Number of enzymes: | 14 |
Number of disease: | 24 |
Number of reactomes: | 14 |
Number of reactions: | 82 |
DiseaseID | Gene | UniProt | EC numbers | Reactomes | Expanded Reactomes | Reactome roots | Reactions |
---|---|---|---|---|---|---|---|
MONDO:0007299 | NSD1 | Q96L73 | 2.1.1.357 | R-HSA-3214841 |
R-HSA-4839726 R-HSA-3247509 |
Chromatin organization |
R-HSA-4827383
(
R-HSA-3214841
) R-HSA-4827383Reaction Name: WHSC1 (KMT3G), NSD1 (KMT3B), SMYD2 (KMT3C) methylate lysine-37 of histone H3 (H3K36)See in Reactome R-HSA-5638157Reaction Name: WHSC1 (KMT3G), NSD1 (KMT3B), SMYD2 (KMT3C), ASH1L methylate methyl-lysine-37 of histone H3 (H3K36)See in Reactome |
MONDO:0007763 | SETD2 | Q9BYW2 |
2.1.1.359 2.1.1.- |
R-HSA-3214841 |
R-HSA-4839726 R-HSA-3247509 |
Chromatin organization |
R-HSA-5638141
(
R-HSA-3214841
)
R-HSA-5638141Reaction Name: SETD2 (KMT3A) methylates dimethyl-lysine-37 of histone H3 (H3K36)See in Reactome |
MONDO:0007843 | KMT2D | O14686 | 2.1.1.364 |
R-HSA-8936459 R-HSA-8936459Reactome Name: RUNX1 regulates genes involved in megakaryocyte differentiation and platelet functionSee in Reactome R-HSA-5617472Reactome Name: Activation of anterior HOX genes in hindbrain development during early embryogenesisSee in Reactome R-HSA-201722Reactome Name: Formation of the beta-catenin:TCF transactivating complexSee in Reactome R-HSA-3769402Reactome Name: Deactivation of the beta-catenin transactivating complexSee in Reactome |
R-HSA-195721 R-HSA-212436 R-HSA-74160 R-HSA-5619507 R-HSA-8878171 R-HSA-4839726 R-HSA-162582 R-HSA-201681 R-HSA-3247509 R-HSA-1266738 R-HSA-73857 |
Gene expression (Transcription) Chromatin organization Signal Transduction Developmental Biology |
R-HSA-3364014
(
R-HSA-201722
) R-HSA-3364026 ( R-HSA-201722 ) R-HSA-3364042 ( R-HSA-3769402 ) R-HSA-3364042Reaction Name: APC promotes disassembly of beta-catenin transactivation complexSee in Reactome R-HSA-5159245Reaction Name: SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4)See in Reactome R-HSA-5244692Reaction Name: Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4)See in Reactome R-HSA-5617452 ( R-HSA-5617472 ) R-HSA-5617454 ( R-HSA-5617472 ) R-HSA-5617471 ( R-HSA-5617472 ) R-HSA-5617483 ( R-HSA-5617472 ) R-HSA-5617484 ( R-HSA-5617472 ) R-HSA-5617486 ( R-HSA-5617472 ) R-HSA-5617492 ( R-HSA-5617472 ) R-HSA-5617641 ( R-HSA-5617472 ) R-HSA-5617641Reaction Name: MAFB (KREISLER) and HOXB1:PBX1:PKNOX1 (HOXB1:PBX1:PREP1) activate HOXA3 expressionSee in Reactome R-HSA-5617672 ( R-HSA-5617472 ) R-HSA-5617676 ( R-HSA-5617472 ) R-HSA-5617859 ( R-HSA-5617472 ) R-HSA-5617866 ( R-HSA-5617472 ) R-HSA-5617867 ( R-HSA-5617472 ) R-HSA-5617874 ( R-HSA-5617472 ) R-HSA-5617887 ( R-HSA-5617472 ) R-HSA-5617896 ( R-HSA-5617472 ) R-HSA-5621002 ( R-HSA-5617472 ) R-HSA-5621010 ( R-HSA-5617472 ) R-HSA-5637686 ( R-HSA-3214841 ) R-HSA-5637686Reaction Name: WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4)See in Reactome R-HSA-6810139 ( R-HSA-5617472 ) R-HSA-6810158 ( R-HSA-5617472 ) R-HSA-6810159 ( R-HSA-5617472 ) R-HSA-6810161 ( R-HSA-5617472 ) R-HSA-8935731 ( R-HSA-8936459 ) R-HSA-8935731Reaction Name: ITGA2B gene transcription is stimulated by the complex of RUNX1, GATA1 and PRMT1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome R-HSA-8936481 ( R-HSA-8936459 ) R-HSA-8936481Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoterSee in Reactome R-HSA-8936621 ( R-HSA-8936459 ) R-HSA-8936621Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoterSee in Reactome R-HSA-8936628Reaction Name: GP1BA gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome R-HSA-8936995 ( R-HSA-8936459 ) R-HSA-8936995Reaction Name: THBS1 gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome R-HSA-8937016Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoterSee in Reactome R-HSA-8937050 ( R-HSA-8936459 ) R-HSA-8937050Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoterSee in Reactome R-HSA-8937097Reaction Name: MIR27A gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome |
MONDO:0009072 | SETD2 | Q9BYW2 |
2.1.1.359 2.1.1.- |
R-HSA-3214841 |
R-HSA-4839726 R-HSA-3247509 |
Chromatin organization |
R-HSA-5638141
(
R-HSA-3214841
)
R-HSA-5638141Reaction Name: SETD2 (KMT3A) methylates dimethyl-lysine-37 of histone H3 (H3K36)See in Reactome |
MONDO:0009693 | KMT2C | Q8NEZ4 | 2.1.1.364 |
R-HSA-8936459 R-HSA-8936459Reactome Name: RUNX1 regulates genes involved in megakaryocyte differentiation and platelet functionSee in Reactome R-HSA-5617472Reactome Name: Activation of anterior HOX genes in hindbrain development during early embryogenesisSee in Reactome |
R-HSA-212436 R-HSA-74160 R-HSA-5619507 R-HSA-8878171 R-HSA-4839726 R-HSA-3247509 R-HSA-1266738 R-HSA-73857 |
Gene expression (Transcription) Chromatin organization Developmental Biology |
R-HSA-5159245
(
R-HSA-3214841
) R-HSA-5159245Reaction Name: SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4)See in Reactome R-HSA-5244692Reaction Name: Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4)See in Reactome R-HSA-5617452 ( R-HSA-5617472 ) R-HSA-5617454 ( R-HSA-5617472 ) R-HSA-5617471 ( R-HSA-5617472 ) R-HSA-5617483 ( R-HSA-5617472 ) R-HSA-5617484 ( R-HSA-5617472 ) R-HSA-5617486 ( R-HSA-5617472 ) R-HSA-5617492 ( R-HSA-5617472 ) R-HSA-5617641 ( R-HSA-5617472 ) R-HSA-5617641Reaction Name: MAFB (KREISLER) and HOXB1:PBX1:PKNOX1 (HOXB1:PBX1:PREP1) activate HOXA3 expressionSee in Reactome R-HSA-5617672 ( R-HSA-5617472 ) R-HSA-5617676 ( R-HSA-5617472 ) R-HSA-5617859 ( R-HSA-5617472 ) R-HSA-5617866 ( R-HSA-5617472 ) R-HSA-5617867 ( R-HSA-5617472 ) R-HSA-5617874 ( R-HSA-5617472 ) R-HSA-5617887 ( R-HSA-5617472 ) R-HSA-5617896 ( R-HSA-5617472 ) R-HSA-5621002 ( R-HSA-5617472 ) R-HSA-5621010 ( R-HSA-5617472 ) R-HSA-5637686 ( R-HSA-3214841 ) R-HSA-5637686Reaction Name: WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4)See in Reactome R-HSA-6810139 ( R-HSA-5617472 ) R-HSA-6810158 ( R-HSA-5617472 ) R-HSA-6810159 ( R-HSA-5617472 ) R-HSA-6810161 ( R-HSA-5617472 ) R-HSA-8935731 ( R-HSA-8936459 ) R-HSA-8935731Reaction Name: ITGA2B gene transcription is stimulated by the complex of RUNX1, GATA1 and PRMT1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome R-HSA-8936481 ( R-HSA-8936459 ) R-HSA-8936481Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoterSee in Reactome R-HSA-8936621 ( R-HSA-8936459 ) R-HSA-8936621Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoterSee in Reactome R-HSA-8936628Reaction Name: GP1BA gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome R-HSA-8936995 ( R-HSA-8936459 ) R-HSA-8936995Reaction Name: THBS1 gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome R-HSA-8937016Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoterSee in Reactome R-HSA-8937050 ( R-HSA-8936459 ) R-HSA-8937050Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoterSee in Reactome R-HSA-8937097Reaction Name: MIR27A gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome |
MONDO:0010193 | EZH2 | Q15910 | 2.1.1.356 |
R-HSA-2559580 R-HSA-5617472 R-HSA-5617472Reactome Name: Activation of anterior HOX genes in hindbrain development during early embryogenesisSee in Reactome R-HSA-8953750 R-HSA-3214841 R-HSA-8943724 |
R-HSA-8953897 R-HSA-1257604 R-HSA-2559583 R-HSA-212436 R-HSA-6807070 R-HSA-5619507 R-HSA-2262752 R-HSA-9006925 R-HSA-4839726 R-HSA-162582 R-HSA-212165 R-HSA-73857 R-HSA-74160 R-HSA-1266738 R-HSA-3247509 |
Cellular responses to stimuli Chromatin organization Signal Transduction Gene expression (Transcription) Developmental Biology |
R-HSA-212222
(
R-HSA-212300
) R-HSA-212252 ( R-HSA-212300 ) R-HSA-212252Reaction Name: Polycomb Repressive Complex 2 (PRC2) Is recruited to chromatinSee in Reactome R-HSA-212269 ( R-HSA-212300 ) R-HSA-3240295 ( R-HSA-2559580 ) R-HSA-3240295Reaction Name: PRC2-EZH2 trimethylates nucleosomes associated with CDKN2A promoterSee in Reactome R-HSA-3240957 ( R-HSA-2559580 ) R-HSA-5617431 ( R-HSA-5617472 ) R-HSA-5617445 ( R-HSA-5617472 ) R-HSA-5617452 ( R-HSA-5617472 ) R-HSA-5617650 ( R-HSA-5617472 ) R-HSA-5617859 ( R-HSA-5617472 ) R-HSA-5617862 ( R-HSA-5617472 ) R-HSA-5617887 ( R-HSA-5617472 ) R-HSA-5617896 ( R-HSA-5617472 ) R-HSA-5638332 ( R-HSA-3214841 ) R-HSA-5638332Reaction Name: PRC2 (EZH2) Core:AEBP2 methylates lysine-28 of histone H3 (H3K27)See in Reactome R-HSA-6810158 ( R-HSA-5617472 ) R-HSA-6810159 ( R-HSA-5617472 ) R-HSA-6810161 ( R-HSA-5617472 ) R-HSA-8943817 ( R-HSA-8943724 ) R-HSA-8943817Reaction Name: MECOM (EVI1) recruits polycomb repressor complexes (PRCs) to the PTEN gene promoterSee in Reactome R-HSA-8944104Reaction Name: PTEN gene transcription is stimulated by TP53, EGR1, PPARG, ATF2, MAF1, and inhibited by NR2E1, SALL4, MECOM, SNAI1, SNAI2, JUNSee in Reactome |
MONDO:0011518 | KMT2A | Q03164 |
2.1.1.364 2.1.1.- |
R-HSA-8936459 R-HSA-8936459Reactome Name: RUNX1 regulates genes involved in megakaryocyte differentiation and platelet functionSee in Reactome R-HSA-8939236Reactome Name: RUNX1 regulates transcription of genes involved in differentiation of HSCsSee in Reactome R-HSA-9616222 |
R-HSA-212436 R-HSA-74160 R-HSA-8878171 R-HSA-4839726 R-HSA-3247509 R-HSA-1266738 R-HSA-73857 |
Gene expression (Transcription) Chromatin organization Developmental Biology |
R-HSA-5159245
(
R-HSA-3214841
) R-HSA-5159245Reaction Name: SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4)See in Reactome R-HSA-5244692Reaction Name: Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4)See in Reactome R-HSA-5637686Reaction Name: WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4)See in Reactome R-HSA-8865491 ( R-HSA-8939236 ) R-HSA-8865498 ( R-HSA-8939236 ) R-HSA-8865498Reaction Name: KMT2A trimethylates nucleosomes at the SPI1 gene locus producing H3K4Me3 markSee in Reactome R-HSA-8865505Reaction Name: SPI1 (PU.1) gene transcription is stimulated by RUNX1:CBFB:KMT2ASee in Reactome R-HSA-8935731Reaction Name: ITGA2B gene transcription is stimulated by the complex of RUNX1, GATA1 and PRMT1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome R-HSA-8936481 ( R-HSA-8936459 ) R-HSA-8936481Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoterSee in Reactome R-HSA-8936621 ( R-HSA-8936459 ) R-HSA-8936621Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoterSee in Reactome R-HSA-8936628Reaction Name: GP1BA gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome R-HSA-8936995 ( R-HSA-8936459 ) R-HSA-8936995Reaction Name: THBS1 gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome R-HSA-8937016Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoterSee in Reactome R-HSA-8937050 ( R-HSA-8936459 ) R-HSA-8937050Reaction Name: Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoterSee in Reactome R-HSA-8937097Reaction Name: MIR27A gene transcription is stimulated by the complex containing RUNX1, PRMT1 and GATA1 and inhibited by the complex of RUNX1, SIN3A and PRMT6See in Reactome |
MONDO:0013108 | SETD2 | Q9BYW2 |
2.1.1.359 2.1.1.- |
R-HSA-3214841 |
R-HSA-4839726 R-HSA-3247509 |
Chromatin organization |
R-HSA-5638141
(
R-HSA-3214841
)
R-HSA-5638141Reaction Name: SETD2 (KMT3A) methylates dimethyl-lysine-37 of histone H3 (H3K36)See in Reactome |
MONDO:0014152 | PRDM16 | Q9HAZ2 | 2.1.1.367 | R-HSA-3214841 |
R-HSA-4839726 R-HSA-3247509 |
Chromatin organization |
R-HSA-5634802
(
R-HSA-3214841
)
R-HSA-5634802Reaction Name: MECOM (KMT8E), PRDM16 (KMT8F) methylate lysine-10 of replicative histone H3 (H3K9)See in Reactome |
MONDO:0014758 | MECOM | Q03112 | 2.1.1.367 |
R-HSA-8943724 R-HSA-3214841 |
R-HSA-1257604 R-HSA-6807070 R-HSA-9006925 R-HSA-4839726 R-HSA-162582 R-HSA-3247509 |
Chromatin organization Signal Transduction |
R-HSA-5634802
(
R-HSA-3214841
) R-HSA-5634802Reaction Name: MECOM (KMT8E), PRDM16 (KMT8F) methylate lysine-10 of replicative histone H3 (H3K9)See in Reactome R-HSA-8943817 ( R-HSA-8943724 ) R-HSA-8943817Reaction Name: MECOM (EVI1) recruits polycomb repressor complexes (PRCs) to the PTEN gene promoterSee in Reactome R-HSA-8944104Reaction Name: PTEN gene transcription is stimulated by TP53, EGR1, PPARG, ATF2, MAF1, and inhibited by NR2E1, SALL4, MECOM, SNAI1, SNAI2, JUNSee in Reactome |