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Entry
N00119                      Network                                

Name
MLL-AF4 fusion to transcriptional activation
Definition
MLL-AF4 -- ((CDK9,CCNT)+(MLLT1,MLLT3)+DOT1L) => (LMO2,PBX3,RUNX2,SMAD1,KLF3,MEF2C,HOXA9,HOXA10,JMJD1C,HMGA2,KDM6A,SUPT3H,PROM1,FLT3,BMP2K,IGF1R,CDKN1B,CDK14)
  Expanded
(4297v1,4299v1) -- ((1025,904,905)+(4298,4300)+84444) => (4005,5090,860,4086,51274,4208,3205,3206,221037,8091,7403,8464,8842,2322,55589,3480,1027,5218)
Class
nt06240 Transcription
Type
Variant
Pathway
hsa05202  Transcriptional misregulation in cancer
Disease
H00001  B-cell acute lymphoblastic leukemia
Gene
4297  KMT2A; lysine methyltransferase 2A
4299  AFF1; AF4/FMR2 family member 1
1025  CDK9; cyclin dependent kinase 9
904  CCNT1; cyclin T1
905  CCNT2; cyclin T2
4298  MLLT1; MLLT1, super elongation complex subunit
4300  MLLT3; MLLT3, super elongation complex subunit
84444  DOT1L; DOT1 like histone lysine methyltransferase
4005  LMO2; LIM domain only 2
5090  PBX3; PBX homeobox 3
860  RUNX2; runt related transcription factor 2
4086  SMAD1; SMAD family member 1
51274  KLF3; Kruppel like factor 3
4208  MEF2C; myocyte enhancer factor 2C
3205  HOXA9; homeobox A9
3206  HOXA10; homeobox A10
221037  JMJD1C; jumonji domain containing 1C
8091  HMGA2; high mobility group AT-hook 2
7403  KDM6A; lysine demethylase 6A
8464  SUPT3H; SPT3 homolog, SAGA and STAGA complex component
8842  PROM1; prominin 1
2322  FLT3; fms related tyrosine kinase 3
55589  BMP2K; BMP2 inducible kinase
3480  IGF1R; insulin like growth factor 1 receptor
1027  CDKN1B; cyclin dependent kinase inhibitor 1B
5218  CDK14; cyclin dependent kinase 14
Variant
4297v1  MLL-AF4 fusion
4299v1  MLL-AF4 fusion
Reference
  Authors
Guenther MG, Lawton LN, Rozovskaia T, Frampton GM, Levine SS, Volkert TL, Croce CM, Nakamura T, Canaani E, Young RA
  Title
Aberrant chromatin at genes encoding stem cell regulators in human mixed-lineage leukemia.
  Journal
Genes Dev 22:3403-8 (2008)
DOI:10.1101/gad.1741408
Reference
  Authors
Slany RK
  Title
The molecular biology of mixed lineage leukemia.
  Journal
Haematologica 94:984-93 (2009)
DOI:10.3324/haematol.2008.002436
Reference
  Authors
Xia ZB, Popovic R, Chen J, Theisler C, Stuart T, Santillan DA, Erfurth F, Diaz MO, Zeleznik-Le NJ
  Title
The MLL fusion gene, MLL-AF4, regulates cyclin-dependent kinase inhibitor CDKN1B (p27kip1) expression.
  Journal
Proc Natl Acad Sci U S A 102:14028-33 (2005)
DOI:10.1073/pnas.0506464102
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