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
ENST00000354234 [[50018428, 50018993], [50025688, 50026045], [50034242, 50034368], [50035232, 50035298], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50069138]] [[50026029, 50026045], [50034242, 50034368], [50035232, 50035298], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50065985]]
ENST00000317257 [[50018509, 50018993], [50025688, 50026045], [50034242, 50034368], [50035232, 50035298], [50038156, 50038192], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50066306]] [[50026029, 50026045], [50034242, 50034368], [50035232, 50035298], [50038156, 50038192], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50065985]]
ENST00000481439 [[50018819, 50018993], [50019688, 50020088]] None
ENST00000258672 [[50018894, 50018993], [50025688, 50026045], [50034242, 50034368], [50035232, 50035298], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059981]] [[50026029, 50026045], [50034242, 50034368], [50035232, 50035298], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059930]]
NM_001320699 [[50018428, 50018993], [50034242, 50034368], [50035232, 50035298], [50038156, 50038192], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50069139]] [[50034262, 50034368], [50035232, 50035298], [50038156, 50038192], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50065985]]
NM_001160308 [[50018428, 50018993], [50025688, 50026045], [50034242, 50034368], [50035232, 50035298], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50069139]] [[50026029, 50026045], [50034242, 50034368], [50035232, 50035298], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50065985]]
NM_031915 [[50018428, 50018993], [50025688, 50026045], [50034242, 50034368], [50035232, 50035298], [50038156, 50038192], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50069139]] [[50026029, 50026045], [50034242, 50034368], [50035232, 50035298], [50038156, 50038192], [50041999, 50042096], [50050611, 50051175], [50054354, 50054471], [50055082, 50055252], [50056872, 50057098], [50057599, 50057699], [50059765, 50059859], [50062425, 50062766], [50064957, 50065046], [50065867, 50065985]]
Promoter
Chrom Start End Description
chr13 50018344 50018397 CAGE_peak_3_at_SETDB2_5end
chr13 50018402 50018469 CAGE_peak_1_at_SETDB2_5end
chr13 50018494 50018520 CAGE_peak_4_at_SETDB2_5end
chr13 50018535 50018583 CAGE_peak_2_at_SETDB2_5end
chr13 50018594 50018612 CAGE_peak_5_at_SETDB2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I049689 49689666 49694057 1.99 [{'connected_gene': 'EBPL', 'score': 581.38}, {'connected_gene': 'SETDB2', 'score': 15.5}, {'connected_gene': 'TRIM13', 'score': 12.89}, {'connected_gene': 'KCNRG', 'score': 11.54}, {'connected_gene': 'RCBTB1', 'score': 4.68}, {'connected_gene': 'GC13P049698', 'score': 0.44}]
chr13 GH13I049710 49710808 49712222 0.59 [{'connected_gene': 'EBPL', 'score': 22.0}, {'connected_gene': 'KPNA3', 'score': 10.85}, {'connected_gene': 'RCBTB1', 'score': 4.36}, {'connected_gene': 'SETDB2', 'score': 4.25}, {'connected_gene': 'GC13P049698', 'score': 0.39}, {'connected_gene': 'ENSG00000276436', 'score': 0.18}]
chr13 GH13I049442 49442897 49448355 2.47 [{'connected_gene': 'SETDB2', 'score': 562.96}, {'connected_gene': 'CAB39L', 'score': 561.63}, {'connected_gene': 'PHF11', 'score': 23.78}, {'connected_gene': 'ARL11', 'score': 10.83}, {'connected_gene': 'EBPL', 'score': 6.37}, {'connected_gene': 'SNRPGP14', 'score': 0.26}, {'connected_gene': 'GC13P049390', 'score': 0.22}]
chr13 GH13I049448 49448401 49448600 0.4 [{'connected_gene': 'SETDB2', 'score': 0.77}, {'connected_gene': 'CAB39L', 'score': 0.77}, {'connected_gene': 'SNRPGP14', 'score': 0.26}, {'connected_gene': 'GC13P049390', 'score': 0.22}]
chr13 GH13I048760 48760842 48762018 0.2 [{'connected_gene': 'SETDB2', 'score': 5.03}, {'connected_gene': 'GC13P048764', 'score': 0.77}, {'connected_gene': 'CYSLTR2', 'score': 0.14}]
chr13 GH13I049451 49451571 49451630 0.5 [{'connected_gene': 'SETDB2', 'score': 550.44}, {'connected_gene': 'PHF11', 'score': 11.45}, {'connected_gene': 'CAB39L', 'score': 0.44}, {'connected_gene': 'SNRPGP14', 'score': 0.28}, {'connected_gene': 'GC13P049390', 'score': 0.21}]
chr13 GH13I049453 49453294 49455321 0.92 [{'connected_gene': 'SETDB2', 'score': 14.8}, {'connected_gene': 'PHF11', 'score': 11.45}, {'connected_gene': 'KPNA3', 'score': 9.36}, {'connected_gene': 'RCBTB1', 'score': 4.85}, {'connected_gene': 'CAB39L', 'score': 0.39}, {'connected_gene': 'SNRPGP14', 'score': 0.29}, {'connected_gene': 'GC13P049390', 'score': 0.21}]
chr13 GH13I049465 49465905 49467186 0.76 [{'connected_gene': 'SETDB2', 'score': 13.79}, {'connected_gene': 'PHF11', 'score': 11.34}, {'connected_gene': 'SNRPGP14', 'score': 0.34}, {'connected_gene': 'CAB39L', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.18}]
chr13 GH13I049041 49041811 49042204 0.22 [{'connected_gene': 'SETDB2', 'score': 3.18}, {'connected_gene': 'FNDC3A', 'score': 3.01}, {'connected_gene': 'PHF11', 'score': 2.79}, {'connected_gene': 'CAB39L', 'score': 1.38}, {'connected_gene': 'RAD17P2', 'score': 0.77}, {'connected_gene': 'RNU6-60P', 'score': 0.23}]
chr13 GH13I049435 49435788 49437085 0.49 [{'connected_gene': 'SETDB2', 'score': 14.17}, {'connected_gene': 'ARL11', 'score': 4.51}, {'connected_gene': 'CAB39L', 'score': 0.44}, {'connected_gene': 'GC13P049413', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.25}]
chr13 GH13I049292 49292345 49293390 0.84 [{'connected_gene': 'SETDB2', 'score': 29.13}, {'connected_gene': 'TRIM13', 'score': 10.91}, {'connected_gene': 'CDADC1', 'score': 10.63}, {'connected_gene': 'CAB39L', 'score': 4.29}, {'connected_gene': 'GC13P049296', 'score': 0.77}, {'connected_gene': 'GC13M049248', 'score': 0.26}]
chr13 GH13I050395 50395901 50396594 0.43 [{'connected_gene': 'SETDB2', 'score': 15.46}, {'connected_gene': 'TRIM13', 'score': 12.88}, {'connected_gene': 'SERPINE3', 'score': 12.2}, {'connected_gene': 'RPL34P26', 'score': 11.87}, {'connected_gene': 'KCNRG', 'score': 11.53}, {'connected_gene': 'GC13P050401', 'score': 0.77}, {'connected_gene': 'GC13P050390', 'score': 0.44}, {'connected_gene': 'DLEU1', 'score': 0.06}]
chr13 GH13I049847 49847601 49848579 1.11 [{'connected_gene': 'SETDB2', 'score': 15.01}, {'connected_gene': 'TRIM13', 'score': 10.03}, {'connected_gene': 'DLEU1', 'score': 6.25}, {'connected_gene': 'EBPL', 'score': 5.04}, {'connected_gene': 'RNY4P30', 'score': 0.26}, {'connected_gene': 'KPNA3', 'score': 0.22}]
chr13 GH13I050115 50115335 50115839 0.38 [{'connected_gene': 'SETDB2', 'score': 15.46}, {'connected_gene': 'TRIM13', 'score': 12.96}, {'connected_gene': 'DLEU1', 'score': 12.37}, {'connected_gene': 'KCNRG', 'score': 11.63}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.89}, {'connected_gene': 'RNASEH2B', 'score': 10.89}, {'connected_gene': 'KPNA3', 'score': 9.26}, {'connected_gene': 'ENSG00000273541', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.39}]
chr13 GH13I050207 50207899 50210141 1.37 [{'connected_gene': 'SETDB2', 'score': 14.99}, {'connected_gene': 'RPL34P26', 'score': 10.57}, {'connected_gene': 'RNASEH2B', 'score': 10.28}, {'connected_gene': 'TRIM13', 'score': 10.0}, {'connected_gene': 'DLEU7', 'score': 9.63}, {'connected_gene': 'EBPL', 'score': 4.16}, {'connected_gene': 'GC13P050221', 'score': 0.39}, {'connected_gene': 'GC13P050185', 'score': 0.34}, {'connected_gene': 'DLEU1', 'score': 0.13}]
chr13 GH13I050356 50356747 50359229 1.14 [{'connected_gene': 'SERPINE3', 'score': 11.62}, {'connected_gene': 'SETDB2', 'score': 9.77}, {'connected_gene': 'EBPL', 'score': 6.49}, {'connected_gene': 'RPL34P26', 'score': 0.77}, {'connected_gene': 'GC13M050344', 'score': 0.39}, {'connected_gene': 'DLEU1', 'score': 0.06}]
chr13 GH13I049934 49934830 49940676 2.25 [{'connected_gene': 'SPRYD7', 'score': 550.22}, {'connected_gene': 'TRIM13', 'score': 25.97}, {'connected_gene': 'KCNRG', 'score': 15.58}, {'connected_gene': 'SETDB2', 'score': 13.34}, {'connected_gene': 'EBPL', 'score': 9.84}, {'connected_gene': 'DLEU1', 'score': 7.65}, {'connected_gene': 'CTAGE10P', 'score': 6.9}, {'connected_gene': 'GC13P049951', 'score': 0.39}, {'connected_gene': 'GC13M049909', 'score': 0.31}, {'connected_gene': 'RNY4P9', 'score': 0.31}]
chr13 GH13I049634 49634991 49636670 0.91 [{'connected_gene': 'RCBTB1', 'score': 13.42}, {'connected_gene': 'EBPL', 'score': 4.56}, {'connected_gene': 'CAB39L', 'score': 4.2}, {'connected_gene': 'ARL11', 'score': 1.64}, {'connected_gene': 'SETDB2', 'score': 1.23}, {'connected_gene': 'LOC105370205', 'score': 0.77}]
chr13 GH13I049584 49584400 49588249 1.99 [{'connected_gene': 'RCBTB1', 'score': 575.05}, {'connected_gene': 'SETDB2', 'score': 12.92}, {'connected_gene': 'GC13P049617', 'score': 0.29}]
chr13 GH13I049494 49494389 49500998 2.39 [{'connected_gene': 'PHF11', 'score': 564.24}, {'connected_gene': 'SETDB2', 'score': 27.92}, {'connected_gene': 'TRIM13', 'score': 12.87}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'EBPL', 'score': 10.61}, {'connected_gene': 'ARL11', 'score': 5.5}, {'connected_gene': 'RCBTB1', 'score': 0.17}, {'connected_gene': 'GC13P049390', 'score': 0.14}]
chr13 GH13I049520 49520055 49520336 0.42 [{'connected_gene': 'PHF11', 'score': 26.48}, {'connected_gene': 'CAB39L', 'score': 2.3}, {'connected_gene': 'SETDB2', 'score': 1.32}, {'connected_gene': 'RCBTB1', 'score': 0.2}, {'connected_gene': 'GC13P049390', 'score': 0.13}]
chr13 GH13I049418 49418755 49419601 0.58 [{'connected_gene': 'PHF11', 'score': 6.1}, {'connected_gene': 'RCBTB1', 'score': 4.4}, {'connected_gene': 'GC13P049413', 'score': 0.44}, {'connected_gene': 'SETDB2', 'score': 0.34}, {'connected_gene': 'CAB39L', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.31}]
chr13 GH13I049640 49640976 49644200 1.31 [{'connected_gene': 'PHF11', 'score': 20.79}, {'connected_gene': 'RCBTB1', 'score': 13.03}, {'connected_gene': 'ARL11', 'score': 12.88}, {'connected_gene': 'EBPL', 'score': 11.77}, {'connected_gene': 'KPNA3', 'score': 10.65}, {'connected_gene': 'SETDB2', 'score': 10.26}, {'connected_gene': 'CAB39L', 'score': 4.77}, {'connected_gene': 'LOC105370205', 'score': 0.77}, {'connected_gene': 'GC13M049652', 'score': 0.39}]
chr13 GH13I049790 49790706 49794054 2.05 [{'connected_gene': 'KPNA3', 'score': 556.01}, {'connected_gene': 'ENSG00000276436', 'score': 550.77}, {'connected_gene': 'EBPL', 'score': 26.25}, {'connected_gene': 'SPRYD7', 'score': 6.68}, {'connected_gene': 'SETDB2', 'score': 5.19}, {'connected_gene': 'DLEU1', 'score': 5.02}, {'connected_gene': 'GC13P049698', 'score': 0.16}]
chr13 GH13I048770 48769001 48769201 0.84 [{'connected_gene': 'PSME2P2', 'score': 550.77}, {'connected_gene': 'SETDB2', 'score': 5.22}, {'connected_gene': 'GC13P048764', 'score': 0.77}]
chr13 GH13I048726 48726060 48729208 0.83 [{'connected_gene': 'MED4', 'score': 13.36}, {'connected_gene': 'PPP1R26P1', 'score': 13.1}, {'connected_gene': 'CYSLTR2', 'score': 11.86}, {'connected_gene': 'SETDB2', 'score': 11.56}, {'connected_gene': 'FNDC3A', 'score': 9.87}, {'connected_gene': 'GC13P048764', 'score': 0.28}]
chr13 GH13I049219 49219711 49221452 1.41 [{'connected_gene': 'MLNR', 'score': 550.77}, {'connected_gene': 'SETDB2', 'score': 15.51}, {'connected_gene': 'TRIM13', 'score': 12.86}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'PPP1R26P1', 'score': 10.66}, {'connected_gene': 'FNDC3A', 'score': 4.94}, {'connected_gene': 'THAP12P10', 'score': 0.39}, {'connected_gene': 'LOC105370203', 'score': 0.31}]
chr13 GH13I049109 49109685 49111601 1.97 [{'connected_gene': 'FNDC3A', 'score': 550.12}, {'connected_gene': 'SETDB2', 'score': 12.87}, {'connected_gene': 'PPP1R26P1', 'score': 10.33}, {'connected_gene': 'RNY3P2', 'score': 0.37}, {'connected_gene': 'COX7CP1', 'score': 0.18}]
chr13 GH13I048530 48530816 48534527 2.43 [{'connected_gene': 'RCBTB2', 'score': 557.68}, {'connected_gene': 'ENSG00000274929', 'score': 550.77}, {'connected_gene': 'GC13P048532', 'score': 550.77}, {'connected_gene': 'GC13P048533', 'score': 550.77}, {'connected_gene': 'PPP1R26P1', 'score': 17.28}, {'connected_gene': 'LINC00462', 'score': 10.01}, {'connected_gene': 'SETDB2', 'score': 9.72}, {'connected_gene': 'RB1', 'score': 6.3}, {'connected_gene': 'LPAR6', 'score': 5.68}]
chr13 GH13I050121 50121689 50131823 2.28 [{'connected_gene': 'DLEU2', 'score': 555.7}, {'connected_gene': 'ENSG00000274270', 'score': 550.77}, {'connected_gene': 'SETDB2', 'score': 51.06}, {'connected_gene': 'TRIM13', 'score': 34.63}, {'connected_gene': 'KCNRG', 'score': 26.25}, {'connected_gene': 'DLEU1', 'score': 25.23}, {'connected_gene': 'RNASEH2B-AS1', 'score': 23.01}, {'connected_gene': 'CTAGE10P', 'score': 13.18}, {'connected_gene': 'RNASEH2B', 'score': 11.42}, {'connected_gene': 'EBPL', 'score': 9.37}, {'connected_gene': 'ARL11', 'score': 1.93}, {'connected_gene': 'ST13P4', 'score': 0.25}]
chr13 GH13I049371 49371985 49372194 0.76 [{'connected_gene': 'TRIM13', 'score': 10.98}, {'connected_gene': 'SETDB2', 'score': 10.23}, {'connected_gene': 'KCNRG', 'score': 10.18}, {'connected_gene': 'GC13P049390', 'score': 0.37}, {'connected_gene': 'CAB39L', 'score': 0.19}, {'connected_gene': 'GC13P049296', 'score': 0.18}]
chr13 GH13I049300 49300785 49301800 1.05 [{'connected_gene': 'TRIM13', 'score': 10.91}, {'connected_gene': 'SETDB2', 'score': 10.19}, {'connected_gene': 'GC13P049296', 'score': 0.77}, {'connected_gene': 'GC13P049390', 'score': 0.17}]
chr13 GH13I049413 49413741 49413800 0.61 [{'connected_gene': 'GC13P049413', 'score': 550.77}, {'connected_gene': 'CAB39L', 'score': 550.29}, {'connected_gene': 'GC13P049390', 'score': 0.34}, {'connected_gene': 'SETDB2', 'score': 0.29}]
chr13 GH13I048988 48988905 48989197 0.26 [{'connected_gene': 'GC13P048988', 'score': 550.77}, {'connected_gene': 'RNU6-60P', 'score': 550.77}, {'connected_gene': 'FNDC3A', 'score': 4.86}, {'connected_gene': 'SETDB2', 'score': 4.08}, {'connected_gene': 'CYSLTR2', 'score': 1.8}, {'connected_gene': 'CDADC1', 'score': 1.71}, {'connected_gene': 'RCBTB2', 'score': 1.57}, {'connected_gene': 'RAD17P2', 'score': 0.22}]
chr13 GH13I050075 50075404 50084477 1.77 [{'connected_gene': 'ENSG00000275559', 'score': 550.77}, {'connected_gene': 'TRIM13', 'score': 19.45}, {'connected_gene': 'SETDB2', 'score': 18.14}, {'connected_gene': 'CTAGE10P', 'score': 13.33}, {'connected_gene': 'DLEU1', 'score': 13.16}, {'connected_gene': 'KCNRG', 'score': 11.3}, {'connected_gene': 'EBPL', 'score': 10.69}, {'connected_gene': 'ENSG00000277752', 'score': 0.77}, {'connected_gene': 'GC13P050084', 'score': 0.77}, {'connected_gene': 'ENSG00000276089', 'score': 0.77}, {'connected_gene': 'GC13P050070', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.25}]

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