
Entrez_Gene (NCBI)RBM20  282996  RNA binding motif protein 20
Aliases
GeneCards (Weizmann)RBM20
Ensembl hg19 (Hinxton)ENSG00000203867 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203867 [Gene_View]  chr10:110644397-110839471 [Contig_View]  RBM20 [Vega]
ICGC DataPortalENSG00000203867
TCGA cBioPortalRBM20
AceView (NCBI)RBM20
Genatlas (Paris)RBM20
WikiGenes282996
SOURCE (Princeton)RBM20
Genetics Home Reference (NIH)RBM20
Genomic and cartography
GoldenPath hg38 (UCSC)RBM20  -     chr10:110644397-110839471 +  10q25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RBM20  -     10q25.2   [Description]    (hg19-Feb_2009)
EnsemblRBM20 - 10q25.2 [CytoView hg19]  RBM20 - 10q25.2 [CytoView hg38]
Mapping of homologs : NCBIRBM20 [Mapview hg19]  RBM20 [Mapview hg38]
OMIM613171   613172   
Gene and transcription
Genbank (Entrez)AK302802 AL832084 BX648563 CB044334 EU822950
RefSeq transcript (Entrez)NM_001134363
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RBM20
Cluster EST : UnigeneHs.116630 [ NCBI ]
CGAP (NCI)Hs.116630
Alternative Splicing GalleryENSG00000203867
Gene ExpressionRBM20 [ NCBI-GEO ]   RBM20 [ EBI - ARRAY_EXPRESS ]   RBM20 [ SEEK ]   RBM20 [ MEM ]
Gene Expression Viewer (FireBrowse)RBM20 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)282996
GTEX Portal (Tissue expression)RBM20
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5T481   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5T481  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5T481
Splice isoforms : SwissVarQ5T481
PhosPhoSitePlusQ5T481
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    ZF_MATRIN (PS50171)   
Domains : Interpro (EBI)Nucleotide-bd_a/b_plait    RRM_dom    Znf_C2H2_matrin    Znf_U1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)RRM (SM00360)  ZnF_U1 (SM00451)  
Conserved Domain (NCBI)RBM20
DMDM Disease mutations282996
Blocks (Seattle)RBM20
SuperfamilyQ5T481
Human Protein AtlasENSG00000203867
Peptide AtlasQ5T481
IPIIPI00552787   IPI00985348   
Protein Interaction databases
DIP (DOE-UCLA)Q5T481
IntAct (EBI)Q5T481
FunCoupENSG00000203867
BioGRIDRBM20
STRING (EMBL)RBM20
ZODIACRBM20
Ontologies - Pathways
QuickGOQ5T481
Ontology : AmiGORNA binding  nucleus  mRNA processing  heart development  zinc ion binding  RNA splicing  positive regulation of RNA splicing  
Ontology : EGO-EBIRNA binding  nucleus  mRNA processing  heart development  zinc ion binding  RNA splicing  positive regulation of RNA splicing  
NDEx NetworkRBM20
Atlas of Cancer Signalling NetworkRBM20
Wikipedia pathwaysRBM20
Orthology - Evolution
OrthoDB282996
GeneTree (enSembl)ENSG00000203867
Phylogenetic Trees/Animal Genes : TreeFamRBM20
HOVERGENQ5T481
HOGENOMQ5T481
Homologs : HomoloGeneRBM20
Homology/Alignments : Family Browser (UCSC)RBM20
Gene fusions - Rearrangements
Fusion : MitelmanSHOC2/RBM20 [10q25.2/10q25.2]  [t(10;10)(q25;q25)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRBM20 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RBM20
dbVarRBM20
ClinVarRBM20
1000_GenomesRBM20 
Exome Variant ServerRBM20
ExAC (Exome Aggregation Consortium)RBM20 (select the gene name)
Genetic variants : HAPMAP282996
Genomic Variants (DGV)RBM20 [DGVbeta]
DECIPHERRBM20 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRBM20 
Mutations
ICGC Data PortalRBM20 
TCGA Data PortalRBM20 
Broad Tumor PortalRBM20
OASIS PortalRBM20 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRBM20  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRBM20
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 RBM20
DgiDB (Drug Gene Interaction Database)RBM20
DoCM (Curated mutations)RBM20 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RBM20 (select a term)
intoGenRBM20
Cancer3DRBM20(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613171    613172   
Orphanet635   
MedgenRBM20
Genetic Testing Registry RBM20
NextProtQ5T481 [Medical]
TSGene282996
GENETestsRBM20
Huge Navigator RBM20 [HugePedia]
snp3D : Map Gene to Disease282996
BioCentury BCIQRBM20
ClinGenRBM20
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD282996
Chemical/Pharm GKB GenePA134934622
Clinical trialRBM20
Miscellaneous
canSAR (ICR)RBM20 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRBM20
EVEXRBM20
GoPubMedRBM20
iHOPRBM20
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:34:27 CEST 2017

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