KMT2A (myeloid/lymphoid or mixed lineage leukemia)

Written	1997-12	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated	2000-12	Jay L Hess, Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated	2002-11	Rolf Marschalek
		Instituts für Pharmazeutische Biologie, JWG Universitaet Frankfurt/Main, Biozentrum, N230, 303, Marie Curie Str. 9, D-60439 Frankfurt/Main, Germany
Updated	2005-10	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

1. Identity

Alias_names	General Information
	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 alias	MLL (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)

2. 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

3. 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)

4. 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

5. 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
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)

6. 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)

7. 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

8. 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

9. 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 : https://atlasgeneticsoncology.usal.es/classic/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

10. Other Leukemias implicated (Data extracted from papers in the Atlas) [ 155 ]

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

del(11)(q23q23) KMT2A/FOXR1
t(6;11)(q21;q23) KMT2A/FYN
t(11;11)(q12;q23) KMT2A/SLC22A10
t(11;16)(q23;q24) KMT2A/ZDHHC7

11. External links

	Nomenclature
HGNC (Hugo)	KMT2A 7132
LRG (Locus Reference Genomic)	LRG_613
	Cards
Atlas	MLLID13
Entrez_Gene (NCBI)	KMT2A 4297 lysine methyltransferase 2A
Aliases	ALL-1; CXXC7; HRX; HTRX1;
	MLL; MLL1; MLL1A; TRX1; WDSTS
GeneCards (Weizmann)	KMT2A
Ensembl hg19 (Hinxton)	ENSG00000118058 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000118058 [Gene_View] &nbspENSG00000118058 [Sequence] chr11:118436490-118526824 [Contig_View] KMT2A [Vega]
ICGC DataPortal	ENSG00000118058
TCGA cBioPortal	KMT2A
AceView (NCBI)	KMT2A
Genatlas (Paris)	KMT2A
WikiGenes	4297
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)
Ensembl	KMT2A - 11q23.3 [CytoView hg19] KMT2A - 11q23.3 [CytoView hg38]
Mapping of homologs : NCBI	KMT2A [Mapview hg19] KMT2A [Mapview hg38]
OMIM	159555 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 : Unigene	Hs.258855 [ NCBI ]
CGAP (NCI)	Hs.258855
Alternative Splicing Gallery	ENSG00000118058
Gene Expression	KMT2A [ NCBI-GEO ] KMT2A [ EBI - ARRAY_EXPRESS ] KMT2A [ SEEK ] KMT2A [ MEM ]
Gene Expression Viewer (FireBrowse)	KMT2A [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
Genevestigator	Expression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)	4297
GTEX Portal (Tissue expression)	KMT2A
Human Protein Atlas	ENSG00000118058-KMT2A [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q03164 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	Q03164 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q03164
Splice isoforms : SwissVar	Q03164
PhosPhoSitePlus	Q03164
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 mutations	4297
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 Europe	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 (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 KnowledgeBase	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
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
Superfamily	Q03164
Human Protein Atlas [tissue]	ENSG00000118058-KMT2A [tissue]
Peptide Atlas	Q03164
HPRD	01162
IPI	IPI00009286 IPI00218500 IPI00982112 IPI00387009 IPI00984625 IPI00384732 IPI00384738 IPI01008791 IPI00387010 IPI00387011 IPI00387012 IPI00387013 IPI01026346 IPI00984052 IPI00980012
	Protein Interaction databases
DIP (DOE-UCLA)	Q03164
IntAct (EBI)	Q03164
FunCoup	ENSG00000118058
BioGRID	KMT2A
STRING (EMBL)	KMT2A
ZODIAC	KMT2A
	Ontologies - Pathways
QuickGO	Q03164
Ontology : AmiGO	RNA 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 histone-lysine N-methyltransferase activity positive regulation of transporter activity circadian regulation of gene expression histone methyltransferase complex embryonic hemopoiesis 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 by RNA polymerase II positive regulation of transcription by RNA polymerase II 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-EBI	RNA 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 histone-lysine N-methyltransferase activity positive regulation of transporter activity circadian regulation of gene expression histone methyltransferase complex embryonic hemopoiesis 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 by RNA polymerase II positive regulation of transcription by RNA polymerase II 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 : KEGG	Lysine degradation Transcriptional misregulation in cancer
REACTOME	Q03164 [protein]
REACTOME Pathways	R-HSA-8939236 [pathway]
NDEx Network	KMT2A
Atlas of Cancer Signalling Network	KMT2A
Wikipedia pathways	KMT2A
	Orthology - Evolution
OrthoDB	4297
GeneTree (enSembl)	ENSG00000118058
Phylogenetic Trees/Animal Genes : TreeFam	KMT2A
HOGENOM	Q03164
Homologs : HomoloGene	KMT2A
Homology/Alignments : Family Browser (UCSC)	KMT2A
	Gene fusions - Rearrangements
Fusion : Mitelman	ARHGAP18/KMT2A [6q22.33/11q23.3] &nbsp[t(6;6)(q22;q22)]
Fusion : Mitelman	KMT2A/ATAD2 [11q23.3/8q24.13] &nbsp[t(8;8)(q24;q24)]
Fusion : Mitelman	KMT2A/NKAIN3 [11q23.3/8q12.3] &nbsp[t(8;8)(q12;q24)]
Fusion : Mitelman	KMT2A/ROS1 [11q23.3/6q22.1] &nbsp[t(6;6)(q22;q22)]
Fusion : Mitelman	KMT2A/SYTL3 [11q23.3/6q25.3] &nbsp[t(6;6)(q22;q25)]
Fusion : COSMIC	ABI1 [KMT2A] - 1868 []
Fusion : COSMIC	ACTN4 [KMT2A] - 2027 [2028]
Fusion : COSMIC	AFF1 [KMT2A] - 1831 [1832] [fusion_2075] [fusion_2076]
Fusion : COSMIC	BTBD18 [KMT2A] - 2056 []
Fusion : COSMIC	CREBBP [KMT2A] - 1877 [1878] [fusion_2094] [fusion_2111] [fusion_2112] [fusion_2113] [fusion_2114] [fusion_2115]
Fusion : COSMIC	DAB2IP [KMT2A] - 1855 []
Fusion : COSMIC	EPS15 [KMT2A] - 2000 [2001] [fusion_2005] [fusion_2006]
Fusion : COSMIC	FRYL [KMT2A] - 1969 []
Fusion : COSMIC	GAS7 [KMT2A] - 1894 []
Fusion : COSMIC	KMT2A [ABI1] - 1864 [1865] [fusion_1866] [fusion_1867]
Fusion : COSMIC	KMT2A [ABI2] - 1835 [1836] [fusion_1837] [fusion_1838]
Fusion : COSMIC	KMT2A [ACTN4] - 2025 [2026] [fusion_2029]
Fusion : COSMIC	KMT2A [AFF1] - 1799 [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 : COSMIC	KMT2A [AFF3] - 1784 [1785] [fusion_1816] [fusion_2030] [fusion_2031] [fusion_2032]
Fusion : COSMIC	KMT2A [AFF4] - 1797 [1798] [fusion_1815] [fusion_1824] [fusion_1825]
Fusion : COSMIC	KMT2A [ARHGAP26] - 1936 [1937] [fusion_1938] [fusion_1939]
Fusion : COSMIC	KMT2A [ARHGEF12] - 1846 [1847]
Fusion : COSMIC	KMT2A [BTBD18] - 2054 [2055]
Fusion : COSMIC	KMT2A [CASC5] - 1869 [1870] [fusion_1871] [fusion_1879] [fusion_1880] [fusion_1881] [fusion_1943]
Fusion : COSMIC	KMT2A [CASP8AP2] - 2058 []
Fusion : COSMIC	KMT2A [CBL] - 1970 [1971]
Fusion : COSMIC	KMT2A [CREBBP] - 1874 [1875] [fusion_1876] [fusion_2093] [fusion_2095] [fusion_2097] [fusion_2098] [fusion_2109] [fusion_2110]
	[fusion_2116] [fusion_2117]
Fusion : COSMIC	KMT2A [CT45A2] - 2070 [2071] [fusion_2072]
Fusion : COSMIC	KMT2A [DAB2IP] - 1853 [1854]
Fusion : COSMIC	KMT2A [EEFSEC] - 2064 []
Fusion : COSMIC	KMT2A [ELL] - 1988 [1989] [fusion_1990] [fusion_1991] [fusion_1992] [fusion_1993] [fusion_1994] [fusion_1995] [fusion_1996]
	[fusion_1997]
Fusion : COSMIC	KMT2A [EP300] - 1906 [1907] [fusion_1908] [fusion_1909] [fusion_1910] [fusion_1911] [fusion_1912] [fusion_1913]
Fusion : COSMIC	KMT2A [EPS15] - 1998 [1999] [fusion_2002] [fusion_2003] [fusion_2004] [fusion_2007] [fusion_2008]
Fusion : COSMIC	KMT2A [FOXO3] - 1795 [1796] [fusion_1813] [fusion_1814]
Fusion : COSMIC	KMT2A [FOXO4] - 1976 []
Fusion : COSMIC	KMT2A [FRYL] - 1968 []
Fusion : COSMIC	KMT2A [GAS7] - 1890 [1891] [fusion_1892] [fusion_1893]
Fusion : COSMIC	KMT2A [GMPS] - 1841 []
Fusion : COSMIC	KMT2A [GPHN] - 1850 [1851] [fusion_1852]
Fusion : COSMIC	KMT2A [KIAA0284] - 2059 [2060] [fusion_2061] [fusion_2062]
Fusion : COSMIC	KMT2A [KIAA1524] - 1833 [1834]
Fusion : COSMIC	KMT2A [LASP1] - 1886 [1887]
Fusion : COSMIC	KMT2A [LPP] - 1817 [1818]
Fusion : COSMIC	KMT2A [MAPRE1] - 1902 []
Fusion : COSMIC	KMT2A [MLLT1] - 1786 [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 : COSMIC	KMT2A [MLLT10] - 2033 [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 : COSMIC	KMT2A [MLLT11] - 1965 [1977] [fusion_1979] [fusion_1980] [fusion_1981] [fusion_1982]
Fusion : COSMIC	KMT2A [MLLT3] - 1856 [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 : COSMIC	KMT2A [MLLT4] - 1806 [1807] [fusion_1808] [fusion_1810] [fusion_1811] [fusion_1812] [fusion_1826] [fusion_2009] [fusion_2010]
	[fusion_2012] [fusion_2013] [fusion_2014]
Fusion : COSMIC	KMT2A [MLLT6] - 1882 [1883] [fusion_1941] [fusion_1942]
Fusion : COSMIC	KMT2A [MYO1F] - 1884 [1885]
Fusion : COSMIC	KMT2A [NCKIPSD] - 1944 [1946]
Fusion : COSMIC	KMT2A [NRIP3] - 2053 []
Fusion : COSMIC	KMT2A [PDS5A] - 1842 [1843]
Fusion : COSMIC	KMT2A [PICALM] - 1966 [1967]
Fusion : COSMIC	KMT2A [PRRC1] - 2063 []
Fusion : COSMIC	KMT2A [SARNP] - 1848 [1849]
Fusion : COSMIC	KMT2A [SEPT2] - 1972 [1973] [fusion_1974] [fusion_1975]
Fusion : COSMIC	KMT2A [SEPT5] - 1844 [1845]
Fusion : COSMIC	KMT2A [SEPT6] - 1916 [1917] [fusion_1918] [fusion_1919] [fusion_1922] [fusion_1923] [fusion_1924] [fusion_1925] [fusion_1926]
	[fusion_2069]
Fusion : COSMIC	KMT2A [SEPT9] - 1927 [1928] [fusion_1929] [fusion_1930] [fusion_1931] [fusion_1932] [fusion_1933] [fusion_1934] [fusion_1935]
	[fusion_2065]
Fusion : COSMIC	KMT2A [SH3GL1] - 1914 [1915]
Fusion : COSMIC	KMT2A [SORBS2] - 1839 [1840]
Fusion : COSMIC	KMT2A [TET1] - 1898 [1899] [fusion_1900] [fusion_2118]
Fusion : COSMIC	KMT2A [TOP3A] - 1895 [1896]
Fusion : COSMIC	KMT2A [ZFYVE19] - 1872 [1873]
Fusion : COSMIC	LASP1 [KMT2A] - 1888 [1889]
Fusion : COSMIC	LPP [KMT2A] - 1820 [1821]
Fusion : COSMIC	MAPRE1 [KMT2A] - 1903 [1904]
Fusion : COSMIC	MLLT1 [KMT2A] - 2079 [2080]
Fusion : COSMIC	MLLT3 [KMT2A] - 1984 []
Fusion : COSMIC	TET1 [KMT2A] - 1901 []
Fusion : COSMIC	TOP3A [KMT2A] - 1897 []
Fusion : TICdb	CDK6 [7q21.2] - KMT2A [11q23.3]
Fusion : TICdb	KMT2A [11q23.3] - ABI1 [10p12.1]
Fusion : TICdb	KMT2A [11q23.3] - ABI2 [2q33.2]
Fusion : TICdb	KMT2A [11q23.3] - ACACA [17q12]
Fusion : TICdb	KMT2A [11q23.3] - AFF1 [4q21.3]
Fusion : TICdb	KMT2A [11q23.3] - AFF3 [2q11.2]
Fusion : TICdb	KMT2A [11q23.3] - AFF4 [5q31.1]
Fusion : TICdb	KMT2A [11q23.3] - ARHGAP26 [5q31.3]
Fusion : TICdb	KMT2A [11q23.3] - ARHGEF12 [11q23.3]
Fusion : TICdb	KMT2A [11q23.3] - CASC5 [15q15.1]
Fusion : TICdb	KMT2A [11q23.3] - CASP8AP2 [6q15]
Fusion : TICdb	KMT2A [11q23.3] - CBL [11q23.3]
Fusion : TICdb	KMT2A [11q23.3] - CEP170B [14q32.33]
Fusion : TICdb	KMT2A [11q23.3] - CREBBP [16p13.3]
Fusion : TICdb	KMT2A [11q23.3] - DAB2IP [9q33.2]
Fusion : TICdb	KMT2A [11q23.3] - EEFSEC [3q21.3]
Fusion : TICdb	KMT2A [11q23.3] - ELL [19p13.11]
Fusion : TICdb	KMT2A [11q23.3] - EP300 [22q13.2]
Fusion : TICdb	KMT2A [11q23.3] - EPS15 [1p32.3]
Fusion : TICdb	KMT2A [11q23.3] - FLNA [Xq28]
Fusion : TICdb	KMT2A [11q23.3] - FOXO3 [6q21]
Fusion : TICdb	KMT2A [11q23.3] - GAS7 [17p13.1]
Fusion : TICdb	KMT2A [11q23.3] - GMPS [3q25.31]
Fusion : TICdb	KMT2A [11q23.3] - GPHN [14q23.3]
Fusion : TICdb	KMT2A [11q23.3] - KIAA1524 [3q13.13]
Fusion : TICdb	KMT2A [11q23.3] - LASP1 [17q12]
Fusion : TICdb	KMT2A [11q23.3] - LPP [3q28]
Fusion : TICdb	KMT2A [11q23.3] - MAML2 [11q21]
Fusion : TICdb	KMT2A [11q23.3] - MAPRE1 [20q11.21]
Fusion : TICdb	KMT2A [11q23.3] - MLLT1 [19p13.3]
Fusion : TICdb	KMT2A [11q23.3] - MLLT10 [10p12.31]
Fusion : TICdb	KMT2A [11q23.3] - MLLT11 [1q21.3]
Fusion : TICdb	KMT2A [11q23.3] - MLLT3 [9p21.3]
Fusion : TICdb	KMT2A [11q23.3] - MLLT4 [6q27]
Fusion : TICdb	KMT2A [11q23.3] - MLLT6 [17q12]
Fusion : TICdb	KMT2A [11q23.3] - MYO1F [19p13.2]
Fusion : TICdb	KMT2A [11q23.3] - NCKIPSD [3p21.31]
Fusion : TICdb	KMT2A [11q23.3] - NEBL [10p12.31]
Fusion : TICdb	KMT2A [11q23.3] - PDS5A [4p14]
Fusion : TICdb	KMT2A [11q23.3] - PICALM [11q14.2]
Fusion : TICdb	KMT2A [11q23.3] - SACM1L [3p21.31]
Fusion : TICdb	KMT2A [11q23.3] - SEPT11 [4q21.1]
Fusion : TICdb	KMT2A [11q23.3] - SEPT2 [2q37.3]
Fusion : TICdb	KMT2A [11q23.3] - SEPT5 [22q11.21]
Fusion : TICdb	KMT2A [11q23.3] - SEPT6 [Xq24]
Fusion : TICdb	KMT2A [11q23.3] - SEPT9 [17q25.2]
Fusion : TICdb	KMT2A [11q23.3] - SH3GL1 [19p13.3]
Fusion : TICdb	KMT2A [11q23.3] - SORBS2 [4q35.1]
Fusion : TICdb	KMT2A [11q23.3] - TET1 [10q21.3]
Fusion : TICdb	KMT2A [11q23.3] - ZFYVE19 [15q15.1]
Fusion : TICdb	NUP98 [11p15.4] - KMT2A [11q23.3]
Fusion : Quiver	KMT2A
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	KMT2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	KMT2A
dbVar	KMT2A
ClinVar	KMT2A
1000_Genomes	KMT2A
Exome Variant Server	KMT2A
ExAC (Exome Aggregation Consortium)	ENSG00000118058
GNOMAD Browser	ENSG00000118058
Varsome Browser	KMT2A
Genetic variants : HAPMAP	4297
Genomic Variants (DGV)	KMT2A [DGVbeta]
DECIPHER	KMT2A [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	KMT2A
	Mutations
ICGC Data Portal	KMT2A
TCGA Data Portal	KMT2A
Broad Tumor Portal	KMT2A
OASIS Portal	KMT2A [ Somatic mutations - Copy number]
Cancer Gene: Census	KMT2A
Somatic Mutations in Cancer : COSMIC	KMT2A [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	KMT2A
intOGen Portal	MLL
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
BioMuta	search 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)
intoGen	KMT2A
NCG5 (London)	KMT2A
Cancer3D	KMT2A(select the gene name)
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	159555 605130
Orphanet	21621 22870 13854 13852 13853 13848 14433
DisGeNET	KMT2A
Medgen	KMT2A
Genetic Testing Registry	KMT2A
NextProt	Q03164 [Medical]
TSGene	4297
GENETests	KMT2A
Target Validation	KMT2A
Huge Navigator	KMT2A [HugePedia]
snp3D : Map Gene to Disease	4297
BioCentury BCIQ	KMT2A
ClinGen	KMT2A
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	4297
Chemical/Pharm GKB Gene	PA241
Clinical trial	KMT2A
	Miscellaneous
canSAR (ICR)	KMT2A (select the gene name)
DataMed Index	KMT2A
Other database	http://cancergenome.broadinstitute.org/index.php?tgene=KMT2A
	Probes
	Litterature
PubMed	470 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	KMT2A
EVEX	KMT2A
GoPubMed	KMT2A
iHOP	KMT2A

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Thu Jan 17 19:01:26 CET 2019

For comments and suggestions or contributions, please contact us atlasgeneticsoncology@usal.es.