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
ENST00000478193 [[73975786, 73975830], [73990123, 73990198], [73992758, 73993373]] None
ENST00000299381 [[73975805, 73975896], [73983645, 73983814], [73990123, 73990198], [73992758, 73995618]] [[73983672, 73983814], [73990123, 73990198], [73992758, 73992874]]
ENST00000470481 [[73982890, 73983814], [73990123, 73990198], [73992758, 73993587]] None
NR_038391 [[73975757, 73975830], [73990123, 73990198], [73992758, 73995618]] None
NM_001242548 [[73975757, 73975830], [73983645, 73983814], [73992758, 73995618]] [[73983672, 73983814], [73992758, 73992874]]
NM_001242547 [[73975757, 73975830], [73983645, 73983814], [73990123, 73990198], [73992758, 73995618]] [[73983672, 73983814], [73990123, 73990198], [73992758, 73992874]]
NR_038392 [[73975757, 73975896], [73990123, 73990198], [73992758, 73995618]] None
NM_173473 [[73975757, 73975896], [73983645, 73983814], [73990123, 73990198], [73992758, 73995618]] [[73983672, 73983814], [73990123, 73990198], [73992758, 73992874]]
NM_001242546 [[73975757, 73975896], [73979811, 73980137], [73983645, 73983814], [73990123, 73990198], [73992758, 73995618]] [[73983672, 73983814], [73990123, 73990198], [73992758, 73992874]]
Promoter
Chrom Start End Description
chr10 73975408 73975422 CAGE_peak_5_at_ANAPC16_5end
chr10 73975426 73975451 CAGE_peak_3_at_ANAPC16_5end
chr10 73975453 73975466 CAGE_peak_4_at_ANAPC16_5end
chr10 73975742 73975830 CAGE_peak_1_at_ANAPC16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I072083 72083036 72090905 2.3 [{'connected_gene': 'SPOCK2', 'score': 573.55}, {'connected_gene': 'CHST3', 'score': 5.8}, {'connected_gene': 'ANAPC16', 'score': 1.31}, {'connected_gene': 'GC10P072062', 'score': 0.34}]
chr10 GH10I072095 72095865 72100019 1.48 [{'connected_gene': 'SPOCK2', 'score': 13.93}, {'connected_gene': 'ENSG00000200294', 'score': 10.5}, {'connected_gene': 'ANAPC16', 'score': 5.22}, {'connected_gene': 'GC10P072226', 'score': 0.18}, {'connected_gene': 'ASCC1', 'score': 0.13}]
chr10 GH10I071844 71844912 71852977 2.55 [{'connected_gene': 'PSAP', 'score': 562.41}, {'connected_gene': 'VSIR', 'score': 12.85}, {'connected_gene': 'C10orf105', 'score': 10.32}, {'connected_gene': 'ANAPC16', 'score': 4.56}, {'connected_gene': 'MICU1', 'score': 4.46}, {'connected_gene': 'DDIT4', 'score': 1.3}, {'connected_gene': 'RNU7-38P', 'score': 0.77}]
chr10 GH10I071802 71802105 71803882 0.43 [{'connected_gene': 'PSAP', 'score': 5.45}, {'connected_gene': 'ANAPC16', 'score': 4.77}, {'connected_gene': 'MIR7152', 'score': 0.39}, {'connected_gene': 'PIR48719', 'score': 0.37}, {'connected_gene': 'GC10M071820', 'score': 0.37}, {'connected_gene': 'CDH23', 'score': 0.05}]
chr10 GH10I071824 71824834 71827166 0.31 [{'connected_gene': 'VSIR', 'score': 22.62}, {'connected_gene': 'PSAP', 'score': 17.27}, {'connected_gene': 'ANAPC16', 'score': 4.28}, {'connected_gene': 'PIR48719', 'score': 0.44}, {'connected_gene': 'GC10M071820', 'score': 0.44}, {'connected_gene': 'GC10M071845', 'score': 0.37}]
chr10 GH10I071835 71835402 71841743 1.65 [{'connected_gene': 'VSIR', 'score': 8.29}, {'connected_gene': 'ANAPC16', 'score': 4.65}, {'connected_gene': 'PSAP', 'score': 4.05}, {'connected_gene': 'GC10M071845', 'score': 0.44}, {'connected_gene': 'PIR48719', 'score': 0.37}, {'connected_gene': 'GC10M071820', 'score': 0.37}]
chr10 GH10I072307 72307590 72311405 1.75 [{'connected_gene': 'DNAJB12', 'score': 31.09}, {'connected_gene': 'DDIT4', 'score': 19.46}, {'connected_gene': 'RPL17P50', 'score': 13.61}, {'connected_gene': 'ECD', 'score': 12.79}, {'connected_gene': 'ENSG00000200170', 'score': 11.09}, {'connected_gene': 'ANAPC16', 'score': 11.08}, {'connected_gene': 'ASCC1', 'score': 11.08}, {'connected_gene': 'PSAP', 'score': 10.72}, {'connected_gene': 'DDIT4-AS1', 'score': 0.29}]
chr10 GH10I072885 72885063 72888592 1.06 [{'connected_gene': 'DNAJB12', 'score': 17.73}, {'connected_gene': 'GLUD1P3', 'score': 16.92}, {'connected_gene': 'DUSP8P5', 'score': 15.71}, {'connected_gene': 'ENSG00000272140', 'score': 15.02}, {'connected_gene': 'RPL17P50', 'score': 13.71}, {'connected_gene': 'ECD', 'score': 12.82}, {'connected_gene': 'AGAP5', 'score': 12.55}, {'connected_gene': 'ENSG00000224195', 'score': 12.07}, {'connected_gene': 'ENSG00000242288', 'score': 11.97}, {'connected_gene': 'BMS1P4', 'score': 11.53}, {'connected_gene': 'SEC24C', 'score': 11.24}, {'connected_gene': 'ANAPC16', 'score': 5.72}, {'connected_gene': 'OIT3', 'score': 0.44}, {'connected_gene': 'ENSG00000272627', 'score': 0.13}, {'connected_gene': 'MCU', 'score': 0.08}]
chr10 GH10I072232 72232363 72233297 0.63 [{'connected_gene': 'DNAJB12', 'score': 10.38}, {'connected_gene': 'RPL15P14', 'score': 8.2}, {'connected_gene': 'NUDT13', 'score': 4.53}, {'connected_gene': 'ENSG00000200170', 'score': 0.39}, {'connected_gene': 'ANAPC16', 'score': 0.37}, {'connected_gene': 'GC10M072248', 'score': 0.37}]
chr10 GH10I072270 72270498 72279035 2.36 [{'connected_gene': 'DDIT4', 'score': 550.77}, {'connected_gene': 'DDIT4-AS1', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 80.39}, {'connected_gene': 'ECD', 'score': 76.47}, {'connected_gene': 'ENSG00000227540', 'score': 36.27}, {'connected_gene': 'FAM149B1', 'score': 32.45}, {'connected_gene': 'RPL17P50', 'score': 23.61}, {'connected_gene': 'DNAJC9', 'score': 21.96}, {'connected_gene': 'ASCC1', 'score': 16.06}, {'connected_gene': 'ENSG00000272630', 'score': 11.74}, {'connected_gene': 'ENSG00000200170', 'score': 11.45}, {'connected_gene': 'ANAPC16', 'score': 11.44}, {'connected_gene': 'ENSG00000272599', 'score': 11.19}, {'connected_gene': 'CHST3', 'score': 10.14}, {'connected_gene': 'EIF4A2P2', 'score': 9.95}, {'connected_gene': 'NUDT13', 'score': 4.71}]
chr10 GH10I072126 72126201 72126600 0.79 [{'connected_gene': 'ASCC1', 'score': 22.84}, {'connected_gene': 'ANAPC16', 'score': 11.48}, {'connected_gene': 'ENSG00000200170', 'score': 11.47}, {'connected_gene': 'SPOCK2', 'score': 11.32}, {'connected_gene': 'GC10P072226', 'score': 0.23}]
chr10 GH10I072146 72146093 72146763 0.38 [{'connected_gene': 'ASCC1', 'score': 23.14}, {'connected_gene': 'ANAPC16', 'score': 11.63}, {'connected_gene': 'ENSG00000200170', 'score': 11.62}, {'connected_gene': 'ENSG00000200294', 'score': 11.01}, {'connected_gene': 'GC10P072226', 'score': 0.29}, {'connected_gene': 'SPOCK2', 'score': 0.22}]
chr10 GH10I072134 72134673 72136006 0.49 [{'connected_gene': 'C10orf105', 'score': 13.04}, {'connected_gene': 'ANAPC16', 'score': 11.81}, {'connected_gene': 'ASCC1', 'score': 11.81}, {'connected_gene': 'ENSG00000200170', 'score': 11.8}, {'connected_gene': 'ENSG00000200294', 'score': 11.39}, {'connected_gene': 'RPL15P14', 'score': 7.14}, {'connected_gene': 'SPOCK2', 'score': 0.25}, {'connected_gene': 'GC10P072226', 'score': 0.25}]
chr10 GH10I072124 72124722 72125690 0.31 [{'connected_gene': 'ANAPC16', 'score': 11.02}, {'connected_gene': 'ASCC1', 'score': 11.02}, {'connected_gene': 'ENSG00000200170', 'score': 11.02}, {'connected_gene': 'SPOCK2', 'score': 10.75}, {'connected_gene': 'ENSG00000200294', 'score': 10.51}, {'connected_gene': 'GC10P072226', 'score': 0.22}]
chr10 GH10I072133 72133663 72133832 0.8 [{'connected_gene': 'ANAPC16', 'score': 11.81}, {'connected_gene': 'ASCC1', 'score': 11.81}, {'connected_gene': 'ENSG00000200170', 'score': 11.8}, {'connected_gene': 'ENSG00000200294', 'score': 11.39}, {'connected_gene': 'SPOCK2', 'score': 0.26}, {'connected_gene': 'GC10P072226', 'score': 0.25}]
chr10 GH10I072131 72131983 72132766 0.57 [{'connected_gene': 'ANAPC16', 'score': 11.81}, {'connected_gene': 'ASCC1', 'score': 11.81}, {'connected_gene': 'ENSG00000200170', 'score': 11.8}, {'connected_gene': 'ENSG00000200294', 'score': 11.39}, {'connected_gene': 'SPOCK2', 'score': 11.23}, {'connected_gene': 'GC10P072226', 'score': 0.25}]
chr10 GH10I072238 72238050 72239070 0.4 [{'connected_gene': 'ANAPC16', 'score': 12.32}, {'connected_gene': 'ASCC1', 'score': 12.32}, {'connected_gene': 'DDIT4', 'score': 12.25}, {'connected_gene': 'DNAJB12', 'score': 12.21}, {'connected_gene': 'NUDT13', 'score': 4.41}, {'connected_gene': 'GC10M072248', 'score': 0.39}, {'connected_gene': 'ENSG00000200170', 'score': 0.37}]
chr10 GH10I072212 72212984 72220048 2.52 [{'connected_gene': 'ANAPC16', 'score': 559.81}, {'connected_gene': 'ASCC1', 'score': 556.29}, {'connected_gene': 'ENSG00000272630', 'score': 11.74}, {'connected_gene': 'RPL15P14', 'score': 9.17}, {'connected_gene': 'DNAJB12', 'score': 9.16}, {'connected_gene': 'NUDT13', 'score': 4.56}, {'connected_gene': 'FAM149B1', 'score': 4.2}]
chr10 GH10I072204 72204483 72204632 0.91 [{'connected_gene': 'ECD', 'score': 16.1}, {'connected_gene': 'RPL17P50', 'score': 9.82}, {'connected_gene': 'CHST3', 'score': 9.74}, {'connected_gene': 'NUDT13', 'score': 4.0}, {'connected_gene': 'ANAPC16', 'score': 0.39}, {'connected_gene': 'ASCC1', 'score': 0.39}, {'connected_gene': 'RPL15P14', 'score': 0.39}]
chr10 GH10I072197 72197923 72199011 0.69 [{'connected_gene': 'RPL15P14', 'score': 10.31}, {'connected_gene': 'ANAPC16', 'score': 0.37}, {'connected_gene': 'ASCC1', 'score': 0.37}]
chr10 GH10I072235 72235810 72237701 0.43 [{'connected_gene': 'RPL15P14', 'score': 7.85}, {'connected_gene': 'GC10M072248', 'score': 0.39}, {'connected_gene': 'ENSG00000200170', 'score': 0.37}, {'connected_gene': 'ANAPC16', 'score': 0.34}]
chr10 GH10I071817 71817305 71820521 0.71 [{'connected_gene': 'PIR48719', 'score': 550.77}, {'connected_gene': 'GC10M071820', 'score': 550.77}, {'connected_gene': 'CDH23', 'score': 6.82}, {'connected_gene': 'VSIR', 'score': 6.81}, {'connected_gene': 'PSAP', 'score': 4.87}, {'connected_gene': 'ANAPC16', 'score': 4.23}, {'connected_gene': 'MIR7152', 'score': 0.31}]
chr10 GH10I072226 72226755 72227123 0.53 [{'connected_gene': 'ENSG00000200294', 'score': 10.87}, {'connected_gene': 'CDH23', 'score': 4.29}, {'connected_gene': 'C10orf105', 'score': 1.8}, {'connected_gene': 'VSIR', 'score': 1.29}, {'connected_gene': 'ENSG00000200170', 'score': 0.44}, {'connected_gene': 'ANAPC16', 'score': 0.39}, {'connected_gene': 'GC10M072248', 'score': 0.34}]
chr10 GH10I072227 72227930 72229033 1.1 [{'connected_gene': 'ENSG00000200294', 'score': 10.87}, {'connected_gene': 'DNAJB12', 'score': 10.17}, {'connected_gene': 'ASCC1', 'score': 7.21}, {'connected_gene': 'FAM149B1', 'score': 4.19}, {'connected_gene': 'ENSG00000272630', 'score': 4.11}, {'connected_gene': 'ENSG00000200170', 'score': 0.44}, {'connected_gene': 'ANAPC16', 'score': 0.39}, {'connected_gene': 'GC10M072248', 'score': 0.34}]
chr10 GH10I072221 72221896 72222277 0.2 [{'connected_gene': 'GC10P072221', 'score': 550.77}, {'connected_gene': 'ENSG00000200170', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 9.58}, {'connected_gene': 'ASCC1', 'score': 4.78}, {'connected_gene': 'ANAPC16', 'score': 0.44}, {'connected_gene': 'GC10M072248', 'score': 0.31}]
chr10 GH10I072220 72220215 72220812 0.31 [{'connected_gene': 'GC10P072221', 'score': 550.77}, {'connected_gene': 'ENSG00000200170', 'score': 550.77}, {'connected_gene': 'DNAJB12', 'score': 8.91}, {'connected_gene': 'ANAPC16', 'score': 0.77}, {'connected_gene': 'ASCC1', 'score': 0.77}]
chr10 GH10I072229 72229334 72231597 1.06 [{'connected_gene': 'ENSG00000200294', 'score': 10.87}, {'connected_gene': 'ASCC1', 'score': 4.88}, {'connected_gene': 'FAM149B1', 'score': 4.06}, {'connected_gene': 'ENSG00000272630', 'score': 3.91}, {'connected_gene': 'ENSG00000200170', 'score': 0.44}, {'connected_gene': 'ANAPC16', 'score': 0.39}, {'connected_gene': 'GC10M072248', 'score': 0.37}]
chr10 GH10I072222 72222515 72224558 1.16 [{'connected_gene': 'ENSG00000200294', 'score': 11.16}, {'connected_gene': 'ASCC1', 'score': 4.47}, {'connected_gene': 'NUDT13', 'score': 4.02}, {'connected_gene': 'ENSG00000200170', 'score': 0.77}, {'connected_gene': 'ANAPC16', 'score': 0.44}, {'connected_gene': 'GC10M072248', 'score': 0.31}]
chr10 GH10I072225 72225966 72226673 0.38 [{'connected_gene': 'ENSG00000200294', 'score': 10.87}, {'connected_gene': 'ASCC1', 'score': 4.49}, {'connected_gene': 'ENSG00000200170', 'score': 0.44}, {'connected_gene': 'ANAPC16', 'score': 0.39}, {'connected_gene': 'GC10M072248', 'score': 0.34}]
chr10 GH10I072236 72234703 72234812 0.4 [{'connected_gene': 'GC10M072248', 'score': 0.39}, {'connected_gene': 'ENSG00000200170', 'score': 0.39}, {'connected_gene': 'ANAPC16', 'score': 0.37}]
chr10 GH10I072234 72234250 72234618 0.31 [{'connected_gene': 'GC10M072248', 'score': 0.39}, {'connected_gene': 'ENSG00000200170', 'score': 0.39}, {'connected_gene': 'ANAPC16', 'score': 0.37}]
chr10 GH10I072241 72241402 72258199 2 [{'connected_gene': 'GC10M072248', 'score': 550.77}, {'connected_gene': 'ECD', 'score': 93.21}, {'connected_gene': 'DNAJB12', 'score': 81.67}, {'connected_gene': 'RPL17P50', 'score': 28.14}, {'connected_gene': 'ENSG00000272599', 'score': 21.14}, {'connected_gene': 'ASCC1', 'score': 17.73}, {'connected_gene': 'DDIT4', 'score': 15.03}, {'connected_gene': 'CHST3', 'score': 12.95}, {'connected_gene': 'DNAJC9', 'score': 12.46}, {'connected_gene': 'ENSG00000200170', 'score': 12.29}, {'connected_gene': 'ANAPC16', 'score': 12.28}, {'connected_gene': 'ENSG00000272630', 'score': 11.15}, {'connected_gene': 'RPL15P14', 'score': 7.09}, {'connected_gene': 'NUDT13', 'score': 5.65}, {'connected_gene': 'SLC29A3', 'score': 5.61}, {'connected_gene': 'PSAP', 'score': 5.28}, {'connected_gene': 'MICU1', 'score': 4.1}, {'connected_gene': 'VSIR', 'score': 1.81}]

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