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
ENST00000338415 [[37571716, 37571994], [37579931, 37580078], [37586722, 37587001], [37594374, 37594551], [37596827, 37596927], [37599498, 37599615], [37599824, 37600465]] [[37571874, 37571994], [37579931, 37580078], [37586722, 37587001], [37594374, 37594551], [37596827, 37596927], [37599498, 37599615], [37599824, 37599970]]
ENST00000404976 [[37571736, 37571994], [37586722, 37587001], [37594374, 37594551], [37596827, 37596927], [37599498, 37599615], [37599824, 37599885]] [[37571874, 37571994], [37586722, 37587001], [37594374, 37594551], [37596827, 37596927], [37599498, 37599615], [37599824, 37599885]]
ENST00000537448 [[37571851, 37571994], [37586722, 37587001], [37594374, 37594551], [37596827, 37596927], [37599498, 37599615], [37599824, 37600464]] [[37571874, 37571994], [37586722, 37587001], [37594374, 37594551], [37596827, 37596927], [37599498, 37599615], [37599824, 37599970]]
ENST00000470075 [[37571870, 37571994], [37579931, 37580078], [37585963, 37586031], [37586722, 37587196]] None
ENST00000480050 [[37585854, 37586031], [37586722, 37587001], [37594374, 37594551], [37596827, 37596845]] None
ENST00000469098 [[37594265, 37594551], [37596827, 37596927], [37599498, 37599615], [37599824, 37600173]] None
ENST00000444022 [[37595423, 37595802], [37596827, 37596927], [37599498, 37599615], [37599824, 37599942]] [[37595784, 37595802], [37596827, 37596927], [37599498, 37599615], [37599824, 37599942]]
NM_012413 [[37571752, 37571994], [37579931, 37580078], [37586722, 37587001], [37594374, 37594551], [37596827, 37596927], [37599498, 37599615], [37599824, 37600465]] [[37571874, 37571994], [37579931, 37580078], [37586722, 37587001], [37594374, 37594551], [37596827, 37596927], [37599498, 37599615], [37599824, 37599970]]
Promoter
Chrom Start End Description
chr2 37571765 37571779 CAGE_peak_3_at_QPCT_5end
chr2 37571802 37571814 CAGE_peak_4_at_QPCT_5end
chr2 37571815 37571841 CAGE_peak_2_at_QPCT_5end
chr2 37571845 37571874 CAGE_peak_1_at_QPCT_5end
chr2 37579926 37579956 CAGE_peak_6_at_QPCT_5end
chr2 37594367 37594376 CAGE_peak_12_at_QPCT_5end
chr2 37594377 37594388 CAGE_peak_10_at_QPCT_5end
chr2 37594397 37594409 CAGE_peak_5_at_QPCT_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I037822 37822478 37823843 1.44 [{'connected_gene': 'QPCT', 'score': 3.36}, {'connected_gene': 'CDC42EP3', 'score': 3.2}, {'connected_gene': 'LOC344382', 'score': 0.44}, {'connected_gene': 'LINC00211', 'score': 0.23}]
chr2 GH02I037760 37760201 37763000 0.61 [{'connected_gene': 'QPCT', 'score': 17.26}, {'connected_gene': 'CDC42EP3', 'score': 14.96}, {'connected_gene': 'ENSG00000236572', 'score': 0.37}, {'connected_gene': 'GC02M037793', 'score': 0.29}]
chr2 GH02I037386 37386738 37388807 0.66 [{'connected_gene': 'QPCT', 'score': 10.87}, {'connected_gene': 'LOC101929542', 'score': 10.78}, {'connected_gene': 'PRKD3', 'score': 10.78}, {'connected_gene': 'RNU6-939P', 'score': 10.42}, {'connected_gene': 'RMDN2', 'score': 9.76}, {'connected_gene': 'GC02P037427', 'score': 0.28}]
chr2 GH02I037387 37386364 37386473 0.2 [{'connected_gene': 'QPCT', 'score': 10.87}, {'connected_gene': 'LOC101929542', 'score': 10.78}, {'connected_gene': 'PRKD3', 'score': 10.78}, {'connected_gene': 'RNU6-939P', 'score': 10.43}, {'connected_gene': 'RMDN2', 'score': 9.76}, {'connected_gene': 'GC02P037427', 'score': 0.28}]
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 GH02I037371 37371345 37372678 0.38 [{'connected_gene': 'QPCT', 'score': 0.31}, {'connected_gene': 'GC02P037427', '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 GH02I037375 37375877 37379187 1.64 [{'connected_gene': 'PRKD3', 'score': 11.02}, {'connected_gene': 'LOC101929542', 'score': 11.02}, {'connected_gene': 'RNU6-939P', 'score': 10.88}, {'connected_gene': 'CDC42EP3', 'score': 9.36}, {'connected_gene': 'RMDN2', 'score': 9.25}, {'connected_gene': 'CYP1B1', 'score': 9.16}, {'connected_gene': 'QPCT', 'score': 3.53}, {'connected_gene': 'GPATCH11', 'score': 1.4}, {'connected_gene': 'GC02P037427', 'score': 0.25}]
chr2 GH02I037395 37395801 37396401 1.11 [{'connected_gene': 'RNU6-939P', 'score': 10.24}, {'connected_gene': 'GC02P037427', 'score': 0.31}, {'connected_gene': 'QPCT', 'score': 0.23}]
chr2 GH02I037379 37379583 37380652 0.63 [{'connected_gene': 'RNU6-939P', 'score': 11.14}, {'connected_gene': 'LOC101929542', 'score': 11.01}, {'connected_gene': 'PRKD3', 'score': 11.01}, {'connected_gene': 'CDC42EP3', 'score': 9.36}, {'connected_gene': 'RMDN2', 'score': 9.25}, {'connected_gene': 'CYP1B1', 'score': 9.16}, {'connected_gene': 'QPCT', 'score': 0.28}, {'connected_gene': 'GC02P037427', 'score': 0.26}]
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 GH02I037416 37416727 37418317 0.4 [{'connected_gene': 'CDC42EP3', 'score': 10.37}, {'connected_gene': 'GC02P037427', 'score': 0.44}, {'connected_gene': 'QPCT', 'score': 0.19}]
chr2 GH02I037414 37414538 37415801 1.02 [{'connected_gene': 'CDC42EP3', 'score': 10.24}, {'connected_gene': 'GC02P037427', 'score': 0.44}, {'connected_gene': 'QPCT', 'score': 0.19}]
chr2 GH02I037664 37664157 37673307 2.63 [{'connected_gene': 'CDC42EP3', 'score': 573.68}, {'connected_gene': 'LOC105374464', 'score': 11.26}, {'connected_gene': 'QPCT', 'score': 5.98}, {'connected_gene': 'CYP1B1', 'score': 1.65}, {'connected_gene': 'GC02P037671', 'score': 0.77}, {'connected_gene': 'GC02M037562', 'score': 0.14}, {'connected_gene': 'GC02P037427', 'score': 0.07}]
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 GH02I037396 37395164 37395439 0.47 [{'connected_gene': 'LOC101929542', 'score': 10.51}, {'connected_gene': 'PRKD3', 'score': 10.51}, {'connected_gene': 'RNU6-939P', 'score': 10.51}, {'connected_gene': 'CYP1B1', 'score': 10.02}, {'connected_gene': 'GC02P037427', 'score': 0.31}, {'connected_gene': 'QPCT', 'score': 0.23}]
chr2 GH02I037361 37361478 37361627 0.2 [{'connected_gene': 'LOC101929542', 'score': 11.98}, {'connected_gene': 'PRKD3', 'score': 11.98}, {'connected_gene': 'RNU6-939P', 'score': 11.56}, {'connected_gene': 'CEBPZ', 'score': 10.12}, {'connected_gene': 'NDUFAF7', 'score': 10.12}, {'connected_gene': 'QPCT', 'score': 0.37}, {'connected_gene': 'GC02P037427', 'score': 0.21}]
chr2 GH02I037351 37351158 37351307 0.86 [{'connected_gene': 'LOC101929542', 'score': 11.92}, {'connected_gene': 'PRKD3', 'score': 11.92}, {'connected_gene': 'CEBPZOS', 'score': 9.5}, {'connected_gene': 'NDUFAF7', 'score': 5.13}, {'connected_gene': 'QPCT', 'score': 0.44}, {'connected_gene': 'GC02P037427', 'score': 0.19}]
chr2 GH02I037317 37317700 37319187 1.07 [{'connected_gene': 'CEBPZOS', 'score': 16.84}, {'connected_gene': 'QPCT', 'score': 11.45}, {'connected_gene': 'PRKD3', 'score': 0.44}, {'connected_gene': 'GC02M037305', 'score': 0.44}]
chr2 GH02I037349 37349132 37350287 1.39 [{'connected_gene': 'CEBPZOS', 'score': 14.61}, {'connected_gene': 'PRKD3', 'score': 13.32}, {'connected_gene': 'LOC101929542', 'score': 11.94}, {'connected_gene': 'NDUFAF7', 'score': 5.13}, {'connected_gene': 'HEATR5B', 'score': 3.41}, {'connected_gene': 'STRN', 'score': 2.11}, {'connected_gene': 'QPCT', 'score': 2.07}, {'connected_gene': 'GC02P037427', 'score': 0.19}]
chr2 GH02I037330 37330910 37339199 0.6 [{'connected_gene': 'CEBPZOS', 'score': 17.75}, {'connected_gene': 'CEBPZ', 'score': 8.59}, {'connected_gene': 'PRKD3', 'score': 6.24}, {'connected_gene': 'NDUFAF7', 'score': 5.5}, {'connected_gene': 'GC02M037332', 'score': 0.77}, {'connected_gene': 'RNU6-939P', 'score': 0.77}, {'connected_gene': 'QPCT', 'score': 0.44}]