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
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 40309171 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.

Fusion genes (updated 2016)	- () / 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 --> MLL-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) [ 26 ]

11q23 rearrangements (KMT2A) in leukaemia
Classification of acute myeloid leukemias
del(18)(p11)
del(4)(q12q12) FIP1L1/PDGFRA
M3/M3v acute myeloid leukemia (AML M3/M3v)
::Acute promyelocytic leukemia (APL)
::Acute promyelocytic leukemia (APL) PML/RARA
t(1;17)(p34;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(5;11)(q33;q13) NUMA1/PDGFRB a novel fusion
t(5;17)(q35;q21) without RARA involvement in non-M3 AML
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(11;17)(q23;q12-21) KMT2A/MMLT6
t(11;17)(q23;q12-21) KMT2A/LASP1
t(12;12)(p13;q13) ETV6/BAZ2A
t(12;13)(p13;q14) LIN00598/ETV6
t(15;17)(q24;q21) PML/RARA
t(15;17)(q22;q21) in treatment related leukemia
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(17;20)(q21;q11)
t(5;17)(q35;q21) NPM1/RARA

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] chr17:40309171-40357643 [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 - chr17:40309171-40357643 + 17q21.2 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	RARA - 17q21.2 [Description] (hg19-Feb_2009)
Ensembl	RARA - 17q21.2 [CytoView hg19] RARA - 17q21.2 [CytoView hg38]
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]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	5914
GTEX Portal (Tissue expression)	RARA
	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)	NUCLEAR_REC_DBD_1 (PS00031) NUCLEAR_REC_DBD_2 (PS51030)
Domains : Interpro (EBI)	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 (SRS)	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
PDB (RSDB)	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	ENSG00000131759
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 from RNA polymerase II promoter nuclear chromatin translation repressor activity, nucleic acid binding RNA polymerase II regulatory region sequence-specific DNA binding ureteric bud development neural tube closure liver development retinoic acid binding glandular epithelial cell development outflow tract septum morphogenesis growth plate cartilage development transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity retinoic acid receptor activity transcription coactivator activity transcription coactivator activity transcription corepressor activity receptor binding protein binding nucleus nucleoplasm cytoplasm cytosol transcription initiation from RNA polymerase II promoter protein phosphorylation signal transduction germ cell development spermatogenesis female pregnancy transcription factor binding drug binding zinc ion binding positive regulation of cell proliferation negative regulation of cell proliferation cell surface actin cytoskeleton enzyme binding protein domain specific binding hippocampus development 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 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 cytokine multicellular organism growth histone deacetylase binding neuronal cell body 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 from RNA polymerase II promoter positive regulation of transcription from RNA polymerase II promoter negative regulation of translational initiation protein heterodimerization activity mRNA 5'-UTR binding regulation of synaptic plasticity retinoic acid receptor signaling pathway perinuclear region of cytoplasm protein kinase A binding positive regulation of binding alpha-actinin binding ventricular cardiac muscle cell differentiation Sertoli cell fate commitment limb development face development trachea cartilage development chondroblast differentiation negative regulation of cartilage development cellular response to lipopolysaccharide cellular response to retinoic acid cellular response to estrogen stimulus
Ontology : EGO-EBI	negative regulation of transcription from RNA polymerase II promoter nuclear chromatin translation repressor activity, nucleic acid binding RNA polymerase II regulatory region sequence-specific DNA binding ureteric bud development neural tube closure liver development retinoic acid binding glandular epithelial cell development outflow tract septum morphogenesis growth plate cartilage development transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity retinoic acid receptor activity transcription coactivator activity transcription coactivator activity transcription corepressor activity receptor binding protein binding nucleus nucleoplasm cytoplasm cytosol transcription initiation from RNA polymerase II promoter protein phosphorylation signal transduction germ cell development spermatogenesis female pregnancy transcription factor binding drug binding zinc ion binding positive regulation of cell proliferation negative regulation of cell proliferation cell surface actin cytoskeleton enzyme binding protein domain specific binding hippocampus development 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 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 cytokine multicellular organism growth histone deacetylase binding neuronal cell body 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 from RNA polymerase II promoter positive regulation of transcription from RNA polymerase II promoter negative regulation of translational initiation protein heterodimerization activity mRNA 5'-UTR binding regulation of synaptic plasticity retinoic acid receptor signaling pathway perinuclear region of cytoplasm protein kinase A binding positive regulation of binding alpha-actinin binding ventricular cardiac muscle cell differentiation Sertoli cell fate commitment limb development face development trachea cartilage development chondroblast differentiation negative regulation of cartilage development cellular response to lipopolysaccharide cellular response to retinoic acid cellular response to estrogen stimulus
Pathways : BIOCARTA	[Genes]
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
HOVERGEN	P10276
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_2311] [fusion_2312] [fusion_2313] [fusion_2316] [fusion_2317] [fusion_2318] [fusion_2320] [fusion_2322]
Fusion: TCGA	PML 15q24.1 RARA 17q21.2 LAML
Fusion: TCGA	RARA 17q21.2 CA10 17q21.33 BRCA
Fusion: TCGA	RARA 17q21.2 CDC6 17q21.2 LUAD
Fusion: TCGA	RARA 17q21.2 CDK12 17q12 BRCA
Fusion: TCGA	RARA 17q21.2 COL10A1 6q22.1 BRCA
Fusion: TCGA	RARA 17q21.2 HOXB3 17q21.32 BRCA
Fusion: TCGA	RARA 17q21.2 MSL1 17q21.1 BRCA
Fusion: TCGA	RARA 17q21.2 MYO1D 17q11.2 BRCA
Fusion: TCGA	RARA 17q21.2 PCTP 17q22 BRCA
Fusion: TCGA	RARA 17q21.2 PGAP3 17q12 BRCA
Fusion: TCGA	RARA 17q21.2 PML 15q24.1 LAML
Fusion: TCGA	RARA 17q21.2 PRR11 17q22 BRCA
Fusion: TCGA	RARA 17q21.2 PSMD3 17q21.1 BRCA
Fusion: TCGA	RARA 17q21.2 RP11-1407O15.2 BRCA
Fusion: TCGA	RARA 17q21.2 SKAP1 17q21.32 BRCA
Fusion: TCGA	RARA 17q21.2 STAC2 17q12 LUAD
Fusion: TCGA	RARA 17q21.2 STAT3 17q21.2 BRCA
Fusion: TCGA	RARA 17q21.2 WIPF2 17q21.1 BRCA
Fusion: TCGA	RARA 17q21.2 ZNF595 4p16.3 BRCA
Fusion: TCGA	TAOK1 17q11.2 RARA 17q21.2 GBM
Fusion: TCGA	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]
	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)	RARA (select the gene name)
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]
Cancer Gene: Census	RARA
Somatic Mutations in Cancer : COSMIC	RARA [overview] [genome browser] [tissue] [distribution]
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	180240 612376
Orphanet	8559
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)
	Probes
	Litterature
PubMed	378 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 : Mon Sep 18 17:12:55 CEST 2017

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