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)

Identity

Alias_namesmyeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6
myeloid/lymphoid or mixed-lineage leukemia; translocated to, 6
MLLT6, PHD finger domain containing
Alias_symbol (synonym)AF17
FLJ23480
Other aliasAF17 (ALL1 fused gene from chromosome 17)
HGNC (Hugo) MLLT6
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)

DNA/RNA

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

Protein

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

Note
  
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
  

Bibliography

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
 

Citation

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 : http://AtlasGeneticsOncology.org/Genes/AF17ID7.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(11;17)(q23;q12-21) KMT2A/MLLT6

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

Nomenclature
HGNC (Hugo)MLLT6   7138
Cards
AtlasAF17ID7
Entrez_Gene (NCBI)MLLT6  4302  MLLT6, PHD finger containing
AliasesAF17
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
AceView (NCBI)MLLT6
Genatlas (Paris)MLLT6
WikiGenes4302
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)
GoldenPathMLLT6 - 17q12 [CytoView hg19]  MLLT6 - 17q12 [CytoView hg38]
ImmunoBaseENSG00000275023
Mapping of homologs : NCBIMLLT6 [Mapview hg19]  MLLT6 [Mapview hg38]
OMIM600328   
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
PhosPhoSitePlusP55198
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
SuperfamilyP55198
Human Protein Atlas [tissue]ENSG00000275023-MLLT6 [tissue]
Peptide AtlasP55198
HPRD08978
IPIIPI00023466   IPI00744066   IPI00556612   
Protein Interaction databases
DIP (DOE-UCLA)P55198
IntAct (EBI)P55198
FunCoupENSG00000275023
BioGRIDMLLT6
STRING (EMBL)MLLT6
ZODIACMLLT6
Ontologies - Pathways
QuickGOP55198
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
OrthoDB4302
GeneTree (enSembl)ENSG00000275023
Phylogenetic Trees/Animal Genes : TreeFamMLLT6
HOGENOMP55198
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 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   
5231   
Fusion : Fusion_HubAC018630.6--MLLT6    ATP1A1--MLLT6    C19ORF70--MLLT6    CACNB1--MLLT6    CNOT1--MLLT6    DES--MLLT6    KMT2A--MLLT6    LYZ--MLLT6    MLL--MLLT6    MLLT6--AATF    MLLT6--ACE    MLLT6--CISD3    MLLT6--F11R    MLLT6--GFOD2    MLLT6--HEPHL1   
MLLT6--KIRREL3    MLLT6--LASP1    MLLT6--M6PR    MLLT6--MBP    MLLT6--MEGF6    MLLT6--MLL    MLLT6--MYH9    MLLT6--PIP4K2B    MLLT6--PLEKHH1    MLLT6--PPP1R12A    MLLT6--RPS2    MLLT6--RRNAD1    MLLT6--SEPT4    MLLT6--SMARCA2    MLLT6--SMR3B   
MLLT6--SNF8    MLLT6--SRRM2    MLLT6--TAB1    MLLT6--TEM7    MLLT6--TG    MLLT6--TUBB    MRPL35--MLLT6    NCOA3--MLLT6    PIP4K2B--MLLT6    USF1--MLLT6   
Fusion : QuiverMLLT6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMLLT6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MLLT6
dbVarMLLT6
ClinVarMLLT6
1000_GenomesMLLT6 
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 
Mutations
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)
intoGenMLLT6
NCG5 (London)MLLT6
Cancer3DMLLT6(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600328   
Orphanet
DisGeNETMLLT6
MedgenMLLT6
Genetic Testing Registry MLLT6
NextProtP55198 [Medical]
TSGene4302
GENETestsMLLT6
Target ValidationMLLT6
Huge Navigator MLLT6 [HugePedia]
snp3D : Map Gene to Disease4302
BioCentury BCIQMLLT6
ClinGenMLLT6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4302
Chemical/Pharm GKB GenePA30854
Clinical trialMLLT6
Miscellaneous
canSAR (ICR)MLLT6 (select the gene name)
DataMed IndexMLLT6
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMLLT6
EVEXMLLT6
GoPubMedMLLT6
iHOPMLLT6
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 : Wed Nov 13 20:58:59 CET 2019
Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

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jlhuret@AtlasGeneticsOncology.org.