FRYL (FRY-like)

2005-10-01   Sandrine Hayette  

Laboratoire dHématologie et de Cytogénétique, Hôpital Ed Herriot, INSERM U590, Lyon, France

Identity

HGNC
FRYL
LOCATION
4p11
LOCUSID
285527
ALIAS
AF4p12,KIAA0826,MOR2
FUSION GENES
Show Gene Fusions

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
t(4;11)(p12;q23) / Treatment-related acute lymphoblastic leukemia (t-ALL) --> KMT2A - FRYL
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
Atlas Image
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
Atlas Image
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 In the predicted chimeric MLL/AF4p12 fusion protein, the MLL zinc finger and the MLL SET domains have been replaced by the AF4p12 leucine zipper domain.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 IDLast YearTitleAuthors
160616302005AF4p12, 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

Gene IDTranscript IDUniprot
ENSG00000075539ENST00000358350O94915
ENSG00000075539ENST00000503238O94915
ENSG00000075539ENST00000505759D6R9B9
ENSG00000075539ENST00000507711F2Z2S2
ENSG00000075539ENST00000507873A0A2C9F2R7
ENSG00000075539ENST00000514617H0Y9X0
ENSG00000075539ENST00000641795A0A286YEZ9

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384793912024De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.0
384793912024De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.0
299833732018Structural Basis for Auto-Inhibition of the NDR1 Kinase Domain by an Atypically Long Activation Segment.12
299833732018Structural Basis for Auto-Inhibition of the NDR1 Kinase Domain by an Atypically Long Activation Segment.12
178546712007Translocation (4;11)(p12;q23) with rearrangement of FRYL and MLL in therapy-related acute myeloid leukemia.4
178546712007Translocation (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/gene-fusions-explorer/