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
ENST00000374531 [[112403067, 112403146], [112542767, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112704965, 112708983]] [[112403141, 112403146], [112542767, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112704965, 112705705]]
ENST00000448454 [[112403141, 112403146], [112542767, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112694206, 112694308], [112704965, 112713755]] [[112403141, 112403146], [112542767, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112694206, 112694308], [112704965, 112705705]]
ENST00000483909 [[112542682, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112704965, 112705903]] [[112542768, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112704965, 112705705]]
ENST00000314527 [[112542718, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112694206, 112694308], [112704965, 112705751]] [[112542768, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112694206, 112694308], [112704965, 112705705]]
ENST00000497711 [[112629310, 112629354], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112694206, 112694308], [112704965, 112705053]] [[112629351, 112629354], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112694206, 112694308], [112704965, 112705053]]
ENST00000465091 [[112629550, 112629851], [112642830, 112642961], [112686014, 112686129]] None
NM_001037293 [[112403067, 112403146], [112542767, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112704965, 112713756]] [[112403141, 112403146], [112542767, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112704965, 112705705]]
NM_053016 [[112542576, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112694206, 112694308], [112704965, 112713756]] [[112542768, 112542813], [112629770, 112629851], [112642830, 112642961], [112686014, 112686129], [112687340, 112687362], [112694206, 112694308], [112704965, 112705705]]
Promoter
Chrom Start End Description
chr9 112402776 112402787 CAGE_peak_15_at_PALM2_5end
chr9 112403059 112403079 CAGE_peak_3_at_PALM2_5end
chr9 112403088 112403093 CAGE_peak_9_at_PALM2_5end
chr9 112542161 112542169 CAGE_peak_12_at_PALM2_5end,CAGE_peak_25_at_PALM2-AKAP2_5end
chr9 112542182 112542189 CAGE_peak_19_at_PALM2_5end,CAGE_peak_41_at_PALM2-AKAP2_5end
chr9 112542198 112542290 CAGE_peak_2_at_PALM2_5end,CAGE_peak_6_at_PALM2-AKAP2_5end
chr9 112542293 112542312 CAGE_peak_12_at_PALM2-AKAP2_5end,CAGE_peak_6_at_PALM2_5end
chr9 112542441 112542534 CAGE_peak_1_at_PALM2_5end,CAGE_peak_3_at_PALM2-AKAP2_5end
chr9 112542572 112542590 CAGE_peak_5_at_PALM2_5end,CAGE_peak_7_at_AKAP2_5end,CAGE_peak_8_at_PALM2-AKAP2_5end
chr9 112629512 112629528 CAGE_peak_7_at_PALM2_5end
chr9 112629544 112629590 CAGE_peak_4_at_PALM2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I109472 109472666 109480205 1.6 [{'connected_gene': 'PTPN3', 'score': 22.61}, {'connected_gene': 'EPB41L4B', 'score': 16.82}, {'connected_gene': 'PALM2', 'score': 5.5}, {'connected_gene': 'YBX1P6', 'score': 4.61}, {'connected_gene': 'GC09P109498', 'score': 0.34}, {'connected_gene': 'ENSG00000207329', 'score': 0.1}]
chr9 GH09I109507 109507066 109508184 1.15 [{'connected_gene': 'PTPN3', 'score': 8.09}, {'connected_gene': 'YBX1P6', 'score': 7.71}, {'connected_gene': 'PALM2', 'score': 4.89}, {'connected_gene': 'MIR3927', 'score': 0.77}, {'connected_gene': 'GC09P109498', 'score': 0.44}]
chr9 GH09I109885 109885264 109888437 0.86 [{'connected_gene': 'PALM2-AKAP2', 'score': 9.89}, {'connected_gene': 'AKAP2', 'score': 9.85}, {'connected_gene': 'PALM2', 'score': 9.82}, {'connected_gene': 'GC09M110025', 'score': 0.12}]
chr9 GH09I109871 109871597 109873386 0.2 [{'connected_gene': 'PALM2-AKAP2', 'score': 10.11}, {'connected_gene': 'AKAP2', 'score': 10.05}, {'connected_gene': 'PALM2', 'score': 10.02}, {'connected_gene': 'GC09M110025', 'score': 0.1}]
chr9 GH09I109869 109869568 109870893 0.2 [{'connected_gene': 'PALM2-AKAP2', 'score': 10.12}, {'connected_gene': 'AKAP2', 'score': 10.05}, {'connected_gene': 'PALM2', 'score': 10.03}, {'connected_gene': 'GC09M110025', 'score': 0.1}]
chr9 GH09I109890 109889821 109890989 0.2 [{'connected_gene': 'PALM2-AKAP2', 'score': 9.82}, {'connected_gene': 'AKAP2', 'score': 9.78}, {'connected_gene': 'PALM2', 'score': 9.75}, {'connected_gene': 'GC09M110025', 'score': 0.12}]
chr9 GH09I109881 109880621 109880770 0.46 [{'connected_gene': 'PALM2-AKAP2', 'score': 9.9}, {'connected_gene': 'AKAP2', 'score': 9.85}, {'connected_gene': 'PALM2', 'score': 9.82}, {'connected_gene': 'GC09M110025', 'score': 0.11}]
chr9 GH09I109925 109925010 109927070 0.62 [{'connected_gene': 'AKAP2', 'score': 9.71}, {'connected_gene': 'PALM2-AKAP2', 'score': 9.7}, {'connected_gene': 'PALM2', 'score': 9.65}, {'connected_gene': 'GC09M110025', 'score': 0.15}]
chr9 GH09I109882 109882759 109884471 0.43 [{'connected_gene': 'PALM2-AKAP2', 'score': 9.9}, {'connected_gene': 'AKAP2', 'score': 9.85}, {'connected_gene': 'PALM2', 'score': 9.82}, {'connected_gene': 'GC09M110025', 'score': 0.11}]
chr9 GH09I109889 109889581 109889730 0.4 [{'connected_gene': 'PALM2-AKAP2', 'score': 9.82}, {'connected_gene': 'AKAP2', 'score': 9.78}, {'connected_gene': 'PALM2', 'score': 9.75}, {'connected_gene': 'GC09M110025', 'score': 0.12}]
chr9 GH09I109652 109652375 109654840 0.63 [{'connected_gene': 'PALM2-AKAP2', 'score': 9.86}, {'connected_gene': 'AKAP2', 'score': 9.78}, {'connected_gene': 'PALM2', 'score': 5.65}, {'connected_gene': 'ENSG00000232939', 'score': 0.13}]
chr9 GH09I109900 109900793 109902372 0.51 [{'connected_gene': 'PALM2-AKAP2', 'score': 9.83}, {'connected_gene': 'AKAP2', 'score': 9.82}, {'connected_gene': 'PALM2', 'score': 9.77}, {'connected_gene': 'GC09M110025', 'score': 0.13}]
chr9 GH09I109779 109779533 109783119 1.98 [{'connected_gene': 'PALM2-AKAP2', 'score': 550.77}, {'connected_gene': 'AKAP2', 'score': 9.22}, {'connected_gene': 'PALM2', 'score': 0.11}, {'connected_gene': 'GC09M110025', 'score': 0.07}]
chr9 GH09I109868 109868901 109869050 0.4 [{'connected_gene': 'PALM2-AKAP2', 'score': 10.12}, {'connected_gene': 'AKAP2', 'score': 10.05}, {'connected_gene': 'PALM2', 'score': 10.03}, {'connected_gene': 'GC09M110025', 'score': 0.1}]
chr9 GH09I109884 109884596 109885139 0.2 [{'connected_gene': 'PALM2-AKAP2', 'score': 9.9}, {'connected_gene': 'AKAP2', 'score': 9.85}, {'connected_gene': 'PALM2', 'score': 9.82}, {'connected_gene': 'GC09M110025', 'score': 0.11}]
chr9 GH09I109965 109965626 109971335 1.48 [{'connected_gene': 'AKAP2', 'score': 9.18}, {'connected_gene': 'PALM2-AKAP2', 'score': 9.09}, {'connected_gene': 'PALM2', 'score': 9.06}, {'connected_gene': 'GC09M110025', 'score': 0.22}]
chr9 GH09I109922 109922656 109924211 1.03 [{'connected_gene': 'AKAP2', 'score': 9.72}, {'connected_gene': 'PALM2-AKAP2', 'score': 9.7}, {'connected_gene': 'PALM2', 'score': 9.65}, {'connected_gene': 'GC09M110025', 'score': 0.15}]
chr9 GH09I109880 109880946 109881840 0.38 [{'connected_gene': 'PALM2-AKAP2', 'score': 9.9}, {'connected_gene': 'AKAP2', 'score': 9.85}, {'connected_gene': 'PALM2', 'score': 9.82}, {'connected_gene': 'GC09M110025', 'score': 0.11}]
chr9 GH09I109971 109971398 109976230 1.23 [{'connected_gene': 'AKAP2', 'score': 8.75}, {'connected_gene': 'PALM2-AKAP2', 'score': 8.64}, {'connected_gene': 'PALM2', 'score': 8.62}, {'connected_gene': 'GC09M110025', 'score': 0.23}]
chr9 GH09I109788 109788740 109790690 0.38 [{'connected_gene': 'AKAP2', 'score': 9.98}, {'connected_gene': 'PALM2', 'score': 5.28}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.44}, {'connected_gene': 'GC09M110025', 'score': 0.07}]
chr9 GH09I110026 110026634 110032932 1.56 [{'connected_gene': 'PALM2-AKAP2', 'score': 8.93}, {'connected_gene': 'PALM2', 'score': 8.91}, {'connected_gene': 'RPL21P87', 'score': 0.77}, {'connected_gene': 'AKAP2', 'score': 0.37}]
chr9 GH09I109854 109854745 109856752 0.31 [{'connected_gene': 'PALM2-AKAP2', 'score': 0.18}, {'connected_gene': 'GC09M110025', 'score': 0.1}, {'connected_gene': 'PALM2', 'score': 0.08}]
chr9 GH09I109849 109849749 109850789 0.2 [{'connected_gene': 'PALM2-AKAP2', 'score': 0.2}, {'connected_gene': 'GC09M110025', 'score': 0.1}, {'connected_gene': 'PALM2', 'score': 0.08}]
chr9 GH09I109846 109846941 109847090 0.2 [{'connected_gene': 'PALM2-AKAP2', 'score': 0.2}, {'connected_gene': 'GC09M110025', 'score': 0.1}, {'connected_gene': 'PALM2', 'score': 0.08}]
chr9 GH09I109892 109892801 109893581 0.38 [{'connected_gene': 'PALM2-AKAP2', 'score': 0.14}, {'connected_gene': 'GC09M110025', 'score': 0.12}, {'connected_gene': 'PALM2', 'score': 0.07}]
chr9 GH09I109843 109843496 109844379 0.4 [{'connected_gene': 'PALM2-AKAP2', 'score': 0.21}, {'connected_gene': 'GC09M110025', 'score': 0.09}, {'connected_gene': 'PALM2', 'score': 0.08}]
chr9 GH09I109765 109765855 109768083 0.86 [{'connected_gene': 'AKAP2', 'score': 8.43}, {'connected_gene': 'ENSG00000232939', 'score': 0.44}, {'connected_gene': 'PALM2', 'score': 0.13}]
chr9 GH09I109894 109894470 109895870 1.07 [{'connected_gene': 'PALM2-AKAP2', 'score': 0.14}, {'connected_gene': 'GC09M110025', 'score': 0.12}, {'connected_gene': 'PALM2', 'score': 0.07}]
chr9 GH09I109853 109853629 109854709 0.2 [{'connected_gene': 'PALM2-AKAP2', 'score': 0.19}, {'connected_gene': 'GC09M110025', 'score': 0.09}, {'connected_gene': 'PALM2', 'score': 0.08}]
chr9 GH09I109521 109521462 109522929 0.31 [{'connected_gene': 'YBX1P6', 'score': 11.7}, {'connected_gene': 'PTPN3', 'score': 7.48}, {'connected_gene': 'PALM2', 'score': 6.73}, {'connected_gene': 'EPB41L4B', 'score': 6.12}, {'connected_gene': 'MIR3927', 'score': 0.39}]
chr9 GH09I109560 109560362 109561323 0.64 [{'connected_gene': 'YBX1P6', 'score': 10.02}, {'connected_gene': 'PTPN3', 'score': 0.34}, {'connected_gene': 'PALM2', 'score': 0.18}]
chr9 GH09I109554 109554749 109558225 0.92 [{'connected_gene': 'YBX1P6', 'score': 11.03}, {'connected_gene': 'PALM2', 'score': 9.75}, {'connected_gene': 'PALM2-AKAP2', 'score': 9.65}, {'connected_gene': 'AKAP2', 'score': 9.62}, {'connected_gene': 'PTPN3', 'score': 6.43}]
chr9 GH09I109632 109632022 109635609 0.43 [{'connected_gene': 'PALM2', 'score': 0.44}, {'connected_gene': 'PTPN3', 'score': 0.15}]
chr9 GH09I109742 109742702 109743480 0.43 [{'connected_gene': 'PALM2', 'score': 23.08}, {'connected_gene': 'ENSG00000232939', 'score': 12.05}, {'connected_gene': 'PALM2-AKAP2', 'score': 11.33}, {'connected_gene': 'AKAP2', 'score': 11.11}]
chr9 GH09I109773 109773972 109778548 0.31 [{'connected_gene': 'PALM2', 'score': 6.56}, {'connected_gene': 'AKAP2', 'score': 5.66}, {'connected_gene': 'ENSG00000232939', 'score': 0.77}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.77}]
chr9 GH09I109745 109745171 109746349 0.95 [{'connected_gene': 'PALM2', 'score': 23.08}, {'connected_gene': 'ENSG00000232939', 'score': 12.05}, {'connected_gene': 'PALM2-AKAP2', 'score': 11.34}, {'connected_gene': 'AKAP2', 'score': 11.11}]
chr9 GH09I109860 109860994 109862849 0.69 [{'connected_gene': 'PALM2', 'score': 14.69}, {'connected_gene': 'ENSG00000232939', 'score': 10.16}, {'connected_gene': 'PALM2-AKAP2', 'score': 10.05}, {'connected_gene': 'AKAP2', 'score': 9.96}, {'connected_gene': 'GC09M110025', 'score': 0.1}]
chr9 GH09I109751 109751206 109751800 0.69 [{'connected_gene': 'PALM2', 'score': 19.6}, {'connected_gene': 'ENSG00000232939', 'score': 12.13}, {'connected_gene': 'PALM2-AKAP2', 'score': 11.36}, {'connected_gene': 'AKAP2', 'score': 11.11}]
chr9 GH09I109867 109867143 109868759 0.4 [{'connected_gene': 'PALM2', 'score': 14.84}, {'connected_gene': 'PALM2-AKAP2', 'score': 10.12}, {'connected_gene': 'AKAP2', 'score': 10.04}, {'connected_gene': 'GC09M110025', 'score': 0.1}]
chr9 GH09I109725 109725893 109726720 0.2 [{'connected_gene': 'PALM2', 'score': 17.05}, {'connected_gene': 'PALM2-AKAP2', 'score': 10.4}, {'connected_gene': 'AKAP2', 'score': 10.22}, {'connected_gene': 'ENSG00000232939', 'score': 0.25}]
chr9 GH09I109798 109798926 109800780 0.83 [{'connected_gene': 'PALM2', 'score': 16.42}, {'connected_gene': 'ENSG00000232939', 'score': 11.38}, {'connected_gene': 'AKAP2', 'score': 11.12}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.37}, {'connected_gene': 'GC09M110025', 'score': 0.07}]
chr9 GH09I109856 109856868 109857732 0.71 [{'connected_gene': 'PALM2', 'score': 4.81}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.18}, {'connected_gene': 'GC09M110025', 'score': 0.1}]
chr9 GH09I109831 109831874 109832668 0.38 [{'connected_gene': 'PALM2', 'score': 9.23}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.23}, {'connected_gene': 'GC09M110025', 'score': 0.08}]
chr9 GH09I109806 109806801 109806963 0.7 [{'connected_gene': 'PALM2', 'score': 1.97}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.31}, {'connected_gene': 'GC09M110025', 'score': 0.08}]
chr9 GH09I109830 109830251 109831768 0.2 [{'connected_gene': 'PALM2', 'score': 4.49}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.23}, {'connected_gene': 'GC09M110025', 'score': 0.08}]
chr9 GH09I109824 109824227 109825432 0.38 [{'connected_gene': 'PALM2', 'score': 5.02}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.26}, {'connected_gene': 'GC09M110025', 'score': 0.08}]
chr9 GH09I109815 109815199 109819001 1.65 [{'connected_gene': 'PALM2', 'score': 6.22}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.28}, {'connected_gene': 'GC09M110025', 'score': 0.08}]
chr9 GH09I109657 109657556 109657809 0.33 [{'connected_gene': 'PALM2', 'score': 2.7}, {'connected_gene': 'FRRS1L', 'score': 2.3}, {'connected_gene': 'ENSG00000232939', 'score': 0.14}]
chr9 GH09I109640 109640129 109641583 1.58 [{'connected_gene': 'PALM2', 'score': 550.77}, {'connected_gene': 'ENSG00000232939', 'score': 0.12}]
chr9 GH09I109707 109707644 109709849 0.31 [{'connected_gene': 'PALM2', 'score': 10.63}, {'connected_gene': 'ENSG00000232939', 'score': 0.21}]
chr9 GH09I109792 109792222 109795080 1.09 [{'connected_gene': 'ENSG00000232939', 'score': 11.11}, {'connected_gene': 'AKAP2', 'score': 9.93}, {'connected_gene': 'PALM2', 'score': 4.9}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.39}, {'connected_gene': 'GC09M110025', 'score': 0.07}]
chr9 GH09I109934 109934359 109936040 0.57 [{'connected_gene': 'GC09M110025', 'score': 0.16}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.1}, {'connected_gene': 'PALM2', 'score': 0.06}]
chr9 GH09I109904 109904433 109904939 0.51 [{'connected_gene': 'GC09M110025', 'score': 0.13}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.13}, {'connected_gene': 'PALM2', 'score': 0.07}]
chr9 GH09I109903 109903621 109903830 1.01 [{'connected_gene': 'GC09M110025', 'score': 0.13}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.13}, {'connected_gene': 'PALM2', 'score': 0.07}]
chr9 GH09I109917 109917122 109920294 1.14 [{'connected_gene': 'GC09M110025', 'score': 0.14}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.12}, {'connected_gene': 'PALM2', 'score': 0.06}]
chr9 GH09I109906 109906372 109915427 1.47 [{'connected_gene': 'GC09M110025', 'score': 0.14}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.12}, {'connected_gene': 'PALM2', 'score': 0.06}]
chr9 GH09I109796 109796790 109797898 0.54 [{'connected_gene': 'ENSG00000232939', 'score': 10.8}, {'connected_gene': 'PALM2', 'score': 4.9}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.37}, {'connected_gene': 'GC09M110025', 'score': 0.07}]
chr9 GH09I109795 109795531 109796319 0.57 [{'connected_gene': 'ENSG00000232939', 'score': 10.73}, {'connected_gene': 'PALM2', 'score': 4.9}, {'connected_gene': 'PALM2-AKAP2', 'score': 0.37}, {'connected_gene': 'GC09M110025', 'score': 0.07}]
chr9 GH09I109665 109665905 109667449 0.56 [{'connected_gene': 'ENSG00000232939', 'score': 9.65}, {'connected_gene': 'PALM2', 'score': 7.21}]
chr9 GH09I109770 109770401 109772786 0.69 [{'connected_gene': 'ENSG00000232939', 'score': 550.77}, {'connected_gene': 'PALM2', 'score': 8.44}]
chr9 GH09I109668 109668047 109669264 0.2 [{'connected_gene': 'ENSG00000232939', 'score': 9.93}, {'connected_gene': 'PALM2', 'score': 0.31}]

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