Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

RBL1 (retinoblastoma-like 1)

Identity

Alias_namesretinoblastoma-like 1
Alias_symbol (synonym)p107
cp107
PRB1
Other aliasCP107
HGNC (Hugo) RBL1
LocusID (NCBI) 5933
Atlas_Id 447
Location 20q11.23  [Link to chromosome band 20q11]
Location_base_pair Starts at 35624755 and ends at 35724403 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KLHL22 (22q11.21) / RBL1 (20q11.23)PISD (22q12.2) / RBL1 (20q11.23)RBL1 (20q11.23) / CPNE1 (20q11.22)
RBL1 (20q11.23) / CTNNBL1 (20q11.23)RBL1 (20q11.23) / PISD (22q12.2)RBL1 20q11.23 / CPNE1 20q11.22
RBL1 20q11.23 / CTNNBL1 20q11.23

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 Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)RBL1   9893
Cards
Entrez_Gene (NCBI)RBL1  5933  retinoblastoma-like 1
AliasesCP107; PRB1; p107
GeneCards (Weizmann)RBL1
Ensembl hg19 (Hinxton)ENSG00000080839 [Gene_View]  chr20:35624755-35724403 [Contig_View]  RBL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000080839 [Gene_View]  chr20:35624755-35724403 [Contig_View]  RBL1 [Vega]
ICGC DataPortalENSG00000080839
TCGA cBioPortalRBL1
AceView (NCBI)RBL1
Genatlas (Paris)RBL1
WikiGenes5933
SOURCE (Princeton)RBL1
Genetics Home Reference (NIH)RBL1
Genomic and cartography
GoldenPath hg19 (UCSC)RBL1  -     chr20:35624755-35724403 -  20q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RBL1  -     20q11.23   [Description]    (hg38-Dec_2013)
EnsemblRBL1 - 20q11.23 [CytoView hg19]  RBL1 - 20q11.23 [CytoView hg38]
Mapping of homologs : NCBIRBL1 [Mapview hg19]  RBL1 [Mapview hg38]
OMIM116957   
Gene and transcription
Genbank (Entrez)AK290380 AK308096 AK310870 BC032247 BQ004524
RefSeq transcript (Entrez)NM_002895 NM_183404
RefSeq genomic (Entrez)NC_000020 NC_018931 NT_011362 NW_004929418
Consensus coding sequences : CCDS (NCBI)RBL1
Cluster EST : UnigeneHs.207745 [ NCBI ]
CGAP (NCI)Hs.207745
Alternative Splicing GalleryENSG00000080839
Gene ExpressionRBL1 [ NCBI-GEO ]   RBL1 [ EBI - ARRAY_EXPRESS ]   RBL1 [ SEEK ]   RBL1 [ MEM ]
Gene Expression Viewer (FireBrowse)RBL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5933
GTEX Portal (Tissue expression)RBL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28749   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28749  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28749
Splice isoforms : SwissVarP28749
PhosPhoSitePlusP28749
Domains : Interpro (EBI)Cyclin-like    RB_A    RB_B    RB_C    RB_fam    RB_N    RBL1   
Domain families : Pfam (Sanger)DUF3452 (PF11934)    RB_A (PF01858)    RB_B (PF01857)    Rb_C (PF08934)   
Domain families : Pfam (NCBI)pfam11934    pfam01858    pfam01857    pfam08934   
Domain families : Smart (EMBL)CYCLIN (SM00385)  
Conserved Domain (NCBI)RBL1
DMDM Disease mutations5933
Blocks (Seattle)RBL1
PDB (SRS)1H28    4YOO    4YOS    4YOZ   
PDB (PDBSum)1H28    4YOO    4YOS    4YOZ   
PDB (IMB)1H28    4YOO    4YOS    4YOZ   
PDB (RSDB)1H28    4YOO    4YOS    4YOZ   
Structural Biology KnowledgeBase1H28    4YOO    4YOS    4YOZ   
SCOP (Structural Classification of Proteins)1H28    4YOO    4YOS    4YOZ   
CATH (Classification of proteins structures)1H28    4YOO    4YOS    4YOZ   
SuperfamilyP28749
Human Protein AtlasENSG00000080839
Peptide AtlasP28749
HPRD00312
IPIIPI00005139   IPI00375494   IPI00981168   IPI00981833   
Protein Interaction databases
DIP (DOE-UCLA)P28749
IntAct (EBI)P28749
FunCoupENSG00000080839
BioGRIDRBL1
STRING (EMBL)RBL1
ZODIACRBL1
Ontologies - Pathways
QuickGOP28749
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  protein binding  nucleoplasm  nucleoplasm  transcription factor complex  transcription, DNA-templated  cell cycle  transcription factor binding  viral process  chromatin modification  regulation of lipid kinase activity  positive regulation of transcription from RNA polymerase II promoter  regulation of cell cycle  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  protein binding  nucleoplasm  nucleoplasm  transcription factor complex  transcription, DNA-templated  cell cycle  transcription factor binding  viral process  chromatin modification  regulation of lipid kinase activity  positive regulation of transcription from RNA polymerase II promoter  regulation of cell cycle  
Pathways : BIOCARTACyclins and Cell Cycle Regulation [Genes]    METS affect on Macrophage Differentiation [Genes]   
Pathways : KEGGCell cycle    TGF-beta signaling pathway    Viral carcinogenesis   
NDEx NetworkRBL1
Atlas of Cancer Signalling NetworkRBL1
Wikipedia pathwaysRBL1
Orthology - Evolution
OrthoDB5933
GeneTree (enSembl)ENSG00000080839
Phylogenetic Trees/Animal Genes : TreeFamRBL1
HOVERGENP28749
HOGENOMP28749
Homologs : HomoloGeneRBL1
Homology/Alignments : Family Browser (UCSC)RBL1
Gene fusions - Rearrangements
Fusion : MitelmanPISD/RBL1 [22q12.2/20q11.23]  [t(20;22)(q11;q12)]  
Fusion : MitelmanRBL1/CPNE1 [20q11.23/20q11.22]  [t(20;20)(q11;q11)]  
Fusion : MitelmanRBL1/CTNNBL1 [20q11.23/20q11.23]  [t(20;20)(q11;q11)]  
Fusion : MitelmanRBL1/PISD [20q11.23/22q12.2]  [t(20;22)(q11;q12)]  
Fusion: TCGARBL1 20q11.23 CPNE1 20q11.22 BRCA
Fusion: TCGARBL1 20q11.23 CTNNBL1 20q11.23 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRBL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RBL1
dbVarRBL1
ClinVarRBL1
1000_GenomesRBL1 
Exome Variant ServerRBL1
ExAC (Exome Aggregation Consortium)RBL1 (select the gene name)
Genetic variants : HAPMAP5933
Genomic Variants (DGV)RBL1 [DGVbeta]
DECIPHER (Syndromes)20:35624755-35724403  ENSG00000080839
CONAN: Copy Number AnalysisRBL1 
Mutations
ICGC Data PortalRBL1 
TCGA Data PortalRBL1 
Broad Tumor PortalRBL1
OASIS PortalRBL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRBL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRBL1
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 RBL1
DgiDB (Drug Gene Interaction Database)RBL1
DoCM (Curated mutations)RBL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RBL1 (select a term)
intoGenRBL1
Cancer3DRBL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116957   
Orphanet
MedgenRBL1
Genetic Testing Registry RBL1
NextProtP28749 [Medical]
TSGene5933
GENETestsRBL1
Huge Navigator RBL1 [HugePedia]
snp3D : Map Gene to Disease5933
BioCentury BCIQRBL1
ClinGenRBL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5933
Chemical/Pharm GKB GenePA34257
Clinical trialRBL1
Miscellaneous
canSAR (ICR)RBL1 (select the gene name)
Probes
Litterature
PubMed117 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRBL1
EVEXRBL1
GoPubMedRBL1
iHOPRBL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:24:33 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.