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MLLT11 (ALL1 fused gene from chromosome 1q)

Written1998-04Olivier Bernard
Unite Inserm U434, CNRS, Institut de Genetique Moleculaire, Paris, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog
Alias_symbol (synonym)AF1Q
Other aliasAF1q (ALL1 fused gene from chromosome 1q)
HGNC (Hugo) MLLT11
LocusID (NCBI) 10962
Atlas_Id 12
Location 1q21.3  [Link to chromosome band 1q21]
Location_base_pair Starts at 151059675 and ends at 151068497 bp from pter ( according to hg19-Feb_2009)  [Mapping MLLT11.png]
 
  AF1q (1q21) - 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)
GABPB2 (1q21.3) / MLLT11 (1q21.3)KMT2A (11q23.3) / MLLT11 (1q21.3)MLLT11 (1q21.3) / ENC1 (5q13.3)
MLLT11 (1q21.3) / KMT2A (11q23.3)PIP5K1A (1q21.3) / MLLT11 (1q21.3)SHMT1 (17p11.2) / MLLT11 (1q21.3)

DNA/RNA

Transcription 1.8 kb mRNA; coding sequence CDS 401... 673

Protein

Description 90 amino acids; 9 kDa
Expression detected in various tissues (small intestine, colon, thymus mainly), but not in (normal) mature blood cells; expressed in all leukemic cell lines tested
Function unknown
Homology no known homology

Implicated in

Note
  
Entity t(1;11) (q21;q23)/AML --> KMT2A - MLLT11
Disease AML
Prognosis yet unknown
Hybrid/Mutated Gene breakpoints: between exons 6 and 7 in MLL and within the 5' untranslated region in AF1q
Abnormal Protein N-term -- AT hook and DNA methyltransferase from MLL fused to the entire AF1q on the der(11); the reciprocal on der(1) is out of frame
  

Bibliography

Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
Bernard OA, Berger R
Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
PMID 7542910
 
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
 
A novel gene, AF1q, fused to MLL in t(1;11) (q21;q23), is specifically expressed in leukemic and immature hematopoietic cells.
Tse W, Zhu W, Chen HS, Cohen A
Blood. 1995 ; 85 (3) : 650-656.
PMID 7833468
 
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 :
Bernard, O
AF1q (ALL1 fused gene from chromosome 1q)
Atlas Genet Cytogenet Oncol Haematol. 1998;2(3):72-72.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AF1qID12.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(1;1)(p36;q21) in Non Hodgkin Lymphoma
der(11)t(1;11)(q11-23;q14-25)
t(1;11)(q21;q23) KMT2A/MLLT11


External links

Nomenclature
HGNC (Hugo)MLLT11   16997
Cards
AtlasAF1qID12
Entrez_Gene (NCBI)MLLT11  10962  myeloid/lymphoid or mixed-lineage leukemia; translocated to, 11
AliasesAF1Q
GeneCards (Weizmann)MLLT11
Ensembl hg19 (Hinxton)ENSG00000213190 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000213190 [Gene_View]  chr1:151059675-151068497 [Contig_View]  MLLT11 [Vega]
ICGC DataPortalENSG00000213190
TCGA cBioPortalMLLT11
AceView (NCBI)MLLT11
Genatlas (Paris)MLLT11
WikiGenes10962
SOURCE (Princeton)MLLT11
Genetics Home Reference (NIH)MLLT11
Genomic and cartography
GoldenPath hg38 (UCSC)MLLT11  -     chr1:151059675-151068497 +  1q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLLT11  -     1q21.3   [Description]    (hg19-Feb_2009)
EnsemblMLLT11 - 1q21.3 [CytoView hg19]  MLLT11 - 1q21.3 [CytoView hg38]
Mapping of homologs : NCBIMLLT11 [Mapview hg19]  MLLT11 [Mapview hg38]
OMIM604684   607785   
Gene and transcription
Genbank (Entrez)AK056089 AK057755 BC006471 BC007079 BC008445
RefSeq transcript (Entrez)NM_006818
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MLLT11
Cluster EST : UnigeneHs.75823 [ NCBI ]
CGAP (NCI)Hs.75823
Alternative Splicing GalleryENSG00000213190
Gene ExpressionMLLT11 [ NCBI-GEO ]   MLLT11 [ EBI - ARRAY_EXPRESS ]   MLLT11 [ SEEK ]   MLLT11 [ MEM ]
Gene Expression Viewer (FireBrowse)MLLT11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10962
GTEX Portal (Tissue expression)MLLT11
Human Protein AtlasENSG00000213190-MLLT11 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13015   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13015  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13015
Splice isoforms : SwissVarQ13015
PhosPhoSitePlusQ13015
Domains : Interpro (EBI)MLLT11_fam    WRNPLPNID   
Domain families : Pfam (Sanger)WRNPLPNID (PF15017)   
Domain families : Pfam (NCBI)pfam15017   
Conserved Domain (NCBI)MLLT11
DMDM Disease mutations10962
Blocks (Seattle)MLLT11
SuperfamilyQ13015
Human Protein Atlas [tissue]ENSG00000213190-MLLT11 [tissue]
Peptide AtlasQ13015
HPRD05251
IPIIPI00011421   
Protein Interaction databases
DIP (DOE-UCLA)Q13015
IntAct (EBI)Q13015
FunCoupENSG00000213190
BioGRIDMLLT11
STRING (EMBL)MLLT11
ZODIACMLLT11
Ontologies - Pathways
QuickGOQ13015
Ontology : AmiGOmolecular_function  intracellular  nucleoplasm  microtubule organizing center  cytosol  positive regulation of apoptotic process  positive regulation of transcription, DNA-templated  positive regulation of mitochondrial depolarization  positive regulation of release of cytochrome c from mitochondria  extrinsic apoptotic signaling pathway  intrinsic apoptotic signaling pathway  
Ontology : EGO-EBImolecular_function  intracellular  nucleoplasm  microtubule organizing center  cytosol  positive regulation of apoptotic process  positive regulation of transcription, DNA-templated  positive regulation of mitochondrial depolarization  positive regulation of release of cytochrome c from mitochondria  extrinsic apoptotic signaling pathway  intrinsic apoptotic signaling pathway  
NDEx NetworkMLLT11
Atlas of Cancer Signalling NetworkMLLT11
Wikipedia pathwaysMLLT11
Orthology - Evolution
OrthoDB10962
GeneTree (enSembl)ENSG00000213190
Phylogenetic Trees/Animal Genes : TreeFamMLLT11
HOVERGENQ13015
HOGENOMQ13015
Homologs : HomoloGeneMLLT11
Homology/Alignments : Family Browser (UCSC)MLLT11
Gene fusions - Rearrangements
Fusion : MitelmanGABPB2/MLLT11 [1q21.3/1q21.3]  [t(1;1)(q21;q21)]  
Fusion : MitelmanPIP5K1A/MLLT11 [1q21.3/1q21.3]  [t(1;1)(q21;q21)]  
Fusion : COSMICKMT2A [11q23.3]  -  MLLT11 [1q21.3]  [fusion_1965]  [fusion_1977]  [fusion_1979]  [fusion_1980]  [fusion_1981]  [fusion_1982]  
Fusion: TCGAGABPB2 1q21.3 MLLT11 1q21.3 OV
Fusion: TCGAPIP5K1A 1q21.3 MLLT11 1q21.3 BRCA
Fusion : TICdbKMT2A [11q23.3]  -  MLLT11 [1q21.3]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLLT11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLLT11
dbVarMLLT11
ClinVarMLLT11
1000_GenomesMLLT11 
Exome Variant ServerMLLT11
ExAC (Exome Aggregation Consortium)ENSG00000213190
GNOMAD BrowserENSG00000213190
Genetic variants : HAPMAP10962
Genomic Variants (DGV)MLLT11 [DGVbeta]
DECIPHERMLLT11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMLLT11 
Mutations
ICGC Data PortalMLLT11 
TCGA Data PortalMLLT11 
Broad Tumor PortalMLLT11
OASIS PortalMLLT11 [ Somatic mutations - Copy number]
Cancer Gene: CensusMLLT11 
Mutations and Diseases : HGMDMLLT11
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 MLLT11
DgiDB (Drug Gene Interaction Database)MLLT11
DoCM (Curated mutations)MLLT11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MLLT11 (select a term)
intoGenMLLT11
NCG5 (London)MLLT11
Cancer3DMLLT11(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604684    607785   
Orphanet
MedgenMLLT11
Genetic Testing Registry MLLT11
NextProtQ13015 [Medical]
TSGene10962
GENETestsMLLT11
Target ValidationMLLT11
Huge Navigator MLLT11 [HugePedia]
snp3D : Map Gene to Disease10962
BioCentury BCIQMLLT11
ClinGenMLLT11
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10962
Chemical/Pharm GKB GenePA142671347
Clinical trialMLLT11
Miscellaneous
canSAR (ICR)MLLT11 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMLLT11
EVEXMLLT11
GoPubMedMLLT11
iHOPMLLT11
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 16:15:30 CEST 2017

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