PMID: 30984620

Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Frontiers in oncology
M Han, L Jia, W Lv, L Wang, W Cui
2019

234 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-209103826-C-A IDH1 c.1123G>T p.Asp375Tyr Missense 9/10 -
2-209103871-C-T IDH1 c.1078G>A p.Glu360Lys Missense 9/10 -
2-25470507-C-T DNMT3A c.967G>A p.Glu323Lys Missense 8/23 -
2-209108313-G-T IDH1 c.536C>A p.Ala179Asp Missense 6/10 -
2-25459873-G-A DNMT3A c.2410C>T p.Pro804Ser Missense 21/23 -
2-209103872-C-G IDH1 c.1077G>C p.Leu359Phe Missense 9/10 -
7-148508728-A-G EZH2 c.1936T>C p.Tyr646His Missense 16/20 -
2-25470989-C-T DNMT3A c.772G>A p.Val258Met Missense 7/23 -
2-209108317-C-T IDH1 c.532G>A p.Val178Ile Missense 6/10 -
2-25470539-G-A DNMT3A c.935C>T p.Ser312Phe Missense 8/23 -
7-148515125-G-A EZH2 c.1084C>T p.Arg362Trp Missense 10/20 -
2-25469632-C-A DNMT3A c.1136G>T p.Arg379Leu Missense 10/23 -
7-148513804-G-C EZH2 c.1477C>G p.Pro493Ala Missense 12/20 -
2-25464474-T-C DNMT3A c.2039A>G p.Lys680Arg Missense 17/23 -
7-148525904-C-G EZH2 c.553G>C p.Asp185His Missense 6/20 -
7-148515191-C-T EZH2 c.1018G>A p.Ala340Thr Missense 10/20 -
7-148523641-G-A EZH2 c.812C>T p.Ser271Phe Missense 8/20 -
7-148526919-G-C EZH2 c.385C>G p.His129Asp Missense 5/20 -
2-25457161-A-G DNMT3A c.2726T>C p.Phe909Ser Missense 23/23 -
6-114277789-A-G HDAC2 c.352T>C p.Ser118Pro Missense 4/14 -
6-114270215-C-T HDAC2 c.769G>A p.Ala257Thr Missense 8/14 -
7-148543611-T-C EZH2 c.197A>G p.Gln66Arg Missense 3/20 -
2-25458613-C-G DNMT3A c.2560G>C p.Glu854Gln Missense 22/23 -
2-209110110-T-A IDH1 c.453A>T p.Lys151Asn Missense 5/10 -
2-209110110-T-G IDH1 c.453A>C p.Lys151Asn Missense 5/10 -
2-25523009-G-A DNMT3A c.176C>T p.Pro59Leu Missense 3/23 -
2-25462006-T-C DNMT3A c.2401A>G p.Met801Val Missense 20/23 -
7-148543565-C-G EZH2 c.243G>C p.Arg81Ser Missense 3/20 -
7-148508765-G-C EZH2 c.1899C>G p.Ile633Met Missense 16/20 -
7-148525908-A-C EZH2 c.549T>G p.Asp183Glu Missense 6/20 -
2-209106784-C-G IDH1 c.784G>C p.Glu262Gln Missense 7/10 -
6-114277310-C-A HDAC2 c.364G>T p.Ala122Ser Missense 5/14 -
2-25463181-C-T DNMT3A c.2312G>A p.Arg771Gln Missense 19/23 -
2-209116217-C-T IDH1 c.59G>A p.Arg20Gln Missense 3/10 -
2-209106780-C-A IDH1 c.788G>T p.Gly263Val Missense 7/10 -
2-209104698-C-G IDH1 c.880G>C p.Val294Leu Missense 8/10 -
7-148525901-C-T EZH2 c.556G>A p.Asp186Asn Missense 6/20 -
2-209108284-T-A IDH1 c.565A>T p.Ile189Phe Missense 6/10 -
2-209108284-T-C IDH1 c.565A>G p.Ile189Val Missense 6/10 -
2-209104698-C-A IDH1 c.880G>T p.Val294Leu Missense 8/10 -
2-25469592-C-A DNMT3A c.1176G>T p.Glu392Asp Missense 10/23 -
2-25469592-C-G DNMT3A c.1176G>C p.Glu392Asp Missense 10/23 -
2-25505412-C-A DNMT3A c.346G>T p.Ala116Ser Missense 4/23 -
2-25458603-T-A DNMT3A c.2570A>T p.Asp857Val Missense 22/23 -
2-209113264-C-A IDH1 c.243G>T p.Lys81Asn Missense 4/10 -
2-209113264-C-G IDH1 c.243G>C p.Lys81Asn Missense 4/10 -
2-209106864-T-C IDH1 c.704A>G p.Tyr235Cys Missense 7/10 -
2-209116194-C-G IDH1 c.82G>C p.Glu28Gln Missense 3/10 -
2-209104688-C-G IDH1 c.890G>C p.Cys297Ser Missense 8/10 -
2-25462066-C-G DNMT3A c.2341G>C p.Asp781His Missense 20/23 -
4-106155817-A-G TET2 c.718A>G p.Ile240Val Missense 3/3 -
2-25467199-C-T DNMT3A c.1676G>A p.Cys559Tyr Missense 15/23 -
2-25469495-G-T DNMT3A c.1273C>A p.Pro425Thr Missense 10/23 -
2-25457161-A-C DNMT3A c.2726T>G p.Phe909Cys Missense 23/23 -
2-25505492-G-C DNMT3A c.266C>G p.Pro89Arg Missense 4/23 -
7-148526829-C-G EZH2 c.475G>C p.Gly159Arg Missense 5/20 -
2-209104649-C-A IDH1 c.929G>T p.Gly310Val Missense 8/10 -
7-148515112-T-C EZH2 c.1097A>G p.Asn366Ser Missense 10/20 -
2-25469085-C-T DNMT3A c.1373G>A p.Arg458Gln Missense 11/23 -
2-25457204-C-T DNMT3A c.2683G>A p.Val895Met Missense 23/23 -
7-148526879-T-A EZH2 c.425A>T p.Asp142Val Missense 5/20 -
2-209103934-C-A IDH1 c.1015G>T p.Gly339Trp Missense 9/10 -
2-25469966-T-C DNMT3A c.1076A>G p.Tyr359Cys Missense 9/23 -
2-25468196-A-T DNMT3A c.1480T>A p.Cys494Ser Missense 13/23 -
6-114281153-C-G HDAC2 c.82G>C p.Gly28Arg Missense 2/14 -
7-148524298-G-A EZH2 c.686C>T p.Ser229Leu Missense 7/20 -
2-209113257-C-G IDH1 c.250G>C p.Glu84Gln Missense 4/10 -
2-25469531-C-T DNMT3A c.1237G>A p.Gly413Ser Missense 10/23 -
7-148508793-G-C EZH2 c.1871C>G p.Ser624Cys Missense 16/20 -
2-209103933-C-T IDH1 c.1016G>A p.Gly339Glu Missense 9/10 -
7-148529808-T-C EZH2 c.281A>G p.Gln94Arg Missense 4/20 -
7-148526829-C-T EZH2 c.475G>A p.Gly159Arg Missense 5/20 -
6-114277816-C-G HDAC2 c.325G>C p.Glu109Gln Missense 4/14 -
2-209113243-C-G IDH1 c.264G>C p.Leu88Phe Missense 4/10 -
2-209108198-C-A IDH1 c.651G>T p.Lys217Asn Missense 6/10 -
2-209108198-C-G IDH1 c.651G>C p.Lys217Asn Missense 6/10 -
7-148543565-C-A EZH2 c.243G>T p.Arg81Ser Missense 3/20 -
7-148524329-G-A EZH2 c.655C>T p.Pro219Ser Missense 7/20 -
7-148512029-T-G EZH2 c.1649A>C p.Lys550Thr Missense 14/20 -
2-25458687-T-C DNMT3A c.2486A>G p.Lys829Arg Missense 22/23 -
2-25457255-A-G DNMT3A c.2632T>C p.Ser878Pro Missense 23/23 -
2-25466851-C-T DNMT3A c.1852G>A p.Asp618Asn Missense 16/23 -
7-148507497-G-C EZH2 c.1957C>G p.Gln653Glu Missense 17/20 -
2-25467167-C-A DNMT3A c.1708G>T p.Gly570Trp Missense 15/23 -
7-148512117-G-A EZH2 c.1561C>T p.His521Tyr Missense 14/20 -
2-209113202-A-G IDH1 c.305T>C p.Ile102Thr Missense 4/10 -
7-18687535-G-T HDAC9 c.1148G>T p.Gly383Val Missense 11/13 -
6-114264617-C-A HDAC2 c.1276G>T p.Asp426Tyr Missense 12/14 -
2-209103952-T-C IDH1 c.997A>G p.Ile333Val Missense 9/10 -
2-25468908-C-A DNMT3A c.1455G>T p.Gln485His Missense 12/23 -
2-25468908-C-G DNMT3A c.1455G>C p.Gln485His Missense 12/23 -
2-209113243-C-A IDH1 c.264G>T p.Leu88Phe Missense 4/10 -
7-148514325-T-G EZH2 c.1399A>C p.Thr467Pro Missense 11/20 -
2-209103811-T-A IDH1 c.1138A>T p.Ile380Phe Missense 9/10 -
2-25459874-C-A DNMT3A c.2409G>T p.Arg803Ser Missense 21/23 -
2-25459874-C-G DNMT3A c.2409G>C p.Arg803Ser Missense 21/23 -
2-25463560-T-A DNMT3A c.2122A>T p.Ser708Cys Missense 18/23 -
6-114266556-T-A HDAC2 c.1061A>T p.Gln354Leu Missense 10/14 -
2-25497810-C-A DNMT3A c.639G>T p.Glu213Asp Missense 6/23 -
7-148524287-C-A EZH2 c.697G>T p.Asp233Tyr Missense 7/20 -
2-209113151-C-T IDH1 c.356G>A p.Arg119Gln Missense 4/10 -
2-209104727-C-A IDH1 c.851G>T p.Gly284Val Missense 8/10 -
2-209108220-C-T IDH1 c.629G>A p.Ser210Asn Missense 6/10 -
2-25464507-G-C DNMT3A c.2006C>G p.Ser669Cys Missense 17/23 -
2-25464576-C-A DNMT3A c.1937G>T p.Gly646Val Missense 17/23 -
2-209113227-A-G IDH1 c.280T>C p.Ser94Pro Missense 4/10 -
2-25457232-C-A DNMT3A c.2655G>T p.Arg885Ser Missense 23/23 -
2-25457232-C-G DNMT3A c.2655G>C p.Arg885Ser Missense 23/23 -
2-25497810-C-G DNMT3A c.639G>C p.Glu213Asp Missense 6/23 -
7-148512098-G-A EZH2 c.1580C>T p.Pro527Leu Missense 14/20 -
2-209104660-C-G IDH1 c.918G>C p.Glu306Asp Missense 8/10 -
2-25463529-G-A DNMT3A c.2153C>T p.Pro718Leu Missense 18/23 -
2-25523012-G-A DNMT3A c.173C>T p.Pro58Leu Missense 3/23 -
2-209104599-T-C IDH1 c.979A>G p.Thr327Ala Missense 8/10 -
2-209103903-T-C IDH1 c.1046A>G p.Asn349Ser Missense 9/10 -
2-25523021-C-T DNMT3A c.164G>A p.Arg55His Missense 3/23 -
2-209108275-A-G IDH1 c.574T>C p.Phe192Leu Missense 6/10 -
2-209108176-C-T IDH1 c.673G>A p.Asp225Asn Missense 6/10 -
7-148543617-C-A EZH2 c.191G>T p.Arg64Met Missense 3/20 -
2-209110083-G-C IDH1 c.480C>G p.Asp160Glu Missense 5/10 -
2-25457242-C-T DNMT3A c.2645G>A p.Arg882His Missense 23/23 -
6-114279903-T-C HDAC2 c.193A>G p.Met65Val Missense 3/14 -
7-148544290-C-A EZH2 c.101G>T p.Arg34Leu Missense 2/20 -
7-148544290-C-G EZH2 c.101G>C p.Arg34Pro Missense 2/20 -
2-209104681-A-T IDH1 c.897T>A p.Asp299Glu Missense 8/10 -
7-148526873-G-A EZH2 c.431C>T p.Thr144Ile Missense 5/20 -
7-148523668-G-T EZH2 c.785C>A p.Pro262His Missense 8/20 -
6-114277315-G-A HDAC2 c.359C>T p.Ala120Val Missense 5/14 -
2-25462065-T-C DNMT3A c.2342A>G p.Asp781Gly Missense 20/23 -
2-25470925-T-A DNMT3A c.836A>T p.Asp279Val Missense 7/23 -
2-25457219-C-A DNMT3A c.2668G>T p.Gly890Cys Missense 23/23 -
2-25469567-C-A DNMT3A c.1201G>T p.Val401Leu Missense 10/23 -
2-209103927-G-A IDH1 c.1022C>T p.Ala341Val Missense 9/10 -
2-25466816-C-G DNMT3A c.1887G>C p.Glu629Asp Missense 16/23 -
7-148525908-A-T EZH2 c.549T>A p.Asp183Glu Missense 6/20 -
7-148543653-C-A EZH2 c.155G>T p.Arg52Ile Missense 3/20 -
2-209103936-C-G IDH1 c.1013G>C p.Arg338Thr Missense 9/10 -
7-148524301-G-A EZH2 c.683C>T p.Ser228Phe Missense 7/20 -
6-114277839-C-A HDAC2 c.302G>T p.Cys101Phe Missense 4/14 -
2-209110051-T-G IDH1 c.512A>C p.Asn171Thr Missense 5/10 -
6-114270373-C-G HDAC2 c.691G>C p.Asp231His Missense 7/14 -
7-148507440-A-G EZH2 c.2014T>C p.Phe672Leu Missense 17/20 -
2-209113152-G-A IDH1 c.355C>T p.Arg119Trp Missense 4/10 -
2-209103868-C-T IDH1 c.1081G>A p.Glu361Lys Missense 9/10 -
2-209108166-T-C IDH1 c.683A>G p.Gln228Arg Missense 6/10 -
2-209110082-C-G IDH1 c.481G>C p.Gly161Arg Missense 5/10 -
7-148525940-C-G EZH2 c.517G>C p.Glu173Gln Missense 6/20 -
2-209108305-T-C IDH1 c.544A>G p.Met182Val Missense 6/10 -
7-148514448-T-G EZH2 c.1276A>C p.Lys426Gln Missense 11/20 -
2-209110082-C-T IDH1 c.481G>A p.Gly161Arg Missense 5/10 -
2-25464459-C-A DNMT3A c.2054G>T p.Gly685Val Missense 17/23 -
2-25462022-C-G DNMT3A c.2385G>C p.Trp795Cys Missense 20/23 -
7-148507438-G-T EZH2 c.2016C>A p.Phe672Leu Missense 17/20 -
2-25469534-C-A DNMT3A c.1234G>T p.Gly412Trp Missense 10/23 -
6-114262899-T-A HDAC2 c.1409A>T p.Asn470Ile Missense 13/14 -
2-209104689-A-T IDH1 c.889T>A p.Cys297Ser Missense 8/10 -
2-209108256-T-G IDH1 c.593A>C p.Gln198Pro Missense 6/10 -
20-31376758-G-C DNMT3B c.753G>C p.Lys251Asn Missense 7/23 -
20-31376758-G-T DNMT3B c.753G>T p.Lys251Asn Missense 7/23 -
2-209103872-C-A IDH1 c.1077G>T p.Leu359Phe Missense 9/10 -
2-25458581-C-T DNMT3A c.2592G>A p.Met864Ile Missense 22/23 -
2-25458581-C-A DNMT3A c.2592G>T p.Met864Ile Missense 22/23 -
2-25464454-C-A DNMT3A c.2059G>T p.Val687Phe Missense 17/23 -
2-209101832-T-C IDH1 c.1216A>G p.Lys406Glu Missense 10/10 -
2-25463286-C-T DNMT3A c.2207G>A p.Arg736His Missense 19/23 -
6-114262912-T-G HDAC2 c.1396A>C p.Lys466Gln Missense 13/14 -
2-25471091-T-C DNMT3A c.670A>G p.Met224Val Missense 7/23 -
6-114274557-C-T HDAC2 c.523G>A p.Asp175Asn Missense 6/14 -
2-209108325-C-A IDH1 c.524G>T p.Gly175Val Missense 6/10 -
2-25463556-G-A DNMT3A c.2126C>T p.Pro709Leu Missense 18/23 -
2-25470495-A-C DNMT3A c.979T>G p.Trp327Gly Missense 8/23 -
2-209104660-C-A IDH1 c.918G>T p.Glu306Asp Missense 8/10 -
2-209108322-CC-AA IDH1 c.526_527delGGinsAA p.Gly176Asn Missense 6/10 -
2-25467197-C-A DNMT3A c.1678G>T p.Val560Leu Missense 15/23 -
2-25467197-C-G DNMT3A c.1678G>C p.Val560Leu Missense 15/23 -
2-25467188-C-T DNMT3A c.1687G>A p.Val563Met Missense 15/23 -
2-25462022-C-A DNMT3A c.2385G>T p.Trp795Cys Missense 20/23 -
6-114277837-G-C HDAC2 c.304C>G p.Pro102Ala Missense 4/14 -
7-148507438-G-C EZH2 c.2016C>G p.Phe672Leu Missense 17/20 -
2-25523108-C-A DNMT3A c.77G>T p.Gly26Val Missense 3/23 -
2-25468186-C-T DNMT3A c.1490G>A p.Cys497Tyr Missense 13/23 -
7-148526910-G-A EZH2 c.394C>T p.Pro132Ser Missense 5/20 -
2-209113272-C-T IDH1 c.235G>A p.Asp79Asn Missense 4/10 -
6-114281109-C-A HDAC2 c.126G>T p.Leu42Phe Missense 2/14 -
6-114281109-C-G HDAC2 c.126G>C p.Leu42Phe Missense 2/14 -
2-25463319-T-A DNMT3A c.2174A>T p.Glu725Val Missense 19/23 -
2-25471018-T-C DNMT3A c.743A>G p.Gln248Arg Missense 7/23 -
2-25458581-C-G DNMT3A c.2592G>C p.Met864Ile Missense 22/23 -
2-25497823-C-G DNMT3A c.626G>C p.Arg209Pro Missense 6/23 -
7-148512615-T-C EZH2 c.1529A>G p.Lys510Arg Missense 13/20 -
2-25505524-C-T DNMT3A c.234G>A p.Met78Ile Missense 4/23 -
7-148526856-T-C EZH2 c.448A>G p.Ile150Val Missense 5/20 -
2-25463289-T-C DNMT3A c.2204A>G p.Tyr735Cys Missense 19/23 -
2-25463289-T-A DNMT3A c.2204A>T p.Tyr735Phe Missense 19/23 -
2-25470512-G-A DNMT3A c.962C>T p.Ala321Val Missense 8/23 -
2-25462032-C-T DNMT3A c.2375G>A p.Arg792His Missense 20/23 -
2-25505524-C-G DNMT3A c.234G>C p.Met78Ile Missense 4/23 -
2-25505524-C-A DNMT3A c.234G>T p.Met78Ile Missense 4/23 -
2-25463536-C-A DNMT3A c.2146G>T p.Val716Phe Missense 18/23 -
7-148544276-T-C EZH2 c.115A>G p.Lys39Glu Missense 2/20 -
2-25470497-C-G DNMT3A c.977G>C p.Arg326Pro Missense 8/23 -
2-209104708-C-T IDH1 c.870G>A p.Met290Ile Missense 8/10 -
2-209104708-C-A IDH1 c.870G>T p.Met290Ile Missense 8/10 -
7-148529750-C-A EZH2 c.339G>T p.Trp113Cys Missense 4/20 -
2-209104708-C-G IDH1 c.870G>C p.Met290Ile Missense 8/10 -
7-148524307-G-A EZH2 c.677C>T p.Ala226Val Missense 7/20 -
2-25466816-C-A DNMT3A c.1887G>T p.Glu629Asp Missense 16/23 -
2-209113362-G-A IDH1 c.145C>T p.Arg49Cys Missense 4/10 -
2-25457243-G-A DNMT3A c.2644C>T p.Arg882Cys Missense 23/23 -
2-25463271-G-A DNMT3A c.2222C>T p.Ala741Val Missense 19/23 -
2-25471001-C-G DNMT3A c.760G>C p.Ala254Pro Missense 7/23 -
2-209104681-A-C IDH1 c.897T>G p.Asp299Glu Missense 8/10 -
2-25469567-C-G DNMT3A c.1201G>C p.Val401Leu Missense 10/23 -
2-25468195-C-G DNMT3A c.1481G>C p.Cys494Ser Missense 13/23 -
7-148529750-C-G EZH2 c.339G>C p.Trp113Cys Missense 4/20 -
2-209113190-G-A IDH1 c.317C>T p.Thr106Met Missense 4/10 -
2-25470597-C-A DNMT3A c.877G>T p.Gly293Trp Missense 8/23 -
2-209116175-T-C IDH1 c.101A>G p.Tyr34Cys Missense 3/10 -
2-25523040-C-T DNMT3A c.145G>A p.Gly49Arg Missense 3/23 -
2-25523040-C-G DNMT3A c.145G>C p.Gly49Arg Missense 3/23 -
2-25467478-T-C DNMT3A c.1598A>G p.Tyr533Cys Missense 14/23 -
2-25463256-C-A DNMT3A c.2237G>T p.Gly746Val Missense 19/23 -
2-209113181-C-T IDH1 c.326G>A p.Arg109Lys Missense 4/10 -
7-148507502-A-G EZH2 c.1952T>C p.Ile651Thr Missense 17/20 -
2-25463206-C-A DNMT3A c.2287G>T p.Val763Phe Missense 19/23 -
2-209103840-C-T IDH1 c.1109G>A p.Gly370Asp Missense 9/10 -
2-209106723-G-A IDH1 c.845C>T p.Ala282Val Missense 7/10 -
7-148543650-G-A EZH2 c.158C>T p.Thr53Met Missense 3/20 -
2-25463511-T-C DNMT3A c.2171A>G p.Tyr724Cys Missense 18/23 -
2-209108272-C-A IDH1 c.577G>T p.Ala193Ser Missense 6/10 -
2-209108273-A-C IDH1 c.576T>G p.Phe192Leu Missense 6/10 -
2-209108273-A-T IDH1 c.576T>A p.Phe192Leu Missense 6/10 -
2-209110083-G-T IDH1 c.480C>A p.Asp160Glu Missense 5/10 -
6-114264527-C-T HDAC2 c.1366G>A p.Asp456Asn Missense 12/14 -