| | NETWORK: N00119 | |
Entry |
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Name |
MLL-AF4 fusion to transcriptional activation
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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 |
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Type |
Variant
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Disease |
H00001 | B-cell acute lymphoblastic leukemia |
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Gene |
4297 | KMT2A; lysine methyltransferase 2A |
4299 | AFF1; AF4/FMR2 family member 1 |
1025 | CDK9; cyclin dependent kinase 9 |
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 |
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 |
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 |
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Variant |
4297v1 (MLL-AF4) MLL-AF4 fusion
4299v1 (MLL-AF4) MLL-AF4 fusion
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Reference |
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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 |
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Reference |
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Authors |
Slany RK |
Title |
The molecular biology of mixed lineage leukemia. |
Journal |
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Reference |
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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 |
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LinkDB |
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