Written | 1998-04 | Olivier Bernard |
Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France |
Identity |
Alias (NCBI) | AF6q21 (ALL1 fused gene from chromosome 6q21) | FKHRL1 (forkhead homolog rhabdomyosarcoma like 1) |
HGNC (Hugo) | FOXO3 |
HGNC Alias symb | AF6q21 | FOXO2 |
HGNC Previous name | FKHRL1 | FOXO3A |
LocusID (NCBI) | 2309 |
Atlas_Id | 125 |
Location | 6q21 [Link to chromosome band 6q21] |
Location_base_pair | Starts at 108559825 and ends at 108684774 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping FOXO3.png] |
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Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
Fusion genes (updated 2017) | Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands) |
FOXO3 (6q21) / CHD7 (8q12.2) | FOXO3 (6q21) / FOXN3 (14q31.3) | FOXO3 (6q21) / KMT2A (11q23.3) | |
FOXO3 (6q21) / SEPT1 (16p11.2) | GSN (9q33.2) / FOXO3 (6q21) | KMT2A (11q23.3) / FOXO3 (6q21) | |
NEMF (14q21.3) / FOXO3 (6q21) | PPM1G (2p23.3) / FOXO3 (6q21) | TAT (16q22.2) / FOXO3 (6q21) | |
DNA/RNA |
Transcription | 6 kb transcript with a 3.2 kb mRNA complete cds; coding sequence: CDS 925..2946 |
Protein |
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Description | 673 amino acids; NH2 -- similarity region with AFX and FKHR -- Forkhead motif -- COOH |
Expression | wide |
Localisation | nuclear (potential) |
Function | may be a transcription regulator |
Homology | AFX, involved in the t(X;11)(q13;q23), and FHKR, involved in rabdomyosarcoma; with also a similar breakpoint location within the forkhead motif |
Implicated in |
Note | |
Entity | t(6;11)(q21;q23)/AML --> KMT2A - FOXO3 |
Disease | treatment related AML, M5 type |
Hybrid/Mutated Gene | 5' MLL - 3' AF6q2 |
Abnormal Protein | 240 kDa protein with about 1400 amino acids from N-term MLL fused to 446 amino acids from AF6q21 C-term; the reciprocal may be expressed |
Bibliography |
Cloning and characterization of three human forkhead genes that comprise an FKHR-like gene subfamily. |
Anderson MJ, Viars CS, Czekay S, Cavenee WK, Arden KC |
Genomics. 1998 ; 47 (2) : 187-199. |
PMID 9479491 |
AF6q21, a novel partner of the MLL gene in t(6;11)(q21;q23), defines a forkhead transcriptional factor subfamily. |
Hillion J, Le Coniat M, Jonveaux P, Berger R, Bernard OA |
Blood. 1997 ; 90 (9) : 3714-3719. |
PMID 9345057 |
Citation |
This paper should be referenced as such : |
Bernard, O |
FOXO3A (forkhead box O3A) |
Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):73-73. |
Free journal version : [ pdf ] [ DOI ] |
Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ] |
11q23 rearrangements (KMT2A) in leukaemia
Aggressive natural killer leukemia (ANKL) del(6q) Extranodal NK/T-cell lymphoma, nasal type (ENKL) i(6)(p10) t(6;11)(q21;q23) KMT2A/FOXO3 |
Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ] |
t(6;8)(q21;q12) FOXO3/CHD7
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External links |
REVIEW articles | automatic search in PubMed |
Last year publications | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Feb 19 17:45:14 CET 2021 |
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