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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
HGNC (Hugo) KMT2A
LocusID (NCBI) 4297
Atlas_Id 13
Location 11q23.3  [Link to chromosome band 11q23]
Location_base_pair Starts at 118307205 and ends at 118397539 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.
Fusion genes
(updated 2016)
ABI1 (10p12.1) / KMT2A (11q23.3)ACER1 (19p13.3) / KMT2A (11q23.3)ACTN4 (19q13.2) / 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)CASC5 (15q15.1) / 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) / AF1Q ()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) / BCL9L (11q23.3)
KMT2A (11q23.3) / BTBD18 (11q12.1)KMT2A (11q23.3) / BUD13 (11q23.3)KMT2A (11q23.3) / C2CD3 (11q13.4)
KMT2A (11q23.3) / CASC5 (15q15.1)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) / 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) / HEAB ()
KMT2A (11q23.3) / HOXA11-AS (7p15.2)KMT2A (11q23.3) / HOXD1 (2q31.1)KMT2A (11q23.3) / KIAA1524 (3q13.13)
KMT2A (11q23.3) / KMT2A (11q23.3)KMT2A (11q23.3) / KMT2AT1 ()KMT2A (11q23.3) / KMT2AT10 ()
KMT2A (11q23.3) / KMT2AT11 ()KMT2A (11q23.3) / KMT2AT3 ()KMT2A (11q23.3) / KMT2AT4 ()
KMT2A (11q23.3) / KMT2AT6 ()KMT2A (11q23.3) / KMT2AT7 ()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) / ME2 (18q21.2)
KMT2A (11q23.3) / MLLT1 (19p13.3)KMT2A (11q23.3) / MLLT10 (10p12.31)KMT2A (11q23.3) / MLLT11 (1q21.3)
KMT2A (11q23.3) / MLLT2 ()KMT2A (11q23.3) / MLLT3 (9p21.3)KMT2A (11q23.3) / MLLT4 (6q27)
KMT2A (11q23.3) / MLLT6 (17q12)KMT2A (11q23.3) / MLLT7 ()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) / PNUTL1 ()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 (17q25.2)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) / SSH3BP1 ()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)KMT2A (11q23.3) / SEPT9 ()
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)MLLT4 (6q27) / 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)SEPT6 (Xq24) / 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 --> MLL-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 -->MLL- MLLT4 (AF6)
Disease M5/M4 de novo and therapy related AML, T-cell ALL
Prognosis poor
  
Entity t(9;11) (p22;q23)/AML -->MLL-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 --> MLL- MLLT10 (AF10)
Disease M4 or M5 AML; ALL at times; therapy related AML
Prognosis poor
  
Entity t(11;19)(q23;p13.1) /AML --> MLL-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 --> MLL-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:
  • t(X;11)(q13;q23)/AML, T-ALL --> MLL - AFX1
  • t(X;11)(q22;q23)/AML --> MLL- Septin2
  • t(1;11)(p32;q23)/ALL --> MLL- EB15 (AF1p)
  • t(1;11)(q21;q23)/AML --> MLL- MLLT11 (AF1q)
  • t(2;11)(q11;q23)/ALL --> MLL- AFF3 (LAF4)
  • t(3;11)(p21;q23)/t-AML, ALL--> MLL- NCKIPSD (AF3p21)
  • t(3;11)(q21;q23)/ALL --> MLL- EEFSEC (SELB)
  • t(3;11)(q25;q23)/t-AML --> MLL - GMPS
  • t(3;11)(q28;q23)/AML --> MLL - LPP
  • t(4;11)(p12;q23) --> MLL - AF4p12
  • t(4;11)(q12;q23) --> MLL - MIFL
  • t(4;11)(q21;q23)/atypical CML --> MLL - SEPT11
  • t(4;11)(q35;q23)--> MLL - ArgBP2
  • t(5;11)(q31;q23)/AML, ALL --> MLL - ARHGAP26 (GRAF)
  • ins(5;11)(q31;q13q23)/ALL --> MLL - AFF4 (AF5q31)
  • t(6;11)(q12;q23)/AML --> MLL - SMAP1
  • t(6;11)(q21;q23)/AML --> MLL - FOXO3A (AF6q21)
  • t(9;11)(q34;q23)/AML --> MLL - DAB2IP (AF9q34)
  • t(10;11)(p11;q23)/AML --> MLL - ABI1
  • t(10;11)(q21;q23)/AML --> MLL - CXXC6 (TET1)
  • t(11;11)(q21;q23)/AML --> MLL - PICALM
  • trisomy 11/AML --> MLL tandem duplication
  • t(11;11)(q23;q23)/AML --> MLL - CBL
  • t(11;11)(q23;q23)/AML --> MLL - ARHGEF12 (LARG)
  • t(11;11)(q23;q24)/AML --> MLL - TIRAP
  • t(11;12)(q23;q13)/AML --> MLL - CIP29
  • t(11;14)(q23;q24)/AML, AUL --> MLL - GPHN
  • t(11;15)(q23;q14)/AML, ALL --> MLL - CASC5 (AF15q14)
  • t(11;15)(q23;q14) --> MLL - MPFYVE
  • t(11;15)(q23;q15) --> MLL - AF15
  • t(11;16)(q23;p13)/MDS, AML, t-AML, ALL --> MLL - CREBBP (CBP)
  • t(11;17)(q23;p13)/t-AML --> MLL - GAS7
  • t(11;17)(q23;q21)/AML --> MLL - ACACA
  • t(11;17)(q23;q21)/AML --> MLL - LASP1
  • t(11;17)(q23;q21)/ AML --> MLL - MLLT6 (AF17)
  • t(11;17)(q23;q21)/AML --> MLL - RARa
  • t(11;17)(q23;q25)/ MDS, AML --> MLL - SEPT9 (MSF1, AF17q25)
  • t(11;19)(q23;p13)/AML --> MLL - SH3GLI1 (EEN)
  • t(11;19)(q23;p13)/AML --> MLL - MYO1F
  • t(11;20)(q23;q11)/ALL --> MLL - MAPRE1 (EB1)
  • t(11;22)(q23;q11.2)/AML --> MLL - SEPT5 (hCDCRel)
  • t(11;22)(q23;q13) /AML --> MLL - 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) [ 77 ]
      11q23 rearrangements (KMT2A) in childhood acute lymphoblastic leukemia
    11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
    11q23 rearrangements (KMT2A) in leukaemia
    11q23 rearrangements (KMT2A) in therapy related leukaemias
    Classification of myelodysplasic syndromes 1999
    del(11)(q23q23) KMT2A/CBL::t(11;11)(q23;q23) KMT2A/CBL
    del(11)(q23q23) KMT2A/ARHGEF12
    del(9p) in Acute Lymphoblastic Leukemia
    Infant leukaemias::Congenital leukaemias::Neonatal leukaemias
    ins(5;11)(q31;q13q23) KMT2A/AFF4
    inv(11)(q13q23) KMT2A/BTBD18
    inv(11)(q21q23) KMT2A/MAML2 in therapy related leukemias
    MLL amplification in leukemia
    t(1;3)(p36;q21) PSMD2/PRDM16 ???
    t(1;11)(p32;q23) KMT2A/EPS15
    der(11)t(1;11)(q11-23;q14-25)
    t(2;8)(p23;p11) KAT6A/ASXL2
    t(2;11)(p21;q23) KMT2A/?
    t(2;11)(q11;q23) KMT2A/AFF3
    t(2;11)(q33;q23) KMT2A/ABI2
    t(2;11)(q37;q23) KMT2A/SEPT2
    t(3;4)(p21;q34)
    t(3;11)(p21;q23) KMT2A/NCKIPSD
    t(3;11)(q21;q23) KMT2A/EEFSEC
    t(3;11)(q28;q23) KMT2A/LPP
    t(3;21)(q26;q22) RUNX1/MECOM
    t(4;11)(q21;q23) KMT2A/AFF1
    t(4;11)(p12;q23) KMT2A/FRYL
    t(4;11)(q23;p15) NUP98/RAP1GDS1
    t(4;11)(q35;q23) KMT2A/SORBS2
    t(5;11)(q31;q23) KMT2A/ARHGAP26
    t(5;14)(q35;q11) TRD/NKX2-5
    t(6;11)(q27;q23) KMT2A/MLLT4
    t(6;11)(q13;q23) KMT2A/SMAP1
    t(6;11)(q15;q23) KMT2A/?
    t(6;11)(q21;q23) KMT2A/FOXO3
    t(6;21)(p22;q22) RUNX1-?
    inv(7)(p15q34) TRB/HOXA10::t(7;7)(p15;q34) TRB/HOXA10
    t(9;11)(q34;q23) FNBP1/KMT2A
    t(9;11)(p21;q23) KMT2A/MLLT3
    t(9;11)(q34;q23) KMT2A/DAB2IP
    t(X;11)(q13;q23) KMT2A/FOXO4
    t(X;11)(q22;q23) KMT2A/?
    t(X;11)(q24;q23) KMT2A/SEPT6
    t(X;11)(q26;q23)::ins(X;11)(q26;q23q23)
    t(10;11)(p12;q23) KMT2A/MLLT10
    t(10;11)(p11.2;q23) KMT2A/ABI1
    t(10;11)(p12;q23) KMT2A/NEBL
    t(10;11)(q22;q23) KMT2A/TET1
    t(10;16)(q22;p13) KAT6B/CREBBP
    t(11;11)(q13;q23) KMT2A/ARHGEF17
    t(11;12)(q23;q13) KMT2A/SARNP
    t(11;14)(q23;q24) KMT2A/GPHN
    t(11;14)(q23;q32) KMT2A/CEP170B
    t(11;15)(q23;q14) KMT2A/CASC5
    t(11;15)(q23;q14) KMT2A/ZFYVE19
    t(11;16)(q23;p13.3) KMT2A/CREBBP
    t(11;17)(q23;q25) KMT2A/SEPT9
    t(11;17)(q23;p13) KMT2A/GAS7
    t(11;17)(q23;q12) KMT2A/RARA
    t(11;17)(q23;q12-21) KMT2A/MMLT6
    t(11;17)(q23;q12-21) KMT2A/LASP1
    t(11;19)(q23;p13.1) KMT2A/ELL
    t(11;19)(q23;p13.3) KMT2A/MLLT1
    t(11;19)(q23;p13) KMT2A/SH3GL1
    t(11;19)(q23;p13.3) KMT2A/ACER1
    t(1;11)(q21;q23) KMT2A/MLLT11
    t(11;20)(q23;q11) KMT2A/MAPRE1
    t(11;22)(q23;q11.2) KMT2A/SEPT5
    t(11;22)(q23;q13) KMT2A/EP300
    t(3;11)(q25;q23) KMT2A/GMPS
    t(3;11)(q13.13;q23) KMT2A/KIAA1524
    T-lineage acute lymphoblastic leukemia (T-ALL)
    Isolated tetrasomy 8 in AML, MDS and MPD
    +11 or trisomy 11 (solely) KMT2A
    +20 or trisomy 20 (solely)
    1q translocations (unbalanced) in myeloid malignancies


    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; MLL-AF9; MLL/GAS7; MLL1; MLL1A; TET1-MLL; TRX1; WDSTS
    GeneCards (Weizmann)KMT2A
    Ensembl hg19 (Hinxton)ENSG00000118058 [Gene_View]  chr11:118307205-118397539 [Contig_View]  KMT2A [Vega]
    Ensembl hg38 (Hinxton)ENSG00000118058 [Gene_View]  chr11:118307205-118397539 [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 hg19 (UCSC)KMT2A  -     chr11:118307205-118397539 +  11q23   [Description]    (hg19-Feb_2009)
    GoldenPath hg38 (UCSC)KMT2A  -     11q23   [Description]    (hg38-Dec_2013)
    EnsemblKMT2A - 11q23 [CytoView hg19]  KMT2A - 11q23 [CytoView hg38]
    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)NC_000011 NC_018922 NG_027813 NT_033899 NW_004929381
    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]
    GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
    BioGPS (Tissue expression)4297
    GTEX Portal (Tissue expression)KMT2A
    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
    Catalytic activity : Enzyme2.1.1.43 [ Enzyme-Expasy ]   2.1.1.432.1.1.43 [ IntEnz-EBI ]   2.1.1.43 [ BRENDA ]   2.1.1.43 [ KEGG ]   
    PhosPhoSitePlusQ03164
    Domaine pattern : Prosite (Expaxy)BROMODOMAIN_2 (PS50014)    FYRC (PS51543)    FYRN (PS51542)    POST_SET (PS50868)    SET (PS50280)    ZF_CXXC (PS51058)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
    Domains : Interpro (EBI)AT_hook_DNA-bd_motif    Bromodomain    FYrich_C    FYrich_N    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)AT_hook (SM00384)  BROMO (SM00297)  FYRC (SM00542)  FYRN (SM00541)  PHD (SM00249)  PostSET (SM00508)  SET (SM00317)  
    Conserved Domain (NCBI)KMT2A
    DMDM Disease mutations4297
    Blocks (Seattle)KMT2A
    PDB (SRS)2AGH    2J2S    2JYI    2KKF    2KU7    2KYU    2LXS    2LXT    2MSR    2MTN    2W5Y    2W5Z    3EG6    3EMH    3LQH    3LQI    3LQJ    3P4F    3U85    3U88    4ESG    4GQ6    4NW3   
    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   
    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   
    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   
    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   
    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   
    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   
    SuperfamilyQ03164
    Human Protein AtlasENSG00000118058
    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 : AmiGOcore promoter sequence-specific DNA binding  AT DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA methylation  transcription from RNA polymerase II promoter  protein complex assembly  apoptotic process  zinc ion binding  negative regulation of cell proliferation  visual learning  post-embryonic development  anterior/posterior pattern specification  histone-lysine N-methyltransferase activity  peptidyl-lysine monomethylation  positive regulation of transporter activity  circadian regulation of gene expression  histone methyltransferase complex  embryonic hemopoiesis  exploration behavior  response to potassium ion  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  histone H3-K4 dimethylation  unmethylated CpG binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  regulation of short-term neuronal synaptic plasticity  spleen development  homeostasis of number of cells within a tissue  histone H3-K4 methylation  histone H3-K4 methylation  positive regulation of histone H3-K4 methylation  membrane depolarization  definitive hemopoiesis  lysine-acetylated histone binding  MLL1 complex  regulation of histone H3-K14 acetylation  histone H3-K4 trimethylation  regulation of histone H3-K27 acetylation  regulation of histone H3-K9 acetylation  positive regulation of cellular response to drug  
    Ontology : EGO-EBIcore promoter sequence-specific DNA binding  AT DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA methylation  transcription from RNA polymerase II promoter  protein complex assembly  apoptotic process  zinc ion binding  negative regulation of cell proliferation  visual learning  post-embryonic development  anterior/posterior pattern specification  histone-lysine N-methyltransferase activity  peptidyl-lysine monomethylation  positive regulation of transporter activity  circadian regulation of gene expression  histone methyltransferase complex  embryonic hemopoiesis  exploration behavior  response to potassium ion  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  histone H3-K4 dimethylation  unmethylated CpG binding  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  regulation of short-term neuronal synaptic plasticity  spleen development  homeostasis of number of cells within a tissue  histone H3-K4 methylation  histone H3-K4 methylation  positive regulation of histone H3-K4 methylation  membrane depolarization  definitive hemopoiesis  lysine-acetylated histone binding  MLL1 complex  regulation of histone H3-K14 acetylation  histone H3-K4 trimethylation  regulation of histone H3-K27 acetylation  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-3214841 PKMTs methylate histone lysines [pathway]
    NDEx NetworkKMT2A
    Atlas of Cancer Signalling NetworkKMT2A
    Wikipedia pathwaysKMT2A
    Orthology - Evolution
    OrthoDB4297
    GeneTree (enSembl)ENSG00000118058
    Phylogenetic Trees/Animal Genes : TreeFamKMT2A
    HOVERGENQ03164
    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 [3q13.13]  [fusion_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 [2q37.3]  [fusion_1972]  [fusion_1973]  [fusion_1974]  [fusion_1975]  
    Fusion : COSMICKMT2A [11q23.3]  -  SEPT5 [22q11.21]  [fusion_1844]  [fusion_1845]  
    Fusion : COSMICKMT2A [11q23.3]  -  SEPT6 [Xq24]  [fusion_1916]  [fusion_1917]  [fusion_1918]  [fusion_1919]  [fusion_1922]  [fusion_1923]  [fusion_1924]  
    [fusion_1925]  [fusion_1926]  [fusion_2069]  
    Fusion : COSMICKMT2A [11q23.3]  -  SEPT9 [17q25.2]  [fusion_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]
    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)KMT2A (select the gene name)
    Genetic variants : HAPMAP4297
    Genomic Variants (DGV)KMT2A [DGVbeta]
    DECIPHER (Syndromes)11:118307205-118397539  ENSG00000118058
    CONAN: Copy Number AnalysisKMT2A 
    Mutations
    ICGC Data PortalKMT2A 
    TCGA Data PortalKMT2A 
    Broad Tumor PortalKMT2A
    OASIS PortalKMT2A [ Somatic mutations - Copy number]
    Cancer Gene: CensusKMT2A 
    Somatic Mutations in Cancer : COSMICKMT2A  [overview]  [genome browser]  [tissue]  [distribution]  
    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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
    Diseases
    OMIM159555    605130   
    Orphanet21621    22870    13854    13852    13853    13848    14433   
    MedgenKMT2A
    Genetic Testing Registry KMT2A
    NextProtQ03164 [Medical]
    TSGene4297
    GENETestsKMT2A
    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)
    Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=KMT2A
    Probes
    Litterature
    PubMed394 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

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