1 | IRF6, MACF1, RBM15, SETD2, TFAP2A, ZFHX3, ZFHX4
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| Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
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| Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muņeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ
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| Am J Hum Genet. Jul 2;107(1):124-136. doi: 10.1016/j.ajhg.2020.05.018. Epub 2020 Jun 22. 2020
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2 | ACRBP, SETD2
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| The histone methyltransferase SETD2 is required for expression of acrosin-binding protein 1 and protamines and essential for spermiogenesis in mice.
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| Zuo X, Rong B, Li L, Lv R, Lan F, Tong MH.
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| J Biol Chem. Jun 15;293(24):9188-9197. doi: 10.1074/jbc.RA118.002851. Epub 2018 May 1. 2018
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3 | H2AZ1, NKX2-4, SETD2
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| Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder.
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| Shen T, Ji F, Wang Y, Lei X, Zhang D, Jiao J.
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| Nucleic Acids Res. Mar 16;46(5):2290-2307. doi: 10.1093/nar/gkx1295. 2018
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4 | MYOG, SETD2
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| Histone methyltransferase Setd2 is critical for the proliferation and differentiation of myoblasts.
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| Yi X, Tao Y, Lin X, Dai Y, Yang T, Yue X, Jiang X, Li X, Jiang DS, Andrade KC, Chang J.
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| Biochim Biophys Acta Mol Cell Res 1864(4):697-707. doi: 10.1016/j.bbamcr.2017.01.012. Epub 2017 Jan 24.
2017
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5 | ASH1L, SETD2
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| Kinetic characterization of human histone H3 lysine 36 methyltransferases, ASH1L and SETD2.
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| Eram MS, Kuznetsova E, Li F, Lima-Fernandes E, Kennedy S, Chau I, Arrowsmith CH, Schapira M, Vedadi M.
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| Biochim Biophys Acta 1850(9):1842-8. doi: 10.1016/j.bbagen.2015.05.013. Epub 2015 May 19.
2015
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6 | SETD2
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| SETD2-dependent histone H3K36 trimethylation is required for homologous recombination repair and genome stability.
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| Pfister SX, Ahrabi S, Zalmas LP, Sarkar S, Aymard F, Bachrati CZ, Helleday T, Legube G, La Thangue NB, Porter AC, Humphrey TC.
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| Cell Rep 7(6):2006-18. doi: 10.1016/j.celrep.2014.05.026. Epub 2014 Jun 12.
2014
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7 | SETD2, STOL2
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| Mutations in SETD2 cause a novel overgrowth condition.
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| Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V.
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| J Med Genet 51(8):512-7. doi: 10.1136/jmedgenet-2014-102402. Epub 2014 May 22.
2014
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8 | SETD2
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| Identification of functional cooperative mutations of SETD2 in human acute leukemia.
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| Zhu X, He F, Zeng H, Ling S, Chen A, Wang Y, Yan X, Wei W, Pang Y, Cheng H, Hua C, Zhang Y, Yang X, Lu X, Cao L, Hao L, Dong L, Zou W, Wu J, Li X, Zheng S, Yan J, Zhou J, Zhang L, Mi S, Wang X, Zhang L, Zou Y, Chen Y, Geng Z, Wang J, Zhou J, Liu X, Wang J, Yuan W, Huang G, Cheng T, Wang QF.
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| Nat Genet 46(3):287-93. doi: 10.1038/ng.2894. Epub 2014 Feb 9.
2014
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9 | SETD2, SSRP1
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| Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription.
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| Carvalho S, Raposo AC, Martins FB, Grosso AR, Sridhara SC, Rino J, Carmo-Fonseca M, de Almeida SF.
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| Nucleic Acids Res 41(5):2881-93. doi: 10.1093/nar/gks1472. Epub 2013 Jan 15.
2013
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10 | SETD2
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| Evidence for a tumour suppressor function of SETD2 in human breast cancer: a new hypothesis.
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| Newbold RF, Mokbel K.
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| Anticancer Res 30(9):3309-11.
2010
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11 | SETD2
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| The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parameters.
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| Al Sarakbi W, Sasi W, Jiang WG, Roberts T, Newbold RF, Mokbel K.
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| BMC Cancer 9:290.
2009
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12 | SETD2
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| Histone methyltransferase protein SETD2 interacts with p53 and selectively regulates its downstream genes.
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| Xie P, Tian C, An L, Nie J, Lu K, Xing G, Zhang L, He F.
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| Cell Signal 20(9):1671-8. Epub 2008 Jun 27.
2008
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13 | IWS1, SETD2, SUPT6H
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| The Iws1:Spt6:CTD complex controls cotranscriptional mRNA biosynthesis and HYPB/Setd2-mediated histone H3K36 methylation.
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| Yoh SM, Lucas JS, Jones KA.
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| Genes Dev 22(24):3422-34.PMID: 19141475 2008
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14 | SETD2
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| Solution structure of the Set2-Rpb1 interacting domain of human Set2 and its interaction with the hyperphosphorylated C-terminal domain of Rpb1.
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| Li M, Phatnani HP, Guan Z, Sage H, Greenleaf AL, Zhou P.
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| Proc Natl Acad Sci U S A 102(49):17636-41. Epub 2005 Nov 28. 2005
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15 | SETD2
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| Identification and characterization of a novel human histone H3 lysine 36-specific methyltransferase.
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| Sun XJ, Wei J, Wu XY, Hu M, Wang L, Wang HH, Zhang QH, Chen SJ, Huang QH, Chen Z.
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| J Biol Chem 280(42):35261-71. Epub 2005 Aug 22. 2005
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16 | SETD2
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| Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor.
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| Rega S, Stiewe T, Chang DI, Pollmeier B, Esche H, Bardenheuer W, Marquitan G, Putzer BM.
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| Mol Cell Neurosci 18(1):68-79. 2001
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17 | PRPF40A, SETD2, PRPF40B
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| Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.
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| Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella JF, Vonsattel JP, MacDonald ME.
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| Hum Mol Genet 9(14):2175-82. 2000
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18 | FBL, HTT, PRPF40A, SETD2
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| Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles.
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| Hilditch-Maguire P, Trettel F, Passani LA, Auerbach A, Persichetti F, MacDonald ME.
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| Hum Mol Genet 9(19):2789-97. 2000
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19 | AP2A1, AP2A2, C15orf63, CXorf27, FICD, HTT, PRPF40A, PRPF40B, SETD2, SYMPK, ZDHHC17
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| Huntingtin interacts with a family of WW domain proteins.
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| Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME.
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| Hum Mol Genet 7(9):1463-74. 1998
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