FRYL (FRY-like)

2005-10-01 Sandrine Hayette Affiliation

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

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 In the predicted chimeric MLL/AF4p12 fusion protein, the MLL zinc finger and the MLL SET domains have been replaced by the AF4p12 leucine zipper domain.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.

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

Gene ID	Transcript ID	Uniprot
ENSG00000075539	ENST00000358350	O94915
ENSG00000075539	ENST00000503238	O94915
ENSG00000075539	ENST00000505759	D6R9B9
ENSG00000075539	ENST00000507711	F2Z2S2
ENSG00000075539	ENST00000507873	A0A2C9F2R7
ENSG00000075539	ENST00000514617	H0Y9X0
ENSG00000075539	ENST00000641795	A0A286YEZ9

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
29983373	2018	Structural Basis for Auto-Inhibition of the NDR1 Kinase Domain by an Atypically Long Activation Segment.	6
17854671	2007	Translocation (4;11)(p12;q23) with rearrangement of FRYL and MLL in therapy-related acute myeloid leukemia.	3

Citation

Sandrine Hayette

FRYL (FRY-like)

Atlas Genet Cytogenet Oncol Haematol. 2005-10-01

Online version: http://atlasgeneticsoncology.org/gene/42970/fryl