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FGA7 (Fused Gene 7 to AML1)

Written2004-06Fady M Mikhail, Giuseppina Nucifora
23 Francis street, Apt 18, Boulkely, Alexandria, Egypt

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Alias (NCBI)FGA7
HGNC (Hugo) -
LocusID (NCBI) -
Atlas_Id 525
Location 4q28  [Link to chromosome band 4q28]
  Metaphase FISH analysis using the BAC probe RP11-104M2 labeled with FITC (green) hybridized to a normal metaphase cell confirms the chromosomal localization of the probe (gene) to 4q28.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)


Description The gene has not been fully cloned at the present time. A 476-base novel sequence fused to AML1 has been identified and sequenced as a result of the molecular cloning of the t(4;21)(q28;q22). The novel sequence maps to chromosome band 4q28. Sequence analysis did not show any significant homology with any of the known genes in the human GenBank DNA database. However the first 118-bases are identical to a part of human ovarian EST-11116119. Also, the first 196-bases of the sequence show 87% homology with a mouse sequence, whereas the first 237-bases show 85% homology with a rat sequence. Based on the high degree of identity among the three species, it is very likely that the novel sequence represents a part of a novel gene, which was named FGA7.

FGA7 sequence is contained within three human genomic BAC clones: RP11-104M2, RP11-153C5, and RP11-595L6.

t(4;21)(q28;q22) generates two fusion transcripts due to alternative splicing of AML1. Transcript I contains AML1 exon 5 fused to FGA7, whereas transcript II contains AML1 exon 6 fused to FGA7.


Description AML1-FGA7 fusion encodes two variant chimeric proteins, both of which consist of the N-terminus of AML1 including the RUNT domain, but differ in the inclusion of AML1 exon 6. Both predicted proteins contain an identical C-terminus derived from FGA7 that adds 27 amino acids after the AML1 breakpoint.
Expression FGA7 is not expressed in normal hematopoietic tissue. It is expressed in skeletal muscle and ovarian tissues with a transcript size of about 11kb.
Homology FGA7 shows high homology to mouse and rat sequences.

Implicated in

Entity t(4;21)(q28;q22) leading to RUNX1-FGA7 gene fusion
Disease Pediatric T-cell ALL.
Prognosis Poor.
Cytogenetics Associated with del(7)(q22).
Schematic representation of AML1 and AML1-FGA7 fusion transcripts. Top, diagram of AML1 shows the RUNT domain (RD) and the transactivation domain (TA) separated by exon 6. Center, the fusion of AML1 exon 6 to FGA7 results in the addition of 27 codons. The asterisks indicate the stop codon. Bottom, the alternative splice form that does not include exon 6 is shown.
Metaphase FISH analysis using the BAC probe RP11-104M2 hybridized to the patient's metaphase shows one normal green signal on the intact chromosome 4 (dashed arrow) and two smaller green signals on der(21) (arrowhead) and on der(4) (arrow) as a result of the t(4;21)(q28;q22).
Oncogenesis The predicted AML1-FGA7 chimeric proteins contain a limited number of amino acid residues fused to AML1 in a situation similar to that reported for AML1-EAP fusion that is a product of t(3;21). It is possible that the expression of a constitutively shortened AML1 could compete with full-length AML1 and act as a dominant negative inhibitor of the promoters that the core binding factor (CBF) activates.


A novel gene, FGA7, is fused to RUNX1/AML1 in a t(4;21)(q28;q22) in a patient with T-cell acute lymphoblastic leukemia.
Mikhail FM, Coignet L, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Farahat N, Nucifora G
Genes, chromosomes & cancer. 2004 ; 39 (2) : 110-118.
PMID 14695990


This paper should be referenced as such :
Mikhail, FM ; Nucifora, G
FGA7 (fused gene 7 to AML1)
Atlas Genet Cytogenet Oncol Haematol. 2004;8(3):212-213.
Free journal version : [ pdf ]   [ DOI ]

External links

HGNC (Hugo)-   -
Entrez_Gene (NCBI)FGA7    -
GeneCards (Weizmann)FGA7
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]   [Sequence]  - [Contig_View]  FGA7 [Vega]
TCGA cBioPortalFGA7
AceView (NCBI)FGA7
Genatlas (Paris)FGA7
SOURCE (Princeton)FGA7
Genetics Home Reference (NIH)FGA7
Genomic and cartography
GoldenPath hg38 (UCSC)FGA7  -  
GoldenPath hg19 (UCSC)FGA7  -  
GoldenPathFGA7 - [CytoView hg19]  FGA7 - [CytoView hg38]
genome Data Viewer NCBIFGA7 [Mapview hg19]  
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FGA7
Gene ExpressionFGA7 [ NCBI-GEO ]   FGA7 [ EBI - ARRAY_EXPRESS ]   FGA7 [ SEEK ]   FGA7 [ MEM ]
Gene Expression Viewer (FireBrowse)FGA7 [ Firebrowse - Broad ]
GenevisibleExpression of FGA7 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)-
GTEX Portal (Tissue expression)FGA7
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)FGA7
Blocks (Seattle)FGA7
Protein Interaction databases
Ontologies - Pathways
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 19 17:50:45 CET 2021

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