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
ENST00000601438 [[47724080, 47725825]] None
ENST00000449228 [[47724080, 47725175], [47729820, 47730011], [47731414, 47731703], [47735771, 47736023]] [[47724957, 47725175], [47729820, 47730011], [47731414, 47731703], [47735771, 47735859]]
ENST00000300880 [[47724080, 47725175], [47735771, 47736023]] [[47724957, 47725175], [47735771, 47735859]]
ENST00000341983 [[47724080, 47725175], [47729820, 47730011], [47735771, 47736023]] [[47725058, 47725175], [47729820, 47730011], [47735771, 47735859]]
ENST00000439096 [[47724083, 47725175], [47729820, 47730011], [47731414, 47731703], [47734185, 47734451]] [[47725058, 47725175], [47729820, 47730011], [47731414, 47731688]]
ENST00000598636 [[47724901, 47725175], [47729820, 47730446]] None
NM_014417 [[47724078, 47725175], [47729820, 47730011], [47731414, 47731703], [47734185, 47734451]] [[47725058, 47725175], [47729820, 47730011], [47731414, 47731688]]
NM_001127240 [[47724078, 47725175], [47729820, 47730011], [47731414, 47731703], [47735771, 47736023]] [[47724957, 47725175], [47729820, 47730011], [47731414, 47731703], [47735771, 47735859]]
NM_001127241 [[47724078, 47725175], [47729820, 47730011], [47735771, 47736023]] [[47725058, 47725175], [47729820, 47730011], [47735771, 47735859]]
NM_001127242 [[47724078, 47725175], [47735771, 47736023]] [[47724957, 47725175], [47735771, 47735859]]
Promoter
Chrom Start End Description
chr19 47734425 47734445 CAGE_peak_2_at_BBC3_5end
chr19 47734448 47734466 CAGE_peak_1_at_BBC3_5end
chr19 47735918 47735929 CAGE_peak_7_at_BBC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I047598 47598129 47602310 1.8 [{'connected_gene': 'ZNF541', 'score': 15.85}, {'connected_gene': 'NAPA', 'score': 12.99}, {'connected_gene': 'NOP53', 'score': 12.11}, {'connected_gene': 'SNORD23', 'score': 10.33}, {'connected_gene': 'BBC3', 'score': 1.73}, {'connected_gene': 'BICRA', 'score': 1.7}, {'connected_gene': 'INAFM1', 'score': 1.27}, {'connected_gene': 'GC19P047605', 'score': 0.77}, {'connected_gene': 'GC19P047592', 'score': 0.44}]
chr19 GH19I047309 47309001 47316475 2.14 [{'connected_gene': 'C5AR1', 'score': 590.14}, {'connected_gene': 'DHX34', 'score': 65.45}, {'connected_gene': 'ZC3H4', 'score': 32.75}, {'connected_gene': 'C5AR2', 'score': 31.91}, {'connected_gene': 'NAPA', 'score': 17.67}, {'connected_gene': 'CCDC9', 'score': 15.23}, {'connected_gene': 'PPP5C', 'score': 10.14}, {'connected_gene': 'BBC3', 'score': 1.5}]
chr19 GH19I047154 47154596 47160209 1.11 [{'connected_gene': 'BBC3', 'score': 18.75}, {'connected_gene': 'CCDC9', 'score': 12.65}, {'connected_gene': 'SAE1', 'score': 12.14}, {'connected_gene': 'TMEM160', 'score': 11.17}, {'connected_gene': 'ZC3H4', 'score': 0.26}, {'connected_gene': 'MIR3190', 'score': 0.2}]
chr19 GH19I047161 47161024 47163331 0.49 [{'connected_gene': 'BBC3', 'score': 12.69}, {'connected_gene': 'CCDC9', 'score': 12.65}, {'connected_gene': 'SAE1', 'score': 12.13}, {'connected_gene': 'ZC3H4', 'score': 0.25}, {'connected_gene': 'MIR3190', 'score': 0.21}]
chr19 GH19I047151 47151730 47153723 0.93 [{'connected_gene': 'BBC3', 'score': 12.66}, {'connected_gene': 'CCDC9', 'score': 12.63}, {'connected_gene': 'SAE1', 'score': 11.97}, {'connected_gene': 'ZC3H4', 'score': 0.28}, {'connected_gene': 'MIR3190', 'score': 0.19}]
chr19 GH19I047225 47225267 47233495 2.37 [{'connected_gene': 'BBC3', 'score': 550.77}, {'connected_gene': 'ZC3H4', 'score': 286.1}, {'connected_gene': 'BICRA', 'score': 161.17}, {'connected_gene': 'ENSG00000268810', 'score': 144.14}, {'connected_gene': 'NOP53-AS1', 'score': 116.07}, {'connected_gene': 'CCDC9', 'score': 84.67}, {'connected_gene': 'NOP53', 'score': 66.53}, {'connected_gene': 'SNORD23', 'score': 37.42}, {'connected_gene': 'PPP5D1', 'score': 33.65}, {'connected_gene': 'ENSG00000269124', 'score': 29.52}, {'connected_gene': 'PRKD2', 'score': 27.11}, {'connected_gene': 'PNMA8A', 'score': 24.57}, {'connected_gene': 'SLC1A5', 'score': 22.8}, {'connected_gene': 'ENSG00000268746', 'score': 20.33}, {'connected_gene': 'INAFM1', 'score': 20.32}, {'connected_gene': 'LIG1', 'score': 19.63}, {'connected_gene': 'ZSWIM9', 'score': 12.69}, {'connected_gene': 'STRN4', 'score': 11.81}, {'connected_gene': 'EHD2', 'score': 10.98}, {'connected_gene': 'MEIS3', 'score': 10.91}, {'connected_gene': 'PNMA8B', 'score': 10.81}, {'connected_gene': 'SLC8A2', 'score': 10.67}, {'connected_gene': 'PPP5C', 'score': 9.99}, {'connected_gene': 'MIR3191', 'score': 0.77}, {'connected_gene': 'MIR3190', 'score': 0.77}]
chr19 GH19I047192 47192646 47193528 0.2 [{'connected_gene': 'CCDC9', 'score': 12.79}, {'connected_gene': 'BBC3', 'score': 5.75}, {'connected_gene': 'MIR3190', 'score': 0.29}, {'connected_gene': 'ZC3H4', 'score': 0.18}, {'connected_gene': 'SAE1', 'score': 0.18}]
chr19 GH19I047250 47250567 47251302 0.78 [{'connected_gene': 'CCDC9', 'score': 5.91}, {'connected_gene': 'BBC3', 'score': 0.37}]
chr19 GH19I047252 47252563 47254426 1.09 [{'connected_gene': 'CCDC9', 'score': 16.43}, {'connected_gene': 'BBC3', 'score': 0.34}]
chr19 GH19I047247 47247744 47247893 0.8 [{'connected_gene': 'CCDC9', 'score': 0.44}, {'connected_gene': 'BBC3', 'score': 0.39}]
chr19 GH19I047248 47247400 47247673 1.32 [{'connected_gene': 'CCDC9', 'score': 0.44}, {'connected_gene': 'BBC3', 'score': 0.39}]
chr19 GH19I047239 47239001 47242118 1.67 [{'connected_gene': 'ZC3H4', 'score': 87.03}, {'connected_gene': 'BICRA', 'score': 57.68}, {'connected_gene': 'ENSG00000268810', 'score': 57.66}, {'connected_gene': 'NOP53', 'score': 35.11}, {'connected_gene': 'NOP53-AS1', 'score': 32.8}, {'connected_gene': 'CCDC9', 'score': 30.33}, {'connected_gene': 'ENSG00000268746', 'score': 23.59}, {'connected_gene': 'SLC1A5', 'score': 22.62}, {'connected_gene': 'EHD2', 'score': 21.18}, {'connected_gene': 'INAFM1', 'score': 20.37}, {'connected_gene': 'STRN4', 'score': 11.81}, {'connected_gene': 'LIG1', 'score': 11.25}, {'connected_gene': 'SLC8A2', 'score': 3.72}, {'connected_gene': 'BBC3', 'score': 0.44}]
chr19 GH19I047105 47105710 47114883 2.68 [{'connected_gene': 'ZC3H4', 'score': 618.89}, {'connected_gene': 'ENSG00000268810', 'score': 44.26}, {'connected_gene': 'BICRA', 'score': 32.41}, {'connected_gene': 'C5AR2', 'score': 32.07}, {'connected_gene': 'PRKD2', 'score': 25.22}, {'connected_gene': 'CCDC9', 'score': 25.19}, {'connected_gene': 'NOP53-AS1', 'score': 22.55}, {'connected_gene': 'SNORD23', 'score': 20.88}, {'connected_gene': 'ENSG00000268746', 'score': 20.42}, {'connected_gene': 'DHX34', 'score': 19.13}, {'connected_gene': 'EHD2', 'score': 13.25}, {'connected_gene': 'PNMA8A', 'score': 11.81}, {'connected_gene': 'TMEM160', 'score': 11.39}, {'connected_gene': 'PPP5D1', 'score': 11.12}, {'connected_gene': 'ENSG00000269124', 'score': 10.82}, {'connected_gene': 'C5AR1', 'score': 10.52}, {'connected_gene': 'INAFM1', 'score': 10.36}, {'connected_gene': 'NOP53', 'score': 10.1}, {'connected_gene': 'BBC3', 'score': 6.52}, {'connected_gene': 'NAPA', 'score': 6.5}, {'connected_gene': 'SAE1', 'score': 5.53}, {'connected_gene': 'STRN4', 'score': 1.59}, {'connected_gene': 'PTGIR', 'score': 1.47}, {'connected_gene': 'GC19P047078', 'score': 0.29}]
chr19 GH19I047242 47242545 47245036 1.86 [{'connected_gene': 'ZC3H4', 'score': 202.35}, {'connected_gene': 'BICRA', 'score': 139.38}, {'connected_gene': 'ENSG00000268810', 'score': 116.38}, {'connected_gene': 'NOP53-AS1', 'score': 89.85}, {'connected_gene': 'CCDC9', 'score': 77.82}, {'connected_gene': 'NOP53', 'score': 55.84}, {'connected_gene': 'SLC1A5', 'score': 33.86}, {'connected_gene': 'SNORD23', 'score': 25.75}, {'connected_gene': 'ENSG00000268746', 'score': 23.59}, {'connected_gene': 'EHD2', 'score': 21.81}, {'connected_gene': 'INAFM1', 'score': 20.73}, {'connected_gene': 'PRKD2', 'score': 19.31}, {'connected_gene': 'ENSG00000269124', 'score': 10.81}, {'connected_gene': 'MEIS3', 'score': 2.74}, {'connected_gene': 'BBC3', 'score': 1.86}]
chr19 GH19I047209 47209123 47211688 1.37 [{'connected_gene': 'ZC3H4', 'score': 25.85}, {'connected_gene': 'ENSG00000268810', 'score': 13.95}, {'connected_gene': 'BBC3', 'score': 13.81}, {'connected_gene': 'CCDC9', 'score': 13.72}, {'connected_gene': 'NOP53-AS1', 'score': 13.17}, {'connected_gene': 'BICRA', 'score': 13.06}, {'connected_gene': 'STRN4', 'score': 11.81}, {'connected_gene': 'SAE1', 'score': 11.69}, {'connected_gene': 'LIG1', 'score': 11.25}, {'connected_gene': 'TMEM160', 'score': 11.07}, {'connected_gene': 'PRKD2', 'score': 10.56}, {'connected_gene': 'MIR3190', 'score': 0.37}]
chr19 GH19I047244 47242344 47242493 0.69 [{'connected_gene': 'ZC3H4', 'score': 21.38}, {'connected_gene': 'ENSG00000268810', 'score': 19.43}, {'connected_gene': 'CCDC9', 'score': 13.2}, {'connected_gene': 'NOP53', 'score': 12.85}, {'connected_gene': 'SLC1A5', 'score': 12.02}, {'connected_gene': 'NOP53-AS1', 'score': 11.13}, {'connected_gene': 'MEIS3', 'score': 10.92}, {'connected_gene': 'PRKD2', 'score': 10.04}, {'connected_gene': 'BICRA', 'score': 9.89}, {'connected_gene': 'BBC3', 'score': 0.44}]
chr19 GH19I047243 47242184 47242333 0.66 [{'connected_gene': 'ZC3H4', 'score': 21.38}, {'connected_gene': 'CCDC9', 'score': 13.2}, {'connected_gene': 'NOP53', 'score': 12.85}, {'connected_gene': 'SLC1A5', 'score': 12.02}, {'connected_gene': 'NOP53-AS1', 'score': 11.13}, {'connected_gene': 'MEIS3', 'score': 10.91}, {'connected_gene': 'ENSG00000268810', 'score': 10.21}, {'connected_gene': 'PRKD2', 'score': 10.04}, {'connected_gene': 'BICRA', 'score': 9.89}, {'connected_gene': 'BBC3', 'score': 0.44}]
chr19 GH19I047185 47185677 47191737 1.59 [{'connected_gene': 'SAE1', 'score': 16.68}, {'connected_gene': 'BBC3', 'score': 14.92}, {'connected_gene': 'CCDC9', 'score': 12.79}, {'connected_gene': 'BICRA', 'score': 4.46}, {'connected_gene': 'MIR3190', 'score': 0.28}, {'connected_gene': 'ZC3H4', 'score': 0.19}]
chr19 GH19I047165 47165124 47166804 0.38 [{'connected_gene': 'SAE1', 'score': 11.82}, {'connected_gene': 'BBC3', 'score': 11.81}, {'connected_gene': 'CCDC9', 'score': 11.77}, {'connected_gene': 'ZC3H4', 'score': 0.23}, {'connected_gene': 'MIR3190', 'score': 0.21}]
chr19 GH19I047388 47388401 47390356 1 [{'connected_gene': 'GC19P047388', 'score': 550.77}, {'connected_gene': 'DHX34', 'score': 47.5}, {'connected_gene': 'C5AR1', 'score': 29.87}, {'connected_gene': 'C5AR2', 'score': 18.55}, {'connected_gene': 'ZC3H4', 'score': 16.69}, {'connected_gene': 'CCDC9', 'score': 10.13}, {'connected_gene': 'NAPA', 'score': 6.93}, {'connected_gene': 'BICRA', 'score': 2.07}, {'connected_gene': 'BBC3', 'score': 1.16}, {'connected_gene': 'MEIS3', 'score': 0.29}]
chr19 GH19I047351 47351644 47352200 1.26 [{'connected_gene': 'GC19P047354', 'score': 550.77}, {'connected_gene': 'PIR41927', 'score': 550.77}, {'connected_gene': 'C5AR2', 'score': 23.24}, {'connected_gene': 'DHX34', 'score': 20.28}, {'connected_gene': 'ZC3H4', 'score': 18.08}, {'connected_gene': 'C5AR1', 'score': 14.18}, {'connected_gene': 'ENSG00000268810', 'score': 13.95}, {'connected_gene': 'NOP53-AS1', 'score': 13.18}, {'connected_gene': 'BICRA', 'score': 13.08}, {'connected_gene': 'MEIS3', 'score': 6.33}, {'connected_gene': 'CCDC9', 'score': 5.74}, {'connected_gene': 'NAPA', 'score': 2.56}, {'connected_gene': 'BBC3', 'score': 1.3}]
chr19 GH19I047271 47271984 47276709 2.61 [{'connected_gene': 'PIR46471', 'score': 550.77}, {'connected_gene': 'INAFM1', 'score': 550.77}, {'connected_gene': 'CCDC9', 'score': 32.48}, {'connected_gene': 'BICRA', 'score': 17.28}, {'connected_gene': 'ZC3H4', 'score': 15.24}, {'connected_gene': 'ENSG00000268810', 'score': 10.94}, {'connected_gene': 'C5AR2', 'score': 6.97}, {'connected_gene': 'DHX34', 'score': 5.28}, {'connected_gene': 'C5AR1', 'score': 4.38}, {'connected_gene': 'HIF3A', 'score': 4.31}, {'connected_gene': 'BBC3', 'score': 4.21}, {'connected_gene': 'NOP53', 'score': 3.54}, {'connected_gene': 'NAPA', 'score': 1.63}]

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