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
ENST00000311507 [[84011200, 84012124], [84015830, 84015944], [84026048, 84026173], [84028956, 84029103], [84035818, 84035955]] [[84015839, 84015944], [84026048, 84026173], [84028956, 84029074]]
ENST00000411416 [[84011840, 84012124], [84015830, 84015944], [84026048, 84026173], [84028956, 84029103], [84030880, 84030996]] [[84015839, 84015944], [84026048, 84026173], [84028956, 84029074]]
ENST00000515389 [[84011945, 84012124], [84015830, 84015944], [84035818, 84035889]] None
ENST00000509973 [[84011945, 84012124], [84015830, 84015944], [84026048, 84026173], [84035818, 84035889]] [[84015839, 84015944], [84026048, 84026120]]
ENST00000505406 [[84011958, 84012124], [84015830, 84015944], [84026048, 84026173], [84028956, 84029103], [84036417, 84036585], [84039036, 84039124], [84055687, 84055787], [84058111, 84058228]] [[84015839, 84015944], [84026048, 84026173], [84028956, 84029074]]
ENST00000426923 [[84014013, 84015944], [84026048, 84026173], [84028956, 84029103], [84035818, 84035868]] [[84015839, 84015944], [84026048, 84026173], [84028956, 84029074]]
NM_001130716 [[84011200, 84012124], [84015830, 84015944], [84026048, 84026173], [84028956, 84029103], [84030880, 84031012]] [[84015839, 84015944], [84026048, 84026173], [84028956, 84029074]]
NM_016619 [[84011200, 84012124], [84015830, 84015944], [84026048, 84026173], [84028956, 84029103], [84035818, 84035911]] [[84015839, 84015944], [84026048, 84026173], [84028956, 84029074]]
NM_001130715 [[84015306, 84015944], [84026048, 84026173], [84028956, 84029103], [84035818, 84035911]] [[84015839, 84015944], [84026048, 84026173], [84028956, 84029074]]
Promoter
Chrom Start End Description
chr4 84031001 84031066 CAGE_peak_3_at_PLAC8_5end
chr4 84031302 84031329 CAGE_peak_4_at_PLAC8_5end
chr4 84035870 84035897 CAGE_peak_1_at_PLAC8_5end
chr4 84035905 84035916 CAGE_peak_2_at_PLAC8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I083556 83556002 83557138 0.99 [{'connected_gene': 'GPAT3', 'score': 17.3}, {'connected_gene': 'HPSE', 'score': 6.73}, {'connected_gene': 'COQ2', 'score': 1.93}, {'connected_gene': 'HELQ', 'score': 1.75}, {'connected_gene': 'PLAC8', 'score': 1.39}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4 GH04I083090 83090510 83097878 0.64 [{'connected_gene': 'ABRAXAS1', 'score': 4.85}, {'connected_gene': 'GC04P083063', 'score': 0.29}, {'connected_gene': 'PLAC8', 'score': 0.26}]
chr4 GH04I083547 83547602 83549430 1.64 [{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 9.16}, {'connected_gene': 'GPAT3', 'score': 6.51}, {'connected_gene': 'MRPS18C', 'score': 5.06}, {'connected_gene': 'PLAC8', 'score': 3.8}, {'connected_gene': 'COQ2', 'score': 2.17}, {'connected_gene': 'HELQ', 'score': 1.94}, {'connected_gene': 'GC04M083639', 'score': 0.17}, {'connected_gene': 'ENSG00000201633', 'score': 0.17}]
chr4 GH04I083551 83551865 83553737 1.46 [{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 8.45}, {'connected_gene': 'MRPS18C', 'score': 5.48}, {'connected_gene': 'PLAC8', 'score': 2.74}, {'connected_gene': 'COQ2', 'score': 2.18}, {'connected_gene': 'HELQ', 'score': 1.9}, {'connected_gene': 'GPAT3', 'score': 0.37}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4 GH04I083170 83170734 83172100 1.41 [{'connected_gene': 'PLAC8', 'score': 34.18}, {'connected_gene': 'THAP9', 'score': 9.91}, {'connected_gene': 'MRPS18C', 'score': 7.14}, {'connected_gene': 'HPSE', 'score': 4.03}, {'connected_gene': 'COQ2', 'score': 2.48}, {'connected_gene': 'GC04M083225', 'score': 0.23}]
chr4 GH04I083190 83190437 83190825 0.27 [{'connected_gene': 'PLAC8', 'score': 15.74}, {'connected_gene': 'THAP9', 'score': 2.37}, {'connected_gene': 'COQ2', 'score': 1.52}, {'connected_gene': 'HPSE', 'score': 1.35}, {'connected_gene': 'GC04M083225', 'score': 0.28}]
chr4 GH04I083180 83180146 83181094 1.36 [{'connected_gene': 'PLAC8', 'score': 29.71}, {'connected_gene': 'THAP9', 'score': 12.12}, {'connected_gene': 'HPSE', 'score': 4.84}, {'connected_gene': 'COQ2', 'score': 2.79}, {'connected_gene': 'LIN54', 'score': 1.19}, {'connected_gene': 'GC04M083225', 'score': 0.25}]
chr4 GH04I083152 83152388 83153858 1.07 [{'connected_gene': 'PLAC8', 'score': 19.65}, {'connected_gene': 'THAP9', 'score': 18.68}, {'connected_gene': 'HPSE', 'score': 7.07}, {'connected_gene': 'COQ2', 'score': 2.91}, {'connected_gene': 'LIN54', 'score': 1.21}, {'connected_gene': 'GC04M083225', 'score': 0.19}]
chr4 GH04I083149 83149154 83151676 0.96 [{'connected_gene': 'PLAC8', 'score': 23.39}, {'connected_gene': 'THAP9', 'score': 18.83}, {'connected_gene': 'HPSE', 'score': 6.18}, {'connected_gene': 'COQ2', 'score': 3.36}, {'connected_gene': 'LIN54', 'score': 1.32}, {'connected_gene': 'GC04M083225', 'score': 0.18}]
chr4 GH04I083197 83197002 83199200 1.31 [{'connected_gene': 'PLAC8', 'score': 41.14}, {'connected_gene': 'THAP9', 'score': 4.52}, {'connected_gene': 'HPSE', 'score': 2.79}, {'connected_gene': 'COQ2', 'score': 2.05}, {'connected_gene': 'GC04M083225', 'score': 0.31}]
chr4 GH04I083151 83151749 83151955 0.51 [{'connected_gene': 'PLAC8', 'score': 17.68}, {'connected_gene': 'THAP9', 'score': 10.08}, {'connected_gene': 'HPSE', 'score': 4.42}, {'connected_gene': 'COQ2', 'score': 2.28}, {'connected_gene': 'GC04M083225', 'score': 0.19}]
chr4 GH04I083172 83172320 83177306 1.14 [{'connected_gene': 'PLAC8', 'score': 11.8}, {'connected_gene': 'MRPS18C', 'score': 4.44}, {'connected_gene': 'GC04M083225', 'score': 0.23}, {'connected_gene': 'COQ2', 'score': 0.14}]
chr4 GH04I083215 83215817 83220520 1.55 [{'connected_gene': 'PLAC8', 'score': 28.8}, {'connected_gene': 'LOC391674', 'score': 16.57}, {'connected_gene': 'THAP9', 'score': 6.34}, {'connected_gene': 'HPSE', 'score': 4.16}, {'connected_gene': 'COQ2', 'score': 3.26}, {'connected_gene': 'LIN54', 'score': 2.08}, {'connected_gene': 'HELQ', 'score': 1.66}, {'connected_gene': 'GC04M083225', 'score': 0.44}]
chr4 GH04I083267 83267002 83267966 0.97 [{'connected_gene': 'PLAC8', 'score': 6.61}, {'connected_gene': 'GC04P083274', 'score': 0.44}, {'connected_gene': 'PIR52005', 'score': 0.39}, {'connected_gene': 'COQ2', 'score': 0.37}]
chr4 GH04I083138 83138779 83140244 0.99 [{'connected_gene': 'PLAC8', 'score': 0.77}, {'connected_gene': 'GC04M083225', 'score': 0.17}, {'connected_gene': 'COQ2', 'score': 0.11}]
chr4 GH04I083280 83280359 83282717 1.07 [{'connected_gene': 'PLAC8', 'score': 9.41}, {'connected_gene': 'COQ2', 'score': 0.77}, {'connected_gene': 'GC04P083274', 'score': 0.44}]
chr4 GH04I083107 83107231 83116565 2.48 [{'connected_gene': 'PLAC8', 'score': 575.08}, {'connected_gene': 'HELQ', 'score': 3.53}, {'connected_gene': 'THAP9', 'score': 2.81}, {'connected_gene': 'LIN54', 'score': 2.17}, {'connected_gene': 'COQ2', 'score': 2.11}, {'connected_gene': 'HPSE', 'score': 1.47}, {'connected_gene': 'GC04P083063', 'score': 0.25}]
chr4 GH04I083120 83120823 83122038 0.2 [{'connected_gene': 'PLAC8', 'score': 0.37}, {'connected_gene': 'GC04P083063', 'score': 0.22}]
chr4 GH04I083103 83103921 83106742 0.38 [{'connected_gene': 'PLAC8', 'score': 0.29}, {'connected_gene': 'GC04P083063', 'score': 0.26}]
chr4 GH04I083124 83124061 83125200 0.89 [{'connected_gene': 'PLAC8', 'score': 0.39}, {'connected_gene': 'GC04P083063', 'score': 0.21}]
chr4 GH04I083125 83125228 83126718 0.92 [{'connected_gene': 'PLAC8', 'score': 0.39}, {'connected_gene': 'GC04P083063', 'score': 0.21}]
chr4 GH04I083100 83100008 83102626 0.31 [{'connected_gene': 'PLAC8', 'score': 0.28}, {'connected_gene': 'GC04P083063', 'score': 0.28}]
chr4 GH04I083118 83118557 83119650 0.31 [{'connected_gene': 'PLAC8', 'score': 0.37}, {'connected_gene': 'GC04P083063', 'score': 0.22}]
chr4 GH04I083128 83128201 83129932 1.03 [{'connected_gene': 'PLAC8', 'score': 0.44}, {'connected_gene': 'GC04P083063', 'score': 0.2}]
chr4 GH04I083207 83207020 83209726 1.36 [{'connected_gene': 'LOC391674', 'score': 8.18}, {'connected_gene': 'GC04M083225', 'score': 0.37}, {'connected_gene': 'PLAC8', 'score': 0.19}, {'connected_gene': 'COQ2', 'score': 0.18}]
chr4 GH04I083239 83239731 83241414 1.16 [{'connected_gene': 'LOC391674', 'score': 27.31}, {'connected_gene': 'PLAC8', 'score': 8.76}, {'connected_gene': 'HELQ', 'score': 4.47}, {'connected_gene': 'ENSG00000250677', 'score': 0.77}, {'connected_gene': 'ENSG00000250057', 'score': 0.44}, {'connected_gene': 'COQ2', 'score': 0.26}]
chr4 GH04I083254 83254875 83261297 1.35 [{'connected_gene': 'LOC391674', 'score': 19.07}, {'connected_gene': 'HNRNPD', 'score': 16.09}, {'connected_gene': 'HNRNPDL', 'score': 15.74}, {'connected_gene': 'SEC31A', 'score': 13.4}, {'connected_gene': 'HELQ', 'score': 12.71}, {'connected_gene': 'THAP9-AS1', 'score': 11.04}, {'connected_gene': 'ABRAXAS1', 'score': 9.73}, {'connected_gene': 'PLAC8', 'score': 7.67}, {'connected_gene': 'PIR52005', 'score': 0.44}, {'connected_gene': 'GC04P083274', 'score': 0.37}, {'connected_gene': 'COQ2', 'score': 0.31}]
chr4 GH04I083221 83221193 83222303 0.74 [{'connected_gene': 'LOC391674', 'score': 17.13}, {'connected_gene': 'GC04M083225', 'score': 0.77}, {'connected_gene': 'COQ2', 'score': 0.21}, {'connected_gene': 'PLAC8', 'score': 0.18}]
chr4 GH04I083283 83283547 83286361 1.72 [{'connected_gene': 'COQ2', 'score': 555.06}, {'connected_gene': 'HNRNPD', 'score': 29.74}, {'connected_gene': 'HELQ', 'score': 23.11}, {'connected_gene': 'PLAC8', 'score': 7.81}, {'connected_gene': 'GC04P083274', 'score': 0.39}]
chr4 GH04I083211 83211198 83213805 1.35 [{'connected_gene': 'HELQ', 'score': 6.38}, {'connected_gene': 'PLAC8', 'score': 3.37}, {'connected_gene': 'LIN54', 'score': 1.48}, {'connected_gene': 'GC04M083225', 'score': 0.39}, {'connected_gene': 'COQ2', 'score': 0.19}]
chr4 GH04I083315 83315919 83317741 0.84 [{'connected_gene': 'HPSE', 'score': 53.23}, {'connected_gene': 'THAP9', 'score': 21.43}, {'connected_gene': 'PLAC8', 'score': 6.84}, {'connected_gene': 'COQ2', 'score': 5.83}, {'connected_gene': 'HELQ', 'score': 2.03}, {'connected_gene': 'LIN54', 'score': 1.8}, {'connected_gene': 'LOC105377313', 'score': 0.37}]
chr4 GH04I083320 83320002 83321399 0.89 [{'connected_gene': 'HPSE', 'score': 53.9}, {'connected_gene': 'THAP9', 'score': 17.67}, {'connected_gene': 'PLAC8', 'score': 11.46}, {'connected_gene': 'COQ2', 'score': 5.94}, {'connected_gene': 'HELQ', 'score': 2.15}, {'connected_gene': 'LIN54', 'score': 1.97}, {'connected_gene': 'LOC105377313', 'score': 0.34}]
chr4 GH04I083316 83315522 83315612 0.23 [{'connected_gene': 'HPSE', 'score': 12.61}, {'connected_gene': 'THAP9', 'score': 11.41}, {'connected_gene': 'COQ2', 'score': 3.74}, {'connected_gene': 'PLAC8', 'score': 1.94}, {'connected_gene': 'HELQ', 'score': 1.84}, {'connected_gene': 'LOC105377313', 'score': 0.37}]
chr4 GH04I083082 83082470 83085905 0.92 [{'connected_gene': 'LOC101928963', 'score': 6.96}, {'connected_gene': 'THAP9-AS1', 'score': 6.88}, {'connected_gene': 'GC04P083063', 'score': 0.34}, {'connected_gene': 'PLAC8', 'score': 0.23}]
chr4 GH04I083022 83022401 83023401 0.45 [{'connected_gene': 'THAP9-AS1', 'score': 46.31}, {'connected_gene': 'THAP9', 'score': 11.9}, {'connected_gene': 'HPSE', 'score': 4.63}, {'connected_gene': 'PLAC8', 'score': 2.97}, {'connected_gene': 'COQ2', 'score': 1.72}, {'connected_gene': 'HELQ', 'score': 1.34}, {'connected_gene': 'LIN54', 'score': 0.44}, {'connected_gene': 'COPS4', 'score': 0.39}]
chr4 GH04I083069 83069697 83071797 0.31 [{'connected_gene': 'THAP9-AS1', 'score': 24.99}, {'connected_gene': 'GC04P083063', 'score': 0.44}, {'connected_gene': 'COPS4', 'score': 0.28}, {'connected_gene': 'PLAC8', 'score': 0.2}]
chr4 GH04I083369 83369832 83370600 0.72 [{'connected_gene': 'ENSG00000274154', 'score': 550.77}, {'connected_gene': 'THAP9', 'score': 11.19}, {'connected_gene': 'MRPS18C', 'score': 6.96}, {'connected_gene': 'HPSE', 'score': 5.81}, {'connected_gene': 'PLAC8', 'score': 5.79}, {'connected_gene': 'COQ2', 'score': 2.7}, {'connected_gene': 'LOC100287427', 'score': 0.44}]
chr4 GH04I083251 83251291 83251386 0.42 [{'connected_gene': 'PIR52005', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 23.9}, {'connected_gene': 'THAP9', 'score': 2.02}, {'connected_gene': 'PIR41904', 'score': 0.77}, {'connected_gene': 'COQ2', 'score': 0.29}]
chr4 GH04I083370 83370690 83370761 0.22 [{'connected_gene': 'ENSG00000274154', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 9.69}, {'connected_gene': 'THAP9', 'score': 9.02}, {'connected_gene': 'HPSE', 'score': 4.81}, {'connected_gene': 'COQ2', 'score': 2.89}, {'connected_gene': 'LOC100287427', 'score': 0.44}]
chr4 GH04I083230 83230740 83232877 1.4 [{'connected_gene': 'GC04M083232', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 30.42}, {'connected_gene': 'LOC391674', 'score': 19.27}, {'connected_gene': 'THAP9', 'score': 4.95}, {'connected_gene': 'HPSE', 'score': 2.36}, {'connected_gene': 'COQ2', 'score': 2.01}, {'connected_gene': 'GC04M083225', 'score': 0.44}]
chr4 GH04I083272 83272801 83273475 1.18 [{'connected_gene': 'GC04P083274', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 8.75}, {'connected_gene': 'LOC391674', 'score': 8.01}, {'connected_gene': 'COQ2', 'score': 0.39}, {'connected_gene': 'PIR52005', 'score': 0.34}]
chr4 GH04I083188 83188391 83190354 0.82 [{'connected_gene': 'GC04M083225', 'score': 0.28}, {'connected_gene': 'PLAC8', 'score': 0.23}, {'connected_gene': 'COQ2', 'score': 0.15}]
chr4 GH04I083252 83252428 83253479 1.14 [{'connected_gene': 'PIR52005', 'score': 550.77}, {'connected_gene': 'PLAC8', 'score': 8.39}, {'connected_gene': 'GC04P083274', 'score': 0.34}, {'connected_gene': 'COQ2', 'score': 0.29}]
chr4 GH04I083088 83088519 83090469 0.49 [{'connected_gene': 'GC04P083063', 'score': 0.31}, {'connected_gene': 'PLAC8', 'score': 0.25}]
chr4 GH04I083074 83074002 83074426 0.89 [{'connected_gene': 'GC04P083063', 'score': 0.39}, {'connected_gene': 'COPS4', 'score': 0.28}, {'connected_gene': 'PLAC8', 'score': 0.21}]
chr4 GH04I083065 83065610 83065721 0.22 [{'connected_gene': 'GC04P083063', 'score': 550.77}, {'connected_gene': 'COPS4', 'score': 0.29}, {'connected_gene': 'PLAC8', 'score': 0.19}]
chr4 GH04I083075 83075255 83076334 0.92 [{'connected_gene': 'GC04P083063', 'score': 0.39}, {'connected_gene': 'COPS4', 'score': 0.26}, {'connected_gene': 'PLAC8', 'score': 0.21}]
chr4 GH04I083067 83067368 83067477 0.43 [{'connected_gene': 'GC04P083063', 'score': 0.77}, {'connected_gene': 'COPS4', 'score': 0.29}, {'connected_gene': 'PLAC8', 'score': 0.2}]

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