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FRYL (FRY-like)

Written2005-10Sandrine Hayette
Laboratoire d'Hématologie et de Cytogénétique, Hôpital Ed Herriot, INSERM U590, Lyon, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesKIAA0826
KIAA0826
furry homolog-like (Drosophila)
FRY like
Alias_symbol (synonym)DKFZp686E205
AF4p12
MOR2
Other alias
HGNC (Hugo) FRYL
LocusID (NCBI) 285527
Atlas_Id 42970
Location 4p11  [Link to chromosome band 4p11]
Location_base_pair Starts at 48497363 and ends at 48780299 bp from pter ( according to hg19-Feb_2009)  [Mapping FRYL.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CNDP2 (18q22.3) / FRYL (4p11)FRYL (4p11) / DTD1 (20p11.23)FRYL (4p11) / KMT2A (11q23.3)
FRYL (4p11) / LCORL (4p15.31)FRYL (4p11) / OCIAD2 (4p11)FRYL (4p11) / PRR4 (12p13.2)
FRYL (4p11) / PRRX1 (1q24.2)FRYL (4p11) / RPL11 (1p36.11)FRYL (4p11) / ZNF606 (19q13.43)
KMT2A (11q23.3) / FRYL (4p11)PRR4 (12p13.2) / FRYL (4p11)RACK1 (5q35.3) / FRYL (4p11)
RBPJ (4p15.2) / FRYL (4p11)
Note AF4p12 must be considered as a human ortholog of Drosophila Furry gene

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

Protein

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

Note
  
Entity 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/Mutated 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.
Abnormal 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

AF4p12, a human homologue to the furry gene of Drosophila, as a novel MLL fusion partner.
Hayette S, Cornillet-Lefebvre P, Tigaud I, Struski S, Forissier S, Berchet A, Doll D, Gillot L, Brahim W, Delabesse E, Magaud JP, Rimokh R
Cancer research. 2005 ; 65 (15) : 6521-6525.
PMID 16061630
 

Citation

This paper should be referenced as such :
Hayette, S
AF4p12 (ALL1 fused gene from chromosome 4p12)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(2):68-69.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AF4q12ID42970ch4p12.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(4;11)(p12;q23) KMT2A/FRYL


External links

Nomenclature
HGNC (Hugo)FRYL   29127
Cards
AtlasAF4q12ID42970ch4p12
Entrez_Gene (NCBI)FRYL  285527  FRY like transcription coactivator
AliasesAF4p12; KIAA0826; MOR2
GeneCards (Weizmann)FRYL
Ensembl hg19 (Hinxton)ENSG00000075539 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000075539 [Gene_View]  chr4:48497363-48780299 [Contig_View]  FRYL [Vega]
ICGC DataPortalENSG00000075539
TCGA cBioPortalFRYL
AceView (NCBI)FRYL
Genatlas (Paris)FRYL
WikiGenes285527
SOURCE (Princeton)FRYL
Genetics Home Reference (NIH)FRYL
Genomic and cartography
GoldenPath hg38 (UCSC)FRYL  -     chr4:48497363-48780299 -  4p11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRYL  -     4p11   [Description]    (hg19-Feb_2009)
EnsemblFRYL - 4p11 [CytoView hg19]  FRYL - 4p11 [CytoView hg38]
Mapping of homologs : NCBIFRYL [Mapview hg19]  FRYL [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB020633 AK025034 AK127307 AK128452 AK131250
RefSeq transcript (Entrez)NM_001039751 NM_015030
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)FRYL
Cluster EST : UnigeneHs.595553 [ NCBI ]
CGAP (NCI)Hs.595553
Alternative Splicing GalleryENSG00000075539
Gene ExpressionFRYL [ NCBI-GEO ]   FRYL [ EBI - ARRAY_EXPRESS ]   FRYL [ SEEK ]   FRYL [ MEM ]
Gene Expression Viewer (FireBrowse)FRYL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)285527
GTEX Portal (Tissue expression)FRYL
Human Protein AtlasENSG00000075539-FRYL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94915   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94915  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94915
Splice isoforms : SwissVarO94915
PhosPhoSitePlusO94915
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Cell_morpho_N    Cell_Morphogen_C    MOR2-PAG1_mid   
Domain families : Pfam (Sanger)MOR2-PAG1_C (PF14225)    MOR2-PAG1_mid (PF14228)    MOR2-PAG1_N (PF14222)   
Domain families : Pfam (NCBI)pfam14225    pfam14228    pfam14222   
Conserved Domain (NCBI)FRYL
DMDM Disease mutations285527
Blocks (Seattle)FRYL
SuperfamilyO94915
Human Protein Atlas [tissue]ENSG00000075539-FRYL [tissue]
Peptide AtlasO94915
IPIIPI00739940   IPI00159652   IPI00965359   IPI00418604   IPI00966142   IPI00966392   IPI00965854   
Protein Interaction databases
DIP (DOE-UCLA)O94915
IntAct (EBI)O94915
FunCoupENSG00000075539
BioGRIDFRYL
STRING (EMBL)FRYL
ZODIACFRYL
Ontologies - Pathways
QuickGOO94915
Ontology : AmiGOcell morphogenesis  cell cortex  transcription, DNA-templated  regulation of transcription, DNA-templated  site of polarized growth  neuron projection development  actin filament reorganization  
Ontology : EGO-EBIcell morphogenesis  cell cortex  transcription, DNA-templated  regulation of transcription, DNA-templated  site of polarized growth  neuron projection development  actin filament reorganization  
NDEx NetworkFRYL
Atlas of Cancer Signalling NetworkFRYL
Wikipedia pathwaysFRYL
Orthology - Evolution
OrthoDB285527
GeneTree (enSembl)ENSG00000075539
Phylogenetic Trees/Animal Genes : TreeFamFRYL
HOVERGENO94915
HOGENOMO94915
Homologs : HomoloGeneFRYL
Homology/Alignments : Family Browser (UCSC)FRYL
Gene fusions - Rearrangements
Fusion : MitelmanFRYL/DTD1 [4p11/20p11.23]  
Fusion : MitelmanFRYL/LCORL [4p11/4p15.31]  [t(4;4)(p12;p15)]  
Fusion : MitelmanFRYL/ZNF606 [4p11/19q13.43]  [t(4;19)(p12;q13)]  
Fusion : COSMICFRYL [4p11]  -  KMT2A [11q23.3]  [fusion_1969]  
Fusion : COSMICKMT2A [11q23.3]  -  FRYL [4p11]  [fusion_1968]  
Fusion: TCGAFRYL 4p11 DTD1 20p11.23 BRCA
Fusion: TCGAFRYL 4p11 LCORL 4p15.31 LUSC
Fusion: TCGAFRYL 4p11 OCIAD2 4p11 LUAD PRAD
Fusion: TCGAFRYL 4p11 ZNF606 19q13.43 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRYL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRYL
dbVarFRYL
ClinVarFRYL
1000_GenomesFRYL 
Exome Variant ServerFRYL
ExAC (Exome Aggregation Consortium)ENSG00000075539
GNOMAD BrowserENSG00000075539
Genetic variants : HAPMAP285527
Genomic Variants (DGV)FRYL [DGVbeta]
DECIPHERFRYL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisFRYL 
Mutations
ICGC Data PortalFRYL 
TCGA Data PortalFRYL 
Broad Tumor PortalFRYL
OASIS PortalFRYL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFRYL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFRYL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch FRYL
DgiDB (Drug Gene Interaction Database)FRYL
DoCM (Curated mutations)FRYL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FRYL (select a term)
intoGenFRYL
NCG5 (London)FRYL
Cancer3DFRYL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenFRYL
Genetic Testing Registry FRYL
NextProtO94915 [Medical]
TSGene285527
GENETestsFRYL
Target ValidationFRYL
Huge Navigator FRYL [HugePedia]
snp3D : Map Gene to Disease285527
BioCentury BCIQFRYL
ClinGenFRYL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD285527
Chemical/Pharm GKB GenePA134967984
Clinical trialFRYL
Miscellaneous
canSAR (ICR)FRYL (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFRYL
EVEXFRYL
GoPubMedFRYL
iHOPFRYL
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Oct 12 16:15:33 CEST 2017

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