Fusion genes
(updated 2016) | BBX (3q13.12) / RB1 (13q14.2) | FNDC3A (13q14.2) / RB1 (13q14.2) | ITM2B (13q14.2) / RB1 (13q14.2) |
| |
RB1 (13q14.2) / C14orf166 (14q22.1) | RB1 (13q14.2) / CNIH3 (1q42.12) | RB1 (13q14.2) / ITM2B (13q14.2) |
| |
RB1 (13q14.2) / KCNRG (13q14.2) | RB1 (13q14.2) / MED4 (13q14.2) | RB1 (13q14.2) / MICAL1 (6q21) |
| |
RB1 (13q14.2) / RB1 (13q14.2) | RB1 (13q14.2) / TMEM65 (8q24.13) | RCBTB2 (13q14.2) / RB1 (13q14.2) |
| |
SH3PXD2A (10q24.33) / RB1 (13q14.2) | VWA8 (13q14.11) / RB1 (13q14.2) |
| The interaction of RB with E2F coincides with an inhibition of the transcriptional activity of E2F. |
| Hiebert SW, Chellappan SP, Horowitz JM, Nevins JR |
| Genes & development. 1992 ; 6 (2) : 177-185. |
| PMID 1531329 |
| |
| The retinoblastoma protein is phosphorylated on multiple sites by human cdc2. |
| Lees JA, Buchkovich KJ, Marshak DR, Anderson CW, Harlow E |
| The EMBO journal. 1991 ; 10 (13) : 4279-4290. |
| PMID 1756735 |
| |
| Genomic organization of the human retinoblastoma gene. |
| T'Ang A, Wu KJ, Hashimoto T, Liu WY, Takahashi R, Shi XH, Mihara K, Zhang FH, Chen YY, Du C |
| Oncogene. 1989 ; 4 (4) : 401-407. |
| PMID 2717184 |
| |
| RB kinases and RB-binding proteins: new points of view. |
| Taya Y |
| Trends in biochemical sciences. 1997 ; 22 (1) : 14-17. |
| PMID 9020586 |
| |
| Complete genomic sequence of the human retinoblastoma susceptibility gene. |
| Toguchida J, McGee TL, Paterson JC, Eagle JR, Tucker S, Yandell DW, Dryja TP |
| Genomics. 1993 ; 17 (3) : 535-543. |
| PMID 7902321 |
| |
| The retinoblastoma protein and cell cycle control. |
| Weinberg RA |
| Cell. 1995 ; 81 (3) : 323-330. |
| PMID 7736585 |
| |
| Nomenclature |
|---|
| HGNC (Hugo) | RB1 9884 |
| LRG (Locus Reference Genomic) | LRG_517 |
| Cards |
|---|
| Atlas | RB1ID90 |
| Entrez_Gene (NCBI) | RB1 5925 RB transcriptional corepressor 1 |
| Aliases | OSRC; PPP1R130; RB; p105-Rb; |
| pRb; pp110 |
| GeneCards (Weizmann) | RB1 |
| Ensembl hg19 (Hinxton) | ENSG00000139687 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000139687 [Gene_View] chr13:48303747-48481890 [Contig_View] RB1 [Vega] |
| ICGC DataPortal | ENSG00000139687 |
| TCGA cBioPortal | RB1 |
| AceView (NCBI) | RB1 |
| Genatlas (Paris) | RB1 |
| WikiGenes | 5925 |
| SOURCE (Princeton) | RB1 |
| Genetics Home Reference (NIH) | RB1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | RB1 - chr13:48303747-48481890 + 13q14.2 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | RB1 - 13q14.2 [Description] (hg19-Feb_2009) |
| Ensembl | RB1 - 13q14.2 [CytoView hg19] RB1 - 13q14.2 [CytoView hg38] |
| Mapping of homologs : NCBI | RB1 [Mapview hg19] RB1 [Mapview hg38] |
| OMIM | 109800 180200 182280 259500 614041 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AB208788 AF043224 AK291258 AK299179 AK300284 |
| RefSeq transcript (Entrez) | NM_000321 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | RB1 |
| Cluster EST : Unigene | Hs.408528 [ NCBI ] |
| CGAP (NCI) | Hs.408528 |
| Alternative Splicing Gallery | ENSG00000139687 |
| Gene Expression | RB1 [ NCBI-GEO ] RB1 [ EBI - ARRAY_EXPRESS ]
RB1 [ SEEK ] RB1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | RB1 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 5925 |
| GTEX Portal (Tissue expression) | RB1 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P06400 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P06400 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P06400 |
| Splice isoforms : SwissVar | P06400 |
| PhosPhoSitePlus | P06400 |
| Domains : Interpro (EBI) | Cyclin-like RB1 RB_A RB_B RB_C RB_fam RB_N |
| 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) DUF3452 (SM01367) RB_A (SM01368) Rb_C (SM01369) |
| Conserved Domain (NCBI) | RB1 |
| DMDM Disease mutations | 5925 |
| Blocks (Seattle) | RB1 |
| PDB (SRS) | 1AD6 1GH6 1GUX 1H25 1N4M 1O9K 1PJM 2AZE 2QDJ 2R7G 3N5U 3POM 4CRI 4ELJ 4ELL |
| PDB (PDBSum) | 1AD6 1GH6 1GUX 1H25 1N4M 1O9K 1PJM 2AZE 2QDJ 2R7G 3N5U 3POM 4CRI 4ELJ 4ELL |
| PDB (IMB) | 1AD6 1GH6 1GUX 1H25 1N4M 1O9K 1PJM 2AZE 2QDJ 2R7G 3N5U 3POM 4CRI 4ELJ 4ELL |
| PDB (RSDB) | 1AD6 1GH6 1GUX 1H25 1N4M 1O9K 1PJM 2AZE 2QDJ 2R7G 3N5U 3POM 4CRI 4ELJ 4ELL |
| Structural Biology KnowledgeBase | 1AD6 1GH6 1GUX 1H25 1N4M 1O9K 1PJM 2AZE 2QDJ 2R7G 3N5U 3POM 4CRI 4ELJ 4ELL |
| SCOP (Structural Classification of Proteins) | 1AD6 1GH6 1GUX 1H25 1N4M 1O9K 1PJM 2AZE 2QDJ 2R7G 3N5U 3POM 4CRI 4ELJ 4ELL |
| CATH (Classification of proteins structures) | 1AD6 1GH6 1GUX 1H25 1N4M 1O9K 1PJM 2AZE 2QDJ 2R7G 3N5U 3POM 4CRI 4ELJ 4ELL |
| Superfamily | P06400 |
| Human Protein Atlas | ENSG00000139687 |
| Peptide Atlas | P06400 |
| HPRD | 01574 |
| IPI | IPI00302829 IPI01010522 IPI00383682 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P06400 |
| IntAct (EBI) | P06400 |
| FunCoup | ENSG00000139687 |
| BioGRID | RB1 |
| STRING (EMBL) | RB1 |
| ZODIAC | RB1 |
| Ontologies - Pathways |
|---|
| QuickGO | P06400 |
| Ontology : AmiGO | cell cycle checkpoint G1/S transition of mitotic cell cycle regulation of transcription involved in G1/S transition of mitotic cell cycle chromatin core promoter binding RNA polymerase II activating transcription factor binding regulation of cell growth tissue homeostasis molecular_function DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleus nucleoplasm nucleoplasm spindle chromatin remodeling transcription, DNA-templated regulation of transcription, DNA-templated negative regulation of protein kinase activity cell cycle arrest negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle mitotic cell cycle checkpoint Ras protein signal transduction regulation of mitotic cell cycle cyclin/CDK positive transcription elongation factor complex transcription factor binding negative regulation of gene expression viral process SWI/SNF complex covalent chromatin modification PML body kinase binding androgen receptor signaling pathway sister chromatid biorientation neuron projection development ubiquitin protein ligase binding maintenance of mitotic sister chromatid cohesion glial cell apoptotic process Rb-E2F complex Rb-E2F complex skeletal muscle cell differentiation neuron maturation identical protein binding enucleate erythrocyte differentiation negative regulation of sequence-specific DNA binding transcription factor activity regulation of lipid kinase activity myoblast differentiation positive regulation of macrophage differentiation positive regulation of mitotic metaphase/anaphase transition negative regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter digestive tract development cell morphogenesis involved in neuron differentiation negative regulation of epithelial cell proliferation androgen receptor binding striated muscle cell differentiation phosphoprotein binding cell division neuron apoptotic process importin-alpha family protein binding protein localization to chromosome, centromeric region cellular response to xenobiotic stimulus regulation of cohesin loading negative regulation of transcription involved in G1/S transition of mitotic cell cycle regulation of centromere complex assembly hepatocyte apoptotic process disordered domain specific binding negative regulation of G1/S transition of mitotic cell cycle positive regulation of transcription regulatory region DNA binding |
| Ontology : EGO-EBI | cell cycle checkpoint G1/S transition of mitotic cell cycle regulation of transcription involved in G1/S transition of mitotic cell cycle chromatin core promoter binding RNA polymerase II activating transcription factor binding regulation of cell growth tissue homeostasis molecular_function DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleus nucleoplasm nucleoplasm spindle chromatin remodeling transcription, DNA-templated regulation of transcription, DNA-templated negative regulation of protein kinase activity cell cycle arrest negative regulation of transcription from RNA polymerase II promoter during mitotic cell cycle mitotic cell cycle checkpoint Ras protein signal transduction regulation of mitotic cell cycle cyclin/CDK positive transcription elongation factor complex transcription factor binding negative regulation of gene expression viral process SWI/SNF complex covalent chromatin modification PML body kinase binding androgen receptor signaling pathway sister chromatid biorientation neuron projection development ubiquitin protein ligase binding maintenance of mitotic sister chromatid cohesion glial cell apoptotic process Rb-E2F complex Rb-E2F complex skeletal muscle cell differentiation neuron maturation identical protein binding enucleate erythrocyte differentiation negative regulation of sequence-specific DNA binding transcription factor activity regulation of lipid kinase activity myoblast differentiation positive regulation of macrophage differentiation positive regulation of mitotic metaphase/anaphase transition negative regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter digestive tract development cell morphogenesis involved in neuron differentiation negative regulation of epithelial cell proliferation androgen receptor binding striated muscle cell differentiation phosphoprotein binding cell division neuron apoptotic process importin-alpha family protein binding protein localization to chromosome, centromeric region cellular response to xenobiotic stimulus regulation of cohesin loading negative regulation of transcription involved in G1/S transition of mitotic cell cycle regulation of centromere complex assembly hepatocyte apoptotic process disordered domain specific binding negative regulation of G1/S transition of mitotic cell cycle positive regulation of transcription regulatory region DNA binding |
| Pathways : BIOCARTA | [Genes] |
| Pathways : KEGG | |
| REACTOME | P06400 [protein] |
| REACTOME Pathways | R-HSA-69656 [pathway] |
| NDEx Network | RB1 |
| Atlas of Cancer Signalling Network | RB1 |
| Wikipedia pathways | RB1 |
| Orthology - Evolution |
|---|
| OrthoDB | 5925 |
| GeneTree (enSembl) | ENSG00000139687 |
| Phylogenetic Trees/Animal Genes : TreeFam | RB1 |
| HOVERGEN | P06400 |
| HOGENOM | P06400 |
| Homologs : HomoloGene | RB1 |
| Homology/Alignments : Family Browser (UCSC) | RB1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | BBX/RB1 [3q13.12/13q14.2] [t(3;13)(q13;q14)] |
| Fusion : Mitelman | FNDC3A/RB1 [13q14.2/13q14.2] [t(13;13)(q14;q14)] |
| Fusion : Mitelman | ITM2B/RB1 [13q14.2/13q14.2] [t(13;13)(q14;q14)] |
| Fusion : Mitelman | RB1/CNIH3 [13q14.2/1q42.12] [t(1;13)(q42;q14)] |
| Fusion : Mitelman | RB1/ITM2B [13q14.2/13q14.2] [t(13;13)(q14;q14)] |
| Fusion : Mitelman | RB1/KCNRG [13q14.2/13q14.2] [t(13;13)(q14;q14)] |
| Fusion : Mitelman | RB1/MED4 [13q14.2/13q14.2] [t(13;13)(q14;q14)] |
| Fusion : Mitelman | RCBTB2/RB1 [13q14.2/13q14.2] [t(13;13)(q14;q14)] |
| Fusion : Mitelman | SH3PXD2A/RB1 [10q24.33/13q14.2] [t(10;13)(q24;q14)] |
| Fusion : Mitelman | VWA8/RB1 [13q14.11/13q14.2] [t(13;13)(q14;q14)] |
| Fusion: TCGA | BBX 3q13.12 RB1 13q14.2 BRCA |
| Fusion: TCGA | FNDC3A 13q14.2 RB1 13q14.2 BRCA |
| Fusion: TCGA | KIAA0564 RB1 13q14.2 BRCA |
| Fusion: TCGA | RB1 13q14.2 CNIH3 1q42.12 LUSC |
| Fusion: TCGA | RB1 13q14.2 KCNRG 13q14.2 OV |
| Fusion: TCGA | RB1 13q14.2 MED4 13q14.2 SKCM |
| Fusion: TCGA | RCBTB2 13q14.2 RB1 13q14.2 BRCA |
| Fusion: TCGA | SH3PXD2A 10q24.33 RB1 13q14.2 OV |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | RB1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | RB1 |
| dbVar | RB1 |
| ClinVar | RB1 |
| 1000_Genomes | RB1 |
| Exome Variant Server | RB1 |
| ExAC (Exome Aggregation Consortium) | RB1 (select the gene name) |
| Genetic variants : HAPMAP | 5925 |
| Genomic Variants (DGV) | RB1 [DGVbeta] |
| DECIPHER | RB1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | RB1 |
| Mutations |
|---|
| ICGC Data Portal | RB1 |
| TCGA Data Portal | RB1 |
| Broad Tumor Portal | RB1 |
| OASIS Portal | RB1 [ Somatic mutations - Copy number] |
| Cancer Gene: Census | RB1 |
| Somatic Mutations in Cancer : COSMIC | RB1 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | RB1 |
| intOGen Portal | RB1 |
| 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) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | SpainMDB |
| BioMuta | search RB1 |
| DgiDB (Drug Gene Interaction Database) | RB1 |
| DoCM (Curated mutations) | RB1 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | RB1 (select a term) |
| intoGen | RB1 |
| NCG5 (London) | RB1 |
| Cancer3D | RB1(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 109800 180200 182280 259500 614041 |
| Orphanet | 1090 22198 22197 10953 |
| Medgen | RB1 |
| Genetic Testing Registry | RB1
|
| NextProt | P06400 [Medical] |
| TSGene | 5925 |
| GENETests | RB1 |
| Target Validation | RB1 |
| Huge Navigator |
RB1 [HugePedia] |
| snp3D : Map Gene to Disease | 5925 |
| BioCentury BCIQ | RB1 |
| ClinGen | RB1 (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 5925 |
| Chemical/Pharm GKB Gene | PA295 |
| Drug Sensitivity | RB1 |
| Clinical trial | RB1 |
| Miscellaneous |
|---|
| canSAR (ICR) | RB1 (select the gene name) |
| Other database | RB1-gene mutation database |
| Other database | http://cancergenome.broadinstitute.org/index.php?tgene=RB1 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 499 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | RB1 |
| EVEX | RB1 |
| GoPubMed | RB1 |
| iHOP | RB1 |
