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
ENST00000393585 [[185548849, 185550655], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559622], [185565684, 185565876], [185569618, 185569746]] [[185550589, 185550655], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559607]]
ENST00000308394 [[185548849, 185550655], [185552190, 185552311], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559622], [185569618, 185569785], [185570548, 185570629]] [[185550425, 185550655], [185552190, 185552311], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559607]]
ENST00000523916 [[185548849, 185550655], [185552190, 185552311], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559622], [185570548, 185570663]] [[185550425, 185550655], [185552190, 185552311], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559607]]
ENST00000517513 [[185550409, 185550655], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559622], [185569618, 185569785], [185570548, 185570601]] [[185550589, 185550655], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559607]]
ENST00000393588 [[185550537, 185550655], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559622], [185570548, 185570609]] [[185550589, 185550655], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559607]]
ENST00000447121 [[185553049, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559622], [185569656, 185569785], [185570548, 185570601]] [[185553049, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559607]]
NM_004346 [[185548849, 185550655], [185552190, 185552311], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559622], [185569618, 185569785], [185570548, 185570629]] [[185550425, 185550655], [185552190, 185552311], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559607]]
NM_032991 [[185548849, 185550655], [185552190, 185552311], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559622], [185570548, 185570629]] [[185550425, 185550655], [185552190, 185552311], [185552918, 185553094], [185553421, 185553550], [185556447, 185556572], [185559554, 185559607]]
Promoter
Chrom Start End Description
chr4 185570590 185570609 CAGE_peak_1_at_CASP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I184583 184583447 184584400 0.59 [{'connected_gene': 'CASP3', 'score': 5.5}, {'connected_gene': 'CENPU', 'score': 4.88}, {'connected_gene': 'LOC100129245', 'score': 0.34}, {'connected_gene': 'PIR42069', 'score': 0.29}, {'connected_gene': 'LINC02365', 'score': 0.26}]
chr4 GH04I184287 184287288 184289451 1.57 [{'connected_gene': 'CASP3', 'score': 14.51}, {'connected_gene': 'IRF2', 'score': 14.21}, {'connected_gene': 'ENSG00000251878', 'score': 11.16}, {'connected_gene': 'PRIMPOL', 'score': 10.29}, {'connected_gene': 'LINC02363', 'score': 9.68}, {'connected_gene': 'MYL12BP2', 'score': 6.1}, {'connected_gene': 'ENPP6', 'score': 5.62}, {'connected_gene': 'CENPU', 'score': 4.93}, {'connected_gene': 'LOC105377582', 'score': 0.44}, {'connected_gene': 'RN7SL28P', 'score': 0.44}]
chr4 GH04I184479 184479001 184480200 0.84 [{'connected_gene': 'CASP3', 'score': 10.47}, {'connected_gene': 'PRIMPOL', 'score': 10.46}, {'connected_gene': 'ENSG00000271646', 'score': 0.77}, {'connected_gene': 'GC04M184536', 'score': 0.22}]
chr4 GH04I184745 184745591 184749735 1.29 [{'connected_gene': 'CENPU', 'score': 14.19}, {'connected_gene': 'ENSG00000251139', 'score': 12.65}, {'connected_gene': 'ACSL1', 'score': 12.63}, {'connected_gene': 'HELT', 'score': 11.11}, {'connected_gene': 'CASP3', 'score': 10.83}, {'connected_gene': 'PRIMPOL', 'score': 10.83}, {'connected_gene': 'PIR41861', 'score': 0.44}, {'connected_gene': 'SLED1', 'score': 0.23}]
chr4 GH04I184761 184761650 184763880 0.69 [{'connected_gene': 'CENPU', 'score': 11.75}, {'connected_gene': 'ACSL1', 'score': 11.6}, {'connected_gene': 'PRIMPOL', 'score': 11.34}, {'connected_gene': 'CASP3', 'score': 11.34}, {'connected_gene': 'PIR41861', 'score': 0.34}, {'connected_gene': 'SLED1', 'score': 0.28}]
chr4 GH04I184687 184687333 184689483 0.77 [{'connected_gene': 'CENPU', 'score': 55.55}, {'connected_gene': 'PRIMPOL', 'score': 12.17}, {'connected_gene': 'CASP3', 'score': 12.17}, {'connected_gene': 'GC04P184696', 'score': 0.44}]
chr4 GH04I184309 184309887 184312124 1.47 [{'connected_gene': 'LINC02363', 'score': 9.36}, {'connected_gene': 'CASP3', 'score': 1.83}, {'connected_gene': 'IRF2', 'score': 1.46}, {'connected_gene': 'GC04P184303', 'score': 0.44}]
chr4 GH04I184342 184342058 184350884 1.74 [{'connected_gene': 'LINC02363', 'score': 21.98}, {'connected_gene': 'IRF2', 'score': 15.26}, {'connected_gene': 'ENSG00000251878', 'score': 11.29}, {'connected_gene': 'CASP3', 'score': 10.76}, {'connected_gene': 'PRIMPOL', 'score': 10.76}, {'connected_gene': 'CFAP97', 'score': 4.77}, {'connected_gene': 'ACSL1', 'score': 3.39}, {'connected_gene': 'GC04P184303', 'score': 0.26}]
chr4 GH04I184799 184799420 184801692 0.31 [{'connected_gene': 'SLED1', 'score': 550.77}, {'connected_gene': 'ACSL1', 'score': 11.23}, {'connected_gene': 'PRIMPOL', 'score': 9.66}, {'connected_gene': 'CASP3', 'score': 9.66}, {'connected_gene': 'CENPU', 'score': 4.95}, {'connected_gene': 'ENSG00000251139', 'score': 0.39}]
chr4 GH04I184796 184796123 184798298 0.43 [{'connected_gene': 'SLED1', 'score': 550.77}, {'connected_gene': 'ACSL1', 'score': 11.73}, {'connected_gene': 'PRIMPOL', 'score': 9.9}, {'connected_gene': 'CASP3', 'score': 9.9}, {'connected_gene': 'MIR3945HG', 'score': 5.86}, {'connected_gene': 'CENPU', 'score': 5.02}, {'connected_gene': 'PIR41861', 'score': 0.23}]
chr4 GH04I184280 184280197 184284698 1.59 [{'connected_gene': 'MYL12BP2', 'score': 14.28}, {'connected_gene': 'ENSG00000251878', 'score': 11.38}, {'connected_gene': 'LINC02363', 'score': 10.01}, {'connected_gene': 'ENPP6', 'score': 4.87}, {'connected_gene': 'CENPU', 'score': 4.57}, {'connected_gene': 'CASP3', 'score': 1.61}, {'connected_gene': 'IRF2', 'score': 1.49}, {'connected_gene': 'RN7SL28P', 'score': 0.77}, {'connected_gene': 'LOC105377582', 'score': 0.39}]
chr4 GH04I184313 184313115 184316570 1.52 [{'connected_gene': 'MYL12BP2', 'score': 12.21}, {'connected_gene': 'IRF2', 'score': 11.37}, {'connected_gene': 'ENSG00000251878', 'score': 11.2}, {'connected_gene': 'LINC02363', 'score': 9.84}, {'connected_gene': 'ENPP6', 'score': 6.57}, {'connected_gene': 'CASP3', 'score': 1.29}, {'connected_gene': 'GC04P184303', 'score': 0.39}]
chr4 GH04I184334 184333499 184333669 0.46 [{'connected_gene': 'MYL12BP2', 'score': 13.41}, {'connected_gene': 'ACSL1', 'score': 3.6}, {'connected_gene': 'IRF2', 'score': 2.78}, {'connected_gene': 'CASP3', 'score': 1.23}, {'connected_gene': 'LINC02363', 'score': 0.34}, {'connected_gene': 'GC04P184303', 'score': 0.29}]
chr4 GH04I184318 184318759 184320034 1.26 [{'connected_gene': 'IRF2', 'score': 12.8}, {'connected_gene': 'ENSG00000251878', 'score': 10.84}, {'connected_gene': 'CASP3', 'score': 1.38}, {'connected_gene': 'GC04P184303', 'score': 0.37}, {'connected_gene': 'LINC02363', 'score': 0.29}]
chr4 GH04I184419 184419655 184422442 1.39 [{'connected_gene': 'IRF2', 'score': 13.59}, {'connected_gene': 'CASP3', 'score': 11.21}, {'connected_gene': 'PRIMPOL', 'score': 9.84}, {'connected_gene': 'ACSL1', 'score': 1.23}, {'connected_gene': 'GC04P184432', 'score': 0.39}, {'connected_gene': 'LINC02362', 'score': 0.28}]
chr4 GH04I184470 184470627 184477334 2.53 [{'connected_gene': 'IRF2', 'score': 554.72}, {'connected_gene': 'ENSG00000271646', 'score': 550.77}, {'connected_gene': 'ENSG00000270426', 'score': 550.77}, {'connected_gene': 'TRAPPC11', 'score': 21.72}, {'connected_gene': 'PRIMPOL', 'score': 21.38}, {'connected_gene': 'CASP3', 'score': 11.75}, {'connected_gene': 'SNX25', 'score': 11.07}, {'connected_gene': 'ACSL1', 'score': 5.64}]
chr4 GH04I184265 184265302 184269283 1.66 [{'connected_gene': 'IRF2', 'score': 15.96}, {'connected_gene': 'MYL12BP2', 'score': 14.59}, {'connected_gene': 'CASP3', 'score': 12.99}, {'connected_gene': 'TRAPPC11', 'score': 12.95}, {'connected_gene': 'ENSG00000251878', 'score': 10.72}, {'connected_gene': 'PRIMPOL', 'score': 10.0}, {'connected_gene': 'LINC02363', 'score': 9.83}, {'connected_gene': 'LOC105377584', 'score': 0.77}, {'connected_gene': 'RN7SL28P', 'score': 0.39}, {'connected_gene': 'LOC105377582', 'score': 0.31}]
chr4 GH04I184416 184416177 184419357 1.41 [{'connected_gene': 'IRF2', 'score': 15.79}, {'connected_gene': 'PRIMPOL', 'score': 9.83}, {'connected_gene': 'CASP3', 'score': 9.83}, {'connected_gene': 'ACSL1', 'score': 4.19}, {'connected_gene': 'GC04P184432', 'score': 0.39}, {'connected_gene': 'LINC02362', 'score': 0.28}]
chr4 GH04I184414 184414963 184415697 0.2 [{'connected_gene': 'IRF2', 'score': 12.18}, {'connected_gene': 'PRIMPOL', 'score': 9.83}, {'connected_gene': 'CASP3', 'score': 9.83}, {'connected_gene': 'GC04P184432', 'score': 0.37}, {'connected_gene': 'LINC02362', 'score': 0.29}]
chr4 GH04I184765 184765540 184769176 0.46 [{'connected_gene': 'ACSL1', 'score': 11.62}, {'connected_gene': 'CENPU', 'score': 11.5}, {'connected_gene': 'PRIMPOL', 'score': 10.65}, {'connected_gene': 'CASP3', 'score': 10.65}, {'connected_gene': 'PIR41861', 'score': 0.34}, {'connected_gene': 'SLED1', 'score': 0.29}]
chr4 GH04I184750 184750865 184752061 0.71 [{'connected_gene': 'ACSL1', 'score': 12.63}, {'connected_gene': 'CENPU', 'score': 11.98}, {'connected_gene': 'PRIMPOL', 'score': 10.43}, {'connected_gene': 'CASP3', 'score': 10.43}, {'connected_gene': 'PIR41861', 'score': 0.44}, {'connected_gene': 'SLED1', 'score': 0.25}]
chr4 GH04I184398 184398905 184403630 1.48 [{'connected_gene': 'ACSL1', 'score': 7.81}, {'connected_gene': 'IRF2', 'score': 2.27}, {'connected_gene': 'CASP3', 'score': 1.4}, {'connected_gene': 'LINC02362', 'score': 0.37}, {'connected_gene': 'GC04P184432', 'score': 0.29}]
chr4 GH04I184794 184794712 184795799 0.51 [{'connected_gene': 'ACSL1', 'score': 11.72}, {'connected_gene': 'PRIMPOL', 'score': 9.9}, {'connected_gene': 'CASP3', 'score': 9.9}, {'connected_gene': 'CENPU', 'score': 4.97}, {'connected_gene': 'SLED1', 'score': 0.77}, {'connected_gene': 'PIR41861', 'score': 0.23}]
chr4 GH04I184807 184807395 184809000 1.73 [{'connected_gene': 'ACSL1', 'score': 550.37}, {'connected_gene': 'PRIMPOL', 'score': 9.88}, {'connected_gene': 'CASP3', 'score': 9.88}, {'connected_gene': 'ENSG00000251139', 'score': 0.44}, {'connected_gene': 'SLED1', 'score': 0.44}]
chr4 GH04I184684 184684143 184685406 1.43 [{'connected_gene': 'PRIMPOL', 'score': 28.21}, {'connected_gene': 'CASP3', 'score': 14.76}, {'connected_gene': 'CENPU', 'score': 8.73}, {'connected_gene': 'IRF2', 'score': 4.21}, {'connected_gene': 'GC04P184696', 'score': 0.39}]
chr4 GH04I184644 184644792 184651047 2.22 [{'connected_gene': 'PRIMPOL', 'score': 558.42}, {'connected_gene': 'CASP3', 'score': 550.77}, {'connected_gene': 'CENPU', 'score': 25.16}, {'connected_gene': 'ACSL1', 'score': 10.63}, {'connected_gene': 'IRF2', 'score': 10.48}, {'connected_gene': 'LINC02365', 'score': 0.34}]
chr4 GH04I184563 184563238 184564058 0.2 [{'connected_gene': 'PRIMPOL', 'score': 10.66}, {'connected_gene': 'CASP3', 'score': 10.66}, {'connected_gene': 'IRF2', 'score': 5.2}, {'connected_gene': 'LOC100129245', 'score': 0.77}, {'connected_gene': 'PIR42069', 'score': 0.23}]
chr4 GH04I184528 184528692 184529899 0.4 [{'connected_gene': 'PRIMPOL', 'score': 10.55}, {'connected_gene': 'CASP3', 'score': 10.55}, {'connected_gene': 'LINC02427', 'score': 5.57}, {'connected_gene': 'GC04M184536', 'score': 0.44}, {'connected_gene': 'ENSG00000271646', 'score': 0.23}]
chr4 GH04I184424 184424359 184434532 0.82 [{'connected_gene': 'PRIMPOL', 'score': 9.8}, {'connected_gene': 'CASP3', 'score': 9.8}, {'connected_gene': 'LINC02362', 'score': 4.97}, {'connected_gene': 'GC04P184432', 'score': 0.77}, {'connected_gene': 'ENSG00000251878', 'score': 0.77}, {'connected_gene': 'IRF2', 'score': 0.25}]
chr4 GH04I184477 184477637 184478423 0.56 [{'connected_gene': 'PRIMPOL', 'score': 10.46}, {'connected_gene': 'CASP3', 'score': 10.46}, {'connected_gene': 'ENSG00000271646', 'score': 0.77}, {'connected_gene': 'GC04M184536', 'score': 0.22}]
chr4 GH04I184692 184692469 184692746 0.22 [{'connected_gene': 'PRIMPOL', 'score': 20.38}, {'connected_gene': 'CENPU', 'score': 15.65}, {'connected_gene': 'CASP3', 'score': 12.11}, {'connected_gene': 'GC04P184696', 'score': 0.77}]
chr4 GH04I185086 185086235 185086583 0.56 [{'connected_gene': 'LOC105377588', 'score': 550.77}, {'connected_gene': 'LRP2BP', 'score': 29.12}, {'connected_gene': 'CCDC110', 'score': 21.61}, {'connected_gene': 'HELT', 'score': 11.82}, {'connected_gene': 'CASP3', 'score': 10.28}, {'connected_gene': 'PRIMPOL', 'score': 10.28}, {'connected_gene': 'LINC02436', 'score': 0.29}, {'connected_gene': 'SLC25A4', 'score': 0.22}]
chr4 GH04I184624 184624550 184628297 0.89 [{'connected_gene': 'LINC02365', 'score': 550.77}, {'connected_gene': 'CASP3', 'score': 20.9}, {'connected_gene': 'PRIMPOL', 'score': 11.4}, {'connected_gene': 'CENPU', 'score': 9.09}]
chr4 GH04I184263 184263898 184264653 1.25 [{'connected_gene': 'LOC105377584', 'score': 550.77}, {'connected_gene': 'PRIMPOL', 'score': 10.28}, {'connected_gene': 'CASP3', 'score': 10.28}, {'connected_gene': 'RPL6P16', 'score': 0.44}, {'connected_gene': 'LOC105377582', 'score': 0.31}]
chr4 GH04I184292 184292802 184294045 1.22 [{'connected_gene': 'LOC105377582', 'score': 550.77}, {'connected_gene': 'IRF2', 'score': 13.49}, {'connected_gene': 'ENSG00000251878', 'score': 11.17}, {'connected_gene': 'MYL12BP2', 'score': 11.01}, {'connected_gene': 'PRIMPOL', 'score': 10.29}, {'connected_gene': 'CASP3', 'score': 10.29}, {'connected_gene': 'RN7SL28P', 'score': 0.39}]
chr4 GH04I184899 184899601 184899800 0.83 [{'connected_gene': 'LINC01093', 'score': 558.26}, {'connected_gene': 'ACSL1', 'score': 11.66}, {'connected_gene': 'PRIMPOL', 'score': 10.05}, {'connected_gene': 'CASP3', 'score': 10.05}, {'connected_gene': 'GC04P184910', 'score': 0.39}]
chr4 GH04I184392 184392001 184394000 0.51 [{'connected_gene': 'ENSG00000251878', 'score': 12.52}, {'connected_gene': 'IRF2', 'score': 11.57}, {'connected_gene': 'PRIMPOL', 'score': 10.02}, {'connected_gene': 'CASP3', 'score': 10.02}, {'connected_gene': 'LINC02362', 'score': 0.39}, {'connected_gene': 'GC04P184432', 'score': 0.28}]
chr4 GH04I184394 184394477 184397290 0.96 [{'connected_gene': 'ENSG00000251878', 'score': 12.52}, {'connected_gene': 'IRF2', 'score': 11.58}, {'connected_gene': 'PRIMPOL', 'score': 10.02}, {'connected_gene': 'CASP3', 'score': 10.02}, {'connected_gene': 'LINC02362', 'score': 0.39}, {'connected_gene': 'GC04P184432', 'score': 0.28}]
chr4 GH04I184791 184791652 184793944 1.02 [{'connected_gene': 'ENSG00000251139', 'score': 13.06}, {'connected_gene': 'ACSL1', 'score': 13.01}, {'connected_gene': 'CASP3', 'score': 9.9}, {'connected_gene': 'PRIMPOL', 'score': 9.9}, {'connected_gene': 'MIR3945HG', 'score': 6.21}, {'connected_gene': 'CENPU', 'score': 6.09}, {'connected_gene': 'SLED1', 'score': 0.44}, {'connected_gene': 'PIR41861', 'score': 0.23}]
chr4 GH04I184456 184456143 184460521 0.57 [{'connected_gene': 'GC04M184456', 'score': 550.77}, {'connected_gene': 'ENSG00000251878', 'score': 11.61}, {'connected_gene': 'PRIMPOL', 'score': 10.25}, {'connected_gene': 'CASP3', 'score': 10.25}, {'connected_gene': 'ENSG00000270426', 'score': 0.39}, {'connected_gene': 'IRF2', 'score': 0.37}]

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