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
ENST00000371795 [[91174342, 91174560], [91176961, 91180758]] [[91174555, 91174560], [91176961, 91178405]]
ENST00000416601 [[91174518, 91174560], [91176961, 91177430], [91177574, 91178576]] [[91174555, 91174560], [91176961, 91177430], [91177574, 91178405]]
NM_012420 [[91174324, 91174560], [91176961, 91180759]] [[91174555, 91174560], [91176961, 91178405]]
Promoter
Chrom Start End Description
chr10 91174204 91174207 CAGE_peak_7_at_IFIT5_5end
chr10 91174314 91174403 CAGE_peak_2_at_IFIT5_5end
chr10 91174418 91174436 CAGE_peak_4_at_IFIT5_5end
chr10 91174469 91174485 CAGE_peak_3_at_IFIT5_5end
chr10 91174486 91174528 CAGE_peak_1_at_IFIT5_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 GH10I089429 89429406 89429448 0.36 [{'connected_gene': 'SLC16A12', 'score': 2.02}, {'connected_gene': 'IFIT5', 'score': 0.39}, {'connected_gene': 'SLC16A12-AS1', 'score': 0.31}]
chr10 GH10I089490 89490202 89491368 0.31 [{'connected_gene': 'SLC16A12', 'score': 6.26}, {'connected_gene': 'LIPA', 'score': 5.1}, {'connected_gene': 'IFIT5', 'score': 4.72}, {'connected_gene': 'GC10P089485', 'score': 0.44}]
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 GH10I089391 89391667 89394426 1.84 [{'connected_gene': 'IFIT1', 'score': 550.77}, {'connected_gene': 'IFIT5', 'score': 34.61}, {'connected_gene': 'ENSG00000232110', 'score': 10.35}, {'connected_gene': 'SLC16A12-AS1', 'score': 9.46}, {'connected_gene': 'GC10P089413', 'score': 0.34}, {'connected_gene': 'LIPA', 'score': 0.34}]
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 GH10I089300 89300110 89304783 2 [{'connected_gene': 'IFIT2', 'score': 550.37}, {'connected_gene': 'IFIT1B', 'score': 10.92}, {'connected_gene': 'IFIT5', 'score': 6.73}, {'connected_gene': 'LOC105378419', 'score': 0.39}, {'connected_gene': 'ENSG00000232110', 'score': 0.37}, {'connected_gene': 'GC10M089235', 'score': 0.18}, {'connected_gene': 'LIPA', 'score': 0.14}]
chr10 GH10I089474 89474914 89477201 0.92 [{'connected_gene': 'IFIT5', 'score': 4.75}, {'connected_gene': 'LIPN', 'score': 4.42}, {'connected_gene': 'GC10P089485', 'score': 0.44}, {'connected_gene': 'SLC16A12-AS1', 'score': 0.34}, {'connected_gene': 'SLC16A12', '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 GH10I089309 89309695 89311082 0.38 [{'connected_gene': 'IFIT5', 'score': 37.59}, {'connected_gene': 'ENSG00000232110', 'score': 11.47}, {'connected_gene': 'IFIT1B', 'score': 11.05}, {'connected_gene': 'LIPA', 'score': 10.45}, {'connected_gene': 'LOC105378419', 'score': 0.77}, {'connected_gene': 'GC10M089235', 'score': 0.19}]
chr10 GH10I089373 89373273 89375707 1.36 [{'connected_gene': 'IFIT5', 'score': 22.46}, {'connected_gene': 'IFIT1B', 'score': 0.77}, {'connected_gene': 'GC10M089235', 'score': 0.44}, {'connected_gene': 'IFIT6P', 'score': 0.39}, {'connected_gene': 'LIPA', 'score': 0.26}]
chr10 GH10I089372 89372325 89372751 0.43 [{'connected_gene': 'IFIT5', 'score': 10.01}, {'connected_gene': 'IFIT1B', 'score': 0.44}, {'connected_gene': 'GC10M089235', 'score': 0.44}, {'connected_gene': 'IFIT6P', 'score': 0.39}, {'connected_gene': 'LIPA', 'score': 0.26}]
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 GH10I089413 89413373 89416284 1.91 [{'connected_gene': 'IFIT5', 'score': 585.71}, {'connected_gene': 'GC10P089413', 'score': 550.77}, {'connected_gene': 'LIPA', 'score': 550.77}, {'connected_gene': 'KIF20B', 'score': 14.08}, {'connected_gene': 'IFIT1B', 'score': 11.05}, {'connected_gene': 'SLC16A12-AS1', 'score': 0.26}]
chr10 GH10I089466 89466601 89467121 0.88 [{'connected_gene': 'IFIT5', 'score': 14.73}, {'connected_gene': 'LIPA', 'score': 10.33}, {'connected_gene': 'ENSG00000235100', 'score': 9.33}, {'connected_gene': 'KIF20B', 'score': 9.33}, {'connected_gene': 'MIR107', 'score': 9.28}, {'connected_gene': 'SLC16A12-AS1', 'score': 0.39}, {'connected_gene': 'GC10P089485', 'score': 0.37}, {'connected_gene': 'SLC16A12', 'score': 0.17}]
chr10 GH10I089463 89463770 89464593 0.2 [{'connected_gene': 'IFIT5', 'score': 10.35}, {'connected_gene': 'LIPA', 'score': 10.35}, {'connected_gene': 'ENSG00000235100', 'score': 9.33}, {'connected_gene': 'KIF20B', 'score': 9.33}, {'connected_gene': 'SLC16A12', 'score': 5.75}, {'connected_gene': 'STAMBPL1', 'score': 4.45}, {'connected_gene': 'SLC16A12-AS1', 'score': 0.44}, {'connected_gene': 'GC10P089485', 'score': 0.34}]
chr10 GH10I089416 89416601 89416800 0.31 [{'connected_gene': 'IFIT5', 'score': 0.77}, {'connected_gene': 'SLC16A12-AS1', 'score': 0.28}]
chr10 GH10I089426 89426384 89426533 0.57 [{'connected_gene': 'IFIT5', 'score': 0.39}, {'connected_gene': 'SLC16A12-AS1', 'score': 0.31}]
chr10 GH10I089427 89426572 89428544 0.56 [{'connected_gene': 'IFIT5', 'score': 40.81}, {'connected_gene': 'SLC16A12-AS1', 'score': 0.31}]
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 GH10I089477 89477897 89483197 0.94 [{'connected_gene': 'SLC16A12-AS1', 'score': 11.26}, {'connected_gene': 'SLC16A12', 'score': 5.9}, {'connected_gene': 'IFIT5', 'score': 5.04}, {'connected_gene': 'LIPA', 'score': 4.58}, {'connected_gene': 'GC10P089485', 'score': 0.44}]
chr10 GH10I089514 89514178 89520368 1.35 [{'connected_gene': 'SLC16A12-AS1', 'score': 10.65}, {'connected_gene': 'IFIT5', 'score': 6.85}, {'connected_gene': 'SLC16A12', 'score': 6.55}, {'connected_gene': 'GC10P089485', 'score': 0.29}]
chr10 GH10I089503 89503372 89504734 0.2 [{'connected_gene': 'SLC16A12-AS1', 'score': 10.47}, {'connected_gene': 'IFIT5', 'score': 4.32}, {'connected_gene': 'GC10P089485', 'score': 0.37}, {'connected_gene': 'SLC16A12', 'score': 0.23}]
chr10 GH10I089419 89419684 89419813 0.57 [{'connected_gene': 'SLC16A12-AS1', 'score': 10.22}, {'connected_gene': 'IFIT5', 'score': 6.73}]
chr10 GH10I089342 89342212 89344127 0.96 [{'connected_gene': 'LOC101926887', 'score': 550.77}, {'connected_gene': 'IFIT5', 'score': 18.25}, {'connected_gene': 'IFIT1B', 'score': 11.9}, {'connected_gene': 'IFIT2', 'score': 11.78}, {'connected_gene': 'ENSG00000232110', 'score': 11.25}, {'connected_gene': 'IFIT6P', 'score': 0.37}, {'connected_gene': 'GC10M089235', 'score': 0.28}, {'connected_gene': 'LIPA', 'score': 0.19}]
chr10 GH10I089217 89217001 89218413 1.07 [{'connected_gene': 'ACTA2-AS1', 'score': 11.86}, {'connected_gene': 'FAS', 'score': 10.57}, {'connected_gene': 'IFIT5', 'score': 4.47}, {'connected_gene': 'GC10P089210', 'score': 0.44}, {'connected_gene': 'IFIT2', 'score': 0.2}, {'connected_gene': 'LIPA', 'score': 0.08}]
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 GH10I089305 89305588 89306629 0.31 [{'connected_gene': 'ENSG00000232110', 'score': 12.04}, {'connected_gene': 'IFIT1B', 'score': 11.23}, {'connected_gene': 'IFIT5', 'score': 8.17}, {'connected_gene': 'LOC105378419', 'score': 0.44}, {'connected_gene': 'IFIT2', 'score': 0.34}, {'connected_gene': 'GC10M089235', 'score': 0.18}, {'connected_gene': 'LIPA', 'score': 0.14}]

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