Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000381967 [[37828254, 37828435], [37831585, 37831753], [37836239, 37836346], [37839150, 37839235], [37841469, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37848916], [37850142, 37850272], [37851804, 37851994], [37857228, 37857362], [37863130, 37864558]] [[37828354, 37828435], [37831585, 37831753], [37836239, 37836346], [37839150, 37839235], [37841469, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37848916], [37850142, 37850272], [37851804, 37851994], [37857228, 37857362], [37863130, 37863233]]
ENST00000515668 [[37828329, 37828435], [37831585, 37831753], [37836239, 37836346], [37839150, 37839235], [37841138, 37841305], [37841469, 37841553], [37841687, 37841881], [37847253, 37847351], [37848551, 37848957]] [[37828354, 37828435], [37831585, 37831753], [37836239, 37836346], [37839150, 37839235], [37841138, 37841285]]
ENST00000505986 [[37828340, 37828435], [37831585, 37831753], [37836239, 37836346], [37839150, 37839235], [37841138, 37841305], [37841469, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37849099]] [[37828354, 37828435], [37831585, 37831753], [37836239, 37836346], [37839150, 37839235], [37841138, 37841285]]
ENST00000544359 [[37828340, 37828435], [37831585, 37831753], [37836239, 37836346], [37839150, 37839235], [37841138, 37841305], [37841469, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37849099]] [[37841281, 37841305], [37841469, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37848927]]
ENST00000537241 [[37828342, 37828435], [37831585, 37831753], [37841479, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37848916], [37850142, 37850272], [37851804, 37851994], [37857228, 37857362], [37863130, 37863634]] [[37841508, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37848916], [37850142, 37850272], [37851804, 37851994], [37857228, 37857362], [37863130, 37863233]]
ENST00000512556 [[37828342, 37828435], [37831585, 37831753], [37841479, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37848916], [37850142, 37850272], [37851804, 37851994], [37857228, 37857362], [37863130, 37863634]] [[37828354, 37828435], [37831585, 37831753], [37841479, 37841491]]
ENST00000510084 [[37848660, 37848732], [37848822, 37848916], [37857228, 37857362], [37863130, 37863341]] [[37848660, 37848732], [37848822, 37848916], [37857228, 37857242]]
NM_018290 [[37828281, 37828435], [37831585, 37831753], [37836239, 37836346], [37839150, 37839235], [37841469, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37848916], [37850142, 37850272], [37851804, 37851994], [37857228, 37857362], [37863130, 37864559]] [[37828354, 37828435], [37831585, 37831753], [37836239, 37836346], [37839150, 37839235], [37841469, 37841553], [37841687, 37841881], [37845984, 37846174], [37847253, 37847351], [37848551, 37848732], [37848822, 37848916], [37850142, 37850272], [37851804, 37851994], [37857228, 37857362], [37863130, 37863233]]
Promoter
Chrom Start End Description
chr4 37828300 37828350 CAGE_peak_1_at_PGM2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I038055 38055132 38058641 0.56 [{'connected_gene': 'FAM114A1', 'score': 14.11}, {'connected_gene': 'PGM2', 'score': 10.64}, {'connected_gene': 'TLR1', 'score': 9.7}, {'connected_gene': 'MIR574', 'score': 9.69}, {'connected_gene': 'TLR6', 'score': 9.69}, {'connected_gene': 'TBC1D1', 'score': 9.6}, {'connected_gene': 'MRPS33P2', 'score': 0.25}, {'connected_gene': 'GC04P038187', 'score': 0.13}, {'connected_gene': 'PIR31939', 'score': 0.13}, {'connected_gene': 'GC04P038183', 'score': 0.13}, {'connected_gene': 'GC04P038188', 'score': 0.13}, {'connected_gene': 'GC04P038184', 'score': 0.13}]
chr4 GH04I037779 37779688 37781625 0.74 [{'connected_gene': 'RELL1', 'score': 11.26}, {'connected_gene': 'ENSG00000248936', 'score': 11.02}, {'connected_gene': 'PGM2', 'score': 10.52}, {'connected_gene': 'C4orf19', 'score': 10.05}, {'connected_gene': 'LOC105374406', 'score': 0.37}, {'connected_gene': 'GC04P037820', 'score': 0.28}]
chr4 GH04I037732 37732302 37734155 1.06 [{'connected_gene': 'RELL1', 'score': 11.38}, {'connected_gene': 'ENSG00000248936', 'score': 10.59}, {'connected_gene': 'PGM2', 'score': 10.2}, {'connected_gene': 'LOC105374404', 'score': 0.37}, {'connected_gene': 'LOC105374406', 'score': 0.31}]
chr4 GH04I037753 37753601 37755599 0.84 [{'connected_gene': 'RELL1', 'score': 15.57}, {'connected_gene': 'TBC1D1', 'score': 10.79}, {'connected_gene': 'PGM2', 'score': 1.51}, {'connected_gene': 'LOC105374406', 'score': 0.44}, {'connected_gene': 'LOC105374404', 'score': 0.28}]
chr4 GH04I037481 37481435 37487228 0.66 [{'connected_gene': 'C4orf19', 'score': 17.2}, {'connected_gene': 'ENSG00000248936', 'score': 10.48}, {'connected_gene': 'PGM2', 'score': 5.73}]
chr4 GH04I038053 38053240 38054515 0.31 [{'connected_gene': 'PGM2', 'score': 10.64}, {'connected_gene': 'FAM114A1', 'score': 9.69}, {'connected_gene': 'MIR574', 'score': 9.69}, {'connected_gene': 'TLR1', 'score': 9.69}, {'connected_gene': 'TLR6', 'score': 9.69}, {'connected_gene': 'TBC1D1', 'score': 9.59}, {'connected_gene': 'MRPS33P2', 'score': 0.25}, {'connected_gene': 'GC04P038187', 'score': 0.13}, {'connected_gene': 'PIR31939', 'score': 0.13}, {'connected_gene': 'GC04P038183', 'score': 0.13}, {'connected_gene': 'GC04P038188', 'score': 0.13}, {'connected_gene': 'GC04P038184', 'score': 0.13}]
chr4 GH04I038322 38322358 38323659 0.98 [{'connected_gene': 'PGM2', 'score': 10.38}, {'connected_gene': 'KLF3', 'score': 9.85}, {'connected_gene': 'LINC02513', 'score': 0.44}, {'connected_gene': 'LOC105374409', 'score': 0.26}]
chr4 GH04I037797 37797401 37797800 0.49 [{'connected_gene': 'PGM2', 'score': 17.94}, {'connected_gene': 'TBC1D1', 'score': 11.02}, {'connected_gene': 'RELL1', 'score': 10.5}, {'connected_gene': 'ENSG00000248936', 'score': 10.43}, {'connected_gene': 'GC04P037820', 'score': 0.34}, {'connected_gene': 'LOC105374406', 'score': 0.28}]
chr4 GH04I037802 37802179 37802328 0.76 [{'connected_gene': 'PGM2', 'score': 83.05}, {'connected_gene': 'TBC1D1', 'score': 11.16}, {'connected_gene': 'ENSG00000248936', 'score': 10.64}, {'connected_gene': 'RELL1', 'score': 10.01}, {'connected_gene': 'GC04P037820', 'score': 0.37}, {'connected_gene': 'LOC105374406', 'score': 0.26}]
chr4 GH04I037678 37678401 37679000 0.31 [{'connected_gene': 'PGM2', 'score': 10.59}, {'connected_gene': 'TBC1D1', 'score': 9.35}, {'connected_gene': 'RELL1', 'score': 0.44}, {'connected_gene': 'ENSG00000248936', 'score': 0.17}]
chr4 GH04I037681 37681769 37683760 1.04 [{'connected_gene': 'PGM2', 'score': 10.59}, {'connected_gene': 'TBC1D1', 'score': 9.46}, {'connected_gene': 'RELL1', 'score': 0.77}, {'connected_gene': 'ENSG00000248936', 'score': 0.16}]
chr4 GH04I038047 38047240 38047329 0.51 [{'connected_gene': 'PGM2', 'score': 11.0}, {'connected_gene': 'TBC1D1', 'score': 10.68}, {'connected_gene': 'TLR1', 'score': 10.39}, {'connected_gene': 'TLR6', 'score': 10.39}, {'connected_gene': 'FAM114A1', 'score': 10.39}, {'connected_gene': 'MIR574', 'score': 10.39}, {'connected_gene': 'MRPS33P2', 'score': 0.26}, {'connected_gene': 'GC04P038187', 'score': 0.12}, {'connected_gene': 'PIR31939', 'score': 0.12}, {'connected_gene': 'GC04P038183', 'score': 0.12}, {'connected_gene': 'GC04P038188', 'score': 0.12}, {'connected_gene': 'GC04P038184', 'score': 0.12}]
chr4 GH04I038049 38049982 38052311 0.94 [{'connected_gene': 'PGM2', 'score': 11.0}, {'connected_gene': 'TBC1D1', 'score': 10.67}, {'connected_gene': 'TLR1', 'score': 10.39}, {'connected_gene': 'TLR6', 'score': 10.39}, {'connected_gene': 'FAM114A1', 'score': 10.39}, {'connected_gene': 'MIR574', 'score': 10.39}, {'connected_gene': 'MRPS33P2', 'score': 0.26}, {'connected_gene': 'GC04P038187', 'score': 0.12}, {'connected_gene': 'PIR31939', 'score': 0.12}, {'connected_gene': 'GC04P038183', 'score': 0.12}, {'connected_gene': 'GC04P038188', 'score': 0.12}, {'connected_gene': 'GC04P038184', 'score': 0.12}]
chr4 GH04I038003 38002000 38002169 0.31 [{'connected_gene': 'PGM2', 'score': 10.88}, {'connected_gene': 'TBC1D1', 'score': 10.62}, {'connected_gene': 'MRPS33P2', 'score': 0.44}, {'connected_gene': 'PSME2P4', 'score': 0.44}]
chr4 GH04I038017 38017104 38018706 0.31 [{'connected_gene': 'PGM2', 'score': 10.65}, {'connected_gene': 'TBC1D1', 'score': 10.35}, {'connected_gene': 'MRPS33P2', 'score': 0.39}, {'connected_gene': 'GC04P038187', 'score': 0.1}, {'connected_gene': 'PIR31939', 'score': 0.1}, {'connected_gene': 'GC04P038183', 'score': 0.1}, {'connected_gene': 'GC04P038188', 'score': 0.1}, {'connected_gene': 'GC04P038184', 'score': 0.1}]
chr4 GH04I038015 38015775 38016808 0.51 [{'connected_gene': 'PGM2', 'score': 10.65}, {'connected_gene': 'TBC1D1', 'score': 10.35}, {'connected_gene': 'MRPS33P2', 'score': 0.44}, {'connected_gene': 'GC04P038187', 'score': 0.1}, {'connected_gene': 'PIR31939', 'score': 0.1}, {'connected_gene': 'GC04P038183', 'score': 0.1}, {'connected_gene': 'GC04P038188', 'score': 0.1}, {'connected_gene': 'GC04P038184', 'score': 0.1}]
chr4 GH04I038035 38035380 38035549 0.77 [{'connected_gene': 'PGM2', 'score': 11.79}, {'connected_gene': 'TBC1D1', 'score': 11.55}, {'connected_gene': 'MRPS33P2', 'score': 0.31}, {'connected_gene': 'GC04P038187', 'score': 0.11}, {'connected_gene': 'PIR31939', 'score': 0.11}, {'connected_gene': 'GC04P038183', 'score': 0.11}, {'connected_gene': 'GC04P038188', 'score': 0.11}, {'connected_gene': 'GC04P038184', 'score': 0.11}]
chr4 GH04I037836 37836938 37838248 0.72 [{'connected_gene': 'PGM2', 'score': 15.92}, {'connected_gene': 'TBC1D1', 'score': 11.71}, {'connected_gene': 'ENSG00000279386', 'score': 0.31}]
chr4 GH04I037810 37810131 37811508 0.56 [{'connected_gene': 'PGM2', 'score': 72.71}, {'connected_gene': 'GC04P037820', 'score': 0.44}, {'connected_gene': 'LOC105374406', 'score': 0.25}]
chr4 GH04I037815 37815895 37816660 0.58 [{'connected_gene': 'PGM2', 'score': 77.8}, {'connected_gene': 'GC04P037820', 'score': 0.77}, {'connected_gene': 'LOC105374406', 'score': 0.22}]
chr4 GH04I037812 37812392 37813507 0.46 [{'connected_gene': 'PGM2', 'score': 72.56}, {'connected_gene': 'GC04P037820', 'score': 0.44}, {'connected_gene': 'LOC105374406', 'score': 0.23}]
chr4 GH04I037007 37007917 37008887 0.92 [{'connected_gene': 'PGM2', 'score': 5.59}, {'connected_gene': 'HNRNPRP3', 'score': 5.41}, {'connected_gene': 'LOC100508631', 'score': 0.44}, {'connected_gene': 'LOC101928721', 'score': 0.2}]
chr4 GH04I037825 37825359 37828091 2.04 [{'connected_gene': 'PGM2', 'score': 628.46}, {'connected_gene': 'ENSG00000279386', 'score': 0.26}]
chr4 GH04I038661 38661400 38676314 2.61 [{'connected_gene': 'KLF3', 'score': 565.01}, {'connected_gene': 'KLF3-AS1', 'score': 29.14}, {'connected_gene': 'ENSG00000271958', 'score': 13.56}, {'connected_gene': 'RFC1', 'score': 11.52}, {'connected_gene': 'HNRNPRP3', 'score': 10.47}, {'connected_gene': 'PGM2', 'score': 10.36}, {'connected_gene': 'KLHL5', 'score': 6.14}, {'connected_gene': 'TLR6', 'score': 3.31}, {'connected_gene': 'TLR1', 'score': 3.15}, {'connected_gene': 'LOC105374413', 'score': 0.18}]
chr4 GH04I038005 38005001 38006000 0.58 [{'connected_gene': 'MRPS33P2', 'score': 550.77}, {'connected_gene': 'TBC1D1', 'score': 27.7}, {'connected_gene': 'PGM2', 'score': 10.97}, {'connected_gene': 'PSME2P4', 'score': 0.44}]
chr4 GH04I038006 38006883 38014490 1.03 [{'connected_gene': 'TBC1D1', 'score': 18.75}, {'connected_gene': 'PGM2', 'score': 10.66}, {'connected_gene': 'FAM114A1', 'score': 4.82}, {'connected_gene': 'MRPS33P2', 'score': 0.77}, {'connected_gene': 'GC04P038187', 'score': 0.09}, {'connected_gene': 'PIR31939', 'score': 0.09}, {'connected_gene': 'GC04P038183', 'score': 0.09}, {'connected_gene': 'GC04P038188', 'score': 0.09}, {'connected_gene': 'GC04P038184', 'score': 0.09}]
chr4 GH04I037981 37981134 37983866 0.83 [{'connected_gene': 'TBC1D1', 'score': 34.63}, {'connected_gene': 'PGM2', 'score': 11.08}, {'connected_gene': 'RELL1', 'score': 10.18}, {'connected_gene': 'GC04P037993', 'score': 0.39}, {'connected_gene': 'PTTG2', 'score': 0.34}]
chr4 GH04I038001 38001123 38001672 0.2 [{'connected_gene': 'TBC1D1', 'score': 18.56}, {'connected_gene': 'PGM2', 'score': 10.88}, {'connected_gene': 'MRPS33P2', 'score': 0.44}, {'connected_gene': 'PSME2P4', 'score': 0.44}]
chr4 GH04I038002 38002398 38004401 0.99 [{'connected_gene': 'TBC1D1', 'score': 28.2}, {'connected_gene': 'PGM2', 'score': 10.88}, {'connected_gene': 'MRPS33P2', 'score': 0.77}, {'connected_gene': 'PSME2P4', 'score': 0.44}]
chr4 GH04I038028 38028486 38031228 0.38 [{'connected_gene': 'TBC1D1', 'score': 16.37}, {'connected_gene': 'PGM2', 'score': 11.79}, {'connected_gene': 'MRPS33P2', 'score': 0.34}, {'connected_gene': 'GC04P038187', 'score': 0.1}, {'connected_gene': 'PIR31939', 'score': 0.1}, {'connected_gene': 'GC04P038183', 'score': 0.1}, {'connected_gene': 'GC04P038188', 'score': 0.1}, {'connected_gene': 'GC04P038184', 'score': 0.1}]
chr4 GH04I037997 37997250 37999963 0.94 [{'connected_gene': 'TBC1D1', 'score': 29.42}, {'connected_gene': 'PGM2', 'score': 10.88}, {'connected_gene': 'PSME2P4', 'score': 0.77}, {'connected_gene': 'MRPS33P2', 'score': 0.44}]
chr4 GH04I037987 37987716 37992399 1.02 [{'connected_gene': 'TBC1D1', 'score': 35.27}, {'connected_gene': 'PGM2', 'score': 10.67}, {'connected_gene': 'GC04P037993', 'score': 0.77}, {'connected_gene': 'PTTG2', 'score': 0.31}]
chr4 GH04I037970 37970401 37971218 0.94 [{'connected_gene': 'TBC1D1', 'score': 11.48}, {'connected_gene': 'PGM2', 'score': 11.09}, {'connected_gene': 'PTTG2', 'score': 0.39}, {'connected_gene': 'GC04P037993', 'score': 0.34}]
chr4 GH04I037985 37985374 37985463 0.2 [{'connected_gene': 'TBC1D1', 'score': 18.11}, {'connected_gene': 'PGM2', 'score': 11.05}, {'connected_gene': 'GC04P037993', 'score': 0.44}, {'connected_gene': 'PTTG2', 'score': 0.34}]
chr4 GH04I037830 37830759 37830908 0.49 [{'connected_gene': 'TBC1D1', 'score': 11.56}, {'connected_gene': 'PGM2', 'score': 0.77}, {'connected_gene': 'ENSG00000279386', 'score': 0.28}]
chr4 GH04I038243 38243420 38243569 0.88 [{'connected_gene': 'LOC105374408', 'score': 550.77}, {'connected_gene': 'HNRNPRP3', 'score': 21.05}, {'connected_gene': 'PGM2', 'score': 12.26}, {'connected_gene': 'FAM114A1', 'score': 10.15}, {'connected_gene': 'LOC105374409', 'score': 6.88}, {'connected_gene': 'GC04P038187', 'score': 0.22}, {'connected_gene': 'PIR31939', 'score': 0.22}, {'connected_gene': 'GC04P038183', 'score': 0.22}, {'connected_gene': 'GC04P038188', 'score': 0.22}, {'connected_gene': 'GC04P038184', 'score': 0.22}]
chr4 GH04I038327 38327802 38329600 1.05 [{'connected_gene': 'HNRNPRP3', 'score': 12.32}, {'connected_gene': 'PGM2', 'score': 12.25}, {'connected_gene': 'FAM114A1', 'score': 10.15}, {'connected_gene': 'LINC02513', 'score': 0.77}, {'connected_gene': 'LOC105374409', 'score': 0.25}]
chr4 GH04I037869 37869363 37870459 0.2 [{'connected_gene': 'HNRNPRP3', 'score': 550.77}, {'connected_gene': 'PGM2', 'score': 5.13}, {'connected_gene': 'TBC1D1', 'score': 0.34}]
chr4 GH04I037438 37438297 37443899 1.02 [{'connected_gene': 'ENSG00000248936', 'score': 10.34}, {'connected_gene': 'C4orf19', 'score': 5.9}, {'connected_gene': 'PGM2', 'score': 4.73}, {'connected_gene': 'NWD2', 'score': 0.08}]
chr4 GH04I037530 37530303 37531607 0.31 [{'connected_gene': 'ENSG00000248936', 'score': 10.81}, {'connected_gene': 'C4orf19', 'score': 10.13}, {'connected_gene': 'PGM2', 'score': 6.06}]
chr4 GH04I037864 37864346 37866600 1.04 [{'connected_gene': 'ENSG00000279386', 'score': 550.77}, {'connected_gene': 'PGM2', 'score': 24.7}, {'connected_gene': 'TBC1D1', 'score': 12.64}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.