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
ENST00000233057 [[37326352, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37353431, 37353554], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374965], [37375999, 37376166], [37384050, 37384190]] [[37334415, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37353431, 37353554], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374949]]
ENST00000395127 [[37333698, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37353431, 37353554], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374965], [37375999, 37376400], [37384050, 37384190]] [[37334415, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37353431, 37353554], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374949]]
ENST00000405334 [[37334415, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374949]] [[37334415, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374949]]
ENST00000462861 [[37334488, 37334538], [37334616, 37334670], [37336336, 37336643]] None
ENST00000496059 [[37363871, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374104]] None
ENST00000411537 [[37366866, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374965], [37375999, 37376058], [37384050, 37384175]] [[37366866, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374949]]
ENST00000390013 [[37368777, 37368844], [37373995, 37374116], [37374830, 37374965], [37375999, 37376082], [37384050, 37384208]] [[37368777, 37368844], [37373995, 37374116], [37374830, 37374949]]
NM_001135652 [[37332280, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374965]] [[37334415, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374949]]
NM_002759 [[37332280, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37353431, 37353554], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374965], [37375999, 37376400], [37384050, 37384190]] [[37334415, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37353431, 37353554], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374949]]
NM_001135651 [[37332280, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37353431, 37353554], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374965], [37375999, 37376166], [37384050, 37384190]] [[37334415, 37334538], [37334616, 37334670], [37336336, 37336438], [37341873, 37342002], [37347101, 37347282], [37349648, 37349807], [37353431, 37353554], [37362626, 37362689], [37364125, 37364160], [37365412, 37365506], [37365651, 37365728], [37366773, 37366900], [37368695, 37368844], [37373995, 37374116], [37374830, 37374949]]
Promoter
Chrom Start End Description
chr2 37336382 37336397 CAGE_peak_2_at_EIF2AK2_5end
chr2 37374876 37374890 CAGE_peak_10_at_EIF2AK2_5end
chr2 37384085 37384134 CAGE_peak_1_at_EIF2AK2_5end
chr2 37384181 37384195 CAGE_peak_4_at_EIF2AK2_5end
chr2 37384235 37384249 CAGE_peak_6_at_EIF2AK2_5end
chr2 37384251 37384262 CAGE_peak_8_at_EIF2AK2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I037189 37189334 37190889 1.25 [{'connected_gene': 'EIF2AK2', 'score': 16.63}, {'connected_gene': 'NDUFAF7', 'score': 16.02}, {'connected_gene': 'CEBPZOS', 'score': 12.49}, {'connected_gene': 'CEBPZ', 'score': 11.25}, {'connected_gene': 'RPL31P16', 'score': 0.77}, {'connected_gene': 'SULT6B1', 'score': 0.44}]
chr2 GH02I037154 37154952 37158088 1.9 [{'connected_gene': 'EIF2AK2', 'score': 563.87}, {'connected_gene': 'NDUFAF7', 'score': 21.67}, {'connected_gene': 'ENSG00000272054', 'score': 12.53}, {'connected_gene': 'RPL31P16', 'score': 10.97}, {'connected_gene': 'CEBPZOS', 'score': 10.97}, {'connected_gene': 'SULT6B1', 'score': 10.95}, {'connected_gene': 'CEBPZ', 'score': 10.76}, {'connected_gene': 'ENSG00000224891', 'score': 0.44}]
chr2 GH02I037243 37243403 37244173 0.46 [{'connected_gene': 'EIF2AK2', 'score': 10.47}, {'connected_gene': 'RNU6-939P', 'score': 10.27}, {'connected_gene': 'PRKD3', 'score': 4.53}, {'connected_gene': 'PIR46347', 'score': 0.77}, {'connected_gene': 'GC02P037236', 'score': 0.44}, {'connected_gene': 'NDUFAF7', 'score': 0.39}]
chr2 GH02I037191 37191176 37192249 0.43 [{'connected_gene': 'EIF2AK2', 'score': 11.66}, {'connected_gene': 'RPL31P16', 'score': 0.77}, {'connected_gene': 'SULT6B1', 'score': 0.77}]
chr2 GH02I037181 37181095 37182670 1.09 [{'connected_gene': 'NDUFAF7', 'score': 26.06}, {'connected_gene': 'EIF2AK2', 'score': 18.05}, {'connected_gene': 'CEBPZOS', 'score': 12.21}, {'connected_gene': 'CEBPZ', 'score': 10.97}, {'connected_gene': 'RNU6-939P', 'score': 10.07}, {'connected_gene': 'SULT6B1', 'score': 6.6}, {'connected_gene': 'PRKD3', 'score': 4.91}, {'connected_gene': 'RPL31P16', 'score': 0.39}]
chr2 GH02I037168 37168201 37168607 0.91 [{'connected_gene': 'NDUFAF7', 'score': 14.53}, {'connected_gene': 'CEBPZOS', 'score': 10.73}, {'connected_gene': 'EIF2AK2', 'score': 5.73}, {'connected_gene': 'SULT6B1', 'score': 5.25}, {'connected_gene': 'RPL31P16', 'score': 0.31}]
chr2 GH02I037110 37110898 37111027 0.31 [{'connected_gene': 'HEATR5B', 'score': 12.98}, {'connected_gene': 'GPATCH11', 'score': 12.98}, {'connected_gene': 'ENSG00000224891', 'score': 0.28}, {'connected_gene': 'EIF2AK2', 'score': 0.25}]
chr2 GH02I037342 37342655 37345401 2.05 [{'connected_gene': 'QPCT', 'score': 550.77}, {'connected_gene': 'CEBPZOS', 'score': 20.97}, {'connected_gene': 'CEBPZ', 'score': 15.64}, {'connected_gene': 'EIF2AK2', 'score': 5.19}, {'connected_gene': 'NDUFAF7', 'score': 5.14}, {'connected_gene': 'PRKD3', 'score': 5.09}, {'connected_gene': 'GC02M037332', 'score': 0.39}, {'connected_gene': 'RNU6-939P', 'score': 0.39}]
chr2 GH02I037098 37098017 37099724 0.43 [{'connected_gene': 'GPATCH11', 'score': 11.7}, {'connected_gene': 'EIF2AK2', 'score': 10.72}, {'connected_gene': 'HEATR5B', 'score': 5.15}, {'connected_gene': 'CEBPZOS', 'score': 4.53}, {'connected_gene': 'ENSG00000224891', 'score': 0.25}]
chr2 GH02I037103 37103798 37103987 0.87 [{'connected_gene': 'GPATCH11', 'score': 0.37}, {'connected_gene': 'ENSG00000224891', 'score': 0.26}, {'connected_gene': 'EIF2AK2', 'score': 0.23}]
chr2 GH02I037388 37388867 37391854 1.58 [{'connected_gene': 'PRKD3', 'score': 10.97}, {'connected_gene': 'LOC101929542', 'score': 10.97}, {'connected_gene': 'QPCT', 'score': 10.86}, {'connected_gene': 'RNU6-939P', 'score': 10.77}, {'connected_gene': 'CYP1B1', 'score': 10.02}, {'connected_gene': 'RMDN2', 'score': 9.76}, {'connected_gene': 'CDC42EP3', 'score': 4.34}, {'connected_gene': 'EIF2AK2', 'score': 3.03}, {'connected_gene': 'GC02P037427', 'score': 0.29}]
chr2 GH02I037619 37619930 37620289 0.96 [{'connected_gene': 'CDC42EP3', 'score': 4.66}, {'connected_gene': 'EIF2AK2', 'score': 3.85}, {'connected_gene': 'CYP1B1', 'score': 2.56}, {'connected_gene': 'QPCT', 'score': 1.12}, {'connected_gene': 'GC02P037671', 'score': 0.23}, {'connected_gene': 'GC02M037562', 'score': 0.22}, {'connected_gene': 'LOC105374464', 'score': 0.1}, {'connected_gene': 'GC02P037427', 'score': 0.08}]
chr2 GH02I037614 37614001 37614853 1.11 [{'connected_gene': 'CDC42EP3', 'score': 5.53}, {'connected_gene': 'EIF2AK2', 'score': 2.13}, {'connected_gene': 'CYP1B1', 'score': 2.07}, {'connected_gene': 'GC02M037562', 'score': 0.23}, {'connected_gene': 'GC02P037671', 'score': 0.22}, {'connected_gene': 'LOC105374464', 'score': 0.1}, {'connected_gene': 'GC02P037427', 'score': 0.08}]
chr2 GH02I037535 37535601 37536947 1.19 [{'connected_gene': 'CDC42EP3', 'score': 4.86}, {'connected_gene': 'EIF2AK2', 'score': 2.57}, {'connected_gene': 'RMDN2', 'score': 1.57}, {'connected_gene': 'GC02M037562', 'score': 0.31}, {'connected_gene': 'LOC105374464', 'score': 0.18}, {'connected_gene': 'GC02P037427', 'score': 0.14}]
chr2 GH02I037593 37593510 37593732 0.49 [{'connected_gene': 'CDC42EP3', 'score': 12.3}, {'connected_gene': 'EIF2AK2', 'score': 1.17}, {'connected_gene': 'GC02M037562', 'score': 0.29}, {'connected_gene': 'GC02P037671', 'score': 0.18}, {'connected_gene': 'LOC105374464', 'score': 0.12}, {'connected_gene': 'GC02P037427', 'score': 0.1}]
chr2 GH02I037628 37628752 37632751 1.48 [{'connected_gene': 'CDC42EP3', 'score': 2.39}, {'connected_gene': 'EIF2AK2', 'score': 1.39}, {'connected_gene': 'GC02P037671', 'score': 0.26}, {'connected_gene': 'GC02M037562', 'score': 0.2}, {'connected_gene': 'LOC105374464', 'score': 0.1}, {'connected_gene': 'GC02P037427', 'score': 0.08}]
chr2 GH02I037582 37582331 37591137 1.56 [{'connected_gene': 'CDC42EP3', 'score': 16.91}, {'connected_gene': 'ENSG00000272054', 'score': 14.89}, {'connected_gene': 'HEATR5B', 'score': 13.19}, {'connected_gene': 'LOC105374464', 'score': 11.71}, {'connected_gene': 'PRKD3', 'score': 4.3}, {'connected_gene': 'EIF2AK2', 'score': 4.08}, {'connected_gene': 'CYP1B1', 'score': 3.53}, {'connected_gene': 'GC02M037562', 'score': 0.34}, {'connected_gene': 'GC02P037671', 'score': 0.17}, {'connected_gene': 'GC02P037427', 'score': 0.1}]
chr2 GH02I037581 37581551 37581705 0.59 [{'connected_gene': 'CDC42EP3', 'score': 12.08}, {'connected_gene': 'LOC105374464', 'score': 11.72}, {'connected_gene': 'EIF2AK2', 'score': 4.04}, {'connected_gene': 'CYP1B1', 'score': 1.25}, {'connected_gene': 'GC02M037562', 'score': 0.37}, {'connected_gene': 'GC02P037671', 'score': 0.16}, {'connected_gene': 'GC02P037427', 'score': 0.1}]
chr2 GH02I037558 37558260 37559200 1.36 [{'connected_gene': 'CDC42EP3', 'score': 15.05}, {'connected_gene': 'LOC105374464', 'score': 11.42}, {'connected_gene': 'EIF2AK2', 'score': 3.34}, {'connected_gene': 'GC02M037562', 'score': 0.77}, {'connected_gene': 'GC02P037427', 'score': 0.12}]
chr2 GH02I037569 37569566 37572434 1.52 [{'connected_gene': 'CDC42EP3', 'score': 13.68}, {'connected_gene': 'LOC105374464', 'score': 11.47}, {'connected_gene': 'PRKD3', 'score': 4.62}, {'connected_gene': 'EIF2AK2', 'score': 2.07}, {'connected_gene': 'GC02M037562', 'score': 0.44}, {'connected_gene': 'GC02P037671', 'score': 0.15}, {'connected_gene': 'GC02P037427', 'score': 0.11}]
chr2 GH02I037633 37633184 37659319 1.62 [{'connected_gene': 'CDC42EP3', 'score': 22.81}, {'connected_gene': 'LOC105374464', 'score': 11.79}, {'connected_gene': 'RNU6-939P', 'score': 9.94}, {'connected_gene': 'QPCT', 'score': 6.09}, {'connected_gene': 'EIF2AK2', 'score': 5.15}, {'connected_gene': 'CEBPZ', 'score': 4.49}, {'connected_gene': 'CYP1B1', 'score': 4.06}, {'connected_gene': 'GC02P037671', 'score': 0.31}, {'connected_gene': 'GC02M037562', 'score': 0.18}, {'connected_gene': 'GC02P037427', 'score': 0.07}]
chr2 GH02I037599 37599186 37602050 1.4 [{'connected_gene': 'LOC105374464', 'score': 10.94}, {'connected_gene': 'CDC42EP3', 'score': 5.28}, {'connected_gene': 'EIF2AK2', 'score': 5.23}, {'connected_gene': 'CYP1B1', 'score': 4.51}, {'connected_gene': 'QPCT', 'score': 1.27}, {'connected_gene': 'GC02M037562', 'score': 0.28}, {'connected_gene': 'GC02P037671', 'score': 0.19}, {'connected_gene': 'GC02P037427', 'score': 0.1}]
chr2 GH02I037622 37622685 37628301 1.52 [{'connected_gene': 'LOC105374464', 'score': 24.71}, {'connected_gene': 'CDC42EP3', 'score': 6.67}, {'connected_gene': 'EIF2AK2', 'score': 5.45}, {'connected_gene': 'LOC101929596', 'score': 4.34}, {'connected_gene': 'QPCT', 'score': 3.63}, {'connected_gene': 'CYP1B1', 'score': 3.3}, {'connected_gene': 'GC02P037671', 'score': 0.25}, {'connected_gene': 'GC02M037562', 'score': 0.21}, {'connected_gene': 'GC02P037427', 'score': 0.08}]
chr2 GH02I037615 37615024 37618357 1.57 [{'connected_gene': 'LOC105374464', 'score': 9.24}, {'connected_gene': 'CDC42EP3', 'score': 5.95}, {'connected_gene': 'QPCT', 'score': 4.75}, {'connected_gene': 'EIF2AK2', 'score': 4.73}, {'connected_gene': 'CYP1B1', 'score': 2.02}, {'connected_gene': 'GC02M037562', 'score': 0.23}, {'connected_gene': 'GC02P037671', 'score': 0.22}, {'connected_gene': 'GC02P037427', 'score': 0.08}]
chr2 GH02I037125 37125151 37126044 0.2 [{'connected_gene': 'CEBPZ', 'score': 15.47}, {'connected_gene': 'NDUFAF7', 'score': 11.15}, {'connected_gene': 'HEATR5B', 'score': 5.04}, {'connected_gene': 'ENSG00000224891', 'score': 0.34}, {'connected_gene': 'EIF2AK2', 'score': 0.29}, {'connected_gene': 'GPATCH11', 'score': 0.26}]
chr2 GH02I037201 37201378 37202236 0.49 [{'connected_gene': 'CEBPZOS', 'score': 18.3}, {'connected_gene': 'NDUFAF7', 'score': 16.42}, {'connected_gene': 'CEBPZ', 'score': 11.91}, {'connected_gene': 'EIF2AK2', 'score': 11.59}, {'connected_gene': 'SULT6B1', 'score': 0.44}, {'connected_gene': 'ENSG00000272054', 'score': 0.44}]
chr2 GH02I037195 37195878 37200901 1.71 [{'connected_gene': 'CEBPZOS', 'score': 571.35}, {'connected_gene': 'SULT6B1', 'score': 550.77}, {'connected_gene': 'CEBPZ', 'score': 20.63}, {'connected_gene': 'NDUFAF7', 'score': 16.46}, {'connected_gene': 'EIF2AK2', 'score': 11.59}, {'connected_gene': 'ENSG00000272054', 'score': 0.39}]
chr2 GH02I037118 37118672 37119588 0.56 [{'connected_gene': 'CEBPZOS', 'score': 5.89}, {'connected_gene': 'ENSG00000224891', 'score': 0.31}, {'connected_gene': 'GPATCH11', 'score': 0.29}, {'connected_gene': 'EIF2AK2', 'score': 0.28}]
chr2 GH02I037204 37204126 37207741 0.77 [{'connected_gene': 'CEBPZOS', 'score': 21.12}, {'connected_gene': 'CEBPZ', 'score': 18.77}, {'connected_gene': 'NDUFAF7', 'score': 17.36}, {'connected_gene': 'EIF2AK2', 'score': 11.58}, {'connected_gene': 'ENSG00000272054', 'score': 0.77}, {'connected_gene': 'SULT6B1', 'score': 0.44}]
chr2 GH02I037147 37147731 37147790 0.5 [{'connected_gene': 'ENSG00000224891', 'score': 550.77}, {'connected_gene': 'EIF2AK2', 'score': 550.44}, {'connected_gene': 'GPATCH11', 'score': 0.21}]
chr2 GH02I037148 37148498 37148647 0.63 [{'connected_gene': 'ENSG00000224891', 'score': 550.77}, {'connected_gene': 'EIF2AK2', 'score': 0.44}]
chr2 GH02I037560 37560192 37563991 1.71 [{'connected_gene': 'GC02M037562', 'score': 550.77}, {'connected_gene': 'ENSG00000272054', 'score': 22.6}, {'connected_gene': 'CDC42EP3', 'score': 14.49}, {'connected_gene': 'HEATR5B', 'score': 12.05}, {'connected_gene': 'LOC105374464', 'score': 11.36}, {'connected_gene': 'CEBPZ', 'score': 10.69}, {'connected_gene': 'EIF2AK2', 'score': 2.89}, {'connected_gene': 'GC02P037427', 'score': 0.12}]
chr2 GH02I037149 37149354 37150519 0.56 [{'connected_gene': 'ENSG00000224891', 'score': 550.77}, {'connected_gene': 'RPL31P16', 'score': 10.95}, {'connected_gene': 'CEBPZOS', 'score': 10.94}, {'connected_gene': 'SULT6B1', 'score': 10.94}, {'connected_gene': 'CEBPZ', 'score': 10.76}, {'connected_gene': 'NDUFAF7', 'score': 10.76}, {'connected_gene': 'EIF2AK2', 'score': 10.68}, {'connected_gene': 'STRN', 'score': 9.6}]

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