Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MLLT6 (myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6)

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)


Alias_namesmyeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6
Alias_symbol (synonym)AF17
Other aliasAF17 (ALL1 fused gene from chromosome 17)
LocusID (NCBI) 4302
Atlas_Id 7
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 38705620 and ends at 38729803 bp from pter ( according to hg19-Feb_2009)  [Mapping MLLT6.png]
Local_order proximal to RARA, also in 17q21; HLF is even more distal in 17q22
  Probe(s) - 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)
C19orf70 (19p13.3) / MLLT6 (17q12)CACNB1 (17q12) / MLLT6 (17q12)KMT2A (11q23.3) / MLLT6 (17q12)
MLLT6 (17q12) / AATF (17q12)MLLT6 (17q12) / ACE (17q23.3)MLLT6 (17q12) / KIRREL3 (11q24.2)
MLLT6 (17q12) / KMT2A (11q23.3)MLLT6 (17q12) / PLEKHH1 (14q24.1)MLLT6 (17q12) / PPP1R12A (12q21.2)
MLLT6 (17q12) / RRNAD1 (1q23.1)MLLT6 (17q12) / TUBB (6p21.33)MRPL35 (2p11.2) / MLLT6 (17q12)
USF1 (1q23.3) / MLLT6 (17q12)


Transcription 7.5 and 5 kb mRNA; coding sequence: 3.3 kb


Description 1093 amino acids; N- term - 3 Zn fingers (LAP type) and a leucine zipper - C-term; a leucine zipper is a dimerization motif
Localisation nuclear
Function transcriptional regulation factor
Homology with AF10 and BR140, a gene sitting in 3p25

Implicated in

Entity t(11;17)(q23;q21) /AML --> KMT2A -AF17
Disease AML and MDS
Cytogenetics additional anomaly: +8
Hybrid/Mutated Gene 5' MLL - 3' AF17
Abnormal Protein N-term AT hook and DNA methyltransferase from MLL fused to the leucine zipper C-term of AF17


Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
Bernard OA, Berger R
Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
PMID 7542910
Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia.
Prasad R, Leshkowitz D, Gu Y, Alder H, Nakamura T, Saito H, Huebner K, Berger R, Croce CM, Canaani E
Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (17) : 8107-8111.
PMID 8058765
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


This paper should be referenced as such :
Huret, JL
AF17 (ALL1 fused gene from chromosome 17)
Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):53-53.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(11;17)(q23;q12-21) KMT2A/MLLT6
t(11;17)(q23;q12) KMT2A/MLLT6
t(11;17)(q23;q12) MLLT6/KMT2A

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(11;17)(q24;q12) MLLT6/KIRREL3
t(12;17)(q21;q12) MLLT6/PPP1R12A
t(17;17)(q12;q23) MLLT6/ACE

External links

HGNC (Hugo)MLLT6   7138
Entrez_Gene (NCBI)MLLT6  4302  MLLT6, PHD finger containing
GeneCards (Weizmann)MLLT6
Ensembl hg19 (Hinxton)ENSG00000275023 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000275023 [Gene_View]  ENSG00000275023 [Sequence]  chr17:38705620-38729803 [Contig_View]  MLLT6 [Vega]
ICGC DataPortalENSG00000275023
TCGA cBioPortalMLLT6
Genatlas (Paris)MLLT6
SOURCE (Princeton)MLLT6
Genetics Home Reference (NIH)MLLT6
Genomic and cartography
GoldenPath hg38 (UCSC)MLLT6  -     chr17:38705620-38729803 +  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MLLT6  -     17q12   [Description]    (hg19-Feb_2009)
MLLT6 - 17q12 [CytoView hg19]  MLLT6 - 17q12 [CytoView hg38]
Mapping of homologs : NCBIMLLT6 [Mapview hg19]  MLLT6 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB209633 AF075118 AK027133 AK057058 AK092893
RefSeq transcript (Entrez)NM_005937
RefSeq genomic (Entrez)NC_000017 NT_187614
Consensus coding sequences : CCDS (NCBI)MLLT6
Cluster EST : UnigeneHs.91531 [ NCBI ]
CGAP (NCI)Hs.91531
Alternative Splicing GalleryENSG00000275023
Gene ExpressionMLLT6 [ NCBI-GEO ]   MLLT6 [ EBI - ARRAY_EXPRESS ]   MLLT6 [ SEEK ]   MLLT6 [ MEM ]
Gene Expression Viewer (FireBrowse)MLLT6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4302
GTEX Portal (Tissue expression)MLLT6
Human Protein AtlasENSG00000275023-MLLT6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55198   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55198  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55198
Splice isoforms : SwissVarP55198
Domaine pattern : Prosite (Expaxy)EPHD (PS51805)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)EPHD    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)PHD (SM00249)  
Conserved Domain (NCBI)MLLT6
DMDM Disease mutations4302
Blocks (Seattle)MLLT6
Human Protein Atlas [tissue]ENSG00000275023-MLLT6 [tissue]
Peptide AtlasP55198
IPIIPI00023466   IPI00744066   IPI00556612   
Protein Interaction databases
IntAct (EBI)P55198
Ontologies - Pathways
Ontology : AmiGOprotein binding  nucleus  regulation of transcription, DNA-templated  positive regulation of sodium ion transport  nucleosome binding  negative regulation of urine volume  renal sodium excretion  renal potassium excretion  histone binding  positive regulation of transcription by RNA polymerase II  metal ion binding  negative regulation of histone H3-K79 methylation  
Ontology : EGO-EBIprotein binding  nucleus  regulation of transcription, DNA-templated  positive regulation of sodium ion transport  nucleosome binding  negative regulation of urine volume  renal sodium excretion  renal potassium excretion  histone binding  positive regulation of transcription by RNA polymerase II  metal ion binding  negative regulation of histone H3-K79 methylation  
NDEx NetworkMLLT6
Atlas of Cancer Signalling NetworkMLLT6
Wikipedia pathwaysMLLT6
Orthology - Evolution
GeneTree (enSembl)ENSG00000275023
Phylogenetic Trees/Animal Genes : TreeFamMLLT6
Homologs : HomoloGeneMLLT6
Homology/Alignments : Family Browser (UCSC)MLLT6
Gene fusions - Rearrangements
Fusion : MitelmanMLLT6/ACE [17q12/17q23.3]  
Fusion : MitelmanMLLT6/KIRREL3 [17q12/11q24.2]  [t(11;17)(q24;q12)]  
Fusion : MitelmanMLLT6/PPP1R12A [17q12/12q21.2]  [t(12;17)(q21;q12)]  
Fusion : COSMICKMT2A [11q23.3]  -  MLLT6 [17q12]  [fusion_1882]  [fusion_1883]  [fusion_1941]  [fusion_1942]  
Fusion PortalCACNB1 17q12 MLLT6 17q12 BRCA
Fusion PortalMLLT6 17q12 AATF 17q12 KIRC
Fusion PortalMLLT6 17q12 ACE 17q23.3 BRCA
Fusion PortalMLLT6 17q12 KIRREL3 11q24.2 BRCA
Fusion PortalMLLT6 17q12 PPP1R12A 12q21.2 LGG
Fusion : TICdbKMT2A [11q23.3]  -  MLLT6 [17q12]
Fusion : FusionGDB19104    22181    22182    22183    22184    22185    22186    22187    22188    22189    22190    22492    23675    27263    40935   
Fusion : QuiverMLLT6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLLT6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLLT6
Exome Variant ServerMLLT6
ExAC (Exome Aggregation Consortium)ENSG00000275023
GNOMAD BrowserENSG00000275023
Varsome BrowserMLLT6
Genetic variants : HAPMAP4302
Genomic Variants (DGV)MLLT6 [DGVbeta]
DECIPHERMLLT6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMLLT6 
ICGC Data PortalMLLT6 
TCGA Data PortalMLLT6 
Broad Tumor PortalMLLT6
OASIS PortalMLLT6 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDMLLT6
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 MLLT6
DgiDB (Drug Gene Interaction Database)MLLT6
DoCM (Curated mutations)MLLT6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MLLT6 (select a term)
NCG5 (London)MLLT6
Cancer3DMLLT6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry MLLT6
NextProtP55198 [Medical]
Target ValidationMLLT6
Huge Navigator MLLT6 [HugePedia]
snp3D : Map Gene to Disease4302
BioCentury BCIQMLLT6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4302
Chemical/Pharm GKB GenePA30854
Clinical trialMLLT6
canSAR (ICR)MLLT6 (select the gene name)
DataMed IndexMLLT6
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
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 Mar 21 16:17:56 CET 2019

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