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
ENST00000379066 [[37477644, 37480493], [37481346, 37481432], [37483804, 37484072], [37486725, 37486824], [37487365, 37487527], [37494572, 37494679], [37496757, 37496830], [37499522, 37499575], [37501563, 37501840], [37502909, 37502987], [37505008, 37505132], [37506888, 37507072], [37509684, 37509762], [37513319, 37513512], [37516498, 37516656], [37518010, 37518142], [37520275, 37520414], [37543379, 37544322], [37544929, 37545037]] [[37480319, 37480493], [37481346, 37481432], [37483804, 37484072], [37486725, 37486824], [37487365, 37487527], [37494572, 37494679], [37496757, 37496830], [37499522, 37499575], [37501563, 37501840], [37502909, 37502987], [37505008, 37505132], [37506888, 37507072], [37509684, 37509762], [37513319, 37513512], [37516498, 37516656], [37518010, 37518142], [37520275, 37520414], [37543379, 37543667]]
ENST00000234179 [[37477647, 37480493], [37481346, 37481432], [37483804, 37484072], [37486725, 37486824], [37487365, 37487527], [37494572, 37494679], [37496757, 37496830], [37499522, 37499575], [37501563, 37501840], [37502909, 37502987], [37505008, 37505132], [37506888, 37507072], [37509684, 37509762], [37513319, 37513512], [37516498, 37516656], [37518010, 37518142], [37520275, 37520414], [37543379, 37544222]] [[37480319, 37480493], [37481346, 37481432], [37483804, 37484072], [37486725, 37486824], [37487365, 37487527], [37494572, 37494679], [37496757, 37496830], [37499522, 37499575], [37501563, 37501840], [37502909, 37502987], [37505008, 37505132], [37506888, 37507072], [37509684, 37509762], [37513319, 37513512], [37516498, 37516656], [37518010, 37518142], [37520275, 37520414], [37543379, 37543667]]
ENST00000469275 [[37483804, 37484072], [37486725, 37486824], [37487365, 37487527], [37494572, 37494679], [37496757, 37496830], [37499522, 37499575], [37501563, 37501840], [37502909, 37502987], [37505008, 37506533]] None
ENST00000452104 [[37483840, 37484072], [37486725, 37486824], [37494572, 37494679], [37496757, 37496830], [37499522, 37499566]] [[37483840, 37484072], [37486725, 37486824], [37494572, 37494679], [37496757, 37496830], [37499522, 37499566]]
ENST00000443977 [[37487498, 37487527], [37494572, 37494679], [37495443, 37495515], [37496757, 37496830], [37499522, 37499575], [37501563, 37501747]] [[37487498, 37487527], [37494572, 37494679], [37495443, 37495515], [37496757, 37496830], [37499522, 37499575], [37501563, 37501747]]
ENST00000494667 [[37494707, 37496830], [37499522, 37499575], [37501563, 37501840], [37502909, 37502987], [37505008, 37505132], [37506888, 37507072], [37509684, 37509762], [37513319, 37513512], [37516498, 37516656], [37518010, 37518142], [37520275, 37520414], [37543379, 37544166]] None
ENST00000475912 [[37509448, 37509762], [37513319, 37513512], [37516498, 37516656], [37518010, 37518105]] None
ENST00000443187 [[37513374, 37513512], [37516498, 37516656], [37518010, 37518142], [37520275, 37520414], [37551823, 37551951]] [[37513374, 37513512], [37516498, 37516656], [37518010, 37518142], [37520275, 37520390]]
ENST00000464552 [[37520130, 37520414], [37543379, 37543531]] None
ENST00000477132 [[37543956, 37544322], [37551340, 37551513]] None
NM_005813 [[37477644, 37480493], [37481346, 37481432], [37483804, 37484072], [37486725, 37486824], [37487365, 37487527], [37494572, 37494679], [37496757, 37496830], [37499522, 37499575], [37501563, 37501840], [37502909, 37502987], [37505008, 37505132], [37506888, 37507072], [37509684, 37509762], [37513319, 37513512], [37516498, 37516656], [37518010, 37518142], [37520275, 37520414], [37543379, 37544222]] [[37480319, 37480493], [37481346, 37481432], [37483804, 37484072], [37486725, 37486824], [37487365, 37487527], [37494572, 37494679], [37496757, 37496830], [37499522, 37499575], [37501563, 37501840], [37502909, 37502987], [37505008, 37505132], [37506888, 37507072], [37509684, 37509762], [37513319, 37513512], [37516498, 37516656], [37518010, 37518142], [37520275, 37520414], [37543379, 37543667]]
Promoter
Chrom Start End Description
chr2 37544209 37544230 CAGE_peak_13_at_PRKD3_5end
chr2 37551500 37551518 CAGE_peak_9_at_PRKD3_5end
chr2 37551526 37551556 CAGE_peak_3_at_PRKD3_5end
chr2 37551627 37551638 CAGE_peak_16_at_PRKD3_5end
chr2 37551788 37551799 CAGE_peak_12_at_PRKD3_5end
chr2 37551812 37551828 CAGE_peak_4_at_PRKD3_5end
chr2 37551846 37551952 CAGE_peak_1_at_PRKD3_5end
chr2 37551970 37551982 CAGE_peak_2_at_PRKD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH02I037307 37307153 37307197 0.4 [{'connected_gene': 'NDUFAF7', 'score': 15.61}, {'connected_gene': 'RNU6-939P', 'score': 10.95}, {'connected_gene': 'CEBPZ', 'score': 10.84}, {'connected_gene': 'PRKD3', 'score': 6.18}, {'connected_gene': 'GC02M037305', 'score': 0.77}, {'connected_gene': 'PIR41480', 'score': 0.22}]
chr2 GH02I036402 36402313 36415399 1.35 [{'connected_gene': 'CRIM1', 'score': 18.35}, {'connected_gene': 'ENSG00000272054', 'score': 14.72}, {'connected_gene': 'LOC100288911', 'score': 11.27}, {'connected_gene': 'PRKD3', 'score': 10.39}, {'connected_gene': 'GC02P036388', 'score': 0.34}, {'connected_gene': 'ENSG00000273090', 'score': 0.15}]
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 GH02I037448 37448368 37450855 0.57 [{'connected_gene': 'PRKD3', 'score': 4.53}, {'connected_gene': 'NDUFAF7', 'score': 4.45}, {'connected_gene': 'LOC105374464', 'score': 0.44}, {'connected_gene': 'RNU6-1116P', 'score': 0.39}, {'connected_gene': 'GC02P037427', 'score': 0.31}]
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 GH02I037322 37322993 37327340 1.68 [{'connected_gene': 'PRKD3', 'score': 556.84}, {'connected_gene': 'LOC101929542', 'score': 550.77}, {'connected_gene': 'CEBPZ', 'score': 17.66}, {'connected_gene': 'NDUFAF7', 'score': 5.14}, {'connected_gene': 'CEBPZOS', 'score': 4.43}, {'connected_gene': 'GC02M037332', 'score': 0.44}, {'connected_gene': 'RNU6-939P', 'score': 0.44}]
chr2 GH02I037270 37270349 37270512 0.24 [{'connected_gene': 'PRKD3', 'score': 17.51}, {'connected_gene': 'CEBPZ', 'score': 11.61}, {'connected_gene': 'NDUFAF7', 'score': 11.61}, {'connected_gene': 'LOC101929542', 'score': 10.79}, {'connected_gene': 'HEATR5B', 'score': 1.38}, {'connected_gene': 'PIR41480', 'score': 0.34}, {'connected_gene': 'GC02M037305', 'score': 0.28}]
chr2 GH02I037302 37302807 37304606 0.31 [{'connected_gene': 'PRKD3', 'score': 17.24}, {'connected_gene': 'CEBPZOS', 'score': 16.12}, {'connected_gene': 'CEBPZ', 'score': 15.98}, {'connected_gene': 'NDUFAF7', 'score': 15.61}, {'connected_gene': 'RNU6-939P', 'score': 11.38}, {'connected_gene': 'LOC101929542', 'score': 11.34}, {'connected_gene': 'GC02M037305', 'score': 0.44}, {'connected_gene': 'PIR41480', 'score': 0.23}]
chr2 GH02I037321 37321601 37322200 0.51 [{'connected_gene': 'PRKD3', 'score': 6.87}, {'connected_gene': 'GC02M037305', 'score': 0.39}]
chr2 GH02I037318 37317062 37317121 0.7 [{'connected_gene': 'PRKD3', 'score': 550.44}, {'connected_gene': 'GC02M037305', 'score': 0.44}]
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 GH02I037306 37306098 37306247 0.8 [{'connected_gene': 'RNU6-939P', 'score': 10.93}, {'connected_gene': 'CEBPZ', 'score': 10.85}, {'connected_gene': 'NDUFAF7', 'score': 10.85}, {'connected_gene': 'GC02M037305', 'score': 0.77}, {'connected_gene': 'PRKD3', 'score': 0.37}, {'connected_gene': 'PIR41480', 'score': 0.22}]
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 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 GH02I037576 37576371 37577850 0.43 [{'connected_gene': 'LOC105374464', 'score': 11.97}, {'connected_gene': 'PRKD3', 'score': 5.65}, {'connected_gene': 'GC02M037562', 'score': 0.39}, {'connected_gene': 'GC02P037671', 'score': 0.16}, {'connected_gene': 'GC02P037427', 'score': 0.1}]
chr2 GH02I037864 37864516 37868128 0.49 [{'connected_gene': 'LINC00211', 'score': 20.95}, {'connected_gene': 'LOC105374464', 'score': 10.89}, {'connected_gene': 'LOC101929542', 'score': 10.7}, {'connected_gene': 'PRKD3', 'score': 10.7}, {'connected_gene': 'RNU6-939P', 'score': 9.4}, {'connected_gene': 'LOC344382', 'score': 0.25}]
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 GH02I037282 37282852 37284144 0.43 [{'connected_gene': 'CEBPZOS', 'score': 13.39}, {'connected_gene': 'RNU6-939P', 'score': 10.47}, {'connected_gene': 'CEBPZ', 'score': 10.38}, {'connected_gene': 'PRKD3', 'score': 7.95}, {'connected_gene': 'NDUFAF7', 'score': 5.0}, {'connected_gene': 'GC02M037305', 'score': 0.31}, {'connected_gene': 'PIR41480', 'score': 0.29}]
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}]
chr2 GH02I036614 36614124 36618800 1.05 [{'connected_gene': 'ENSG00000272054', 'score': 35.33}, {'connected_gene': 'FEZ2', 'score': 13.94}, {'connected_gene': 'HEATR5B', 'score': 12.05}, {'connected_gene': 'CEBPZ', 'score': 10.66}, {'connected_gene': 'PRKD3', 'score': 10.39}, {'connected_gene': 'CRIM1', 'score': 10.1}, {'connected_gene': 'GC02M036589', 'score': 0.34}]

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