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RARA (Retinoic acid receptor, alpha)

Written2000-10Franck Vigué
Laboratoire de Cytogenetique - Service d'Hematologie Biologique, Hopital Hotel-Dieu - 75181 Paris Cedex 04, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesretinoic acid receptor
Alias_symbol (synonym)RAR
NR1B1
Other alias
HGNC (Hugo) RARA
LocusID (NCBI) 5914
Atlas_Id 46
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 40318221 and ends at 40357643 bp from pter ( according to hg19-Feb_2009)  [Mapping RARA.png]
 
  c-RARA (17q21) in normal cells: PAC 833D9 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
 
  RARA (Retinoic acid receptor, alpha) Hybridization with LSI RARA Dual Color, Break Apart Rearrangement Probe (Abbott Molecular, US), showing the RARA gene on 17q21.2 (red-green or a fused yellow signal - Courtesy Adriana Zamecnikova.
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
- () / RARA (17q21.2)BCOR (Xp11.4) / RARA (17q21.2)CELF2 (10p14) / RARA (17q21.2)
ETV6 (12p13.2) / RARA (17q21.2)FIP1L1 (4q12) / RARA (17q21.2)GTF2I (7q11.23) / RARA (17q21.2)
H2AFV (7p13) / RARA (17q21.2)IRF2BP2 (1q42.3) / RARA (17q21.2)KMT2A (11q23.3) / RARA (17q21.2)
NABP1 (2q32.3) / RARA (17q21.2)NPM1 (5q35.1) / RARA (17q21.2)NUMA1 (11q13.4) / RARA (17q21.2)
PML (15q24.1) / RARA (17q21.2)PRKAR1A (17q24.2) / RARA (17q21.2)RARA (17q21.2) / BRD4 (19p13.12)
RARA (17q21.2) / CA10 (17q21.33)RARA (17q21.2) / CDC6 (17q21.2)RARA (17q21.2) / CDK12 (17q12)
RARA (17q21.2) / COL10A1 (6q22.1)RARA (17q21.2) / HOXB3 (17q21.32)RARA (17q21.2) / KMT2A (11q23.3)
RARA (17q21.2) / MSL1 (17q21.1)RARA (17q21.2) / MYO1D (17q11.2)RARA (17q21.2) / NARS2 (11q14.1)
RARA (17q21.2) / NPM1 (5q35.1)RARA (17q21.2) / NUMA1 (11q13.4)RARA (17q21.2) / PCTP (17q22)
RARA (17q21.2) / PGAP3 (17q12)RARA (17q21.2) / PKIA (8q21.12)RARA (17q21.2) / PML (15q24.1)
RARA (17q21.2) / POLDIP2 (17q11.2)RARA (17q21.2) / PRKAR1A (17q24.2)RARA (17q21.2) / PRR11 (17q22)
RARA (17q21.2) / PSMD3 (17q21.1)RARA (17q21.2) / RARA (17q21.2)RARA (17q21.2) / RP11-1407O15.2 ()
RARA (17q21.2) / SKAP1 (17q21.32)RARA (17q21.2) / STAC2 (17q12)RARA (17q21.2) / STAT3 (17q21.2)
RARA (17q21.2) / STAT5B (17q21.2)RARA (17q21.2) / TIF1 ()RARA (17q21.2) / TMEM94 (17q25.1)
RARA (17q21.2) / TRIM24 (7q33)RARA (17q21.2) / WIPF2 (17q21.1)RARA (17q21.2) / ZBTB16 (11q23.2)
RARA (17q21.2) / ZNF145 ()RARA (17q21.2) / ZNF595 (4p16.3)SNU13 (22q13.2) / RARA (17q21.2)
STAT5A (17q21.2) / RARA (17q21.2)STAT5B (17q21.2) / RARA (17q21.2)TAOK1 (17q11.2) / RARA (17q21.2)
TBL1XR1 (3q26.32) / RARA (17q21.2)TMEM11 (17p11.2) / RARA (17q21.2)TPCN2 (11q13.3) / RARA (17q21.2)
TRIM24 (7q33) / RARA (17q21.2)ZBTB16 (11q23.2) / RARA (17q21.2)

DNA/RNA

Description 9 exons; total gene sequence: 7450 bp
Transcription 2.8 and 3.6 kb transcripts

Protein

 
Description 462 amino acids - 5 functional domains A/B (transcriptional regulation), C (DNA binding domain, contains 2 zinc fingers), D (cellular localization signal), E (ligand-binding domain) and F (function?)
Expression in hematopoietic cells
Localisation nuclear
Function
  • ligand-dependent transcription factor specifically involved in hematopoietic cells differentiation and maturation = receptor for all-trans retinoic acid (ATRA) and 9-cis RA which are intracellular metabolites of vitamine A, active in cellular differentiation and morphogenesis
  • after linking with ATRA, RARA binds with a high affinity as a heterodimer with RXR (retinoid X receptor protein) to the RARE domain (retinoic acid response elements), a DNA sequence common to a number of genes and located in their promoter
  • the gene response to RARA binding is modulated by a series of co-repressors and co-activators
    • Homology with RARB and RARG (retinoic acid receptors ? and ?), 9-cis RA receptors (RXRs) and receptors for thyroid and steroid hormones and for vitamine D3

    Implicated in

    Note
      
    Entity t(15;17)(q24;q21) / acute promyelocytic leukemia (APL) -->PML - -RARA
    Disease typical APL (or M3 AML, FAB classification), approximately 98% of APL cases; abnormal promyelocytes with Auer rods and bundles (faggots); disruption of the PODs with a microspeckeled pattern; maturation response to all-trans retinoic acid (ATRA) therapy
    Prognosis immediate prognosis impaired by intravascular disseminated coagulopathy; long term prognosis is favorable with treatment combining ATRA plus chemotherapy
    Cytogenetics variant or complex t(15;17) translocation in 5% of cases, no known prognosis implication; secondary chromosomal abnormalities in 30 to 35% of APL at diagnosis; association with +8 in 17 to 28% of cases; other associations are rare but recurrent: del(7q), del(9q), ider(17)t(15;17), +21
    Hybrid/Mutated Gene
  • the crucial fusion transcript is 5'PML-3'RARA, encoded by der(15) chromosome; the counterpart 5'RARA-3'PML encoded by der(17) is inconstant
  • breakpoint in RARA gene is always located in intron between A and B domains
  • three breakpoint clusters in PML gene: bcr1 (70% of patients), bcr2 (10%) and bcr3 (20%), giving rise respectively to the long (L), intermediate (V) and short (S) length hybrid PML-RARAtranscripts; V form would be linked to ATRA decreased sensitivity and S form to association with an excess of secondary chromosome changes.
    • Abnormal Protein 106 Kda fusion protein; role in the leukemogenic process by probable interference with the signalling pathway leading to differentiation and maturation of myeloid precursors (mainly dysregulation of retinoid-inducible genes involved in myeloid differentiation)
      
      
    Entity t(11;17)(q23;q12) / acute promyelocytic leukemia -->PLZF- -RARA
    Disease variant acute promyelocytic leukemia (APL) form with atypical cytologic aspects (intermediate morphology between M2 and M3, no Auer rods) and no response to ATRA therapy; less than 1% of APL cases.
      
      
    Entity t(5;17)(q35;q12) / acute promyelocytic leukemia --> NPM- -RARA
    Disease exceptional; probable response to ATRA
      
      
    Entity t(11;17)(q13;q12) / acute promyelocytic leukemia --> NuMA- -RARA
    Disease exceptional: probable response to ATRA
      
      
    Entity t(11;17)(q23;q12) / M5 acute non lymphocytic leukemia --> KMT2A -RARA
    Disease 1 case to date; not to be confused with the t(11;17)(q23;q12) mentioned above; not found in APL; belongs to the MLL/11q23 leukemias
      

    Breakpoints

     

    Bibliography

    Genetics of APL and the molecular basis of retinoic acid treatment.
    Casini T, Grignani F, Pelicci PG
    International journal of cancer. Journal international du cancer. 1997 ; 70 (4) : 473-474.
    PMID 9033658
     
    The pathogenesis of acute promyelocytic leukaemia: evaluation of the role of molecular diagnosis and monitoring in the management of the disease.
    Grimwade D
    British journal of haematology. 1999 ; 106 (3) : 591-613.
    PMID 10468848
     
    Chromosomal translocation t(15;17) in human acute promyelocytic leukemia fuses RAR alpha with a novel putative transcription factor, PML.
    Kakizuka A, Miller WH Jr, Umesono K, Warrell RP Jr, Frankel SR, Murty VV, Dmitrovsky E, Evans RM
    Cell. 1991 ; 66 (4) : 663-674.
    PMID 1652368
     
    Deconstructing a disease: RARalpha, its fusion partners, and their roles in the pathogenesis of acute promyelocytic leukemia.
    Melnick A, Licht JD
    Blood. 1999 ; 93 (10) : 3167-3215.
    PMID 10233871
     
    Characterization of the PML-RAR alpha chimeric product of the acute promyelocytic leukemia-specific t(15;17) translocation.
    Nervi C, Poindexter EC, Grignani F, Pandolfi PP, Lo Coco F, Avvisati G, Pelicci PG, Jetten AM
    Cancer research. 1992 ; 52 (13) : 3687-3692.
    PMID 1319828
     
    The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus.
    de Thé H, Chomienne C, Lanotte M, Degos L, Dejean A
    Nature. 1990 ; 347 (6293) : 558-561.
    PMID 2170850
     

    Citation

    This paper should be referenced as such :
    Viguié, F
    RARA (retinoic acid receptor, alpha)
    Atlas Genet Cytogenet Oncol Haematol. 2000;4(4):195-196.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/RARAID46.html

    Other Leukemias implicated (Data extracted from papers in the Atlas)

    Leukemias M3ANLLID1240 t0117p34q21ID1603 t0217q32q21ID1601 t0317q26q21ID1602 t0417q12q21ID1470
    t0717q11q21ID1711 t0X17p11q21ID1594 t1117ID1028 t1117ID1126 t1117ID1179
    t1517ID1035 t1717q21q21ID1456 t1717q21q24ID1497 t517ID1081 TL_ins1517q22q21q21ID3101
    TL_ins1517q22q21q26ID3100 TL_t1217p13q21ID1694

    Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 21 ]

    Solid Tumors TT_t0417p16q21ID106275 TT_t0617q22q21ID106973 TT_t0817q21q21ID107931 TT_t1117q13q21ID100982 TT_t1117q14q21ID100997
    TT_t1717q11q21ID102454 TT_t1717q11q21ID102455 TT_t1717q11q21ID102457 TT_t1717q12q21ID102520 TT_t1717q12q21ID102521
    TT_t1717q12q21ID102522 TT_t1717q21q21ID102593 TT_t1717q21q21ID102594 TT_t1717q21q21ID102595 TT_t1717q21q21ID102596
    TT_t1717q21q21ID102597 TT_t1717q21q21ID102598 TT_t1717q21q21ID102599 TT_t1717q21q22ID102632 TT_t1717q21q22ID102633
    TT_t1717q21q22ID102634

    External links

    Nomenclature
    HGNC (Hugo)RARA   9864
    LRG (Locus Reference Genomic)LRG_1070
    Cards
    AtlasRARAID46
    Entrez_Gene (NCBI)RARA  5914  retinoic acid receptor alpha
    AliasesNR1B1; RAR
    GeneCards (Weizmann)RARA
    Ensembl hg19 (Hinxton)ENSG00000131759 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000131759 [Gene_View]  ENSG00000131759 [Sequence]  chr17:40318221-40357643 [Contig_View]  RARA [Vega]
    ICGC DataPortalENSG00000131759
    TCGA cBioPortalRARA
    AceView (NCBI)RARA
    Genatlas (Paris)RARA
    WikiGenes5914
    SOURCE (Princeton)RARA
    Genetics Home Reference (NIH)RARA
    Genomic and cartography
    GoldenPath hg38 (UCSC)RARA  -     chr17:40318221-40357643 +  17q21.2   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)RARA  -     17q21.2   [Description]    (hg19-Feb_2009)
    GoldenPathRARA - 17q21.2 [CytoView hg19]  RARA - 17q21.2 [CytoView hg38]
    ImmunoBaseENSG00000131759
    Mapping of homologs : NCBIRARA [Mapview hg19]  RARA [Mapview hg38]
    OMIM180240   612376   
    Gene and transcription
    Genbank (Entrez)AK098172 AK130192 AK292205 AK303868 AK312564
    RefSeq transcript (Entrez)NM_000964 NM_001024809 NM_001033603 NM_001145301 NM_001145302
    RefSeq genomic (Entrez)
    Consensus coding sequences : CCDS (NCBI)RARA
    Cluster EST : UnigeneHs.654583 [ NCBI ]
    CGAP (NCI)Hs.654583
    Alternative Splicing GalleryENSG00000131759
    Gene ExpressionRARA [ NCBI-GEO ]   RARA [ EBI - ARRAY_EXPRESS ]   RARA [ SEEK ]   RARA [ MEM ]
    Gene Expression Viewer (FireBrowse)RARA [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)5914
    GTEX Portal (Tissue expression)RARA
    Human Protein AtlasENSG00000131759-RARA [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtP10276   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtP10276  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProP10276
    Splice isoforms : SwissVarP10276
    PhosPhoSitePlusP10276
    Domaine pattern : Prosite (Expaxy)NR_LBD (PS51843)    NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
    Domains : Interpro (EBI)NHR_like_dom_sf    Nucl_hrmn_rcpt_lig-bd    Nuclear_hrmn_rcpt    Retinoic_acid_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
    Domain families : Pfam (Sanger)Hormone_recep (PF00104)    zf-C4 (PF00105)   
    Domain families : Pfam (NCBI)pfam00104    pfam00105   
    Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
    Conserved Domain (NCBI)RARA
    DMDM Disease mutations5914
    Blocks (Seattle)RARA
    PDB (RSDB)1DKF    1DSZ    3A9E    3KMR    3KMZ    4DQM    5K13   
    PDB Europe1DKF    1DSZ    3A9E    3KMR    3KMZ    4DQM    5K13   
    PDB (PDBSum)1DKF    1DSZ    3A9E    3KMR    3KMZ    4DQM    5K13   
    PDB (IMB)1DKF    1DSZ    3A9E    3KMR    3KMZ    4DQM    5K13   
    Structural Biology KnowledgeBase1DKF    1DSZ    3A9E    3KMR    3KMZ    4DQM    5K13   
    SCOP (Structural Classification of Proteins)1DKF    1DSZ    3A9E    3KMR    3KMZ    4DQM    5K13   
    CATH (Classification of proteins structures)1DKF    1DSZ    3A9E    3KMR    3KMZ    4DQM    5K13   
    SuperfamilyP10276
    Human Protein Atlas [tissue]ENSG00000131759-RARA [tissue]
    Peptide AtlasP10276
    HPRD06769
    IPIIPI00020071   IPI00218375   IPI00908598   IPI00470378   IPI00922641   IPI00014923   IPI00791851   
    Protein Interaction databases
    DIP (DOE-UCLA)P10276
    IntAct (EBI)P10276
    FunCoupENSG00000131759
    BioGRIDRARA
    STRING (EMBL)RARA
    ZODIACRARA
    Ontologies - Pathways
    QuickGOP10276
    Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  nuclear chromatin  translation repressor activity, mRNA regulatory element binding  transcription regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  ureteric bud development  neural tube closure  liver development  retinoic acid binding  glandular epithelial cell development  outflow tract septum morphogenesis  growth plate cartilage development  DNA-binding transcription factor activity  steroid hormone receptor activity  transcription coactivator activity  transcription coactivator activity  transcription corepressor activity  nuclear receptor activity  signaling receptor binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  transcription initiation from RNA polymerase II promoter  protein phosphorylation  signal transduction  multicellular organism development  germ cell development  spermatogenesis  female pregnancy  transcription factor binding  transcription factor binding  drug binding  zinc ion binding  positive regulation of cell proliferation  negative regulation of cell proliferation  hormone-mediated signaling pathway  cell surface  actin cytoskeleton  negative regulation of translation  enzyme binding  protein domain specific binding  hippocampus development  cell differentiation  nuclear receptor transcription coactivator activity  dendrite  prostate gland development  negative regulation of granulocyte differentiation  embryonic camera-type eye development  chromatin DNA binding  regulation of myelination  response to estradiol  response to retinoic acid  response to retinoic acid  negative regulation of interferon-gamma production  negative regulation of tumor necrosis factor production  positive regulation of interleukin-13 production  positive regulation of interleukin-4 production  positive regulation of interleukin-5 production  response to vitamin A  response to lipid  response to cytokine  multicellular organism growth  signaling receptor activity  signaling receptor activity  histone deacetylase binding  negative regulation of apoptotic process  apoptotic cell clearance  steroid hormone mediated signaling pathway  protein kinase B binding  retinoic acid-responsive element binding  response to ethanol  positive regulation of T-helper 2 cell differentiation  positive regulation of neuron differentiation  positive regulation of cell cycle  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  mRNA 5'-UTR binding  regulation of synaptic plasticity  retinoic acid receptor signaling pathway  retinoic acid receptor signaling pathway  perinuclear region of cytoplasm  gland development  protein kinase A binding  positive regulation of binding  alpha-actinin binding  ventricular cardiac muscle cell differentiation  Sertoli cell fate commitment  limb development  face development  bone morphogenesis  epithelium development  trachea cartilage development  chondroblast differentiation  negative regulation of cartilage development  cellular response to lipopolysaccharide  cellular response to retinoic acid  cellular response to retinoic acid  cellular response to estrogen stimulus  RNA polymerase II transcription factor complex  
    Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  nuclear chromatin  translation repressor activity, mRNA regulatory element binding  transcription regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  ureteric bud development  neural tube closure  liver development  retinoic acid binding  glandular epithelial cell development  outflow tract septum morphogenesis  growth plate cartilage development  DNA-binding transcription factor activity  steroid hormone receptor activity  transcription coactivator activity  transcription coactivator activity  transcription corepressor activity  nuclear receptor activity  signaling receptor binding  protein binding  nucleus  nucleus  nucleoplasm  cytoplasm  cytosol  transcription initiation from RNA polymerase II promoter  protein phosphorylation  signal transduction  multicellular organism development  germ cell development  spermatogenesis  female pregnancy  transcription factor binding  transcription factor binding  drug binding  zinc ion binding  positive regulation of cell proliferation  negative regulation of cell proliferation  hormone-mediated signaling pathway  cell surface  actin cytoskeleton  negative regulation of translation  enzyme binding  protein domain specific binding  hippocampus development  cell differentiation  nuclear receptor transcription coactivator activity  dendrite  prostate gland development  negative regulation of granulocyte differentiation  embryonic camera-type eye development  chromatin DNA binding  regulation of myelination  response to estradiol  response to retinoic acid  response to retinoic acid  negative regulation of interferon-gamma production  negative regulation of tumor necrosis factor production  positive regulation of interleukin-13 production  positive regulation of interleukin-4 production  positive regulation of interleukin-5 production  response to vitamin A  response to lipid  response to cytokine  multicellular organism growth  signaling receptor activity  signaling receptor activity  histone deacetylase binding  negative regulation of apoptotic process  apoptotic cell clearance  steroid hormone mediated signaling pathway  protein kinase B binding  retinoic acid-responsive element binding  response to ethanol  positive regulation of T-helper 2 cell differentiation  positive regulation of neuron differentiation  positive regulation of cell cycle  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  protein heterodimerization activity  mRNA 5'-UTR binding  regulation of synaptic plasticity  retinoic acid receptor signaling pathway  retinoic acid receptor signaling pathway  perinuclear region of cytoplasm  gland development  protein kinase A binding  positive regulation of binding  alpha-actinin binding  ventricular cardiac muscle cell differentiation  Sertoli cell fate commitment  limb development  face development  bone morphogenesis  epithelium development  trachea cartilage development  chondroblast differentiation  negative regulation of cartilage development  cellular response to lipopolysaccharide  cellular response to retinoic acid  cellular response to retinoic acid  cellular response to estrogen stimulus  RNA polymerase II transcription factor complex  
    Pathways : KEGGPathways in cancer    Transcriptional misregulation in cancer    Acute myeloid leukemia   
    REACTOMEP10276 [protein]
    REACTOME PathwaysR-HSA-5617472 [pathway]   
    NDEx NetworkRARA
    Atlas of Cancer Signalling NetworkRARA
    Wikipedia pathwaysRARA
    Orthology - Evolution
    OrthoDB5914
    GeneTree (enSembl)ENSG00000131759
    Phylogenetic Trees/Animal Genes : TreeFamRARA
    HOGENOMP10276
    Homologs : HomoloGeneRARA
    Homology/Alignments : Family Browser (UCSC)RARA
    Gene fusions - Rearrangements
    Fusion : Mitelman-/17q21.2 [RARA/ins(15;17)(q22;q21q21)|ins(15;17)(q22;q21q26)]  
    Fusion : MitelmanBCOR/RARA [Xp11.4/17q21.2]  [t(X;17)(p11;q21)]  
    Fusion : MitelmanFIP1L1/RARA [4q12/17q21.2]  [t(4;17)(q12;q21)]  
    Fusion : MitelmanGTF2I/RARA [7q11.23/17q21.2]  [t(7;17)(q11;q21)]  
    Fusion : MitelmanNABP1/RARA [2q32.3/17q21.2]  [t(2;17)(q32;q21)]  
    Fusion : MitelmanNPM1/RARA [5q35.1/17q21.2]  [t(11;17)(q23;q21)]  [t(15;17)(q22;q21)]  
    [t(5;17)(q35;q21)]  
    Fusion : MitelmanNUMA1/RARA [11q13.4/17q21.2]  [t(11;17)(q13;q21)]  
    Fusion : MitelmanPML/RARA [15q24.1/17q21.2]  [ins(15;17)(q22;q21q21)]  [ins(17;15)(q21;q22q22)]  
    [ins(4;15)(q21;q?q22)t(15;17)(q22;q21)]  [t(11;17)(q23;q21)]  [t(11;17;15)(q13;q21;q22)]  
    [t(13;17;15)(p13;q21;q22)]  [t(15;17)(q22;q21)]  [t(15;17;16)(q22;q21;q13)]  [t(15;17;18)(q22;q21;q12)]  
    [t(15;17;19)(q22;q21;q13)]  [t(1;17;15)(p32;q21;q22)]  [t(3;17;15)(p21;q21;q22)]  [t(3;17;15)(q27;q21;q22)]  
    [t(5;17)(q35;q21)]  [t(5;17;15)(q11;q21;q22)]  [t(5;17;15)(q14;q21;q22)]  [t(5;17;15)(q35;q21;q22)]  
    [t(6;17;15)(p21;q21;q22)]  [t(7;17;15)(q22;q21;q22)]  [t(8;17;15)(q22;q21;q22)]  [t(8;17;15)(q24;q21;q22)]  
    [t(9;17;15)(q31;q21;q22)]  
    Fusion : MitelmanPRKAR1A/RARA [17q24.2/17q21.2]  [t(17;17)(q21;q24)]  
    Fusion : MitelmanRARA/CA10 [17q21.2/17q21.33]  [t(17;17)(q21;q22)]  
    Fusion : MitelmanRARA/CDC6 [17q21.2/17q21.2]  [t(17;17)(q21;q21)]  
    Fusion : MitelmanRARA/CDK12 [17q21.2/17q12]  [t(17;17)(q12;q21)]  
    Fusion : MitelmanRARA/COL10A1 [17q21.2/6q22.1]  [t(6;17)(q22;q21)]  
    Fusion : MitelmanRARA/HOXB3 [17q21.2/17q21.32]  [t(17;17)(q21;q21)]  
    Fusion : MitelmanRARA/MSL1 [17q21.2/17q21.1]  [t(17;17)(q21;q21)]  
    Fusion : MitelmanRARA/MYO1D [17q21.2/17q11.2]  [t(17;17)(q11;q21)]  
    Fusion : MitelmanRARA/NARS2 [17q21.2/11q14.1]  [t(11;17)(q14;q21)]  
    Fusion : MitelmanRARA/PCTP [17q21.2/17q22]  [t(17;17)(q21;q22)]  
    Fusion : MitelmanRARA/PGAP3 [17q21.2/17q12]  [t(17;17)(q12;q21)]  
    Fusion : MitelmanRARA/PKIA [17q21.2/8q21.12]  [t(8;17)(q21;q21)]  
    Fusion : MitelmanRARA/PML [17q21.2/15q24.1]  [t(15;17)(q22;q21)]  
    Fusion : MitelmanRARA/POLDIP2 [17q21.2/17q11.2]  [t(17;17)(q11;q21)]  
    Fusion : MitelmanRARA/PRR11 [17q21.2/17q22]  [t(17;17)(q21;q22)]  
    Fusion : MitelmanRARA/PSMD3 [17q21.2/17q21.1]  [t(17;17)(q21;q21)]  
    Fusion : MitelmanRARA/SKAP1 [17q21.2/17q21.32]  [t(17;17)(q21;q21)]  
    Fusion : MitelmanRARA/STAC2 [17q21.2/17q12]  [t(17;17)(q12;q21)]  
    Fusion : MitelmanRARA/STAT3 [17q21.2/17q21.2]  [t(17;17)(q21;q21)]  
    Fusion : MitelmanRARA/WIPF2 [17q21.2/17q21.1]  [t(17;17)(q21;q21)]  
    Fusion : MitelmanRARA/ZNF595 [17q21.2/4p16.3]  [t(4;17)(p16;q21)]  
    Fusion : MitelmanSTAT5B/RARA [17q21.2/17q21.2]  [t(17;17)(q21;q21)]  
    Fusion : MitelmanTAOK1/RARA [17q11.2/17q21.2]  [t(17;17)(q11;q21)]  
    Fusion : MitelmanTBL1XR1/RARA [3q26.32/17q21.2]  [t(3;17)(q26;q21)]  
    Fusion : MitelmanTPCN2/RARA [11q13.3/17q21.2]  [t(11;17)(q13;q21)]  
    Fusion : MitelmanZBTB16/RARA [11q23.2/17q21.2]  [ins(11;17)(q23;q21q21)]  [t(11;17)(q23;q21)]  
    [t(15;17)(q22;q21)]  [t(5;17)(q35;q21)]  
    Fusion : COSMICPML [15q24.1]  -  RARA [17q21.2]  [fusion_2299]  [fusion_2300]  [fusion_2301]  [fusion_2302]  [fusion_2304]  [fusion_2305]  [fusion_2307]  
    [fusion_2310]  [fusion_2311]  [fusion_2312]  [fusion_2313]  [fusion_2316]  [fusion_2317]  [fusion_2318]  [fusion_2320]  [fusion_2322]  
    Fusion PortalPML 15q24.1 RARA 17q21.2 LAML
    Fusion PortalRARA 17q21.2 CA10 17q21.33 BRCA
    Fusion PortalRARA 17q21.2 CDC6 17q21.2 LUAD
    Fusion PortalRARA 17q21.2 CDK12 17q12 BRCA
    Fusion PortalRARA 17q21.2 COL10A1 6q22.1 BRCA
    Fusion PortalRARA 17q21.2 HOXB3 17q21.32 BRCA
    Fusion PortalRARA 17q21.2 MSL1 17q21.1 BRCA
    Fusion PortalRARA 17q21.2 MYO1D 17q11.2 BRCA
    Fusion PortalRARA 17q21.2 PCTP 17q22 BRCA
    Fusion PortalRARA 17q21.2 PGAP3 17q12 BRCA
    Fusion PortalRARA 17q21.2 PML 15q24.1 LAML
    Fusion PortalRARA 17q21.2 PRR11 17q22 BRCA
    Fusion PortalRARA 17q21.2 PSMD3 17q21.1 BRCA
    Fusion PortalRARA 17q21.2 RP11-1407O15.2 BRCA
    Fusion PortalRARA 17q21.2 SKAP1 17q21.32 BRCA
    Fusion PortalRARA 17q21.2 STAC2 17q12 LUAD
    Fusion PortalRARA 17q21.2 STAT3 17q21.2 BRCA
    Fusion PortalRARA 17q21.2 WIPF2 17q21.1 BRCA
    Fusion PortalRARA 17q21.2 ZNF595 4p16.3 BRCA
    Fusion PortalTAOK1 17q11.2 RARA 17q21.2 GBM
    Fusion PortalTPCN2 11q13.3 RARA 17q21.2 BRCA
    Fusion : TICdbBCOR [Xp11.4]  -  RARA [17q21.2]
    Fusion : TICdbFIP1L1 [4q12]  -  RARA [17q21.2]
    Fusion : TICdbNABP1 [2q32.3]  -  RARA [17q21.2]
    Fusion : TICdbNPM1 [5q35.1]  -  RARA [17q21.2]
    Fusion : TICdbNUMA1 [11q13.4]  -  RARA [17q21.2]
    Fusion : TICdbPML [15q24.1]  -  RARA [17q21.2]
    Fusion : TICdbPRKAR1A [17q24.2]  -  RARA [17q21.2]
    Fusion : TICdbSTAT5B [17q21.2]  -  RARA [17q21.2]
    Fusion : TICdbZBTB16 [11q23.2]  -  RARA [17q21.2]
    Fusion : FusionGDB15771    22862    23109    24740    25155    27793    28695    30460    30461    30462    30463    30464    30465    30466    30467   
    30468    30469    30470    30471    30472    30473    30474    30475    30476    30477    30478    30479    30480    30481    30482   
    30483    30484    30485    30486    30487    30488    31596    320    33554    34849    35759    37225    39186    4079    42525   
    6729   
    Fusion : Fusion_HubACACA--RARA    ACSS1--RARA    AGPAT3--RARA    ALK--RARA    BCAS3--RARA    BCL6--RARA    BCOR--RARA    BPTF--RARA    BRD4--RARA    CASC3--RARA    CCDC170--RARA    CELF2--RARA    CTD-3088G3.8--RARA    CXCR4--RARA    ERBB2--RARA   
    FBXL20--RARA    FIP1L1--RARA    FNDC3B--RARA    GOLGA4--RARA    GPR160--RARA    GTF2I--RARA    H2AFV--RARA    HOXB3--RARA    HOXB6--RARA    IKZF3--RARA    IRF2BP2--RARA    KDM6B--RARA    KMT2A--RARA    KRT14--RARA    MCL1--RARA   
    MED1--RARA    MED24--RARA    MLL--RARA    MYH10--RARA    MYO1D--RARA    NABP1--RARA    NARS2--RARA    NHP2L1--RARA    NPM1--RARA    NUMA1--RARA    OBFC2A--RARA    PCTP--RARA    PGAP3--RARA    PITPNC1--RARA    PKIA--RARA   
    PLA2G4D--RARA    PLXDC1--RARA    PLZF--RARA    PML--RARA    POLDIP2--RARA    PPFIA1--RARA    PRKAR1A--RARA    PRR11--RARA    RAB6A--RARA    RARA--41526    RARA--AC015821.1    RARA--ANKFN1    RARA--ATAD3A    RARA--B2M    RARA--BASP1   
    RARA--BCOR    RARA--BRD4    RARA--C16ORF45    RARA--C17ORF108    RARA--C17ORF62    RARA--CA10    RARA--CDC6    RARA--CDK12    RARA--CERS4    RARA--COL10A1    RARA--DPP9    RARA--EIF2B5    RARA--FIP1L1    RARA--FLNA    RARA--GNAS   
    RARA--GTF2I    RARA--HMGB1    RARA--HOXB3    RARA--IRF2BP2    RARA--ITGAX    RARA--KIAA0195    RARA--LGALS16    RARA--LIFR    RARA--LTBP1    RARA--METRNL    RARA--MFSD10    RARA--MPO    RARA--MRC2    RARA--MSL1    RARA--MYL   
    RARA--MYO1D    RARA--NARS2    RARA--NPM    RARA--NPM1    RARA--NUMA    RARA--NUMA1    RARA--OBFC2A    RARA--PCTP    RARA--PGAP3    RARA--PHRF1    RARA--PKIA    RARA--PL    RARA--PLZF    RARA--PMI    RARA--PML   
    RARA--PPP1R13B    RARA--PRKAR1A    RARA--PRR11    RARA--PSMD3    RARA--PTMS    RARA--RARA    RARA--RASSF3    RARA--RBM4    RARA--RCN1    RARA--RP11-1407O15.2    RARA--SAE1    RARA--SKA2    RARA--SKAP1    RARA--SLC9A3R1    RARA--STAC2   
    RARA--STAT3    RARA--STAT5B    RARA--STXBP1    RARA--TBLR1    RARA--TIF1    RARA--TRIM24    RARA--TSPYL4    RARA--UBTF    RARA--USP22    RARA--USP32    RARA--VPS13B    RARA--WIPF2    RARA--ZBTB16    RARA--ZNF145    RARA--ZNF276   
    RARA--ZNF595    RARA--ZNF718    RARA--ZNF732    RNF43--RARA    RXRA--RARA    SMARCE1--RARA    SMS--RARA    SPOP--RARA    STAT3--RARA    STAT5B--RARA    TAOK1--RARA    TBLR1--RARA    TCFL5--RARA    TPCN2--RARA    WDR59--RARA   
    ZBTB16--RARA   
    Fusion : QuiverRARA
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerRARA [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)RARA
    dbVarRARA
    ClinVarRARA
    1000_GenomesRARA 
    Exome Variant ServerRARA
    ExAC (Exome Aggregation Consortium)ENSG00000131759
    GNOMAD BrowserENSG00000131759
    Varsome BrowserRARA
    Genetic variants : HAPMAP5914
    Genomic Variants (DGV)RARA [DGVbeta]
    DECIPHERRARA [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisRARA 
    Mutations
    ICGC Data PortalRARA 
    TCGA Data PortalRARA 
    Broad Tumor PortalRARA
    OASIS PortalRARA [ Somatic mutations - Copy number]
    Somatic Mutations in Cancer : COSMICRARA  [overview]  [genome browser]  [tissue]  [distribution]  
    Somatic Mutations in Cancer : COSMIC3DRARA
    Mutations and Diseases : HGMDRARA
    LOVD (Leiden Open Variation Database)Whole genome datasets
    LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
    BioMutasearch RARA
    DgiDB (Drug Gene Interaction Database)RARA
    DoCM (Curated mutations)RARA (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)RARA (select a term)
    intoGenRARA
    NCG5 (London)RARA
    Cancer3DRARA(select the gene name)
    Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM180240    612376   
    Orphanet8559   
    DisGeNETRARA
    MedgenRARA
    Genetic Testing Registry RARA
    NextProtP10276 [Medical]
    TSGene5914
    GENETestsRARA
    Target ValidationRARA
    Huge Navigator RARA [HugePedia]
    snp3D : Map Gene to Disease5914
    BioCentury BCIQRARA
    ClinGenRARA
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD5914
    Chemical/Pharm GKB GenePA34225
    Clinical trialRARA
    Miscellaneous
    canSAR (ICR)RARA (select the gene name)
    DataMed IndexRARA
    Probes
    Litterature
    PubMed414 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineRARA
    EVEXRARA
    GoPubMedRARA
    iHOPRARA
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

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