Entry
Name
Transcriptional misregulation in cancer - Homo sapiens (human)
Description
In tumor cells, genes encoding transcription factors (TFs) are often amplified, deleted, rearranged via chromosomal translocation and inversion, or subjected to point mutations that result in a gain- or loss-of- function. In hematopoietic cancers and solid tumors, the translocations and inversions increase or deregulate transcription of the oncogene. Recurrent chromosome translocations generate novel fusion oncoproteins, which are common in myeloid cancers and soft-tissue sarcomas. The fusion proteins have aberrant transcriptional function compared to their wild-type counterparts. These fusion transcription factors alter expression of target genes, and thereby result in a variety of altered cellular properties that contribute to the tumourigenic process.
Class
Human Diseases; Cancer: overview
BRITE hierarchy
Pathway map
hsa05202 Transcriptional misregulation in cancer
Ortholog table
Drug
D00094 Tretinoin (JAN/USP/INN)
D10891 Capmatinib hydrochloride (USAN)
D11073 Tepotinib hydrochloride (USAN)
D12705 Gumarontinib hydrate (JAN)
D12729 Revumenib citrate (USAN)
Organism
Homo sapiens (human) [GN:
hsa ]
Gene
861 RUNX1; RUNX family transcription factor 1 [KO:K08367 ]
1437 CSF2; colony stimulating factor 2 [KO:K05427 ]
862 RUNX1T1; RUNX1 partner transcriptional co-repressor 1 [KO:K10053 ]
25942 SIN3A; SIN3 transcription regulator family member A [KO:K11644 ]
9611 NCOR1; nuclear receptor corepressor 1 [KO:K04650 ]
1050 CEBPA; CCAAT enhancer binding protein alpha [KO:K09055 ]
8864 PER2; period circadian regulator 2 [KO:K02633 ]
5371 PML; PML nuclear body scaffold [KO:K10054 ] [EC:2.3.2.-]
5914 RARA; retinoic acid receptor alpha [KO:K08527 ]
1053 CEBPE; CCAAT enhancer binding protein epsilon [KO:K10051 ]
597 BCL2A1; BCL2 related protein A1 [KO:K02162 ]
7704 ZBTB16; zinc finger and BTB domain containing 16 [KO:K10055 ]
4609 MYC; MYC proto-oncogene, bHLH transcription factor [KO:K04377 ]
2120 ETV6; ETS variant transcription factor 6 [KO:K03211 ]
51513 ETV7; ETS variant transcription factor 7 [KO:K03211 ]
4299 AFF1; ALF transcription elongation factor 1 [KO:K15184 ]
4298 MLLT1; MLLT1 super elongation complex subunit [KO:K15187 ]
4300 MLLT3; MLLT3 super elongation complex subunit [KO:K15187 ]
860 RUNX2; RUNX family transcription factor 2 [KO:K09278 ]
4208 MEF2C; myocyte enhancer factor 2C [KO:K04454 ]
221037 JMJD1C; jumonji domain containing 1C [KO:K11449 ] [EC:1.14.11.-]
8091 HMGA2; high mobility group AT-hook 2 [KO:K09283 ]
8464 SUPT3H; SPT3 homolog, SAGA and STAGA complex component [KO:K11313 ]
1027 CDKN1B; cyclin dependent kinase inhibitor 1B [KO:K06624 ]
1031 CDKN2C; cyclin dependent kinase inhibitor 2C [KO:K06622 ]
2892 GRIA3; glutamate ionotropic receptor AMPA type subunit 3 [KO:K05199 ]
4066 LYL1; LYL1 basic helix-loop-helix family member [KO:K15604 ]
3087 HHEX; hematopoietically expressed homeobox [KO:K08024 ]
5966 REL; REL proto-oncogene, NF-kB subunit [KO:K09254 ]
329 BIRC2; baculoviral IAP repeat containing 2 [KO:K16060 ]
330 BIRC3; baculoviral IAP repeat containing 3 [KO:K16060 ]
7185 TRAF1; TNF receptor associated factor 1 [KO:K03172 ]
604 BCL6; BCL6 transcription repressor [KO:K15618 ]
4094 MAF; MAF bZIP transcription factor [KO:K09035 ]
8290 H3-4; H3.4 histone, cluster member [KO:K11253 ]
5468 PPARG; peroxisome proliferator activated receptor gamma [KO:K08530 ]
5546 PRCC; proline rich mitotic checkpoint control factor [KO:K13105 ]
7030 TFE3; transcription factor binding to IGHM enhancer 3 [KO:K09105 ]
1026 CDKN1A; cyclin dependent kinase inhibitor 1A [KO:K06625 ]
2078 ERG; ETS transcription factor ERG [KO:K09435 ]
6935 ZEB1; zinc finger E-box binding homeobox 1 [KO:K09299 ]
7850 IL1R2; interleukin 1 receptor type 2 [KO:K04387 ]
6692 SPINT1; serine peptidase inhibitor, Kunitz type 1 [KO:K15619 ]
2115 ETV1; ETS variant transcription factor 1 [KO:K09431 ]
2118 ETV4; ETS variant transcription factor 4 [KO:K15592 ]
2119 ETV5; ETS variant transcription factor 5 [KO:K15593 ]
85414 SLC45A3; solute carrier family 45 member 3 [KO:K15379 ]
2005 ELK4; ETS transcription factor ELK4 [KO:K04376 ]
4613 MYCN; MYCN proto-oncogene, bHLH transcription factor [KO:K09109 ]
648 BMI1; BMI1 proto-oncogene, polycomb ring finger [KO:K11459 ]
7709 ZBTB17; zinc finger and BTB domain containing 17 [KO:K10500 ]
4804 NGFR; nerve growth factor receptor [KO:K02583 ]
2313 FLI1; Fli-1 proto-oncogene, ETS transcription factor [KO:K09436 ]
3479 IGF1; insulin like growth factor 1 [KO:K05459 ]
3486 IGFBP3; insulin like growth factor binding protein 3 [KO:K10138 ]
54738 FEV; FEV transcription factor, ETS family member [KO:K09437 ]
466 ATF1; activating transcription factor 1 [KO:K09053 ]
9915 ARNT2; aryl hydrocarbon receptor nuclear translocator 2 [KO:K15589 ]
4286 MITF; melanocyte inducing transcription factor [KO:K09455 ]
5154 PDGFA; platelet derived growth factor subunit A [KO:K04359 ]
3560 IL2RB; interleukin 2 receptor subunit beta [KO:K05069 ]
8938 BAIAP3; BAI1 associated protein 3 [KO:K15621 ]
8013 NR4A3; nuclear receptor subfamily 4 group A member 3 [KO:K08559 ]
8148 TAF15; TATA-box binding protein associated factor 15 [KO:K14651 ]
1649 DDIT3; DNA damage inducible transcript 3 [KO:K04452 ]
1051 CEBPB; CCAAT enhancer binding protein beta [KO:K10048 ]
4790 NFKB1; nuclear factor kappa B subunit 1 [KO:K02580 ]
5970 RELA; RELA proto-oncogene, NF-kB subunit [KO:K04735 ]
3576 CXCL8; C-X-C motif chemokine ligand 8 [KO:K10030 ]
26039 SS18L1; SS18L1 subunit of BAF chromatin remodeling complex [KO:K15623 ]
6760 SS18; SS18 subunit of BAF chromatin remodeling complex [KO:K15623 ]
26471 NUPR1; nuclear protein 1, transcriptional regulator [KO:K15626 ]
79058 ASPSCR1; ASPSCR1 tether for SLC2A4, UBX domain containing [KO:K15627 ]
1647 GADD45A; growth arrest and DNA damage inducible alpha [KO:K04402 ]
4616 GADD45B; growth arrest and DNA damage inducible beta [KO:K04402 ]
10912 GADD45G; growth arrest and DNA damage inducible gamma [KO:K04402 ]
581 BAX; BCL2 associated X, apoptosis regulator [KO:K02159 ]
578 BAK1; BCL2 antagonist/killer 1 [KO:K14021 ]
1643 DDB2; damage specific DNA binding protein 2 [KO:K10140 ]
Reference
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The MLL fusion gene, MLL-AF4, regulates cyclin-dependent kinase inhibitor CDKN1B (p27kip1) expression.
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MLL fusion proteins preferentially regulate a subset of wild-type MLL target genes in the leukemic genome.
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Authors
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Title
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Journal
Related pathway
KO pathway