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
ENST00000389202 [[31404632, 31404712], [31405556, 31405662], [31408679, 31408783], [31408916, 31408987], [31409115, 31409230], [31413435, 31413566], [31414820, 31414966], [31418835, 31418989], [31419086, 31419237], [31419745, 31419819], [31421715, 31421845], [31422056, 31422199], [31422396, 31422537], [31422628, 31422838], [31424158, 31424289], [31424409, 31424567], [31425771, 31425926], [31426180, 31426312], [31427533, 31427607], [31427825, 31427967], [31429395, 31429512], [31429621, 31429701], [31429801, 31429885], [31434434, 31434513], [31434672, 31434780], [31434891, 31434969], [31435165, 31435279], [31435422, 31435524], [31435787, 31435898], [31437335, 31437826]] [[31404681, 31404712], [31405556, 31405662], [31408679, 31408783], [31408916, 31408987], [31409115, 31409230], [31413435, 31413566], [31414820, 31414966], [31418835, 31418989], [31419086, 31419237], [31419745, 31419819], [31421715, 31421845], [31422056, 31422199], [31422396, 31422537], [31422628, 31422838], [31424158, 31424289], [31424409, 31424567], [31425771, 31425926], [31426180, 31426312], [31427533, 31427607], [31427825, 31427967], [31429395, 31429512], [31429621, 31429701], [31429801, 31429885], [31434434, 31434513], [31434672, 31434780], [31434891, 31434969], [31435165, 31435279], [31435422, 31435524], [31435787, 31435898], [31437335, 31437449]]
ENST00000444228 [[31404655, 31404712], [31405556, 31405662], [31408679, 31408783], [31408916, 31408987], [31409115, 31409230], [31413435, 31413566], [31414820, 31414966], [31418835, 31419237], [31419745, 31419940]] None
ENST00000567308 [[31435262, 31435524], [31435787, 31436036]] None
NM_005353 [[31404632, 31404712], [31405556, 31405662], [31408679, 31408783], [31408916, 31408987], [31409115, 31409230], [31413435, 31413566], [31414820, 31414966], [31418835, 31418989], [31419086, 31419237], [31419745, 31419819], [31421715, 31421845], [31422056, 31422199], [31422396, 31422537], [31422628, 31422838], [31424158, 31424289], [31424409, 31424567], [31425771, 31425926], [31426180, 31426312], [31427533, 31427607], [31427825, 31427967], [31429395, 31429512], [31429621, 31429701], [31429801, 31429885], [31434434, 31434513], [31434672, 31434780], [31434891, 31434969], [31435165, 31435279], [31435422, 31435524], [31435787, 31435898], [31437335, 31437826]] [[31404681, 31404712], [31405556, 31405662], [31408679, 31408783], [31408916, 31408987], [31409115, 31409230], [31413435, 31413566], [31414820, 31414966], [31418835, 31418989], [31419086, 31419237], [31419745, 31419819], [31421715, 31421845], [31422056, 31422199], [31422396, 31422537], [31422628, 31422838], [31424158, 31424289], [31424409, 31424567], [31425771, 31425926], [31426180, 31426312], [31427533, 31427607], [31427825, 31427967], [31429395, 31429512], [31429621, 31429701], [31429801, 31429885], [31434434, 31434513], [31434672, 31434780], [31434891, 31434969], [31435165, 31435279], [31435422, 31435524], [31435787, 31435898], [31437335, 31437449]]
NM_001318185 [[31404632, 31404712], [31405556, 31405662], [31408679, 31408783], [31408916, 31408987], [31409115, 31409230], [31413435, 31413566], [31414820, 31414966], [31418835, 31418989], [31419086, 31419237], [31419745, 31419819], [31421715, 31421845], [31422056, 31422199], [31422396, 31422537], [31422625, 31422838], [31424158, 31424289], [31424409, 31424567], [31425771, 31425926], [31426180, 31426312], [31427533, 31427607], [31427825, 31427967], [31429395, 31429512], [31429621, 31429701], [31429801, 31429885], [31434434, 31434513], [31434672, 31434780], [31434891, 31434969], [31435165, 31435279], [31435422, 31435524], [31435787, 31435898], [31437335, 31437826]] [[31404681, 31404712], [31405556, 31405662], [31408679, 31408783], [31408916, 31408987], [31409115, 31409230], [31413435, 31413566], [31414820, 31414966], [31418835, 31418989], [31419086, 31419237], [31419745, 31419819], [31421715, 31421845], [31422056, 31422199], [31422396, 31422537], [31422625, 31422838], [31424158, 31424289], [31424409, 31424567], [31425771, 31425926], [31426180, 31426312], [31427533, 31427607], [31427825, 31427967], [31429395, 31429512], [31429621, 31429701], [31429801, 31429885], [31434434, 31434513], [31434672, 31434780], [31434891, 31434969], [31435165, 31435279], [31435422, 31435524], [31435787, 31435898], [31437335, 31437449]]
Promoter
Chrom Start End Description
chr16 31404624 31404632 CAGE_peak_3_at_ITGAD_5end
chr16 31404650 31404662 CAGE_peak_1_at_ITGAD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I031507 31507099 31510396 2.09 [{'connected_gene': 'C16orf58', 'score': 570.47}, {'connected_gene': 'GC16P031508', 'score': 550.77}, {'connected_gene': 'ENSG00000260625', 'score': 550.77}, {'connected_gene': 'PIR61516', 'score': 550.77}, {'connected_gene': 'RNF40', 'score': 21.16}, {'connected_gene': 'ENSG00000260267', 'score': 19.82}, {'connected_gene': 'SETD1A', 'score': 16.36}, {'connected_gene': 'ZNF720', 'score': 13.53}, {'connected_gene': 'FUS', 'score': 13.45}, {'connected_gene': 'SRCAP', 'score': 13.25}, {'connected_gene': 'ZNF764', 'score': 13.23}, {'connected_gene': 'STX4', 'score': 12.49}, {'connected_gene': 'ZNF785', 'score': 12.41}, {'connected_gene': 'ENSG00000261474', 'score': 12.02}, {'connected_gene': 'ZNF747', 'score': 11.34}, {'connected_gene': 'MIR762HG', 'score': 10.87}, {'connected_gene': 'PRR14', 'score': 10.77}, {'connected_gene': 'ARMC5', 'score': 10.2}, {'connected_gene': 'FBRS', 'score': 9.96}, {'connected_gene': 'ZNF689', 'score': 9.94}, {'connected_gene': 'LINC02190', 'score': 6.1}, {'connected_gene': 'ITGAD', 'score': 5.24}, {'connected_gene': 'TGFB1I1', 'score': 4.29}, {'connected_gene': 'ENSG00000235560', 'score': 4.12}]
chr16 GH16I031393 31393209 31393268 0.86 [{'connected_gene': 'ITGAD', 'score': 570.2}, {'connected_gene': 'GC16P031393', 'score': 550.77}, {'connected_gene': 'GC16M031380', 'score': 0.44}]
chr16 GH16I031404 31404146 31405309 1.06 [{'connected_gene': 'COX6A2', 'score': 12.93}, {'connected_gene': 'ARMC5', 'score': 11.09}, {'connected_gene': 'PRSS8', 'score': 11.08}, {'connected_gene': 'PRSS36', 'score': 11.05}, {'connected_gene': 'PYCARD', 'score': 10.54}, {'connected_gene': 'STX4', 'score': 10.18}, {'connected_gene': 'STX1B', 'score': 10.0}, {'connected_gene': 'ENSG00000260740', 'score': 9.61}, {'connected_gene': 'ENSG00000260757', 'score': 0.77}, {'connected_gene': 'ITGAD', 'score': 0.39}, {'connected_gene': 'ENSG00000277543', 'score': 0.34}]
chr16 GH16I031399 31399801 31400600 0.46 [{'connected_gene': 'COX6A2', 'score': 12.9}, {'connected_gene': 'PRSS8', 'score': 11.08}, {'connected_gene': 'ARMC5', 'score': 11.08}, {'connected_gene': 'PRSS36', 'score': 11.05}, {'connected_gene': 'PYCARD', 'score': 10.54}, {'connected_gene': 'STX4', 'score': 10.18}, {'connected_gene': 'STX1B', 'score': 10.0}, {'connected_gene': 'ENSG00000260740', 'score': 7.39}, {'connected_gene': 'ENSG00000260757', 'score': 0.77}, {'connected_gene': 'ITGAD', 'score': 0.44}, {'connected_gene': 'GC16P031393', 'score': 0.44}]
chr16 GH16I031385 31385840 31385989 0.43 [{'connected_gene': 'GC16M031380', 'score': 550.77}, {'connected_gene': 'ITGAX', 'score': 11.91}, {'connected_gene': 'PYCARD', 'score': 11.53}, {'connected_gene': 'COX6A2', 'score': 11.52}, {'connected_gene': 'HSD3B7', 'score': 10.76}, {'connected_gene': 'SETD1A', 'score': 10.76}, {'connected_gene': 'PRSS36', 'score': 10.7}, {'connected_gene': 'STX4', 'score': 10.31}, {'connected_gene': 'STX1B', 'score': 10.27}, {'connected_gene': 'ITGAD', 'score': 0.44}]
chr16 GH16I031386 31386167 31387101 0.93 [{'connected_gene': 'GC16M031380', 'score': 550.77}, {'connected_gene': 'ITGAX', 'score': 11.91}, {'connected_gene': 'PYCARD', 'score': 11.53}, {'connected_gene': 'COX6A2', 'score': 11.52}, {'connected_gene': 'HSD3B7', 'score': 10.76}, {'connected_gene': 'SETD1A', 'score': 10.76}, {'connected_gene': 'PRSS36', 'score': 10.7}, {'connected_gene': 'STX4', 'score': 10.31}, {'connected_gene': 'STX1B', 'score': 10.27}, {'connected_gene': 'ENSG00000260740', 'score': 10.18}, {'connected_gene': 'CLUHP3', 'score': 3.94}, {'connected_gene': 'ITGAD', 'score': 0.44}]
chr16 GH16I031421 31421720 31421849 0.67 [{'connected_gene': 'ENSG00000277543', 'score': 0.44}, {'connected_gene': 'ENSG00000260757', 'score': 0.37}, {'connected_gene': 'ITGAD', 'score': 0.31}]
chr16 GH16I031484 31483950 31485672 1.04 [{'connected_gene': 'ENSG00000260740', 'score': 23.35}, {'connected_gene': 'ZNF843', 'score': 6.31}, {'connected_gene': 'ITGAD', 'score': 4.21}, {'connected_gene': 'SLC5A2', 'score': 0.77}]