RARA (Retinoic acid receptor, alpha)

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RARA (Retinoic acid receptor, alpha)

Written	2000-10	Franck 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_names	retinoic acid receptor, alpha
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) [ 17 ]

M3/M3v acute myeloid leukemia (AML M3/M3v)
::Acute promyelocytic leukemia (APL)
::Acute promyelocytic leukemia (APL) PML/RARA
t(1;17)(q42;q21) IRF2BP2/RARA
t(2;17)(q32;q21) NABP1/RARA
t(3;17)(q26;q12-21) TBL1XR1/RARA
t(4;17)(q12;q21) FIP1L1/RARA
t(7;17)(q11;q21) GTF2I/RARA in APL
t(X;17)(p11;q21) BCOR/RARA
t(11;17)(q23;q21) ZBTB16/RARA
t(11;17)(q13;q21) NUMA1/RARA
t(11;17)(q23;q12) KMT2A/RARA
t(15;17)(q24;q21) PML/RARA
t(17;17)(q21;q21) STAT5B/RARA::dup(17)(q12q21) STAT5B/RARA
t(17;17)(q21;q24) PRKAR1A/RARA::del(17)(q21q24) PRKAR1A/RARA
t(5;17)(q35;q21) NPM1/RARA
ins(15;17)(q22;q21q21) PML/CDC6/RARA
ins(15;17)(q22;q21q26) PML/ADAMTS17/RARA
t(12;17)(p13;q21) ETV6/RARA

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

t(4;17)(p16;q21) RARA/ZNF595
t(6;17)(q22;q21) RARA/COL10A1
t(8;17)(q21;q21) RARA/PKIA
t(11;17)(q13;q21) TPCN2/RARA
t(11;17)(q14;q21) RARA/NARS2
t(17;17)(q11;q21) RARA/MYO1D
t(17;17)(q11;q21) RARA/POLDIP2
t(17;17)(q11;q21) TAOK1/RARA
t(17;17)(q12;q21) RARA/CDK12
t(17;17)(q12;q21) RARA/PGAP3
t(17;17)(q12;q21) RARA/STAC2
RARA/CDC6 (17q21)
RARA/HOXB3 (17q21)
RARA/MSL1 (17q21)
RARA/PSMD3 (17q21)
RARA/SKAP1 (17q21)
RARA/STAT3 (17q21)
RARA/WIPF2 (17q21)
t(17;17)(q21;q22) RARA/CA10
t(17;17)(q21;q22) RARA/PCTP
t(17;17)(q21;q22) RARA/PRR11

External links

	Nomenclature
HGNC (Hugo)	RARA 9864
LRG (Locus Reference Genomic)	LRG_1070
	Cards
Atlas	RARAID46
Entrez_Gene (NCBI)	RARA 5914 retinoic acid receptor alpha
Aliases	NR1B1; 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 DataPortal	ENSG00000131759
TCGA cBioPortal	RARA
AceView (NCBI)	RARA
Genatlas (Paris)	RARA
WikiGenes	5914
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)
GoldenPath	RARA - 17q21.2 [CytoView hg19] RARA - 17q21.2 [CytoView hg38]
ImmunoBase	ENSG00000131759
Mapping of homologs : NCBI	RARA [Mapview hg19] RARA [Mapview hg38]
OMIM	180240 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 : Unigene	Hs.654583 [ NCBI ]
CGAP (NCI)	Hs.654583
Alternative Splicing Gallery	ENSG00000131759
Gene Expression	RARA [ 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]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	5914
GTEX Portal (Tissue expression)	RARA
Human Protein Atlas	ENSG00000131759-RARA [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P10276 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P10276 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P10276
Splice isoforms : SwissVar	P10276
PhosPhoSitePlus	P10276
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 mutations	5914
Blocks (Seattle)	RARA
PDB (RSDB)	1DKF 1DSZ 3A9E 3KMR 3KMZ 4DQM 5K13
PDB Europe	1DKF 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 KnowledgeBase	1DKF 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
Superfamily	P10276
Human Protein Atlas [tissue]	ENSG00000131759-RARA [tissue]
Peptide Atlas	P10276
HPRD	06769
IPI	IPI00020071 IPI00218375 IPI00908598 IPI00470378 IPI00922641 IPI00014923 IPI00791851
	Protein Interaction databases
DIP (DOE-UCLA)	P10276
IntAct (EBI)	P10276
FunCoup	ENSG00000131759
BioGRID	RARA
STRING (EMBL)	RARA
ZODIAC	RARA
	Ontologies - Pathways
QuickGO	P10276
Ontology : AmiGO	negative 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-EBI	negative 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 : KEGG	Pathways in cancer Transcriptional misregulation in cancer Acute myeloid leukemia
REACTOME	P10276 [protein]
REACTOME Pathways	R-HSA-5617472 [pathway]
NDEx Network	RARA
Atlas of Cancer Signalling Network	RARA
Wikipedia pathways	RARA
	Orthology - Evolution
OrthoDB	5914
GeneTree (enSembl)	ENSG00000131759
Phylogenetic Trees/Animal Genes : TreeFam	RARA
HOGENOM	P10276
Homologs : HomoloGene	RARA
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 : Mitelman	BCOR/RARA [Xp11.4/17q21.2] [t(X;17)(p11;q21)]
Fusion : Mitelman	FIP1L1/RARA [4q12/17q21.2] [t(4;17)(q12;q21)]
Fusion : Mitelman	GTF2I/RARA [7q11.23/17q21.2] [t(7;17)(q11;q21)]
Fusion : Mitelman	NABP1/RARA [2q32.3/17q21.2] [t(2;17)(q32;q21)]
Fusion : Mitelman	NPM1/RARA [5q35.1/17q21.2] [t(11;17)(q23;q21)] [t(15;17)(q22;q21)]
	[t(5;17)(q35;q21)]
Fusion : Mitelman	NUMA1/RARA [11q13.4/17q21.2] [t(11;17)(q13;q21)]
Fusion : Mitelman	PML/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 : Mitelman	PRKAR1A/RARA [17q24.2/17q21.2] [t(17;17)(q21;q24)]
Fusion : Mitelman	RARA/CA10 [17q21.2/17q21.33] [t(17;17)(q21;q22)]
Fusion : Mitelman	RARA/CDC6 [17q21.2/17q21.2] [t(17;17)(q21;q21)]
Fusion : Mitelman	RARA/CDK12 [17q21.2/17q12] [t(17;17)(q12;q21)]
Fusion : Mitelman	RARA/COL10A1 [17q21.2/6q22.1] [t(6;17)(q22;q21)]
Fusion : Mitelman	RARA/HOXB3 [17q21.2/17q21.32] [t(17;17)(q21;q21)]
Fusion : Mitelman	RARA/MSL1 [17q21.2/17q21.1] [t(17;17)(q21;q21)]
Fusion : Mitelman	RARA/MYO1D [17q21.2/17q11.2] [t(17;17)(q11;q21)]
Fusion : Mitelman	RARA/NARS2 [17q21.2/11q14.1] [t(11;17)(q14;q21)]
Fusion : Mitelman	RARA/PCTP [17q21.2/17q22] [t(17;17)(q21;q22)]
Fusion : Mitelman	RARA/PGAP3 [17q21.2/17q12] [t(17;17)(q12;q21)]
Fusion : Mitelman	RARA/PKIA [17q21.2/8q21.12] [t(8;17)(q21;q21)]
Fusion : Mitelman	RARA/PML [17q21.2/15q24.1] [t(15;17)(q22;q21)]
Fusion : Mitelman	RARA/POLDIP2 [17q21.2/17q11.2] [t(17;17)(q11;q21)]
Fusion : Mitelman	RARA/PRR11 [17q21.2/17q22] [t(17;17)(q21;q22)]
Fusion : Mitelman	RARA/PSMD3 [17q21.2/17q21.1] [t(17;17)(q21;q21)]
Fusion : Mitelman	RARA/SKAP1 [17q21.2/17q21.32] [t(17;17)(q21;q21)]
Fusion : Mitelman	RARA/STAC2 [17q21.2/17q12] [t(17;17)(q12;q21)]
Fusion : Mitelman	RARA/STAT3 [17q21.2/17q21.2] [t(17;17)(q21;q21)]
Fusion : Mitelman	RARA/WIPF2 [17q21.2/17q21.1] [t(17;17)(q21;q21)]
Fusion : Mitelman	RARA/ZNF595 [17q21.2/4p16.3] [t(4;17)(p16;q21)]
Fusion : Mitelman	STAT5B/RARA [17q21.2/17q21.2] [t(17;17)(q21;q21)]
Fusion : Mitelman	TAOK1/RARA [17q11.2/17q21.2] [t(17;17)(q11;q21)]
Fusion : Mitelman	TBL1XR1/RARA [3q26.32/17q21.2] [t(3;17)(q26;q21)]
Fusion : Mitelman	TPCN2/RARA [11q13.3/17q21.2] [t(11;17)(q13;q21)]
Fusion : Mitelman	ZBTB16/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 : COSMIC	PML [15q24.1] - RARA [17q21.2] [fusion_2299] [fusion_2300] [fusion_2301] [fusion_2302] [fusion_2304] [fusion_2305] [fusion_2307]
	[fusion_2310] [fusion_2312] [fusion_2313] [fusion_2316] [fusion_2317] [fusion_2318] [fusion_2320] [fusion_2322]
Fusion Portal	PML 15q24.1 RARA 17q21.2 LAML
Fusion Portal	RARA 17q21.2 CA10 17q21.33 BRCA
Fusion Portal	RARA 17q21.2 CDC6 17q21.2 LUAD
Fusion Portal	RARA 17q21.2 CDK12 17q12 BRCA
Fusion Portal	RARA 17q21.2 COL10A1 6q22.1 BRCA
Fusion Portal	RARA 17q21.2 HOXB3 17q21.32 BRCA
Fusion Portal	RARA 17q21.2 MSL1 17q21.1 BRCA
Fusion Portal	RARA 17q21.2 MYO1D 17q11.2 BRCA
Fusion Portal	RARA 17q21.2 PCTP 17q22 BRCA
Fusion Portal	RARA 17q21.2 PGAP3 17q12 BRCA
Fusion Portal	RARA 17q21.2 PML 15q24.1 LAML
Fusion Portal	RARA 17q21.2 PRR11 17q22 BRCA
Fusion Portal	RARA 17q21.2 PSMD3 17q21.1 BRCA
Fusion Portal	RARA 17q21.2 RP11-1407O15.2 BRCA
Fusion Portal	RARA 17q21.2 SKAP1 17q21.32 BRCA
Fusion Portal	RARA 17q21.2 STAC2 17q12 LUAD
Fusion Portal	RARA 17q21.2 STAT3 17q21.2 BRCA
Fusion Portal	RARA 17q21.2 WIPF2 17q21.1 BRCA
Fusion Portal	RARA 17q21.2 ZNF595 4p16.3 BRCA
Fusion Portal	TAOK1 17q11.2 RARA 17q21.2 GBM
Fusion Portal	TPCN2 11q13.3 RARA 17q21.2 BRCA
Fusion : TICdb	BCOR [Xp11.4] - RARA [17q21.2]
Fusion : TICdb	FIP1L1 [4q12] - RARA [17q21.2]
Fusion : TICdb	NABP1 [2q32.3] - RARA [17q21.2]
Fusion : TICdb	NPM1 [5q35.1] - RARA [17q21.2]
Fusion : TICdb	NUMA1 [11q13.4] - RARA [17q21.2]
Fusion : TICdb	PML [15q24.1] - RARA [17q21.2]
Fusion : TICdb	PRKAR1A [17q24.2] - RARA [17q21.2]
Fusion : TICdb	STAT5B [17q21.2] - RARA [17q21.2]
Fusion : TICdb	ZBTB16 [11q23.2] - RARA [17q21.2]
Fusion : FusionGDB	15771 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_Hub	ACACA--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 : Quiver	RARA
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	RARA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	RARA
dbVar	RARA
ClinVar	RARA
1000_Genomes	RARA
Exome Variant Server	RARA
ExAC (Exome Aggregation Consortium)	ENSG00000131759
GNOMAD Browser	ENSG00000131759
Varsome Browser	RARA
Genetic variants : HAPMAP	5914
Genomic Variants (DGV)	RARA [DGVbeta]
DECIPHER	RARA [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	RARA
	Mutations
ICGC Data Portal	RARA
TCGA Data Portal	RARA
Broad Tumor Portal	RARA
OASIS Portal	RARA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	RARA [overview] [genome browser] [tissue] [distribution]
Somatic Mutations in Cancer : COSMIC3D	RARA
Mutations and Diseases : HGMD	RARA
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
BioMuta	search 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)
intoGen	RARA
NCG5 (London)	RARA
Cancer3D	RARA(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	180240 612376
Orphanet	8559
DisGeNET	RARA
Medgen	RARA
Genetic Testing Registry	RARA
NextProt	P10276 [Medical]
TSGene	5914
GENETests	RARA
Target Validation	RARA
Huge Navigator	RARA [HugePedia]
snp3D : Map Gene to Disease	5914
BioCentury BCIQ	RARA
ClinGen	RARA
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	5914
Chemical/Pharm GKB Gene	PA34225
Clinical trial	RARA
	Miscellaneous
canSAR (ICR)	RARA (select the gene name)
DataMed Index	RARA
	Probes
	Litterature
PubMed	414 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	RARA
EVEX	RARA
GoPubMed	RARA
iHOP	RARA

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Wed Nov 13 21:54:24 CET 2019

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