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AFDN (afadin, adherens junction formation factor )

Written1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesMLLT4
myeloid/lymphoid or mixed-lineage leukemia
Alias_symbol (synonym)AF-6
AF6
Other aliasMLLT4 (myeloid/lymphoid or mixed-lineage leukemia; translocated to, 4)
AF6 (ALL1 fused gene from chromosome 6)
HGNC (Hugo) AFDN
LocusID (NCBI) 4301
Atlas_Id 6
Location 6q27  [Link to chromosome band 6q27]
Location_base_pair Starts at 167826991 and ends at 167965113 bp from pter ( according to hg19-Feb_2009)  [Mapping AFDN.png]
 
  AF6 (6q27) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AFDN (6q27) / AFDN (6q27)AFDN (6q27) / EXOC6B (2p13.2)AFDN (6q27) / KCNAB1 (3q25.31)
AFDN (6q27) / KMT2A (11q23.3)AFDN (6q27) / SASH1 (6q24.3)AFDN (6q27) / TMEM151B (6p21.1)
AFDN (6q27) / UNC93A (6q27)BCL6 (3q27.3) / AFDN (6q27)KMT2A (11q23.3) / AFDN (6q27)
MBTPS2 (Xp22.12) / AFDN (6q27)PLA2G2A (1p36.13) / AFDN (6q27)SASH1 (6q24.3) / AFDN (6q27)

DNA/RNA

Transcription 8 kb mRNA; coding sequence: 4.8 kb

Protein

Description 1612 amino acids; contains a GLGF motif, which may have a role in membrane/cytoskeleton relations
Expression widely expressed
Localisation cytoplasmic
Function may be involved in molecular transport system; signal transduction
Homology cno (drosophila)

Implicated in

Note
  
Entity t(6;11)(q27;q23)/AML --> (CC: TXT: KMT2A ID: 13> - AFDN
Disease M4/M5 AML mainly
Prognosis poor
Cytogenetics may be overlooked; +8 is a frequent additional chromosome anomaly
Hybrid/Mutated Gene 5' MLL- 3' AF6
Abnormal Protein NH2-term MLL (with the AT hook and DNA binding motifs) and most of AF6
  

Bibliography

Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
Bernard OA, Berger R
Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
PMID 7542910
 
Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation.
Prasad R, Gu Y, Alder H, Nakamura T, Canaani O, Saito H, Huebner K, Gale RP, Nowell PC, Kuriyama K
Cancer research. 1993 ; 53 (23) : 5624-5628.
PMID 8242616
 
11q23 rearrangements in acute leukemia.
Rubnitz JE, Behm FG, Downing JR
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1996 ; 10 (1) : 74-82.
PMID 8558942
 
Chromosome abnormalities in leukaemia: the 11q23 paradigm.
Young BD, Saha V
Cancer surveys. 1996 ; 28 : 225-245.
PMID 8977038
 

Citation

This paper should be referenced as such :
Huret, JL
MLLT4 (myeloid/lymphoid or mixed-lineage leukemia (trithorax); translocated to, 4)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):56-57.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AF6ID6.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ]
  11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias
t(5;14)(q35;q11) TRD/NKX2-5
t(6;11)(q27;q23) KMT2A/AFDN
t(11;16)(q23;p13.3) KMT2A/CREBBP


External links

Nomenclature
HGNC (Hugo)AFDN   7137
Cards
AtlasAF6ID6
Entrez_Gene (NCBI)AFDN  4301  afadin, adherens junction formation factor
AliasesAF6; MLL-AF6; MLLT4; l-afadin
GeneCards (Weizmann)AFDN
Ensembl hg19 (Hinxton)ENSG00000130396 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130396 [Gene_View]  chr6:167826991-167965113 [Contig_View]  AFDN [Vega]
ICGC DataPortalENSG00000130396
TCGA cBioPortalAFDN
AceView (NCBI)AFDN
Genatlas (Paris)AFDN
WikiGenes4301
SOURCE (Princeton)AFDN
Genetics Home Reference (NIH)AFDN
Genomic and cartography
GoldenPath hg38 (UCSC)AFDN  -     chr6:167826991-167965113 +  6q27   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AFDN  -     6q27   [Description]    (hg19-Feb_2009)
EnsemblAFDN - 6q27 [CytoView hg19]  AFDN - 6q27 [CytoView hg38]
Mapping of homologs : NCBIAFDN [Mapview hg19]  AFDN [Mapview hg38]
OMIM159559   
Gene and transcription
Genbank (Entrez)AB209420 AB621809 AF085836 AI271860 AK055689
RefSeq transcript (Entrez)NM_001040000 NM_001040001 NM_001207008 NM_001291964 NM_005936
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AFDN
Cluster EST : UnigeneHs.741785 [ NCBI ]
CGAP (NCI)Hs.741785
Alternative Splicing GalleryENSG00000130396
Gene ExpressionAFDN [ NCBI-GEO ]   AFDN [ EBI - ARRAY_EXPRESS ]   AFDN [ SEEK ]   AFDN [ MEM ]
Gene Expression Viewer (FireBrowse)AFDN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4301
GTEX Portal (Tissue expression)AFDN
Human Protein AtlasENSG00000130396-AFDN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55196   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55196  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55196
Splice isoforms : SwissVarP55196
PhosPhoSitePlusP55196
Domaine pattern : Prosite (Expaxy)DILUTE (PS51126)    PDZ (PS50106)    RA (PS50200)   
Domains : Interpro (EBI)Afadin    Dilute_dom    FHA_dom    PDZ    RA_dom    SMAD_FHA_domain    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)DIL (PF01843)    FHA (PF00498)    PDZ (PF00595)    RA (PF00788)   
Domain families : Pfam (NCBI)pfam01843    pfam00498    pfam00595    pfam00788   
Domain families : Smart (EMBL)DIL (SM01132)  FHA (SM00240)  PDZ (SM00228)  RA (SM00314)  
Conserved Domain (NCBI)AFDN
DMDM Disease mutations4301
Blocks (Seattle)AFDN
PDB (SRS)1T2M    1XZ9    2AIN    2EXG    5A6C   
PDB (PDBSum)1T2M    1XZ9    2AIN    2EXG    5A6C   
PDB (IMB)1T2M    1XZ9    2AIN    2EXG    5A6C   
PDB (RSDB)1T2M    1XZ9    2AIN    2EXG    5A6C   
Structural Biology KnowledgeBase1T2M    1XZ9    2AIN    2EXG    5A6C   
SCOP (Structural Classification of Proteins)1T2M    1XZ9    2AIN    2EXG    5A6C   
CATH (Classification of proteins structures)1T2M    1XZ9    2AIN    2EXG    5A6C   
SuperfamilyP55196
Human Protein Atlas [tissue]ENSG00000130396-AFDN [tissue]
Peptide AtlasP55196
HPRD01164
IPIIPI00398718   IPI00216505   IPI00023461   IPI00759546   IPI01014668   IPI00953593   IPI00479469   IPI00965424   IPI00640210   IPI00643785   IPI00829971   IPI00966597   IPI00966568   IPI00967991   IPI00966289   IPI00967110   
Protein Interaction databases
DIP (DOE-UCLA)P55196
IntAct (EBI)P55196
FunCoupENSG00000130396
BioGRIDAFDN
STRING (EMBL)AFDN
ZODIACAFDN
Ontologies - Pathways
QuickGOP55196
Ontology : AmiGOprotein binding  nucleoplasm  cytosol  cytosol  plasma membrane  cell-cell junction  adherens junction  cell adhesion  signal transduction  cell-cell signaling  protein C-terminus binding  nuclear speck  Ras GTPase binding  cell junction  regulation of protein localization  adherens junction organization  adherens junction organization  positive regulation of GTPase activity  cadherin binding  establishment of endothelial intestinal barrier  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytosol  cytosol  plasma membrane  cell-cell junction  adherens junction  cell adhesion  signal transduction  cell-cell signaling  protein C-terminus binding  nuclear speck  Ras GTPase binding  cell junction  regulation of protein localization  adherens junction organization  adherens junction organization  positive regulation of GTPase activity  cadherin binding  establishment of endothelial intestinal barrier  
NDEx NetworkAFDN
Atlas of Cancer Signalling NetworkAFDN
Wikipedia pathwaysAFDN
Orthology - Evolution
OrthoDB4301
GeneTree (enSembl)ENSG00000130396
Phylogenetic Trees/Animal Genes : TreeFamAFDN
HOVERGENP55196
HOGENOMP55196
Homologs : HomoloGeneAFDN
Homology/Alignments : Family Browser (UCSC)AFDN
Gene fusions - Rearrangements
Fusion : MitelmanMLLT4/EXOC6B [6q27/2p13.2]  
Fusion : MitelmanMLLT4/KCNAB1 [6q27/3q25.31]  [t(3;6)(q25;q27)]  
Fusion : MitelmanMLLT4/SASH1 [6q27/6q24.3]  [t(6;6)(q24;q27)]  
Fusion : MitelmanSASH1/MLLT4 [6q24.3/6q27]  [t(6;6)(q24;q27)]  
Fusion: TCGA_MDACCMLLT4 6q27 EXOC6B 2p13.2 PRAD
Fusion: TCGA_MDACCMLLT4 6q27 KCNAB1 3q25.31 BRCA
Fusion: TCGA_MDACCMLLT4 6q27 MLL LAML
Fusion: TCGA_MDACCMLLT4 6q27 SASH1 6q24.3 LGG
Fusion: TCGA_MDACCMLLT4 6q27 UNC93A 6q27 OV
Fusion: TCGA_MDACCMLL MLLT4 6q27 LAML
Fusion: TCGA_MDACCSASH1 6q24.3 MLLT4 6q27 LGG
Tumor Fusion PortalAFDN
Fusion : TICdbKMT2A [11q23.3]  -  MLLT4 [6q27]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAFDN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AFDN
dbVarAFDN
ClinVarAFDN
1000_GenomesAFDN 
Exome Variant ServerAFDN
ExAC (Exome Aggregation Consortium)ENSG00000130396
GNOMAD BrowserENSG00000130396
Genetic variants : HAPMAP4301
Genomic Variants (DGV)AFDN [DGVbeta]
DECIPHERAFDN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAFDN 
Mutations
ICGC Data PortalAFDN 
TCGA Data PortalAFDN 
Broad Tumor PortalAFDN
OASIS PortalAFDN [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDAFDN
intOGen PortalMLLT4
BioMutasearch AFDN
DgiDB (Drug Gene Interaction Database)AFDN
DoCM (Curated mutations)AFDN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AFDN (select a term)
intoGenAFDN
NCG5 (London)AFDN
Cancer3DAFDN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM159559   
Orphanet
DisGeNETAFDN
MedgenAFDN
Genetic Testing Registry AFDN
NextProtP55196 [Medical]
TSGene4301
GENETestsAFDN
Target ValidationAFDN
Huge Navigator AFDN [HugePedia]
snp3D : Map Gene to Disease4301
BioCentury BCIQAFDN
ClinGenAFDN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4301
Chemical/Pharm GKB GenePA30853
Clinical trialAFDN
Miscellaneous
canSAR (ICR)AFDN (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAFDN
EVEXAFDN
GoPubMedAFDN
iHOPAFDN
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:43:29 CET 2017

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.