FRYL (FRY-like)
2005-10-01 Sandrine Hayette AffiliationLaboratoire dHématologie et de Cytogénétique, Hôpital Ed Herriot, INSERM U590, Lyon, France
Identity
HGNC
LOCATION
4p11
LOCUSID
ALIAS
AF4p12,KIAA0826,MOR2
FUSION GENES
DNA/RNA
Description
The genomic size of the gene is about 185 kb and contains at least 61 exons
Transcription
mRNA size are about 11,42 kb with a large open reading frame of 9,318 kb. mRNA are expressed in a wide spectrum of normal tissues. The highest steady-state levels are in colon, placenta and brain.
Pseudogene
No known pseudogene
Proteins
Description
The protein size is 3105 amino acids. It contains two potential leucine zipper domains (aa 1229-1250 and 2923-2944)
Expression
see above the mRNA expression, protein expression has not been studied
Localisation
not determined
Function
not determined but displays transcriptional activation potential
Homology
AF4p12 shows about 60% identity to the human protein CAB42442. Two paralogs are found in human, rat and chicken, and one ortholog is found in Drosophila, C elegans, and Arabidopsis.
Implicated in
Entity name
Disease
B-ALL
Prognosis
Only one patient described, but she died one month after ALL diagnosis
Cytogenetics
translocation t(4;11)(p12;q23)
Hybrid gene
MLL-AF4p12
The t(4;11) translocation breakpoint between exon 6 from the MLL gene and exon 49 from AF4p12. Black bars, chromosome 11 DNA regions; grey bars, chromosome 4 DNA regions. MLL exons are indicated by black boxes, AF4p12 exons are indicated by grey boxes.
Fusion protein
MLL-AF4
Schematic representation of the domain structures of MLL and of the MLL/AF4p12 fusion protein. MT, DNA methyltransferase homology domain; SET, SET domain; LZ, Leucine Zipper domain. Arrows show the fusion point. Numbers refer to the positions of amino acids in wild-type MLL or AF4p12. In the predicted chimeric MLL/AF4p12 fusion protein, the MLL zinc finger and the MLL SET domains have been replaced by the AF4p12 leucine zipper domain.
Oncogenesis
The fusion domain of AF4p12 to the chimeric protein MLL-AF4p12 displays transcriptional activation potential and the gain of transcriptional effector properties could contribute to the transformation of lymphoid progenitor by the fusion protein.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16061630 | 2005 | AF4p12, a human homologue to the furry gene of Drosophila, as a novel MLL fusion partner. | Hayette S et al |
Other Information
Locus ID:
NCBI: 285527
HGNC: 29127
Ensembl: ENSG00000075539
Variants:
dbSNP: 285527
ClinVar: 285527
TCGA: ENSG00000075539
COSMIC: FRYL
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38479391 | 2024 | De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. | 0 |
| 38479391 | 2024 | De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features. | 0 |
| 29983373 | 2018 | Structural Basis for Auto-Inhibition of the NDR1 Kinase Domain by an Atypically Long Activation Segment. | 12 |
| 29983373 | 2018 | Structural Basis for Auto-Inhibition of the NDR1 Kinase Domain by an Atypically Long Activation Segment. | 12 |
| 17854671 | 2007 | Translocation (4;11)(p12;q23) with rearrangement of FRYL and MLL in therapy-related acute myeloid leukemia. | 4 |
| 17854671 | 2007 | Translocation (4;11)(p12;q23) with rearrangement of FRYL and MLL in therapy-related acute myeloid leukemia. | 4 |
Citation
Sandrine Hayette
FRYL (FRY-like)
Atlas Genet Cytogenet Oncol Haematol. 2005-10-01
Online version: http://atlasgeneticsoncology.org/gene/42970/fryl-(fry-like)
