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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 (NCBI)AF4p12
DKFZp686E205
KIAA0826
HGNC (Hugo) FRYL
HGNC Alias symbDKFZp686E205
AF4p12
MOR2
HGNC Alias namemor2 cell polarity protein homolog (S. pombe)
HGNC Previous nameKIAA0826
HGNC Previous nameKIAA0826
 furry homolog-like (Drosophila)
 FRY like
LocusID (NCBI) 285527
Atlas_Id 42970
Location 4p11  [Link to chromosome band 4p11]
Location_base_pair Starts at 48497357 and ends at 48780279 bp from pter ( according to GRCh38/hg38-Dec_2013)  [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 / 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 ]


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    FRY like transcription coactivator
AliasesAF4p12; KIAA0826; MOR2
GeneCards (Weizmann)FRYL
Ensembl hg19 (Hinxton)ENSG00000075539 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000075539 [Gene_View]  ENSG00000075539 [Sequence]  chr4:48497357-48780279 [Contig_View]  FRYL [Vega]
ICGC DataPortalENSG00000075539
TCGA cBioPortalFRYL
AceView (NCBI)FRYL
Genatlas (Paris)FRYL
SOURCE (Princeton)FRYL
Genetics Home Reference (NIH)FRYL
Genomic and cartography
GoldenPath hg38 (UCSC)FRYL  -     chr4:48497357-48780279 -  4p11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)FRYL  -     4p11   [Description]    (hg19-Feb_2009)
GoldenPathFRYL - 4p11 [CytoView hg19]  FRYL - 4p11 [CytoView hg38]
ImmunoBaseENSG00000075539
Genome Data Viewer NCBIFRYL [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AB020633 AK025034 AK127307 AK128452 AK131250
RefSeq transcript (Entrez)NM_001039751 NM_015030
Consensus coding sequences : CCDS (NCBI)FRYL
Gene ExpressionFRYL [ NCBI-GEO ]   FRYL [ EBI - ARRAY_EXPRESS ]   FRYL [ SEEK ]   FRYL [ MEM ]
Gene Expression Viewer (FireBrowse)FRYL [ Firebrowse - Broad ]
GenevisibleExpression of FRYL 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
PhosPhoSitePlusO94915
Domains : Interpro (EBI)ARM-type_fold    Cell_morpho_N    Cell_Morphogen_C    Furry/Tao3/Mor2    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
SuperfamilyO94915
AlphaFold pdb e-kbO94915   
Human Protein Atlas [tissue]ENSG00000075539-FRYL [tissue]
Protein Interaction databases
DIP (DOE-UCLA)O94915
IntAct (EBI)O94915
BioGRIDFRYL
STRING (EMBL)FRYL
ZODIACFRYL
Ontologies - Pathways
QuickGOO94915
Ontology : AmiGOcell morphogenesis  protein binding  cell cortex  site of polarized growth  neuron projection development  
Ontology : EGO-EBIcell morphogenesis  protein binding  cell cortex  site of polarized growth  neuron projection development  
NDEx NetworkFRYL
Atlas of Cancer Signalling NetworkFRYL
Wikipedia pathwaysFRYL
Orthology - Evolution
OrthoDB285527
GeneTree (enSembl)ENSG00000075539
Phylogenetic Trees/Animal Genes : TreeFamFRYL
Homologs : HomoloGeneFRYL
Homology/Alignments : Family Browser (UCSC)FRYL
Gene fusions - Rearrangements
Fusion : MitelmanFRYL::DTD1 [4p11/20p11.23]  
Fusion : MitelmanFRYL::LCORL [4p11/4p15.31]  
Fusion : MitelmanFRYL::ZNF606 [4p11/19q13.43]  
Fusion : COSMICKMT2A [11q23.3]  -  FRYL [4p11]  [fusion_1968]  
Fusion : QuiverFRYL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFRYL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FRYL
dbVarFRYL
ClinVarFRYL
MonarchFRYL
1000_GenomesFRYL 
Exome Variant ServerFRYL
GNOMAD BrowserENSG00000075539
Varsome BrowserFRYL
ACMGFRYL variants
VarityO94915
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]  
Somatic Mutations in Cancer : COSMIC3DFRYL
Mutations and Diseases : HGMDFRYL
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaFRYL
DgiDB (Drug Gene Interaction Database)FRYL
DoCM (Curated mutations)FRYL
CIViC (Clinical Interpretations of Variants in Cancer)FRYL
NCG (London)FRYL
Cancer3DFRYL
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETFRYL
MedgenFRYL
Genetic Testing Registry FRYL
NextProtO94915 [Medical]
GENETestsFRYL
Target ValidationFRYL
Huge Navigator FRYL [HugePedia]
ClinGenFRYL
Clinical trials, drugs, therapy
MyCancerGenomeFRYL
Protein Interactions : CTDFRYL
Pharm GKB GenePA134967984
PharosO94915
Clinical trialFRYL
Miscellaneous
canSAR (ICR)FRYL
HarmonizomeFRYL
DataMed IndexFRYL
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXFRYL
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:12:02 CEST 2021

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