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
ENST00000371818 [[91087650, 91087835], [91098417, 91100728]] [[91087830, 91087835], [91098417, 91099885]]
ENST00000371811 [[91092240, 91092384], [91098417, 91100728]] [[91092379, 91092384], [91098417, 91099885]]
NM_001549 [[91087575, 91087835], [91098417, 91100725]] [[91087830, 91087835], [91098417, 91099885]]
NM_001289758 [[91087575, 91087835], [91097181, 91097299], [91098417, 91100725]] [[91098568, 91099885]]
NM_001031683 [[91092235, 91092384], [91098417, 91100725]] [[91092379, 91092384], [91098417, 91099885]]
NM_001289759 [[91092235, 91092384], [91097177, 91097299], [91098417, 91100725]] [[91098568, 91099885]]
Promoter
Chrom Start End Description
chr10 91087721 91087732 CAGE_peak_4_at_IFIT3_5end
chr10 91087733 91087762 CAGE_peak_1_at_IFIT3_5end
chr10 91087766 91087777 CAGE_peak_3_at_IFIT3_5end
chr10 91092277 91092294 CAGE_peak_2_at_IFIT3_5end
chr10 91098700 91098726 CAGE_peak_5_at_IFIT3_5end
chr10 91098875 91098881 CAGE_peak_8_at_IFIT3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I089122 89122355 89123905 0.91 [{'connected_gene': 'CH25H', 'score': 10.82}, {'connected_gene': 'IFIT5', 'score': 10.77}, {'connected_gene': 'IFIT3', 'score': 7.34}, {'connected_gene': 'IFIT2', 'score': 6.78}, {'connected_gene': 'ANKRD22', 'score': 2.59}, {'connected_gene': 'IFIT1', 'score': 2.29}, {'connected_gene': 'LIPN', 'score': 1.55}, {'connected_gene': 'GC10P089110', 'score': 0.37}, {'connected_gene': 'LOC100289238', 'score': 0.37}]
chr10 GH10I089265 89265629 89266264 0.2 [{'connected_gene': 'IFIT1B', 'score': 11.77}, {'connected_gene': 'IFIT3', 'score': 11.2}, {'connected_gene': 'IFIT1', 'score': 11.17}, {'connected_gene': 'SLC16A12-AS1', 'score': 9.31}, {'connected_gene': 'IFIT5', 'score': 4.58}, {'connected_gene': 'IFIT2', 'score': 0.37}, {'connected_gene': 'GC10P089210', 'score': 0.22}, {'connected_gene': 'GC10M089235', 'score': 0.13}, {'connected_gene': 'LIPA', 'score': 0.11}]
chr10 GH10I089355 89355584 89355733 0.92 [{'connected_gene': 'IFIT1B', 'score': 11.97}, {'connected_gene': 'ENSG00000232110', 'score': 11.92}, {'connected_gene': 'IFIT3', 'score': 11.9}, {'connected_gene': 'IFIT1', 'score': 11.01}, {'connected_gene': 'IFIT6P', 'score': 0.44}, {'connected_gene': 'LOC101926887', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.31}, {'connected_gene': 'LIPA', 'score': 0.22}]
chr10 GH10I089335 89335504 89335522 0.51 [{'connected_gene': 'IFIT1B', 'score': 11.75}, {'connected_gene': 'ENSG00000232110', 'score': 11.55}, {'connected_gene': 'IFIT2', 'score': 11.46}, {'connected_gene': 'LOC101926887', 'score': 0.44}, {'connected_gene': 'IFIT3', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.25}, {'connected_gene': 'LIPA', 'score': 0.18}]
chr10 GH10I089291 89291043 89292254 0.31 [{'connected_gene': 'IFIT3', 'score': 11.9}, {'connected_gene': 'IFIT1B', 'score': 11.18}, {'connected_gene': 'IFIT1', 'score': 10.76}, {'connected_gene': 'FAS', 'score': 9.0}, {'connected_gene': 'ENSG00000232110', 'score': 0.44}, {'connected_gene': 'IFIT2', 'score': 0.44}, {'connected_gene': 'LOC105378419', 'score': 0.34}, {'connected_gene': 'GC10M089235', 'score': 0.17}, {'connected_gene': 'LIPA', 'score': 0.13}]
chr10 GH10I089269 89269800 89271417 0.8 [{'connected_gene': 'IFIT3', 'score': 12.07}, {'connected_gene': 'IFIT1B', 'score': 10.88}, {'connected_gene': 'IFIT2', 'score': 0.39}, {'connected_gene': 'GC10P089210', 'score': 0.21}, {'connected_gene': 'GC10M089235', 'score': 0.14}, {'connected_gene': 'LIPA', 'score': 0.11}]
chr10 GH10I089273 89273364 89281256 1.27 [{'connected_gene': 'IFIT3', 'score': 12.08}, {'connected_gene': 'IFIT1B', 'score': 10.88}, {'connected_gene': 'ENSG00000232110', 'score': 5.35}, {'connected_gene': 'IFIT2', 'score': 0.44}, {'connected_gene': 'LOC105378419', 'score': 0.28}, {'connected_gene': 'GC10P089210', 'score': 0.2}, {'connected_gene': 'GC10M089235', 'score': 0.15}, {'connected_gene': 'LIPA', 'score': 0.12}]
chr10 GH10I089384 89384401 89385600 0.51 [{'connected_gene': 'IFIT3', 'score': 11.71}, {'connected_gene': 'GC10M089235', 'score': 0.77}, {'connected_gene': 'IFIT1', 'score': 0.44}, {'connected_gene': 'IFIT1B', 'score': 0.44}, {'connected_gene': 'LIPA', 'score': 0.31}]
chr10 GH10I089260 89260004 89265043 1.53 [{'connected_gene': 'IFIT3', 'score': 16.68}, {'connected_gene': 'IFIT2', 'score': 15.92}, {'connected_gene': 'IFIT1', 'score': 13.4}, {'connected_gene': 'IFIT1B', 'score': 11.76}, {'connected_gene': 'SLC16A12-AS1', 'score': 9.31}, {'connected_gene': 'IFIT5', 'score': 7.55}, {'connected_gene': 'ENSG00000232110', 'score': 5.14}, {'connected_gene': 'GC10P089210', 'score': 0.23}, {'connected_gene': 'GC10M089235', 'score': 0.13}, {'connected_gene': 'LIPA', 'score': 0.1}]
chr10 GH10I089163 89163264 89164600 1.15 [{'connected_gene': 'IFIT3', 'score': 42.47}, {'connected_gene': 'IFIT2', 'score': 38.85}, {'connected_gene': 'IFIT5', 'score': 29.39}, {'connected_gene': 'IFIT1', 'score': 7.43}, {'connected_gene': 'CH25H', 'score': 5.44}, {'connected_gene': 'ANKRD22', 'score': 2.45}, {'connected_gene': 'FAS', 'score': 1.53}, {'connected_gene': 'GC10P089171', 'score': 0.44}, {'connected_gene': 'LOC100289238', 'score': 0.34}]
chr10 GH10I089295 89295017 89298034 1.2 [{'connected_gene': 'IFIT3', 'score': 54.04}, {'connected_gene': 'IFIT2', 'score': 40.86}, {'connected_gene': 'IFIT5', 'score': 36.17}, {'connected_gene': 'IFIT1', 'score': 18.4}, {'connected_gene': 'IFIT1B', 'score': 11.19}, {'connected_gene': 'FAS', 'score': 10.34}, {'connected_gene': 'ENSG00000232110', 'score': 0.39}, {'connected_gene': 'LOC105378419', 'score': 0.37}, {'connected_gene': 'GC10M089235', 'score': 0.18}, {'connected_gene': 'LIPA', 'score': 0.13}]
chr10 GH10I089234 89234464 89236013 0.86 [{'connected_gene': 'IFIT3', 'score': 29.88}, {'connected_gene': 'IFIT2', 'score': 23.62}, {'connected_gene': 'IFIT5', 'score': 19.69}, {'connected_gene': 'IFIT1', 'score': 4.54}, {'connected_gene': 'ANKRD22', 'score': 2.24}, {'connected_gene': 'FAS', 'score': 1.46}, {'connected_gene': 'GC10P089210', 'score': 0.31}, {'connected_gene': 'GC10M089235', 'score': 0.11}, {'connected_gene': 'LIPA', 'score': 0.1}]
chr10 GH10I089156 89156202 89156279 0.33 [{'connected_gene': 'IFIT3', 'score': 20.64}, {'connected_gene': 'IFIT2', 'score': 18.89}, {'connected_gene': 'IFIT5', 'score': 18.18}, {'connected_gene': 'IFIT1', 'score': 5.89}, {'connected_gene': 'LOC100289238', 'score': 0.37}, {'connected_gene': 'GC10P089171', 'score': 0.37}]
chr10 GH10I089330 89330107 89335327 2.11 [{'connected_gene': 'IFIT3', 'score': 550.77}, {'connected_gene': 'IFIT5', 'score': 23.17}, {'connected_gene': 'IFIT2', 'score': 11.83}, {'connected_gene': 'IFIT1B', 'score': 11.73}, {'connected_gene': 'ENSG00000232110', 'score': 11.7}, {'connected_gene': 'IFIT1', 'score': 11.28}, {'connected_gene': 'LOC101926887', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.25}, {'connected_gene': 'LIPA', 'score': 0.18}]
chr10 GH10I089326 89326186 89329839 2.12 [{'connected_gene': 'IFIT3', 'score': 550.77}, {'connected_gene': 'IFIT5', 'score': 26.28}, {'connected_gene': 'IFIT2', 'score': 11.84}, {'connected_gene': 'ENSG00000232110', 'score': 11.27}, {'connected_gene': 'IFIT1', 'score': 11.27}, {'connected_gene': 'LOC101926887', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.23}, {'connected_gene': 'LIPA', 'score': 0.17}]
chr10 GH10I089336 89336284 89336540 0.54 [{'connected_gene': 'IFIT2', 'score': 15.05}, {'connected_gene': 'IFIT1B', 'score': 11.75}, {'connected_gene': 'IFIT5', 'score': 11.64}, {'connected_gene': 'ENSG00000232110', 'score': 11.55}, {'connected_gene': 'IFIT3', 'score': 4.41}, {'connected_gene': 'IFIT1', 'score': 1.71}, {'connected_gene': 'LOC101926887', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.26}, {'connected_gene': 'LIPA', 'score': 0.18}]
chr10 GH10I089339 89339250 89341961 0.74 [{'connected_gene': 'IFIT5', 'score': 18.01}, {'connected_gene': 'IFIT1B', 'score': 11.78}, {'connected_gene': 'ENSG00000232110', 'score': 11.54}, {'connected_gene': 'IFIT2', 'score': 11.45}, {'connected_gene': 'LOC101926887', 'score': 0.77}, {'connected_gene': 'IFIT3', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.26}, {'connected_gene': 'LIPA', 'score': 0.19}]
chr10 GH10I089345 89345719 89353607 1.35 [{'connected_gene': 'IFIT5', 'score': 14.61}, {'connected_gene': 'IFIT3', 'score': 12.71}, {'connected_gene': 'KIF20B', 'score': 12.52}, {'connected_gene': 'IFIT1B', 'score': 11.94}, {'connected_gene': 'ENSG00000232110', 'score': 11.93}, {'connected_gene': 'IFIT2', 'score': 11.76}, {'connected_gene': 'IFIT1', 'score': 11.12}, {'connected_gene': 'LOC101926887', 'score': 0.44}, {'connected_gene': 'IFIT6P', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.29}, {'connected_gene': 'LIPA', 'score': 0.21}]
chr10 GH10I089367 89367319 89368471 0.87 [{'connected_gene': 'IFIT5', 'score': 15.17}, {'connected_gene': 'IFIT3', 'score': 11.84}, {'connected_gene': 'IFIT1', 'score': 11.54}, {'connected_gene': 'ENSG00000232110', 'score': 11.46}, {'connected_gene': 'LIPA', 'score': 10.59}, {'connected_gene': 'IFIT6P', 'score': 0.44}, {'connected_gene': 'IFIT1B', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.39}]
chr10 GH10I089368 89368878 89369813 0.96 [{'connected_gene': 'IFIT5', 'score': 20.53}, {'connected_gene': 'IFIT1', 'score': 15.97}, {'connected_gene': 'IFIT3', 'score': 11.84}, {'connected_gene': 'ENSG00000232110', 'score': 11.45}, {'connected_gene': 'IFIT2', 'score': 11.39}, {'connected_gene': 'LIPA', 'score': 10.59}, {'connected_gene': 'IFIT6P', 'score': 0.44}, {'connected_gene': 'IFIT1B', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.39}]
chr10 GH10I089337 89336893 89338067 1.09 [{'connected_gene': 'IFIT5', 'score': 26.29}, {'connected_gene': 'IFIT2', 'score': 24.19}, {'connected_gene': 'IFIT3', 'score': 14.03}, {'connected_gene': 'IFIT1B', 'score': 11.75}, {'connected_gene': 'ENSG00000232110', 'score': 11.55}, {'connected_gene': 'IFIT1', 'score': 4.01}, {'connected_gene': 'LOC101926887', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.26}, {'connected_gene': 'LIPA', 'score': 0.18}]
chr10 GH10I088857 88857713 88859416 0.67 [{'connected_gene': 'ANKRD22', 'score': 35.89}, {'connected_gene': 'STAMBPL1', 'score': 12.01}, {'connected_gene': 'IFIT3', 'score': 3.77}, {'connected_gene': 'IFIT2', 'score': 1.66}, {'connected_gene': 'PTCD2P2', 'score': 0.37}, {'connected_gene': 'GC10M088853', 'score': 0.11}]
chr10 GH10I088850 88850001 88854199 1.76 [{'connected_gene': 'ANKRD22', 'score': 588.65}, {'connected_gene': 'STAMBPL1', 'score': 11.67}, {'connected_gene': 'IFIT3', 'score': 4.22}, {'connected_gene': 'IFIT2', 'score': 2.09}, {'connected_gene': 'PTCD2P2', 'score': 0.34}, {'connected_gene': 'GC10M088853', 'score': 0.11}]
chr10 GH10I088848 88848341 88849648 1.12 [{'connected_gene': 'ANKRD22', 'score': 12.83}, {'connected_gene': 'STAMBPL1', 'score': 11.37}, {'connected_gene': 'LIPM', 'score': 9.8}, {'connected_gene': 'FAS', 'score': 9.74}, {'connected_gene': 'IFIT3', 'score': 2.97}, {'connected_gene': 'IFIT2', 'score': 2.5}, {'connected_gene': 'LIPN', 'score': 1.85}]
chr10 GH10I088841 88841569 88841898 0.61 [{'connected_gene': 'ANKRD22', 'score': 54.72}, {'connected_gene': 'STAMBPL1', 'score': 17.09}, {'connected_gene': 'ACTA2-AS1', 'score': 11.14}, {'connected_gene': 'LIPM', 'score': 10.05}, {'connected_gene': 'IFIT3', 'score': 3.37}, {'connected_gene': 'IFIT2', 'score': 1.57}]
chr10 GH10I088840 88840020 88841493 1 [{'connected_gene': 'ANKRD22', 'score': 20.79}, {'connected_gene': 'STAMBPL1', 'score': 17.76}, {'connected_gene': 'ACTA2-AS1', 'score': 11.73}, {'connected_gene': 'FAS', 'score': 10.36}, {'connected_gene': 'LIPM', 'score': 10.05}, {'connected_gene': 'IFIT3', 'score': 2.19}, {'connected_gene': 'IFIT2', 'score': 1.58}, {'connected_gene': 'LIPN', 'score': 1.52}]
chr10 GH10I088833 88833844 88834033 0.6 [{'connected_gene': 'ANKRD22', 'score': 12.11}, {'connected_gene': 'ACTA2-AS1', 'score': 11.82}, {'connected_gene': 'STAMBPL1', 'score': 11.22}, {'connected_gene': 'LIPM', 'score': 9.92}, {'connected_gene': 'LIPF', 'score': 9.01}, {'connected_gene': 'LIPN', 'score': 3.72}, {'connected_gene': 'FAS', 'score': 3.36}, {'connected_gene': 'LIPK', 'score': 3.31}, {'connected_gene': 'IFIT3', 'score': 1.54}, {'connected_gene': 'IFIT2', 'score': 1.16}]
chr10 GH10I088837 88837652 88838051 0.3 [{'connected_gene': 'ANKRD22', 'score': 19.83}, {'connected_gene': 'ACTA2-AS1', 'score': 11.82}, {'connected_gene': 'STAMBPL1', 'score': 11.23}, {'connected_gene': 'LIPM', 'score': 9.9}, {'connected_gene': 'LIPF', 'score': 9.0}, {'connected_gene': 'IFIT3', 'score': 4.35}, {'connected_gene': 'IFIT2', 'score': 2.77}, {'connected_gene': 'LIPN', 'score': 1.26}]
chr10 GH10I088860 88860853 88861343 0.4 [{'connected_gene': 'ANKRD22', 'score': 28.36}, {'connected_gene': 'ACTA2-AS1', 'score': 10.74}, {'connected_gene': 'FAS', 'score': 9.88}, {'connected_gene': 'LIPM', 'score': 9.73}, {'connected_gene': 'LIPJ', 'score': 9.1}, {'connected_gene': 'RNLS', 'score': 9.1}, {'connected_gene': 'ENSG00000201548', 'score': 9.1}, {'connected_gene': 'IFIT3', 'score': 3.83}, {'connected_gene': 'IFIT2', 'score': 1.54}, {'connected_gene': 'PTCD2P2', 'score': 0.37}, {'connected_gene': 'GC10M088853', 'score': 0.11}]
chr10 GH10I089241 89241003 89243886 1.48 [{'connected_gene': 'LIPA', 'score': 33.65}, {'connected_gene': 'ANKRD22', 'score': 12.49}, {'connected_gene': 'ENSG00000232110', 'score': 10.75}, {'connected_gene': 'IFIT1B', 'score': 10.59}, {'connected_gene': 'CH25H', 'score': 10.48}, {'connected_gene': 'IFIT3', 'score': 6.34}, {'connected_gene': 'IFIT5', 'score': 4.23}, {'connected_gene': 'IFIT2', 'score': 4.21}, {'connected_gene': 'GC10P089210', 'score': 0.29}, {'connected_gene': 'GC10M089235', 'score': 0.12}]
chr10 GH10I089314 89314064 89316099 0.2 [{'connected_gene': 'LOC105378419', 'score': 550.77}, {'connected_gene': 'IFIT5', 'score': 35.34}, {'connected_gene': 'ENSG00000232110', 'score': 11.45}, {'connected_gene': 'IFIT1B', 'score': 11.06}, {'connected_gene': 'LIPA', 'score': 10.45}, {'connected_gene': 'IFIT3', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.2}]
chr10 GH10I088835 88835054 88836030 1.23 [{'connected_gene': 'ACTA2-AS1', 'score': 11.82}, {'connected_gene': 'STAMBPL1', 'score': 11.23}, {'connected_gene': 'LIPM', 'score': 9.92}, {'connected_gene': 'LIPF', 'score': 9.0}, {'connected_gene': 'ANKRD22', 'score': 5.67}, {'connected_gene': 'FAS', 'score': 2.04}, {'connected_gene': 'LIPN', 'score': 2.0}, {'connected_gene': 'IFIT3', 'score': 1.85}, {'connected_gene': 'IFIT2', 'score': 1.14}]
chr10 GH10I088838 88838838 88839280 0.41 [{'connected_gene': 'ACTA2-AS1', 'score': 11.73}, {'connected_gene': 'STAMBPL1', 'score': 11.26}, {'connected_gene': 'FAS', 'score': 10.35}, {'connected_gene': 'ANKRD22', 'score': 8.0}, {'connected_gene': 'IFIT3', 'score': 4.87}, {'connected_gene': 'IFIT2', 'score': 4.22}, {'connected_gene': 'LIPN', 'score': 2.17}, {'connected_gene': 'LIPM', 'score': 0.28}]
chr10 GH10I089363 89363084 89363173 0.65 [{'connected_gene': 'IFIT6P', 'score': 550.77}, {'connected_gene': 'IFIT3', 'score': 11.85}, {'connected_gene': 'IFIT1', 'score': 11.51}, {'connected_gene': 'ENSG00000232110', 'score': 11.46}, {'connected_gene': 'LIPA', 'score': 10.58}, {'connected_gene': 'IFIT5', 'score': 10.58}, {'connected_gene': 'IFIT1B', 'score': 0.39}, {'connected_gene': 'GC10M089235', 'score': 0.37}]
chr10 GH10I089282 89282614 89285719 1.02 [{'connected_gene': 'ENSG00000232110', 'score': 550.77}, {'connected_gene': 'IFIT2', 'score': 550.77}, {'connected_gene': 'IFIT3', 'score': 11.85}, {'connected_gene': 'IFIT1B', 'score': 11.18}, {'connected_gene': 'LOC105378419', 'score': 0.29}, {'connected_gene': 'GC10M089235', 'score': 0.15}, {'connected_gene': 'LIPA', 'score': 0.12}]

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