Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

KMT2A (myeloid/lymphoid or mixed lineage leukemia)

Written1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2000-12Jay L Hess, Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2002-11Rolf Marschalek
Instituts für Pharmazeutische Biologie, JWG Universitaet Frankfurt/Main, Biozentrum, N230, 303, Marie Curie Str. 9, D-60439 Frankfurt/Main, Germany
Updated2005-10Jean-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_namesMLL
myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)
myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
lysine (K)-specific methyltransferase 2A
Alias_symbol (synonym)TRX1
HRX
ALL-1
HTRX1
CXXC7
MLL1A
Other aliasMLL (myeloid/lymphoid or mixed lineage leukemia)
ALL1, HRX, Htrx (human trithorax), TRX1
HGNC (Hugo) KMT2A
LocusID (NCBI) 4297
Atlas_Id 13
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 118436490 and ends at 118526824 bp from pter ( according to hg19-Feb_2009)  [Mapping KMT2A.png]
Local_order telomeric to PLZF, centromeric from RCK
 
  MLL partner genes - Rolf Marschalek Nov 2002.
 
  KMT2A (myeloid/lymphoid or mixed lineage leukemia) Hybridization with Vysis LSI MLL Dual Color, Break Apart Rearrangement Probe (Abbott Molecular, US), showing the MLL (KMT2A) gene on 11q23.3 (red-green or a fused yellow signal) - Courtesy Adriana Zamecnikova.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ABI1 (10p12.1) / KMT2A (11q23.3)ACER1 (19p13.3) / KMT2A (11q23.3)ACTN4 (19q13.2) / KMT2A (11q23.3)
AFDN (6q27) / KMT2A (11q23.3)AFF1 (4q21.3) / KMT2A (11q23.3)AFF3 (2q11.2) / KMT2A (11q23.3)
AFF4 (5q31.1) / KMT2A (11q23.3)ARHGAP18 (6q22.33) / KMT2A (11q23.3)ARHGAP26 (5q31.3) / KMT2A (11q23.3)
ARHGEF12 (11q23.3) / KMT2A (11q23.3)ATG16L2 (11q13.4) / KMT2A (11q23.3)BTBD18 (11q12.1) / KMT2A (11q23.3)
CBL (11q23.3) / KMT2A (11q23.3)CCDC94 (19p13.3) / KMT2A (11q23.3)CDK6 (7q21.2) / KMT2A (11q23.3)
CENPK (5q12.3) / KMT2A (11q23.3)CLP1 (11q12.1) / KMT2A (11q23.3)CREBBP (16p13.3) / KMT2A (11q23.3)
DAB2IP (9q33.2) / KMT2A (11q23.3)DOCK11 (Xq24) / KMT2A (11q23.3)DSCAML1 (11q23.3) / KMT2A (11q23.3)
ELF2 (4q31.1) / KMT2A (11q23.3)ELL (19p13.11) / KMT2A (11q23.3)EP300 (22q13.2) / KMT2A (11q23.3)
EPS15 (1p32.3) / KMT2A (11q23.3)FN1 (2q35) / KMT2A (11q23.3)FNBP1 (9q34.11) / KMT2A (11q23.3)
FOXO3 (6q21) / KMT2A (11q23.3)FOXO4 (Xq13.1) / KMT2A (11q23.3)FRYL (4p11) / KMT2A (11q23.3)
FXYD6 (11q23.3) / KMT2A (11q23.3)GAS7 (17p13.1) / KMT2A (11q23.3)GMPS (3q25.31) / KMT2A (11q23.3)
GPHN (14q23.3) / KMT2A (11q23.3)HOXD1 (2q31.1) / KMT2A (11q23.3)KMT2A (11q23.3) / ABI1 (10p12.1)
KMT2A (11q23.3) / ABI2 (2q33.2)KMT2A (11q23.3) / ACACA (17q12)KMT2A (11q23.3) / ACTN4 (19q13.2)
KMT2A (11q23.3) / AFDN (6q27)KMT2A (11q23.3) / AFF1 (4q21.3)KMT2A (11q23.3) / AFF3 (2q11.2)
KMT2A (11q23.3) / AFF4 (5q31.1)KMT2A (11q23.3) / AKAP13 (15q25.3)KMT2A (11q23.3) / ANKHD1-EIF4EBP3 (5q31.3)
KMT2A (11q23.3) / AP2A2 (11p15.5)KMT2A (11q23.3) / ARHGAP26 (5q31.3)KMT2A (11q23.3) / ARHGEF12 (11q23.3)
KMT2A (11q23.3) / ARHGEF17 (11q13.4)KMT2A (11q23.3) / ATAD2 (8q24.13)KMT2A (11q23.3) / ATP5L (11q23.3)
KMT2A (11q23.3) / BCL9L (11q23.3)KMT2A (11q23.3) / BTBD18 (11q12.1)KMT2A (11q23.3) / BUD13 (11q23.3)
KMT2A (11q23.3) / C2CD3 (11q13.4)KMT2A (11q23.3) / CASP8AP2 (6q15)KMT2A (11q23.3) / CBL (11q23.3)
KMT2A (11q23.3) / CCDC94 (19p13.3)KMT2A (11q23.3) / CCNJL (5q33.3)KMT2A (11q23.3) / CDC42SE2 (5q23.3)
KMT2A (11q23.3) / CDK6 (7q21.2)KMT2A (11q23.3) / CELSR3 (3p21.31)KMT2A (11q23.3) / CENPK (5q12.3)
KMT2A (11q23.3) / CEP164 (11q23.3)KMT2A (11q23.3) / CEP170B (14q32.33)KMT2A (11q23.3) / CIP2A (3q13.13)
KMT2A (11q23.3) / CLP1 (11q12.1)KMT2A (11q23.3) / CLTC (17q23.1)KMT2A (11q23.3) / CREBBP (16p13.3)
KMT2A (11q23.3) / CT45A2 (Xq26.3)KMT2A (11q23.3) / DAB2IP (9q33.2)KMT2A (11q23.3) / DCP1A (3p21.1)
KMT2A (11q23.3) / DCPS (11q24.2)KMT2A (11q23.3) / EAF1 (3p25.1)KMT2A (11q23.3) / EEFSEC (3q21.3)
KMT2A (11q23.3) / EFNA5 (5q21.3)KMT2A (11q23.3) / ELL (19p13.11)KMT2A (11q23.3) / EP300 (22q13.2)
KMT2A (11q23.3) / EPS15 (1p32.3)KMT2A (11q23.3) / FER1L5 (2q11.2)KMT2A (11q23.3) / FLNA (Xq28)
KMT2A (11q23.3) / FN1 (2q35)KMT2A (11q23.3) / FNBP1 (9q34.11)KMT2A (11q23.3) / FOXO3 (6q21)
KMT2A (11q23.3) / FOXO4 (Xq13.1)KMT2A (11q23.3) / FOXR1 (11q23.3)KMT2A (11q23.3) / FRYL (4p11)
KMT2A (11q23.3) / FYN (6q21)KMT2A (11q23.3) / GAS7 (17p13.1)KMT2A (11q23.3) / GMPS (3q25.31)
KMT2A (11q23.3) / GNA15 (19p13.3)KMT2A (11q23.3) / GPHN (14q23.3)KMT2A (11q23.3) / HABP4 (9q22.32)
KMT2A (11q23.3) / HOXA11-AS (7p15.2)KMT2A (11q23.3) / HOXD1 (2q31.1)KMT2A (11q23.3) / KMT2A (11q23.3)
KMT2A (11q23.3) / KNL1 (15q15.1)KMT2A (11q23.3) / KXD1 (19p13.11)KMT2A (11q23.3) / LAMC3 (9q34.12)
KMT2A (11q23.3) / LASP1 (17q12)KMT2A (11q23.3) / LOC100506730 (1p36.13)KMT2A (11q23.3) / LOC643339 (12q22)
KMT2A (11q23.3) / LPP (3q28)KMT2A (11q23.3) / LRRC57 (15q15.2)KMT2A (11q23.3) / MAML2 (11q21)
KMT2A (11q23.3) / MAP3K5 (6q23.3)KMT2A (11q23.3) / MAPRE1 (20q11.21)KMT2A (11q23.3) / MATR3 (5q31.2)
KMT2A (11q23.3) / ME2 (18q21.2)KMT2A (11q23.3) / MLLT1 (19p13.3)KMT2A (11q23.3) / MLLT10 (10p12.31)
KMT2A (11q23.3) / MLLT11 (1q21.3)KMT2A (11q23.3) / MLLT3 (9p21.3)KMT2A (11q23.3) / MLLT6 (17q12)
KMT2A (11q23.3) / MYH11 (16p13.11)KMT2A (11q23.3) / MYO1F (19p13.2)KMT2A (11q23.3) / NCKIPSD (3p21.31)
KMT2A (11q23.3) / NEBL (10p12.31)KMT2A (11q23.3) / NKAIN3 (8q12.3)KMT2A (11q23.3) / NKD1 (16q12.1)
KMT2A (11q23.3) / NRIP3 (11p15.4)KMT2A (11q23.3) / OPN1LW (Xq28)KMT2A (11q23.3) / PDGFRB (5q32)
KMT2A (11q23.3) / PDS5A (4p14)KMT2A (11q23.3) / PICALM (11q14.2)KMT2A (11q23.3) / PRPF19 (11q12.2)
KMT2A (11q23.3) / PRRC1 (5q23.2)KMT2A (11q23.3) / RARA (17q21.2)KMT2A (11q23.3) / RBMS2 (12q13.3)
KMT2A (11q23.3) / ROS1 (6q22.1)KMT2A (11q23.3) / RUNDC3B (7q21.12)KMT2A (11q23.3) / RUNX1T1 (8q21.3)
KMT2A (11q23.3) / SACM1L (3p21.31)KMT2A (11q23.3) / SARNP (12q13.2)KMT2A (11q23.3) / SEPT11 (4q21.1)
KMT2A (11q23.3) / SEPT2 (2q37.3)KMT2A (11q23.3) / SEPT5 (22q11.21)KMT2A (11q23.3) / SEPT5-GP1BB (22q11.21)
KMT2A (11q23.3) / SEPT6 (Xq24)KMT2A (11q23.3) / SEPT9 ()KMT2A (11q23.3) / SEPT9 (17q25.2)
KMT2A (11q23.3) / SEPT9 (17q25.3)KMT2A (11q23.3) / SH3GL1 (19p13.3)KMT2A (11q23.3) / SLC22A10 (11q12.3)
KMT2A (11q23.3) / SLC25A24 (1p13.3)KMT2A (11q23.3) / SMAP1 (6q13)KMT2A (11q23.3) / SORBS2 (4q35.1)
KMT2A (11q23.3) / SUGP2 (19p13.11)KMT2A (11q23.3) / SYTL3 (6q25.3)KMT2A (11q23.3) / TCF12 (15q21.3)
KMT2A (11q23.3) / TET1 (10q21.3)KMT2A (11q23.3) / TIRAP (11q24.2)KMT2A (11q23.3) / TMX2-CTNND1 (11q12.1)
KMT2A (11q23.3) / TNRC18 (7p22.1)KMT2A (11q23.3) / TOP3A (17p11.2)KMT2A (11q23.3) / UGT1A8 (2q37.1)
KMT2A (11q23.3) / USP2 (11q23.3)KMT2A (11q23.3) / USP46 (4q12)KMT2A (11q23.3) / VAV1 (19p13.3)
KMT2A (11q23.3) / ZC3H13 (13q14.13)KMT2A (11q23.3) / ZDHHC7 (16q24.1)KMT2A (11q23.3) / ZFYVE19 (15q15.1)
KNL1 (15q15.1) / KMT2A (11q23.3)KRAS (12p12.1) / KMT2A (11q23.3)LASP1 (17q12) / KMT2A (11q23.3)
LPP (3q28) / KMT2A (11q23.3)MAML2 (11q21) / KMT2A (11q23.3)MAPRE1 (20q11.21) / KMT2A (11q23.3)
MEF2C (5q14.3) / KMT2A (11q23.3)MLLT1 (19p13.3) / KMT2A (11q23.3)MLLT10 (10p12.31) / KMT2A (11q23.3)
MLLT11 (1q21.3) / KMT2A (11q23.3)MLLT3 (9p21.3) / KMT2A (11q23.3)MLLT6 (17q12) / KMT2A (11q23.3)
MYO18A (17q11.2) / KMT2A (11q23.3)NCKIPSD (3p21.31) / KMT2A (11q23.3)NFKB1 (4q24) / KMT2A (11q23.3)
NT5C2 (10q24.32) / KMT2A (11q23.3)NUP98 (11p15.4) / KMT2A (11q23.3)PBX1 (1q23.3) / KMT2A (11q23.3)
PICALM (11q14.2) / KMT2A (11q23.3)RABGAP1L (1q25.1) / KMT2A (11q23.3)RAD51B (14q24.1) / KMT2A (11q23.3)
RARA (17q21.2) / KMT2A (11q23.3)RNF214 (11q23.3) / KMT2A (11q23.3)RUNX1T1 (8q21.3) / KMT2A (11q23.3)
SARNP (12q13.2) / KMT2A (11q23.3)SEPT5 (22q11.21) / KMT2A (11q23.3)SEPT6 (Xq24) / KMT2A (11q23.3)
SEPT9 (17q25.2) / KMT2A (11q23.3)SH3GL1 (19p13.3) / KMT2A (11q23.3)TCF12 (15q21.3) / KMT2A (11q23.3)
TET1 (10q21.3) / KMT2A (11q23.3)TOP3A (17p11.2) / KMT2A (11q23.3)TRIM2 (4q31.3) / KMT2A (11q23.3)
YPEL4 (11q12.1) / KMT2A (11q23.3)ZHX1 (8q24.13) / KMT2A (11q23.3)

DNA/RNA

 
  MLL (11q23) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Description 37 exons, spanning over 100 kb
Transcription in a centromeric to telomeric direction; 13 and 15 kb; coding sequence: 11.9 kb

Protein

 
Description 3969 amino acids; 431 KDa; contains from N-term to C-term 3 AT hooks homologous to high mobility group proteins HMGA1 and HMGA2, binding to the minor grove of DNA; 2 speckled nuclear localisation signals; 2 repression domains RD1 and RD2: RD1 or CXXC: cystein methyl transferase, binds CpG rich DNA, has a transcriptional repression activity; RD2 recruits histone desacetylases HDAC1 and 2; 3 plant homeodomains (cystein rich zinc finger domains, with homodimerization properties), 1 bromodomain (may bind acetylated histones), and 1 plant homeodomain; these domains may be involved in protein-protein interaction; a FYRN and a FRYC domain; a transactivation domain which binds CBP ; may acetylates H3 and H4 in the HOX area; a SET domain: methyltransferase; methyltates H3, including histones in the HOX area for allowing chromatin to be open to transcription. MLL is cleaved by taspase 1 into 2 proteins before entering the nucleus: a p300/320 N-term protein called MLL-N, and a p180 C-term protein, called MLL-C. The FYRN and a FRYC domains of native MLL associate MLL-N and MLL-C in a stable complex; they form a multiprotein complex with transcription factor TFIID.
 
Expression wide; especially in: brain, kidney, thyroid; expressed in Taned B lymphocytes and myeloid cells
Localisation nuclear, in punctate spots
Function transcriptional regulatory factor; MLL may have yin-yang functions through actions of MLL-N and MLL-C (e.g. desacetylation/acetylation); MLL-N acts as a transcriptional repressor; MLL can be associated with more than 30 proteins, including the core components of the SWI/SNF chromatin remodeling complex and the transcription complex TFIID. MLL binds promotors of HOX genes through acetylation and methylation of histones. MLL is a major regulator of hematopoesis and embryonic development, through regulation of HOX genes expression regulation ( HOXA9 in particular).
Homology trithorax (Drosophila), ALR (human), MLL2 (human)

Mutations

Note MLL is implicated in at least 10 % of acute leukaemias (AL) of various types: acute lymphoblastic leukemias (ALL), acute non lymphocytic leukemias (AML), biphenotypic ALs, treatment related leukemias, infant leukemias; the prognosis is poor

Implicated in

Note
  
Entity t(4;11)(q21;q23)/acute leukaemias --> KMT2A-AFF1 (AF4)
Disease typically CD19+ CD10-precursor B-ALL, biphenotypic AL, at times AML (M4/M5); common in infants may be congenital; treatment related leukaemia (secondary to epipodophyllotoxins)
Prognosis median survival < 1yr
Cytogenetics additional chromosome anomalies are found in 1/4 of cases, one of which is the i(7q)
Hybrid/Mutated Gene 5' MLL-3' AF4; 12kb
Abnormal Protein 240 kDa protein with about 1400 aminoacids from NH2 MLL and 850 from COOH AF4 (variable breakpoints); the reciprocal may or may not be expressed
  
  
Entity t(6;11)(q27;q23) /AML -->KMT2A- MLLT4 (AF6)
Disease M5/M4 de novo and therapy related AML, T-cell ALL
Prognosis poor
  
  
Entity t(9;11) (p22;q23)/AML --> KMT2A / MLLT3 (AF9)
Disease M5/M4 de novo and therapy related AML
Prognosis the prognosis may not be as poor as in other 11q23 leukaemias in de novo cases; very poor prognosis in secondary AML cases
Cytogenetics may be overlooked; often as a sole anomaly
Hybrid/Mutated Gene variable breakpoints on both genes
Abnormal Protein N-term -- AT hook and DNA methyltransferase from MLL fused to the 192 C-term amino acids from AF9 (as breakpoints are variable, this is only an example)
  
  
Entity t(10;11)(p12;q23) /AML --> KMT2A / MLLT10 (AF10)
Disease M4 or M5 AML; ALL at times; therapy related AML
Prognosis poor
  
  
Entity t(11;19)(q23;p13.1) /AML --> KMT2A-ELL
Disease mainly M4/M5; treatment related leukemia; all ages
Prognosis very poor
Cytogenetics detected with R banding
Hybrid/Mutated Gene 5' MLL - 3' ELL
Abnormal Protein AT hook and DNA methyltransferase from MLL fused to most of ELL
Oncogenesis potential transcription factor
  
  
Entity t(11;19)(q23;p13.3) /acute leukaemias --> KMT2A-MLLT1 (ENL)
Disease ALL (CD19+), biphenotypic AL, AML (M4/M5); mainly congenital; treatment-related leukaemia
Prognosis very poor, except in rare T-cell cases
Cytogenetics detected with G banding
Hybrid/Mutated Gene 5' MLL - 3' ENL
Abnormal Protein AT hook and DNA methyltransferase from MLL fused to, most often, the nearly entire ENL
  
  
Entity Other entities:
  
Entity
  • t(X;11)(q13;q23)/AML, T-ALL --> KMT2A / AFX1
  •   
    Entity
  • t(X;11)(q22;q23)/AML --> KMT2A / SEPT2
  •   
    Entity
  • t(1;11)(p32;q23)/ALL --> KMT2A / EB15 (AF1p)
  •   
    Entity
  • t(1;11)(q21;q23)/AML --> KMT2A / MLLT11 (AF1q)
  •   
    Entity
  • t(2;11)(q11;q23)/ALL --> KMT2A / AFF3 (LAF4)
  •   
    Entity
  • t(3;11)(p21;q23)/t-AML, ALL--> KMT2A / NCKIPSD (AF3p21)
  •   
    Entity
  • t(3;11)(q21;q23)/ALL --> KMT2A / EEFSEC (SELB)
  •   
    Entity
  • t(3;11)(q25;q23)/t-AML --> KMT2A / GMPS
  •   
    Entity
  • t(3;11)(q28;q23)/AML --> KMT2A / LPP
  •   
    Entity
  • t(4;11)(p12;q23) --> KMT2A / FRYL
  •   
    Entity
  • t(4;11)(q12;q23) --> KMT2A / USP46
  •   
    Entity
  • t(4;11)(q21;q23)/atypical CML --> KMT2A / SEPT11
  •   
    Entity
  • t(4;11)(q35;q23)--> KMT2A / ArgBP2
  •   
    Entity
  • t(5;11)(q31;q23)/AML, ALL --> KMT2A / ARHGAP26 (GRAF)
  •   
    Entity
  • ins(5;11)(q31;q13q23)/ALL --> KMT2A / AFF4 (AF5q31)
  •   
    Entity
  • t(6;11)(q12;q23)/AML --> KMT2A / SMAP1
  •   
    Entity
  • t(6;11)(q21;q23)/AML --> KMT2A / FOXO3 (AF6q21)
  •   
    Entity
  • t(9;11)(q34;q23)/AML --> KMT2A / DAB2IP (AF9q34)
  •   
    Entity
  • t(10;11)(p11;q23)/AML --> KMT2A / ABI1
  •   
    Entity
  • t(10;11)(q21;q23)/AML --> KMT2A / TET1
  •   
    Entity
  • t(11;11)(q21;q23)/AML --> KMT2A / PICALM
  •   
    Entity
  • trisomy 11/AML --> KMT2A tandem duplication
  •   
    Entity
  • t(11;11)(q23;q23)/AML --> KMT2A / CBL
  •   
    Entity
  • t(11;11)(q23;q23)/AML --> KMT2A / ARHGEF12 (LARG)
  •   
    Entity
  • t(11;11)(q23;q24)/AML --> KMT2A / TIRAP
  •   
    Entity
  • t(11;12)(q23;q13)/AML --> KMT2A / SARNP
  •   
    Entity
  • t(11;14)(q23;q24)/AML, AUL --> KMT2A / GPHN
  •   
    Entity
  • t(11;15)(q23;q14)/AML, ALL --> KMT2A / KNL1 (AF15q14)
  •   
    Entity
  • t(11;15)(q23;q14) --> KMT2A / CLDN4
  •   
    Entity
  • t(11;15)(q23;q15) --> KMT2A / AF15
  •   
    Entity
  • t(11;16)(q23;p13)/MDS, AML, t-AML, ALL --> KMT2A / CREBBP (CBP)
  •   
    Entity
  • t(11;17)(q23;p13)/t-AML --> KMT2A / GAS7
  •   
    Entity
  • t(11;17)(q23;q21)/AML --> KMT2A / ACACA
  •   
    Entity
  • t(11;17)(q23;q21)/AML --> KMT2A / LASP1
  •   
    Entity
  • t(11;17)(q23;q21)/ AML --> KMT2A / MLLT6 (AF17)
  •   
    Entity
  • t(11;17)(q23;q21)/AML --> KMT2A / RARA
  •   
    Entity
  • t(11;17)(q23;q25)/ MDS, AML --> KMT2A / SEPT9 (MSF1, AF17q25)
  •   
    Entity
  • t(11;19)(q23;p13)/AML --> KMT2A / SH3GLI1 (EEN)
  •   
    Entity
  • t(11;19)(q23;p13)/AML --> KMT2A / MYO1F
  •   
    Entity
  • t(11;20)(q23;q11)/ALL --> KMT2A / MAPRE1 (EB1)
  •   
    Entity
  • t(11;22)(q23;q11.2)/AML --> KMT2A / SEPT5 (hCDCRel)
  •   
    Entity
  • t(11;22)(q23;q13) /AML --> KMT2A / EP300 (P300)
  •   

    Breakpoints

     
    Note spanning a 8 kb genomic region; between exons 5 to 11; highly variable on the partner, ranging from close to the NH2-term in MLLT1 (ENL), to near the COOH-term in MLLT3 (AF9)

    To be noted

    the card on 11q23 rearrangements, gives an overview on diseases implicating MLL, as well as 11q23 rearrangements in therapy related leukaemias
    See also 11q23 rearrangements in childhood acute lymphoblastic leukemia: Clinical aspects and congenital leukemias

    Bibliography

    Molecular basis of 11q23 rearrangements in hematopoietic malignant proliferations.
    Bernard OA, Berger R
    Genes, chromosomes & cancer. 1995 ; 13 (2) : 75-85.
    PMID 7542910
     
    Mll rearrangements in haematological malignancies: lessons from clinical and biological studies.
    Dimartino JF, Cleary ML
    British journal of haematology. 1999 ; 106 (3) : 614-626.
    PMID 10468849
     
    MLL2, the second human homolog of the Drosophila trithorax gene, maps to 19q13.1 and is amplified in solid tumor cell lines.
    Huntsman DG, Chin SF, Muleris M, Batley SJ, Collins VP, Wiedemann LM, Aparicio S, Caldas C
    Oncogene. 1999 ; 18 (56) : 7975-7984.
    PMID 10637508
     
    Exon/intron structure of the human ALL-1 (MLL) gene involved in translocations to chromosomal region 11q23 and acute leukaemias.
    Nilson I, Löchner K, Siegler G, Greil J, Beck JD, Fey GH, Marschalek R
    British journal of haematology. 1996 ; 93 (4) : 966-972.
    PMID 8703835
     
    Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.
    Prasad R, Zhadanov AB, Sedkov Y, Bullrich F, Druck T, Rallapalli R, Yano T, Alder H, Croce CM, Huebner K, Mazo A, Canaani E
    Oncogene. 1997 ; 15 (5) : 549-560.
    PMID 9247308
     
    Complete exon structure of the ALL1 gene.
    Rasio D, Schichman SA, Negrini M, Canaani E, Croce CM
    Cancer research. 1996 ; 56 (8) : 1766-1769.
    PMID 8620491
     
    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
     
    Self-fusion of the ALL1 gene. A new genetic mechanism for acute leukemia.
    Schichman SA, Canaani E, Croce CM
    JAMA : the journal of the American Medical Association. 1995 ; 273 (7) : 571-576.
    PMID 7837391
     
    Disruption of a homolog of trithorax by 11q23 translocations: leukemogenic and transcriptional implications.
    Waring PM, Cleary ML
    Current topics in microbiology and immunology. 1997 ; 220 : 1-23.
    PMID 9103672
     
    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
    MLL (myeloid/lymphoid or mixed lineage leukemia)
    Atlas Genet Cytogenet Oncol Haematol. 2006;10(2):83-87.
    Free journal version : [ pdf ]   [ DOI ]
    On line version : http://AtlasGeneticsOncology.org/Genes/MLLID13.html
    History of this paper:
    Huret, JL. MLL (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):68-69.
    http://documents.irevues.inist.fr/bitstream/handle/2042/32057/12-1997-MLLID13.pdf
    Hess, JL ; Huret, JL. MLL (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. 2001;5(1):11-13.
    http://documents.irevues.inist.fr/bitstream/handle/2042/37692/12-2000-MLL.pdf
    Marschalek, R. MLL (myeloid/lymphoid or mixed lineage leukemia). Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):16-18.
    http://documents.irevues.inist.fr/bitstream/handle/2042/37925/11-2002-MLL.pdf


    Other Leukemias implicated (Data extracted from papers in the Atlas)

    Leukemias 11q23ID1030 11q23secondLeukID1131 del11q23q23ID1412 del11q23q23ID1420 ins0X11q28q23q23KMT2A_FLNAID1804
    ins511ID1167 inv11p15q23ID1605 inv11q13q23ID1585 inv11q21q23ID1471 MLLampliID1547
    PediatrTCellALLID1292 t0111p32q23ID1046 t0211ID1109 t0211q11q23ID1196 t0211q33q23ID2159
    t0211q37q23ANLLID1457 t0311ID1165 t0311q21q23ID1407 t0311q28q23ID1223 t0411ID1051
    t0411p12q23ID1405 t0411q35q23ID1423 t0511ID1192 t0611ID1015 t0611q13q23ID1408
    t0611q15q23ID1522 t0611q21q23ID1128 t0911FBPID1205 t0911ID1001 t0911q34q23ID1197
    t0X11ID1127 t0X11q22q23ID1573 t0X11q24q23ID1219 t0X11q26q23ID1589 t1011ID1025
    t1011ID1178 t1011p12q23ID1702 t1011q22q23ID1410 t1111q13q23ID1541 t1111q14q23ID1411
    t1112q23q13MLLID1400 t1114q23q24ID1198 t1114q23q32ID1539 t1115ID1199 t1115q23q14ID1421
    t1116q23p13ID1120 t1116q23q24KMT2A-USP10ID1802 t1117ID1133 t1117ID1137 t1117ID1179
    t1117q23q12AF17ID1027 t1117q23q21ID1414 t1117q23q21LASP1ID1367 t1119ELLID1029 t1119ENLID1071
    t1119q23p13ID1194 t1119q23p13ID1406 t1119q23p13ID1540 t111ID1004 t1120q23q11ID1415
    t1122hCDCrelID1183 t1122P300ID1121 t311GMPSID1173 t311q13q23MLLKIAA1524ID1593 TL_del11q24ID2901
    TL_ins0411q21q23q23ID2532 TL_ins0411q21q23q23ID2665 TL_ins0411q21q23q23ID2740 TL_ins1104q23q21q24ID3008 TL_ins1104q23q21q31ID2678
    TL_insX11q26q23q23ID2874 TL_t0111p13q23ID2898 TL_t0211q11q23ID2878 TL_t0311p21q23ID2876 TL_t0311p21q23ID2896
    TL_t0311q13q23ID2873 TL_t0411p14q23ID2892 TL_t0411q12q23ID1422 TL_t0411q12q23ID2905 TL_t0411q21q23ID1338
    TL_t0411q21q23ID2897 TL_t0511q12q23ID2597 TL_t0511q14q23ID2948 TL_t0511q23q23ID2894 TL_t0511q31q23ID2885
    TL_t0511q33q23ID2871 TL_t0611q15q23ID2870 TL_t0611q23q23ID2884 TL_t0611q27q23ID2510 TL_t0711p22q23ID2902
    TL_t0711q21q23ID2587 TL_t0711q21q23ID2895 TL_t0911q22q23ID2881 TL_t0911q34q23ID2883 TL_t1111p15q23ID2866
    TL_t1111p15q23ID2891 TL_t1111p15q23ID3468 TL_t1111q12q23ID2893 TL_t1111q12q23ID3338 TL_t1111q13q23ID2869
    TL_t1111q23q23ID2867 TL_t1111q23q23ID2868 TL_t1111q23q23ID2872 TL_t1111q23q23ID2904 TL_t1111q23q23ID3153
    TL_t1111q23q24ID2877 TL_t1111q24q23ID1413 TL_t1112q23p12ID2912 TL_t1113q23q14ID1617 TL_t1113q23q14ID2907
    TL_t1114q23q24ID3134 TL_t1115q23q14ID3476 TL_t1115q23q15ID2882 TL_t1115q23q21ID2900 TL_t1115q23q25ID2865
    TL_t1116q23p13ID2888 TL_t1116q23q12ID2890 TL_t1117q23p11ID1621 TL_t1117q23p11ID2903 TL_t1118q23q21ID2886
    TL_t1119q23p13ID1406 TL_t1119q23p13ID2899 TL_t1119q23p13ID2906 TL_t1119q23q13ID1394 TL_t1119q23q13ID2864
    TL_tX11q26q23ID2875 tri11ID1026


    Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]

    Solid Tumors TT_del11q23q23ID100009 TT_t0611q21q23ID106876 TT_t1111q12q23ID100626 TT_t1116q23q24ID100947


    External links

    Nomenclature
    HGNC (Hugo)KMT2A   7132
    LRG (Locus Reference Genomic)LRG_613
    Cards
    AtlasMLLID13
    Entrez_Gene (NCBI)KMT2A  4297  lysine methyltransferase 2A
    AliasesALL-1; CXXC7; HRX; HTRX1; 
    MLL; MLL1; MLL1A; TRX1; WDSTS
    GeneCards (Weizmann)KMT2A
    Ensembl hg19 (Hinxton)ENSG00000118058 [Gene_View]
    Ensembl hg38 (Hinxton)ENSG00000118058 [Gene_View]  ENSG00000118058 [Sequence]  chr11:118436490-118526824 [Contig_View]  KMT2A [Vega]
    ICGC DataPortalENSG00000118058
    TCGA cBioPortalKMT2A
    AceView (NCBI)KMT2A
    Genatlas (Paris)KMT2A
    WikiGenes4297
    SOURCE (Princeton)KMT2A
    Genetics Home Reference (NIH)KMT2A
    Genomic and cartography
    GoldenPath hg38 (UCSC)KMT2A  -     chr11:118436490-118526824 +  11q23.3   [Description]    (hg38-Dec_2013)
    GoldenPath hg19 (UCSC)KMT2A  -     11q23.3   [Description]    (hg19-Feb_2009)
    GoldenPathKMT2A - 11q23.3 [CytoView hg19]  KMT2A - 11q23.3 [CytoView hg38]
    ImmunoBaseENSG00000118058
    Mapping of homologs : NCBIKMT2A [Mapview hg19]  KMT2A [Mapview hg38]
    OMIM159555   605130   
    Gene and transcription
    Genbank (Entrez)AB209508 AF024540 AF232000 AF232001 AF272370
    RefSeq transcript (Entrez)NM_001197104 NM_005933 NM_024891
    RefSeq genomic (Entrez)
    Consensus coding sequences : CCDS (NCBI)KMT2A
    Cluster EST : UnigeneHs.258855 [ NCBI ]
    CGAP (NCI)Hs.258855
    Alternative Splicing GalleryENSG00000118058
    Gene ExpressionKMT2A [ NCBI-GEO ]   KMT2A [ EBI - ARRAY_EXPRESS ]   KMT2A [ SEEK ]   KMT2A [ MEM ]
    Gene Expression Viewer (FireBrowse)KMT2A [ Firebrowse - Broad ]
    SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
    GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)4297
    GTEX Portal (Tissue expression)KMT2A
    Human Protein AtlasENSG00000118058-KMT2A [pathology]   [cell]   [tissue]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtQ03164   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
    NextProtQ03164  [Sequence]  [Exons]  [Medical]  [Publications]
    With graphics : InterProQ03164
    Splice isoforms : SwissVarQ03164
    PhosPhoSitePlusQ03164
    Domaine pattern : Prosite (Expaxy)BROMODOMAIN_2 (PS50014)    EPHD (PS51805)    FYRC (PS51543)    FYRN (PS51542)    POST_SET (PS50868)    SET (PS50280)    ZF_CXXC (PS51058)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
    Domains : Interpro (EBI)Bromodomain    Bromodomain-like_sf    EPHD    FYrich_C    FYrich_N    KMT2A    MeTrfase_trithorax    Post-SET_dom    SET_dom    Znf_CXXC    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
    Domain families : Pfam (Sanger)FYRC (PF05965)    FYRN (PF05964)    PHD (PF00628)    SET (PF00856)    zf-CXXC (PF02008)   
    Domain families : Pfam (NCBI)pfam05965    pfam05964    pfam00628    pfam00856    pfam02008   
    Domain families : Smart (EMBL)BROMO (SM00297)  FYRC (SM00542)  FYRN (SM00541)  PHD (SM00249)  PostSET (SM00508)  SET (SM00317)  
    Conserved Domain (NCBI)KMT2A
    DMDM Disease mutations4297
    Blocks (Seattle)KMT2A
    PDB (RSDB)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2MSR    2MTN    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6    4NW3    5F5E    5F6L   
    PDB Europe2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2MSR    2MTN    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6    4NW3    5F5E    5F6L   
    PDB (PDBSum)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2MSR    2MTN    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6    4NW3    5F5E    5F6L   
    PDB (IMB)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2MSR    2MTN    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6    4NW3    5F5E    5F6L   
    Structural Biology KnowledgeBase2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2MSR    2MTN    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6    4NW3    5F5E    5F6L   
    SCOP (Structural Classification of Proteins)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2MSR    2MTN    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6    4NW3    5F5E    5F6L   
    CATH (Classification of proteins structures)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2MSR    2MTN    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6    4NW3    5F5E    5F6L   
    SuperfamilyQ03164
    Human Protein Atlas [tissue]ENSG00000118058-KMT2A [tissue]
    Peptide AtlasQ03164
    HPRD01162
    IPIIPI00009286   IPI00218500   IPI00982112   IPI00387009   IPI00984625   IPI00384732   IPI00384738   IPI01008791   IPI00387010   IPI00387011   IPI00387012   IPI00387013   IPI01026346   IPI00984052   IPI00980012   
    Protein Interaction databases
    DIP (DOE-UCLA)Q03164
    IntAct (EBI)Q03164
    FunCoupENSG00000118058
    BioGRIDKMT2A
    STRING (EMBL)KMT2A
    ZODIACKMT2A
    Ontologies - Pathways
    QuickGOQ03164
    Ontology : AmiGORNA polymerase II distal enhancer sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  AT DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytosol  transcription by RNA polymerase II  apoptotic process  zinc ion binding  positive regulation of transporter activity  circadian regulation of gene expression  histone methyltransferase complex  histone methyltransferase complex  embryonic hemopoiesis  histone methyltransferase activity (H3-K4 specific)  histone methyltransferase activity (H3-K4 specific)  histone methyltransferase activity (H3-K4 specific)  histone methyltransferase activity (H3-K4 specific)  identical protein binding  protein homodimerization activity  histone H4-K16 acetylation  transcription regulatory region DNA binding  unmethylated CpG binding  regulation of megakaryocyte differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  histone H3-K4 methylation  histone H3-K4 methylation  histone H3-K4 methylation  positive regulation of histone H3-K4 methylation  protein-containing complex assembly  lysine-acetylated histone binding  MLL1 complex  regulation of histone H3-K14 acetylation  histone H3-K4 trimethylation  regulation of hematopoietic stem cell differentiation  negative regulation of DNA methylation  regulation of histone H3-K9 acetylation  positive regulation of cellular response to drug  
    Ontology : EGO-EBIRNA polymerase II distal enhancer sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  AT DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytosol  transcription by RNA polymerase II  apoptotic process  zinc ion binding  positive regulation of transporter activity  circadian regulation of gene expression  histone methyltransferase complex  histone methyltransferase complex  embryonic hemopoiesis  histone methyltransferase activity (H3-K4 specific)  histone methyltransferase activity (H3-K4 specific)  histone methyltransferase activity (H3-K4 specific)  histone methyltransferase activity (H3-K4 specific)  identical protein binding  protein homodimerization activity  histone H4-K16 acetylation  transcription regulatory region DNA binding  unmethylated CpG binding  regulation of megakaryocyte differentiation  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  histone H3-K4 methylation  histone H3-K4 methylation  histone H3-K4 methylation  positive regulation of histone H3-K4 methylation  protein-containing complex assembly  lysine-acetylated histone binding  MLL1 complex  regulation of histone H3-K14 acetylation  histone H3-K4 trimethylation  regulation of hematopoietic stem cell differentiation  negative regulation of DNA methylation  regulation of histone H3-K9 acetylation  positive regulation of cellular response to drug  
    Pathways : KEGGLysine degradation    Transcriptional misregulation in cancer   
    REACTOMEQ03164 [protein]
    REACTOME PathwaysR-HSA-8939236 [pathway]   
    NDEx NetworkKMT2A
    Atlas of Cancer Signalling NetworkKMT2A
    Wikipedia pathwaysKMT2A
    Orthology - Evolution
    OrthoDB4297
    GeneTree (enSembl)ENSG00000118058
    Phylogenetic Trees/Animal Genes : TreeFamKMT2A
    HOGENOMQ03164
    Homologs : HomoloGeneKMT2A
    Homology/Alignments : Family Browser (UCSC)KMT2A
    Gene fusions - Rearrangements
    Fusion : MitelmanARHGAP18/KMT2A [6q22.33/11q23.3]  [t(6;6)(q22;q22)]  
    Fusion : MitelmanKMT2A/ATAD2 [11q23.3/8q24.13]  [t(8;8)(q24;q24)]  
    Fusion : MitelmanKMT2A/NKAIN3 [11q23.3/8q12.3]  [t(8;8)(q12;q24)]  
    Fusion : MitelmanKMT2A/ROS1 [11q23.3/6q22.1]  [t(6;6)(q22;q22)]  
    Fusion : MitelmanKMT2A/SYTL3 [11q23.3/6q25.3]  [t(6;6)(q22;q25)]  
    Fusion : COSMICABI1 [10p12.1]  -  KMT2A [11q23.3]  [fusion_1868]  
    Fusion : COSMICACTN4 [19q13.2]  -  KMT2A [11q23.3]  [fusion_2027]  [fusion_2028]  
    Fusion : COSMICAFF1 [4q21.3]  -  KMT2A [11q23.3]  [fusion_1831]  [fusion_1832]  [fusion_2075]  [fusion_2076]  
    Fusion : COSMICBTBD18 [11q12.1]  -  KMT2A [11q23.3]  [fusion_2056]  
    Fusion : COSMICCREBBP [16p13.3]  -  KMT2A [11q23.3]  [fusion_1877]  [fusion_1878]  [fusion_2094]  [fusion_2111]  [fusion_2112]  [fusion_2113]  [fusion_2114]  
    [fusion_2115]  
    Fusion : COSMICDAB2IP [9q33.2]  -  KMT2A [11q23.3]  [fusion_1855]  
    Fusion : COSMICEPS15 [1p32.3]  -  KMT2A [11q23.3]  [fusion_2000]  [fusion_2001]  [fusion_2005]  [fusion_2006]  
    Fusion : COSMICFRYL [4p11]  -  KMT2A [11q23.3]  [fusion_1969]  
    Fusion : COSMICGAS7 [17p13.1]  -  KMT2A [11q23.3]  [fusion_1894]  
    Fusion : COSMICKMT2A [11q23.3]  -  ABI1 [10p12.1]  [fusion_1864]  [fusion_1865]  [fusion_1866]  [fusion_1867]  
    Fusion : COSMICKMT2A [11q23.3]  -  ABI2 [2q33.2]  [fusion_1835]  [fusion_1836]  [fusion_1837]  [fusion_1838]  
    Fusion : COSMICKMT2A [11q23.3]  -  ACTN4 [19q13.2]  [fusion_2025]  [fusion_2026]  [fusion_2029]  
    Fusion : COSMICKMT2A [11q23.3]  -  AFF1 [4q21.3]  [fusion_1799]  [fusion_1800]  [fusion_1801]  [fusion_1802]  [fusion_1827]  [fusion_1828]  [fusion_1829]  
    [fusion_1830]  [fusion_1947]  [fusion_1948]  [fusion_1949]  [fusion_1951]  [fusion_1953]  [fusion_1954]  [fusion_1955]  [fusion_1956]  [fusion_1957]  
    [fusion_1958]  [fusion_2023]  [fusion_2024]  [fusion_2066]  [fusion_2067]  [fusion_2068]  [fusion_2073]  [fusion_2074]  [fusion_2090]  [fusion_2091]  
    [fusion_2092]  
    Fusion : COSMICKMT2A [11q23.3]  -  AFF3 [2q11.2]  [fusion_1784]  [fusion_1785]  [fusion_1816]  [fusion_2030]  [fusion_2031]  [fusion_2032]  
    Fusion : COSMICKMT2A [11q23.3]  -  AFF4 [5q31.1]  [fusion_1797]  [fusion_1798]  [fusion_1815]  [fusion_1824]  [fusion_1825]  
    Fusion : COSMICKMT2A [11q23.3]  -  ARHGAP26 [5q31.3]  [fusion_1936]  [fusion_1937]  [fusion_1938]  [fusion_1939]  
    Fusion : COSMICKMT2A [11q23.3]  -  ARHGEF12 [11q23.3]  [fusion_1846]  [fusion_1847]  
    Fusion : COSMICKMT2A [11q23.3]  -  BTBD18 [11q12.1]  [fusion_2054]  [fusion_2055]  
    Fusion : COSMICKMT2A [11q23.3]  -  CASC5 [1869]  [fusion_1870]  [fusion_1871]  [fusion_1879]  [fusion_1880]  [fusion_1881]  [fusion_1943]  
    Fusion : COSMICKMT2A [11q23.3]  -  CASP8AP2 [6q15]  [fusion_2058]  
    Fusion : COSMICKMT2A [11q23.3]  -  CBL [11q23.3]  [fusion_1970]  [fusion_1971]  
    Fusion : COSMICKMT2A [11q23.3]  -  CREBBP [16p13.3]  [fusion_1874]  [fusion_1875]  [fusion_1876]  [fusion_2093]  [fusion_2095]  [fusion_2097]  [fusion_2098]  
    [fusion_2109]  [fusion_2110]  [fusion_2116]  [fusion_2117]  
    Fusion : COSMICKMT2A [11q23.3]  -  CT45A2 [Xq26.3]  [fusion_2070]  [fusion_2071]  [fusion_2072]  
    Fusion : COSMICKMT2A [11q23.3]  -  DAB2IP [9q33.2]  [fusion_1853]  [fusion_1854]  
    Fusion : COSMICKMT2A [11q23.3]  -  EEFSEC [3q21.3]  [fusion_2064]  
    Fusion : COSMICKMT2A [11q23.3]  -  ELL [19p13.11]  [fusion_1988]  [fusion_1989]  [fusion_1990]  [fusion_1991]  [fusion_1992]  [fusion_1993]  [fusion_1994]  
    [fusion_1995]  [fusion_1996]  [fusion_1997]  
    Fusion : COSMICKMT2A [11q23.3]  -  EP300 [22q13.2]  [fusion_1906]  [fusion_1907]  [fusion_1908]  [fusion_1909]  [fusion_1910]  [fusion_1911]  [fusion_1912]  
    [fusion_1913]  
    Fusion : COSMICKMT2A [11q23.3]  -  EPS15 [1p32.3]  [fusion_1998]  [fusion_1999]  [fusion_2002]  [fusion_2003]  [fusion_2004]  [fusion_2007]  [fusion_2008]  
    Fusion : COSMICKMT2A [11q23.3]  -  FOXO3 [6q21]  [fusion_1795]  [fusion_1796]  [fusion_1813]  [fusion_1814]  
    Fusion : COSMICKMT2A [11q23.3]  -  FOXO4 [Xq13.1]  [fusion_1976]  
    Fusion : COSMICKMT2A [11q23.3]  -  FRYL [4p11]  [fusion_1968]  
    Fusion : COSMICKMT2A [11q23.3]  -  GAS7 [17p13.1]  [fusion_1890]  [fusion_1891]  [fusion_1892]  [fusion_1893]  
    Fusion : COSMICKMT2A [11q23.3]  -  GMPS [3q25.31]  [fusion_1841]  
    Fusion : COSMICKMT2A [11q23.3]  -  GPHN [14q23.3]  [fusion_1850]  [fusion_1851]  [fusion_1852]  
    Fusion : COSMICKMT2A [11q23.3]  -  KIAA0284 [2059]  [fusion_2060]  [fusion_2061]  [fusion_2062]  
    Fusion : COSMICKMT2A [11q23.3]  -  KIAA1524 [1833]  [fusion_1834]  
    Fusion : COSMICKMT2A [11q23.3]  -  LASP1 [17q12]  [fusion_1886]  [fusion_1887]  
    Fusion : COSMICKMT2A [11q23.3]  -  LPP [3q28]  [fusion_1817]  [fusion_1818]  
    Fusion : COSMICKMT2A [11q23.3]  -  MAPRE1 [20q11.21]  [fusion_1902]  
    Fusion : COSMICKMT2A [11q23.3]  -  MLLT1 [19p13.3]  [fusion_1786]  [fusion_1787]  [fusion_1803]  [fusion_1804]  [fusion_1805]  [fusion_1822]  [fusion_1823]  
    [fusion_1959]  [fusion_1960]  [fusion_1961]  [fusion_1962]  [fusion_2015]  [fusion_2016]  [fusion_2017]  [fusion_2018]  [fusion_2019]  [fusion_2020]  
    [fusion_2021]  [fusion_2022]  [fusion_2077]  [fusion_2078]  
    Fusion : COSMICKMT2A [11q23.3]  -  MLLT10 [10p12.31]  [fusion_2033]  [fusion_2034]  [fusion_2035]  [fusion_2036]  [fusion_2037]  [fusion_2038]  [fusion_2039]  
    [fusion_2040]  [fusion_2041]  [fusion_2042]  [fusion_2043]  [fusion_2044]  [fusion_2045]  [fusion_2046]  [fusion_2047]  [fusion_2048]  [fusion_2049]  
    [fusion_2050]  [fusion_2051]  [fusion_2052]  
    Fusion : COSMICKMT2A [11q23.3]  -  MLLT11 [1q21.3]  [fusion_1965]  [fusion_1977]  [fusion_1979]  [fusion_1980]  [fusion_1981]  [fusion_1982]  
    Fusion : COSMICKMT2A [11q23.3]  -  MLLT3 [9p21.3]  [fusion_1856]  [fusion_1857]  [fusion_1858]  [fusion_1861]  [fusion_1983]  [fusion_1985]  [fusion_1986]  
    [fusion_1987]  [fusion_2081]  [fusion_2082]  [fusion_2083]  [fusion_2084]  [fusion_2085]  [fusion_2086]  [fusion_2087]  [fusion_2088]  [fusion_2089]  
    Fusion : COSMICKMT2A [11q23.3]  -  MLLT4 [1806]  [fusion_1807]  [fusion_1808]  [fusion_1810]  [fusion_1811]  [fusion_1812]  [fusion_1826]  [fusion_2009]  
    [fusion_2010]  [fusion_2012]  [fusion_2013]  [fusion_2014]  
    Fusion : COSMICKMT2A [11q23.3]  -  MLLT6 [17q12]  [fusion_1882]  [fusion_1883]  [fusion_1941]  [fusion_1942]  
    Fusion : COSMICKMT2A [11q23.3]  -  MYO1F [19p13.2]  [fusion_1884]  [fusion_1885]  
    Fusion : COSMICKMT2A [11q23.3]  -  NCKIPSD [3p21.31]  [fusion_1944]  [fusion_1946]  
    Fusion : COSMICKMT2A [11q23.3]  -  NRIP3 [11p15.4]  [fusion_2053]  
    Fusion : COSMICKMT2A [11q23.3]  -  PDS5A [4p14]  [fusion_1842]  [fusion_1843]  
    Fusion : COSMICKMT2A [11q23.3]  -  PICALM [11q14.2]  [fusion_1966]  [fusion_1967]  
    Fusion : COSMICKMT2A [11q23.3]  -  PRRC1 [5q23.2]  [fusion_2063]  
    Fusion : COSMICKMT2A [11q23.3]  -  SARNP [12q13.2]  [fusion_1848]  [fusion_1849]  
    Fusion : COSMICKMT2A [11q23.3]  -  SEPT2 [1972]  [fusion_1973]  [fusion_1974]  [fusion_1975]  
    Fusion : COSMICKMT2A [11q23.3]  -  SEPT5 [1844]  [fusion_1845]  
    Fusion : COSMICKMT2A [11q23.3]  -  SEPT6 [1916]  [fusion_1917]  [fusion_1918]  [fusion_1919]  [fusion_1922]  [fusion_1923]  [fusion_1924]  [fusion_1925]  
    [fusion_1926]  [fusion_2069]  
    Fusion : COSMICKMT2A [11q23.3]  -  SEPT9 [1927]  [fusion_1928]  [fusion_1929]  [fusion_1930]  [fusion_1931]  [fusion_1932]  [fusion_1933]  [fusion_1934]  
    [fusion_1935]  [fusion_2065]  
    Fusion : COSMICKMT2A [11q23.3]  -  SH3GL1 [19p13.3]  [fusion_1914]  [fusion_1915]  
    Fusion : COSMICKMT2A [11q23.3]  -  SORBS2 [4q35.1]  [fusion_1839]  [fusion_1840]  
    Fusion : COSMICKMT2A [11q23.3]  -  TET1 [10q21.3]  [fusion_1898]  [fusion_1899]  [fusion_1900]  [fusion_2118]  
    Fusion : COSMICKMT2A [11q23.3]  -  TOP3A [17p11.2]  [fusion_1895]  [fusion_1896]  
    Fusion : COSMICKMT2A [11q23.3]  -  ZFYVE19 [15q15.1]  [fusion_1872]  [fusion_1873]  
    Fusion : COSMICLASP1 [17q12]  -  KMT2A [11q23.3]  [fusion_1888]  [fusion_1889]  
    Fusion : COSMICLPP [3q28]  -  KMT2A [11q23.3]  [fusion_1820]  [fusion_1821]  
    Fusion : COSMICMAPRE1 [20q11.21]  -  KMT2A [11q23.3]  [fusion_1903]  [fusion_1904]  
    Fusion : COSMICMLLT1 [19p13.3]  -  KMT2A [11q23.3]  [fusion_2079]  [fusion_2080]  
    Fusion : COSMICMLLT3 [9p21.3]  -  KMT2A [11q23.3]  [fusion_1984]  
    Fusion : COSMICTET1 [10q21.3]  -  KMT2A [11q23.3]  [fusion_1901]  
    Fusion : COSMICTOP3A [17p11.2]  -  KMT2A [11q23.3]  [fusion_1897]  
    Fusion : TICdbCDK6 [7q21.2]  -  KMT2A [11q23.3]
    Fusion : TICdbKMT2A [11q23.3]  -  ABI1 [10p12.1]
    Fusion : TICdbKMT2A [11q23.3]  -  ABI2 [2q33.2]
    Fusion : TICdbKMT2A [11q23.3]  -  ACACA [17q12]
    Fusion : TICdbKMT2A [11q23.3]  -  AFF1 [4q21.3]
    Fusion : TICdbKMT2A [11q23.3]  -  AFF3 [2q11.2]
    Fusion : TICdbKMT2A [11q23.3]  -  AFF4 [5q31.1]
    Fusion : TICdbKMT2A [11q23.3]  -  ARHGAP26 [5q31.3]
    Fusion : TICdbKMT2A [11q23.3]  -  ARHGEF12 [11q23.3]
    Fusion : TICdbKMT2A [11q23.3]  -  CASC5 [15q15.1]
    Fusion : TICdbKMT2A [11q23.3]  -  CASP8AP2 [6q15]
    Fusion : TICdbKMT2A [11q23.3]  -  CBL [11q23.3]
    Fusion : TICdbKMT2A [11q23.3]  -  CEP170B [14q32.33]
    Fusion : TICdbKMT2A [11q23.3]  -  CREBBP [16p13.3]
    Fusion : TICdbKMT2A [11q23.3]  -  DAB2IP [9q33.2]
    Fusion : TICdbKMT2A [11q23.3]  -  EEFSEC [3q21.3]
    Fusion : TICdbKMT2A [11q23.3]  -  ELL [19p13.11]
    Fusion : TICdbKMT2A [11q23.3]  -  EP300 [22q13.2]
    Fusion : TICdbKMT2A [11q23.3]  -  EPS15 [1p32.3]
    Fusion : TICdbKMT2A [11q23.3]  -  FLNA [Xq28]
    Fusion : TICdbKMT2A [11q23.3]  -  FOXO3 [6q21]
    Fusion : TICdbKMT2A [11q23.3]  -  GAS7 [17p13.1]
    Fusion : TICdbKMT2A [11q23.3]  -  GMPS [3q25.31]
    Fusion : TICdbKMT2A [11q23.3]  -  GPHN [14q23.3]
    Fusion : TICdbKMT2A [11q23.3]  -  KIAA1524 [3q13.13]
    Fusion : TICdbKMT2A [11q23.3]  -  LASP1 [17q12]
    Fusion : TICdbKMT2A [11q23.3]  -  LPP [3q28]
    Fusion : TICdbKMT2A [11q23.3]  -  MAML2 [11q21]
    Fusion : TICdbKMT2A [11q23.3]  -  MAPRE1 [20q11.21]
    Fusion : TICdbKMT2A [11q23.3]  -  MLLT1 [19p13.3]
    Fusion : TICdbKMT2A [11q23.3]  -  MLLT10 [10p12.31]
    Fusion : TICdbKMT2A [11q23.3]  -  MLLT11 [1q21.3]
    Fusion : TICdbKMT2A [11q23.3]  -  MLLT3 [9p21.3]
    Fusion : TICdbKMT2A [11q23.3]  -  MLLT4 [6q27]
    Fusion : TICdbKMT2A [11q23.3]  -  MLLT6 [17q12]
    Fusion : TICdbKMT2A [11q23.3]  -  MYO1F [19p13.2]
    Fusion : TICdbKMT2A [11q23.3]  -  NCKIPSD [3p21.31]
    Fusion : TICdbKMT2A [11q23.3]  -  NEBL [10p12.31]
    Fusion : TICdbKMT2A [11q23.3]  -  PDS5A [4p14]
    Fusion : TICdbKMT2A [11q23.3]  -  PICALM [11q14.2]
    Fusion : TICdbKMT2A [11q23.3]  -  SACM1L [3p21.31]
    Fusion : TICdbKMT2A [11q23.3]  -  SEPT11 [4q21.1]
    Fusion : TICdbKMT2A [11q23.3]  -  SEPT2 [2q37.3]
    Fusion : TICdbKMT2A [11q23.3]  -  SEPT5 [22q11.21]
    Fusion : TICdbKMT2A [11q23.3]  -  SEPT6 [Xq24]
    Fusion : TICdbKMT2A [11q23.3]  -  SEPT9 [17q25.2]
    Fusion : TICdbKMT2A [11q23.3]  -  SH3GL1 [19p13.3]
    Fusion : TICdbKMT2A [11q23.3]  -  SORBS2 [4q35.1]
    Fusion : TICdbKMT2A [11q23.3]  -  TET1 [10q21.3]
    Fusion : TICdbKMT2A [11q23.3]  -  ZFYVE19 [15q15.1]
    Fusion : TICdbNUP98 [11p15.4]  -  KMT2A [11q23.3]
    Fusion : FusionGDB1002    10376    11440    13986    19082    19083    19084    19085    19086    19087    19088    19089    19090    19091    19092   
    19093    19094    19095    19096    19097    19098    19099    19100    19101    19102    19103    19104    19105    19106    19107   
    19108    19109    19110    19111    19112    20704    21049    22158    22167    372    37548    37766    39505    593    6581   
    Fusion : Fusion_HubABI1--KMT2A    ABI2--KMT2A    ABL2--KMT2A    ACTN4--KMT2A    AFF1--KMT2A    AFF3--KMT2A    AFF4--KMT2A    ARHGAP26--KMT2A    ARHGEF12--KMT2A    ARHGEF17--KMT2A    ATG16L2--KMT2A    BCL9L--KMT2A    BTBD18--KMT2A    C2CD3--KMT2A    CASC5--KMT2A   
    CASP8AP2--KMT2A    CBL--KMT2A    CDK6--KMT2A    CENPK--KMT2A    CEP170B--KMT2A    CIP29--KMT2A    CREBBP--KMT2A    CT45A2--KMT2A    DAB2IP--KMT2A    DCPS--KMT2A    DSCAML1--KMT2A    EEFSEC--KMT2A    ELL--KMT2A    EP300--KMT2A    EPS15--KMT2A   
    FLNA--KMT2A    FNBP1--KMT2A    FNIP2--KMT2A    FOXO3--KMT2A    FOXO4--KMT2A    FOXR1--KMT2A    FRYL--KMT2A    FXYD6--KMT2A    GAS7--KMT2A    GMPS--KMT2A    GPHN--KMT2A    KIAA0284--KMT2A    KIAA1524--KMT2A    KMT2A--ABI1    KMT2A--ABI2   
    KMT2A--ACTN4    KMT2A--AFDN    KMT2A--AFF1    KMT2A--AFF3    KMT2A--AFF4    KMT2A--ALK    KMT2A--ARHGAP26    KMT2A--ARHGEF12    KMT2A--BTBD18    KMT2A--CASC5    KMT2A--CASP8AP2    KMT2A--CBL    KMT2A--CEP170B    KMT2A--CREBBP    KMT2A--CT45A2   
    KMT2A--DAB2IP    KMT2A--EEFSEC    KMT2A--ELL    KMT2A--EP300    KMT2A--EPS15    KMT2A--FLNA    KMT2A--FOXO3    KMT2A--FOXO4    KMT2A--FRYL    KMT2A--GAS7    KMT2A--GMPS    KMT2A--GPHN    KMT2A--HMGB1    KMT2A--IFT46    KMT2A--KIAA0284   
    KMT2A--KIAA0284_ENST00000414716    KMT2A--KIAA1524    KMT2A--KMT2A    KMT2A--LASP1    KMT2A--LPP    KMT2A--MAML2    KMT2A--MAPRE1    KMT2A--MATR3    KMT2A--ME2    KMT2A--MEF2C    KMT2A--MLL    KMT2A--MLLT1    KMT2A--MLLT10    KMT2A--MLLT11    KMT2A--MLLT3   
    KMT2A--MLLT4    KMT2A--MLLT4_ENST00000392108    KMT2A--MLLT6    KMT2A--MYH11    KMT2A--MYO1F    KMT2A--NCKIPSD    KMT2A--NRIP3    KMT2A--NT5C2    KMT2A--NUP98    KMT2A--OMAPRE1    KMT2A--PDS5A    KMT2A--PICALM    KMT2A--PRRC1    KMT2A--RARA    KMT2A--RFX2   
    KMT2A--RNF10    KMT2A--SARNP    KMT2A--SEPT11    KMT2A--SEPT2    KMT2A--SEPT5    KMT2A--SEPT6    KMT2A--SEPT9    KMT2A--SEPT9_ENST00000427177    KMT2A--SERINC3    KMT2A--SH3GL1    KMT2A--SMAP1    KMT2A--SORBS2    KMT2A--SUGP2    KMT2A--TCF12    KMT2A--TET1   
    KMT2A--TIRAP    KMT2A--TNRC18    KMT2A--TOP3A    KMT2A--UBE4A    KMT2A--USP2    KMT2A--USP25    KMT2A--VAV1    KMT2A--ZFYVE19    LASP1--KMT2A    LPP--KMT2A    MAPRE1--KMT2A    ME2--KMT2A    MLLT1--KMT2A    MLLT3--KMT2A    MRPL40--KMT2A   
    PSOD--KMT2A    PTD--KMT2A    TCF12--KMT2A    TET1--KMT2A    TOP3A--KMT2A   
    Fusion : QuiverKMT2A
    Polymorphisms : SNP and Copy number variants
    NCBI Variation ViewerKMT2A [hg38]
    dbSNP Single Nucleotide Polymorphism (NCBI)KMT2A
    dbVarKMT2A
    ClinVarKMT2A
    1000_GenomesKMT2A 
    Exome Variant ServerKMT2A
    ExAC (Exome Aggregation Consortium)ENSG00000118058
    GNOMAD BrowserENSG00000118058
    Varsome BrowserKMT2A
    Genetic variants : HAPMAP4297
    Genomic Variants (DGV)KMT2A [DGVbeta]
    DECIPHERKMT2A [patients]   [syndromes]   [variants]   [genes]  
    CONAN: Copy Number AnalysisKMT2A 
    Mutations
    ICGC Data PortalKMT2A 
    TCGA Data PortalKMT2A 
    Broad Tumor PortalKMT2A
    OASIS PortalKMT2A [ Somatic mutations - Copy number]
    Somatic Mutations in Cancer : COSMICKMT2A  [overview]  [genome browser]  [tissue]  [distribution]  
    Somatic Mutations in Cancer : COSMIC3DKMT2A
    Mutations and Diseases : HGMDKMT2A
    intOGen PortalMLL
    LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
    BioMutasearch KMT2A
    DgiDB (Drug Gene Interaction Database)KMT2A
    DoCM (Curated mutations)KMT2A (select the gene name)
    CIViC (Clinical Interpretations of Variants in Cancer)KMT2A (select a term)
    intoGenKMT2A
    NCG5 (London)KMT2A
    Cancer3DKMT2A(select the gene name)
    Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM159555    605130   
    Orphanet21621    22870    13854    13852    13853    13848    14433   
    DisGeNETKMT2A
    MedgenKMT2A
    Genetic Testing Registry KMT2A
    NextProtQ03164 [Medical]
    TSGene4297
    GENETestsKMT2A
    Target ValidationKMT2A
    Huge Navigator KMT2A [HugePedia]
    snp3D : Map Gene to Disease4297
    BioCentury BCIQKMT2A
    ClinGenKMT2A
    Clinical trials, drugs, therapy
    Chemical/Protein Interactions : CTD4297
    Chemical/Pharm GKB GenePA241
    Clinical trialKMT2A
    Miscellaneous
    canSAR (ICR)KMT2A (select the gene name)
    DataMed IndexKMT2A
    Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=KMT2A
    Probes
    Litterature
    PubMed499 Pubmed reference(s) in Entrez
    GeneRIFsGene References Into Functions (Entrez)
    CoreMineKMT2A
    EVEXKMT2A
    GoPubMedKMT2A
    iHOPKMT2A
    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 : Mon Aug 26 19:10:52 CEST 2019

    Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us

    jlhuret@AtlasGeneticsOncology.org.