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
Drug
D00094 Tretinoin (JAN/USP/INN)
D10891 Capmatinib hydrochloride (USAN)
D11058 Adegramotide acetate (JAN)
D11060 Nelatimotide trifluoroacetate (JAN)
D11073 Tepotinib hydrochloride (USAN)
D12705 Gumarontinib hydrate (JAN)
D12729 Revumenib citrate (USAN)
D13194 Enzomenib tartrate (JAN/USAN)
D13255 Bleximenib besylate (USAN)
D13280 Gintemetostat (USAN/INN)
D13281 Gintemetostat tartrate (USAN)
Organism
Homo sapiens (human) [GN:
hsa ]
Gene
1026 CDKN1A; cyclin-dependent kinase inhibitor 1 isoform 1 [KO:K06625 ]
1027 CDKN1B; cyclin-dependent kinase inhibitor 1B [KO:K06624 ]
1031 CDKN2C; cyclin-dependent kinase 4 inhibitor C [KO:K06622 ]
1050 CEBPA; CCAAT/enhancer-binding protein alpha isoform a [KO:K09055 ]
1051 CEBPB; CCAAT/enhancer-binding protein beta isoform a [KO:K10048 ]
1053 CEBPE; CCAAT/enhancer-binding protein epsilon [KO:K10051 ]
10912 GADD45G; growth arrest and DNA damage-inducible protein GADD45 gamma [KO:K04402 ]
1436 CSF1R; macrophage colony-stimulating factor 1 receptor isoform a precursor [KO:K05090 ] [EC:2.7.10.1 ]
1437 CSF2; granulocyte-macrophage colony-stimulating factor precursor [KO:K05427 ]
1643 DDB2; DNA damage-binding protein 2 isoform WT [KO:K10140 ]
1647 GADD45A; growth arrest and DNA damage-inducible protein GADD45 alpha isoform 1 [KO:K04402 ]
1649 DDIT3; DNA damage-inducible transcript 3 protein isoform 2 [KO:K04452 ]
1655 DDX5; probable ATP-dependent RNA helicase DDX5 isoform a [KO:K12823 ] [EC:5.6.2.7 ]
1667 DEFA1; neutrophil defensin 1 preproprotein [KO:K05230 ]
1668 DEFA3; neutrophil defensin 3 preproprotein [KO:K05230 ]
1669 DEFA4; defensin alpha 4 preproprotein [KO:K05230 ]
1670 DEFA5; defensin alpha 5 preproprotein [KO:K05230 ]
171558 PTCRA; pre T-cell antigen receptor alpha isoform 2 precursor [KO:K06056 ]
2005 ELK4; ETS domain-containing protein Elk-4 isoform a [KO:K04376 ]
2078 ERG; transcriptional regulator ERG isoform 1 [KO:K09435 ]
2115 ETV1; ETS translocation variant 1 isoform a [KO:K09431 ]
2118 ETV4; ETS translocation variant 4 isoform 1 [KO:K15592 ]
2119 ETV5; ETS translocation variant 5 [KO:K15593 ]
2120 ETV6; transcription factor ETV6 isoform 1 [KO:K03211 ]
2130 EWSR1; RNA-binding protein EWS isoform 2 [KO:K13209 ]
2209 FCGR1A; high affinity immunoglobulin gamma Fc receptor I isoform 2 precursor [KO:K06498 ]
221037 JMJD1C; probable JmjC domain-containing histone demethylation protein 2C isoform a [KO:K11449 ] [EC:1.14.11.-]
2313 FLI1; Friend leukemia integration 1 transcription factor isoform 1 [KO:K09436 ]
2321 FLT1; vascular endothelial growth factor receptor 1 isoform 1 precursor [KO:K05096 ] [EC:2.7.10.1 ]
2521 FUS; RNA-binding protein FUS isoform 1 [KO:K13098 ]
25942 SIN3A; paired amphipathic helix protein Sin3a [KO:K11644 ]
26039 SS18L1; calcium-responsive transactivator isoform 1 [KO:K15623 ]
2892 GRIA3; glutamate receptor 3 isoform 2 precursor [KO:K05199 ]
30012 TLX3; T-cell leukemia homeobox protein 3 [KO:K15607 ]
3087 HHEX; hematopoietically-expressed homeobox protein HHEX [KO:K08024 ]
3195 TLX1; T-cell leukemia homeobox protein 1 isoform 1 [KO:K09340 ]
329 BIRC2; baculoviral IAP repeat-containing protein 2 isoform 1 [KO:K16060 ]
330 BIRC3; baculoviral IAP repeat-containing protein 3 [KO:K16060 ]
3398 ID2; DNA-binding protein inhibitor ID-2 [KO:K17693 ]
3479 IGF1; insulin-like growth factor 1 isoform 3 preproprotein [KO:K05459 ]
3480 IGF1R; insulin-like growth factor 1 receptor isoform 1 precursor [KO:K05087 ] [EC:2.7.10.1 ]
3486 IGFBP3; insulin-like growth factor-binding protein 3 isoform b precursor [KO:K10138 ]
3560 IL2RB; interleukin-2 receptor subunit beta precursor [KO:K05069 ]
3569 IL6; interleukin-6 isoform 1 precursor [KO:K05405 ]
3576 CXCL8; interleukin-8 isoform 1 precursor [KO:K10030 ]
3684 ITGAM; integrin alpha-M isoform 2 precursor [KO:K06461 ]
3695 ITGB7; integrin beta-7 isoform a precursor [KO:K06590 ]
4086 SMAD1; mothers against decapentaplegic homolog 1 [KO:K04676 ]
4094 MAF; transcription factor Maf isoform b [KO:K09035 ]
4208 MEF2C; myocyte-specific enhancer factor 2C isoform 1 [KO:K04454 ]
4233 MET; hepatocyte growth factor receptor isoform b preproprotein [KO:K05099 ] [EC:2.7.10.1 ]
4286 MITF; microphthalmia-associated transcription factor isoform 9 [KO:K09455 ]
4291 MLF1; myeloid leukemia factor 1 isoform 1 [KO:K15622 ]
4297 KMT2A; histone-lysine N-methyltransferase 2A isoform 2 precursor [KO:K09186 ] [EC:2.1.1.354 ]
4299 AFF1; AF4/FMR2 family member 1 isoform 2 [KO:K15184 ]
4609 MYC; myc proto-oncogene protein isoform 1 [KO:K04377 ]
4613 MYCN; N-myc proto-oncogene protein isoform 1 [KO:K09109 ]
4616 GADD45B; growth arrest and DNA damage-inducible protein GADD45 beta [KO:K04402 ]
466 ATF1; cyclic AMP-dependent transcription factor ATF-1 isoform c [KO:K09053 ]
4790 NFKB1; nuclear factor NF-kappa-B p105 subunit isoform 2 proprotein [KO:K02580 ]
4804 NGFR; tumor necrosis factor receptor superfamily member 16 precursor [KO:K02583 ]
4914 NTRK1; high affinity nerve growth factor receptor isoform 2 precursor [KO:K03176 ] [EC:2.7.10.1 ]
5077 PAX3; paired box protein Pax-3 isoform PAX3 [KO:K09381 ]
5079 PAX5; paired box protein Pax-5 isoform 1 [KO:K09383 ]
5081 PAX7; paired box protein Pax-7 isoform 3 [KO:K09381 ]
5087 PBX1; pre-B-cell leukemia transcription factor 1 isoform 1 [KO:K09355 ]
5090 PBX3; pre-B-cell leukemia transcription factor 3 isoform 1 [KO:K15610 ]
51384 WNT16; protein Wnt-16 isoform 1 precursor [KO:K01558 ]
51513 ETV7; transcription factor ETV7 isoform 1 [KO:K03211 ]
5154 PDGFA; platelet-derived growth factor subunit A isoform 1 preproprotein [KO:K04359 ]
5327 PLAT; tissue-type plasminogen activator isoform 1 preproprotein [KO:K01343 ] [EC:3.4.21.68 ]
5328 PLAU; urokinase-type plasminogen activator isoform 1 preproprotein [KO:K01348 ] [EC:3.4.21.73 ]
5371 PML; protein PML isoform 1 [KO:K10054 ] [EC:2.3.2.-]
5468 PPARG; peroxisome proliferator-activated receptor gamma isoform 2 [KO:K08530 ]
578 BAK1; bcl-2 homologous antagonist/killer [KO:K14021 ]
581 BAX; apoptosis regulator BAX isoform alpha [KO:K02159 ]
5914 RARA; retinoic acid receptor alpha isoform 1 [KO:K08527 ]
5966 REL; proto-oncogene c-Rel isoform 1 [KO:K09254 ]
597 BCL2A1; bcl-2-related protein A1 isoform 1 [KO:K02162 ]
5970 RELA; transcription factor p65 isoform 1 [KO:K04735 ]
598 BCL2L1; bcl-2-like protein 1 isoform Bcl-X(L) [KO:K04570 ]
604 BCL6; B-cell lymphoma 6 protein isoform 1 [KO:K15618 ]
6256 RXRA; retinoic acid receptor RXR-alpha isoform a [KO:K08524 ]
6257 RXRB; retinoic acid receptor RXR-beta isoform 2 [KO:K08525 ]
6258 RXRG; retinoic acid receptor RXR-gamma isoform a [KO:K08526 ]
64332 NFKBIZ; NF-kappa-B inhibitor zeta isoform a [KO:K14242 ]
648 BMI1; polycomb complex protein BMI-1 [KO:K11459 ]
64919 BCL11B; B-cell lymphoma/leukemia 11B isoform 1 [KO:K22046 ]
6495 SIX1; homeobox protein SIX1 isoform 1 [KO:K15614 ]
6667 SP1; transcription factor Sp1 isoform a [KO:K04684 ]
6688 SPI1; transcription factor PU.1 isoform 2 [KO:K09438 ]
6692 SPINT1; kunitz-type protease inhibitor 1 isoform 1 precursor [KO:K15619 ]
6929 TCF3; transcription factor E2-alpha isoform E12 [KO:K09063 ]
6935 ZEB1; zinc finger E-box-binding homeobox 1 isoform b [KO:K09299 ]
7030 TFE3; transcription factor E3 isoform 1 [KO:K09105 ]
7157 TP53; cellular tumor antigen p53 isoform a [KO:K04451 ]
7185 TRAF1; TNF receptor-associated factor 1 isoform a [KO:K03172 ]
728358 DEFA1B; neutrophil defensin 1 isoform 2 preproprotein [KO:K05230 ]
7490 WT1; Wilms tumor protein isoform P [KO:K09234 ]
7704 ZBTB16; zinc finger and BTB domain-containing protein 16 isoform 1 [KO:K10055 ]
7709 ZBTB17; zinc finger and BTB domain-containing protein 17 isoform 2 [KO:K10500 ]
7849 PAX8; paired box protein Pax-8 isoform PAX8A [KO:K09293 ]
7850 IL1R2; interleukin-1 receptor type 2 isoform 1 precursor [KO:K04387 ]
79058 ASPSCR1; tether containing UBX domain for GLUT4 isoform 1 [KO:K15627 ]
8013 NR4A3; nuclear receptor subfamily 4 group A member 3 isoform a [KO:K08559 ]
8091 HMGA2; high mobility group protein HMGI-C isoform a [KO:K09283 ]
8148 TAF15; TATA-binding protein-associated factor 2N isoform 1 [KO:K14651 ]
84444 DOT1L; histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1 [KO:K11427 ] [EC:2.1.1.360 ]
8464 SUPT3H; transcription initiation protein SPT3 homolog isoform 1 [KO:K11313 ]
85414 SLC45A3; solute carrier family 45 member 3 [KO:K15379 ]
860 RUNX2; runt-related transcription factor 2 isoform a [KO:K09278 ]
861 RUNX1; runt-related transcription factor 1 isoform AML1b [KO:K08367 ]
862 RUNX1T1; protein CBFA2T1 isoform B [KO:K10053 ]
8842 PROM1; prominin-1 isoform 1 precursor [KO:K06532 ]
8861 LDB1; LIM domain-binding protein 1 isoform 1 [KO:K15617 ]
8864 PER2; period circadian protein homolog 2 [KO:K02633 ]
8938 BAIAP3; BAI1-associated protein 3 isoform 1 [KO:K15621 ]
894 CCND2; G1/S-specific cyclin-D2 [KO:K10151 ]
929 CD14; monocyte differentiation antigen CD14 precursor [KO:K04391 ]
942 CD86; T-lymphocyte activation antigen CD86 isoform 1 precursor [KO:K05413 ]
958 CD40; tumor necrosis factor receptor superfamily member 5 isoform 1 precursor [KO:K03160 ]
9611 NCOR1; nuclear receptor corepressor 1 isoform 1 [KO:K04650 ]
9915 ARNT2; aryl hydrocarbon receptor nuclear translocator 2 [KO:K15589 ]
Reference
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Related pathway
KO pathway