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
ENST00000442697 [[100817404, 100822309], [100824882, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100844196, 100844342], [100851606, 100851778], [100867595, 100867883]] [[100822184, 100822309], [100824882, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100844196, 100844342], [100851606, 100851778], [100867595, 100867728]]
ENST00000420137 [[100819916, 100822309], [100824882, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100844196, 100844342], [100845916, 100845972], [100848873, 100848995], [100849698, 100849774], [100851606, 100851691]] [[100849713, 100849774], [100851606, 100851691]]
ENST00000471101 [[100820552, 100822309], [100824882, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100844196, 100844342], [100845916, 100848248]] None
ENST00000334223 [[100820552, 100822309], [100824882, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100844196, 100844342], [100867595, 100867745]] [[100844337, 100844342], [100867595, 100867728]]
ENST00000455208 [[100821791, 100822309], [100824882, 100825055], [100826753, 100826863], [100827194, 100827310], [100827673, 100827754]] [[100827265, 100827310], [100827673, 100827754]]
ENST00000398991 [[100824934, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100831505, 100831532], [100844196, 100844342], [100867595, 100867752]] [[100844337, 100844342], [100867595, 100867728]]
ENST00000426476 [[100829885, 100830053], [100844196, 100844342], [100845916, 100845972], [100851606, 100851778], [100867595, 100867715]] [[100845947, 100845972], [100851606, 100851778], [100867595, 100867715]]
ENST00000474664 [[100843676, 100844342], [100851606, 100851778], [100867595, 100867717]] None
ENST00000493110 [[100844196, 100844342], [100848873, 100848995], [100851606, 100851746]] None
ENST00000471738 [[100844837, 100845034], [100845916, 100845972], [100851606, 100851778], [100867595, 100867731]] None
ENST00000469942 [[100845463, 100851778], [100867595, 100867743]] None
NM_001031723 [[100817404, 100822309], [100824882, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100844196, 100844342], [100851606, 100851778], [100867595, 100867883]] [[100822184, 100822309], [100824882, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100844196, 100844342], [100851606, 100851778], [100867595, 100867728]]
NM_001278310 [[100817404, 100822309], [100824882, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100844196, 100844342], [100867595, 100867883]] [[100822184, 100822309], [100824882, 100825055], [100826753, 100826863], [100827673, 100827768], [100829867, 100830053], [100844196, 100844342], [100867595, 100867699]]
NM_001278311 [[100844840, 100845034], [100845916, 100845972], [100851606, 100851778], [100867595, 100867883]] [[100845947, 100845972], [100851606, 100851778], [100867595, 100867728]]
Promoter
Chrom Start End Description
chr4 100867736 100867782 CAGE_peak_1_at_DNAJB14_5end
chr4 100867784 100867795 CAGE_peak_5_at_DNAJB14_5end
chr4 100867802 100867819 CAGE_peak_4_at_DNAJB14_5end
chr4 100867825 100867863 CAGE_peak_2_at_DNAJB14_5end
chr4 100867864 100867889 CAGE_peak_3_at_DNAJB14_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I099829 99829998 99837548 0.46 [{'connected_gene': 'LAMTOR3', 'score': 10.57}, {'connected_gene': 'TRMT10A', 'score': 10.5}, {'connected_gene': 'MTTP', 'score': 10.5}, {'connected_gene': 'DAPP1', 'score': 8.18}, {'connected_gene': 'DNAJB14', 'score': 7.22}, {'connected_gene': 'ENSG00000279913', 'score': 0.39}, {'connected_gene': 'LOC285556', 'score': 0.39}]
chr4 GH04I099893 99893122 99895379 1.96 [{'connected_gene': 'LAMTOR3', 'score': 550.77}, {'connected_gene': 'DNAJB14', 'score': 23.39}, {'connected_gene': 'LOC256880', 'score': 12.13}, {'connected_gene': 'H2AFZ', 'score': 12.13}, {'connected_gene': 'MTTP', 'score': 9.98}, {'connected_gene': 'TRMT10A', 'score': 9.98}, {'connected_gene': 'DAPP1', 'score': 4.18}, {'connected_gene': 'ENSG00000279913', 'score': 0.23}]
chr4 GH04I099870 99870296 99872782 0.31 [{'connected_gene': 'LAMTOR3', 'score': 22.02}, {'connected_gene': 'DAPP1', 'score': 19.55}, {'connected_gene': 'TRMT10A', 'score': 10.34}, {'connected_gene': 'MTTP', 'score': 10.34}, {'connected_gene': 'DNAJB14', 'score': 9.1}, {'connected_gene': 'ENSG00000279913', 'score': 0.31}]
chr4 GH04I100095 100095801 100096400 0.96 [{'connected_gene': 'DNAJB14', 'score': 7.6}, {'connected_gene': 'LAMTOR3', 'score': 7.21}, {'connected_gene': 'DYNLL1P6', 'score': 0.23}, {'connected_gene': 'LOC101929353', 'score': 0.16}, {'connected_gene': 'LOC256880', 'score': 0.11}]
chr4 GH04I100093 100093064 100094309 1.16 [{'connected_gene': 'DNAJB14', 'score': 8.83}, {'connected_gene': 'LAMTOR3', 'score': 7.29}, {'connected_gene': 'DYNLL1P6', 'score': 0.23}, {'connected_gene': 'LOC101929353', 'score': 0.15}, {'connected_gene': 'LOC256880', 'score': 0.11}]
chr4 GH04I100016 100016068 100016609 0.31 [{'connected_gene': 'DNAJB14', 'score': 8.41}, {'connected_gene': 'LOC644721', 'score': 0.34}, {'connected_gene': 'DYNLL1P6', 'score': 0.31}, {'connected_gene': 'LOC256880', 'score': 0.2}]
chr4 GH04I099862 99862869 99864527 0.71 [{'connected_gene': 'DNAJB14', 'score': 20.58}, {'connected_gene': 'DAPP1', 'score': 11.71}, {'connected_gene': 'LOC256880', 'score': 11.49}, {'connected_gene': 'H2AFZ', 'score': 11.49}, {'connected_gene': 'LAMTOR3', 'score': 9.89}, {'connected_gene': 'ENSG00000279913', 'score': 0.37}]
chr4 GH04I099855 99855201 99858200 1.05 [{'connected_gene': 'DNAJB14', 'score': 20.33}, {'connected_gene': 'DAPP1', 'score': 12.22}, {'connected_gene': 'LOC256880', 'score': 11.46}, {'connected_gene': 'H2AFZ', 'score': 11.46}, {'connected_gene': 'ENSG00000279913', 'score': 0.39}, {'connected_gene': 'LAMTOR3', 'score': 0.28}]
chr4 GH04I099944 99944875 99951427 2.11 [{'connected_gene': 'DNAJB14', 'score': 562.96}, {'connected_gene': 'LOC256880', 'score': 550.77}, {'connected_gene': 'H2AFZ', 'score': 550.77}, {'connected_gene': 'LAMTOR3', 'score': 10.29}, {'connected_gene': 'DAPP1', 'score': 6.41}]
chr4 GH04I099827 99827064 99828974 0.77 [{'connected_gene': 'DNAJB14', 'score': 10.68}, {'connected_gene': 'LOC256880', 'score': 10.68}, {'connected_gene': 'H2AFZ', 'score': 10.68}, {'connected_gene': 'MTTP', 'score': 10.28}, {'connected_gene': 'TRMT10A', 'score': 10.28}, {'connected_gene': 'LAMTOR3', 'score': 9.71}, {'connected_gene': 'DAPP1', 'score': 8.89}, {'connected_gene': 'LOC100507053', 'score': 5.45}, {'connected_gene': 'LOC285556', 'score': 0.44}, {'connected_gene': 'ENSG00000279913', 'score': 0.37}]
chr4 GH04I099917 99917860 99920089 0.38 [{'connected_gene': 'DNAJB14', 'score': 24.07}, {'connected_gene': 'LOC256880', 'score': 12.63}, {'connected_gene': 'H2AFZ', 'score': 12.63}, {'connected_gene': 'DAPP1', 'score': 7.97}, {'connected_gene': 'ENSG00000279098', 'score': 0.34}, {'connected_gene': 'LAMTOR3', 'score': 0.34}]
chr4 GH04I100023 100023044 100023193 0.38 [{'connected_gene': 'DNAJB14', 'score': 12.79}, {'connected_gene': 'DYNLL1P6', 'score': 0.37}, {'connected_gene': 'LOC644721', 'score': 0.29}, {'connected_gene': 'LOC256880', 'score': 0.19}]
chr4 GH04I099810 99810416 99810693 0.22 [{'connected_gene': 'MTTP', 'score': 10.88}, {'connected_gene': 'TRMT10A', 'score': 10.88}, {'connected_gene': 'LOC256880', 'score': 10.5}, {'connected_gene': 'H2AFZ', 'score': 10.5}, {'connected_gene': 'DNAJB14', 'score': 10.5}, {'connected_gene': 'DAPP1', 'score': 8.77}, {'connected_gene': 'LOC285556', 'score': 0.39}, {'connected_gene': 'ENSG00000248676', 'score': 0.09}]
chr4 GH04I099811 99811904 99812013 0.59 [{'connected_gene': 'MTTP', 'score': 10.88}, {'connected_gene': 'TRMT10A', 'score': 10.88}, {'connected_gene': 'LOC256880', 'score': 10.5}, {'connected_gene': 'H2AFZ', 'score': 10.5}, {'connected_gene': 'DNAJB14', 'score': 10.5}, {'connected_gene': 'DAPP1', 'score': 0.77}, {'connected_gene': 'LOC285556', 'score': 0.39}, {'connected_gene': 'ENSG00000248676', 'score': 0.09}]
chr4 GH04I099824 99824442 99826151 0.58 [{'connected_gene': 'H2AFZ', 'score': 11.29}, {'connected_gene': 'LOC256880', 'score': 11.28}, {'connected_gene': 'DNAJB14', 'score': 11.28}, {'connected_gene': 'MTTP', 'score': 11.03}, {'connected_gene': 'TRMT10A', 'score': 11.03}, {'connected_gene': 'LAMTOR3', 'score': 9.2}, {'connected_gene': 'DAPP1', 'score': 8.93}, {'connected_gene': 'LOC285556', 'score': 0.77}, {'connected_gene': 'ENSG00000279913', 'score': 0.37}]
chr4 GH04I099819 99819836 99823026 1.3 [{'connected_gene': 'LOC285556', 'score': 550.77}, {'connected_gene': 'DNAJB14', 'score': 17.2}, {'connected_gene': 'TRMT10A', 'score': 13.12}, {'connected_gene': 'DAPP1', 'score': 12.77}, {'connected_gene': 'H2AFZ', 'score': 12.4}, {'connected_gene': 'MTTP', 'score': 11.03}, {'connected_gene': 'LOC256880', 'score': 10.59}, {'connected_gene': 'LAMTOR3', 'score': 10.53}, {'connected_gene': 'DDIT4L', 'score': 2.39}]
chr4 GH04I099845 99845009 99848258 1.49 [{'connected_gene': 'DAPP1', 'score': 22.91}, {'connected_gene': 'TRMT10A', 'score': 12.23}, {'connected_gene': 'MTTP', 'score': 10.58}, {'connected_gene': 'LAMTOR3', 'score': 10.0}, {'connected_gene': 'DNAJB14', 'score': 8.06}, {'connected_gene': 'ENSG00000279913', 'score': 0.77}]
chr4 GH04I099814 99814898 99818958 2.23 [{'connected_gene': 'DAPP1', 'score': 564.34}, {'connected_gene': 'TRMT10A', 'score': 12.27}, {'connected_gene': 'MTTP', 'score': 10.72}, {'connected_gene': 'DNAJB14', 'score': 10.59}, {'connected_gene': 'LOC256880', 'score': 10.58}, {'connected_gene': 'H2AFZ', 'score': 10.58}, {'connected_gene': 'LAMTOR3', 'score': 6.71}, {'connected_gene': 'LOC285556', 'score': 0.44}]
chr4 GH04I099868 99868008 99868681 0.31 [{'connected_gene': 'DAPP1', 'score': 11.69}, {'connected_gene': 'DNAJB14', 'score': 11.5}, {'connected_gene': 'LOC256880', 'score': 11.5}, {'connected_gene': 'H2AFZ', 'score': 11.5}, {'connected_gene': 'ENSG00000279913', 'score': 0.34}, {'connected_gene': 'LAMTOR3', 'score': 0.31}]
chr4 GH04I099838 99838291 99839489 0.2 [{'connected_gene': 'DAPP1', 'score': 11.65}, {'connected_gene': 'MTTP', 'score': 10.34}, {'connected_gene': 'TRMT10A', 'score': 10.34}, {'connected_gene': 'LAMTOR3', 'score': 10.04}, {'connected_gene': 'DNAJB14', 'score': 9.5}, {'connected_gene': 'ENSG00000279913', 'score': 0.44}, {'connected_gene': 'LOC285556', 'score': 0.37}]
chr4 GH04I099864 99864567 99865892 0.31 [{'connected_gene': 'DAPP1', 'score': 11.71}, {'connected_gene': 'LOC256880', 'score': 11.5}, {'connected_gene': 'DNAJB14', 'score': 11.5}, {'connected_gene': 'H2AFZ', 'score': 11.49}, {'connected_gene': 'ENSG00000279913', 'score': 0.34}, {'connected_gene': 'LAMTOR3', 'score': 0.31}]
chr4 GH04I100189 100189401 100190801 1.54 [{'connected_gene': 'DDIT4L', 'score': 550.77}, {'connected_gene': 'LOC101929353', 'score': 550.77}, {'connected_gene': 'DNAJB14', 'score': 5.61}, {'connected_gene': 'LOC256880', 'score': 0.07}]
chr4 GH04I099842 99842034 99843311 1.18 [{'connected_gene': 'ENSG00000279913', 'score': 550.77}, {'connected_gene': 'DAPP1', 'score': 11.68}, {'connected_gene': 'TRMT10A', 'score': 10.34}, {'connected_gene': 'MTTP', 'score': 10.34}, {'connected_gene': 'DNAJB14', 'score': 9.29}, {'connected_gene': 'LOC285556', 'score': 0.34}]