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
ENST00000357847 [[143382012, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143660775, 143661441]] [[143382062, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143660775, 143660813]]
ENST00000344492 [[143382022, 143382203], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143660775, 143661441]] [[143382062, 143382203], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143660775, 143660813]]
ENST00000275235 [[143382037, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143655214, 143655232], [143656187, 143656667]] [[143382062, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143655214, 143655232], [143656187, 143656228]]
ENST00000367601 [[143381632, 143381790], [143382083, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654493]] [[143381781, 143381790], [143382083, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654493]]
ENST00000367598 [[143381978, 143382203], [143457971, 143458127], [143486218, 143486320], [143508524, 143509661]] [[143382062, 143382203], [143457971, 143458127], [143486218, 143486320], [143508524, 143508530]]
ENST00000447498 [[143381989, 143382203], [143486218, 143486320], [143605246, 143605362], [143654418, 143654430]] [[143382062, 143382203], [143486218, 143486320], [143605246, 143605362], [143654418, 143654430]]
ENST00000494282 [[143382037, 143382203], [143457971, 143458127], [143486218, 143486320], [143508765, 143511734]] [[143382062, 143382203], [143457971, 143458127], [143486218, 143486320], [143508765, 143508780]]
ENST00000458219 [[143447386, 143447441], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582]] [[143458094, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582]]
ENST00000367596 [[143382037, 143382203], [143382350, 143382743]] [[143382062, 143382203], [143382350, 143382353]]
ENST00000470265 [[143486080, 143486320], [143507806, 143507952], [143508765, 143508951]] None
NM_001286587 [[143380499, 143380547], [143382083, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143660775, 143661480]] [[143382092, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143660775, 143660813]]
NM_016108 [[143381978, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143660775, 143661480]] [[143382062, 143382203], [143457971, 143458127], [143486218, 143486320], [143605246, 143605362], [143654418, 143654582], [143660775, 143660813]]
NM_001286589 [[143381978, 143382203], [143457971, 143458127], [143486218, 143486320], [143508765, 143511739]] [[143382062, 143382203], [143457971, 143458127], [143486218, 143486320], [143508765, 143508780]]
NM_001286588 [[143381978, 143382203], [143457971, 143458127], [143486218, 143486320], [143508524, 143511739]] [[143382062, 143382203], [143457971, 143458127], [143486218, 143486320], [143508524, 143508530]]
Promoter
Chrom Start End Description
chr6 143381594 143381651 CAGE_peak_3_at_AIG1_5end
chr6 143381796 143381858 CAGE_peak_2_at_AIG1_5end
chr6 143381864 143381874 CAGE_peak_6_at_AIG1_5end
chr6 143382002 143382064 CAGE_peak_1_at_AIG1_5end
chr6 143447228 143447237 CAGE_peak_16_at_AIG1_5end
chr6 143447268 143447286 CAGE_peak_4_at_AIG1_5end
chr6 143447290 143447299 CAGE_peak_17_at_AIG1_5end
chr6 143447300 143447316 CAGE_peak_8_at_AIG1_5end
chr6 143447322 143447336 CAGE_peak_11_at_AIG1_5end
chr6 143485913 143485931 CAGE_peak_5_at_AIG1_5end
chr6 143485971 143485982 CAGE_peak_13_at_AIG1_5end
chr6 143485995 143486013 CAGE_peak_7_at_AIG1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I143196 143196864 143197013 0.46 [{'connected_gene': 'PHACTR2', 'score': 8.95}, {'connected_gene': 'ENSG00000225752', 'score': 0.15}, {'connected_gene': 'ENSG00000217495', 'score': 0.15}, {'connected_gene': 'AIG1', 'score': 0.12}]
chr6 GH06I143199 143199444 143199593 0.2 [{'connected_gene': 'PHACTR2', 'score': 8.95}, {'connected_gene': 'ENSG00000225752', 'score': 0.15}, {'connected_gene': 'ENSG00000217495', 'score': 0.15}, {'connected_gene': 'AIG1', 'score': 0.11}]
chr6 GH06I143200 143199846 143200359 0.79 [{'connected_gene': 'PHACTR2', 'score': 8.95}, {'connected_gene': 'LOC100131471', 'score': 5.22}, {'connected_gene': 'ENSG00000217495', 'score': 0.15}, {'connected_gene': 'ENSG00000225752', 'score': 0.15}, {'connected_gene': 'AIG1', 'score': 0.11}]
chr6 GH06I143288 143288037 143289537 0.2 [{'connected_gene': 'PEX3', 'score': 4.58}, {'connected_gene': 'ENSG00000217495', 'score': 0.39}, {'connected_gene': 'ENSG00000225752', 'score': 0.09}, {'connected_gene': 'AIG1', 'score': 0.07}]
chr6 GH06I143176 143176027 143177473 0.79 [{'connected_gene': 'LTV1', 'score': 13.41}, {'connected_gene': 'ADAT2', 'score': 12.02}, {'connected_gene': 'ENSG00000270890', 'score': 9.92}, {'connected_gene': 'AIG1', 'score': 9.83}, {'connected_gene': 'PHACTR2', 'score': 8.76}, {'connected_gene': 'LOC100131471', 'score': 4.44}, {'connected_gene': 'ENSG00000225752', 'score': 0.18}, {'connected_gene': 'ENSG00000217495', 'score': 0.13}]
chr6 GH06I143531 143531625 143533319 0.66 [{'connected_gene': 'LTV1', 'score': 14.41}, {'connected_gene': 'VDAC1P8', 'score': 12.03}, {'connected_gene': 'PLAGL1', 'score': 11.96}, {'connected_gene': 'PHACTR2', 'score': 10.69}, {'connected_gene': 'AIG1', 'score': 4.46}, {'connected_gene': 'LOC105378035', 'score': 0.37}, {'connected_gene': 'GC06M143473', 'score': 0.09}]
chr6 GH06I143195 143195261 143196113 0.52 [{'connected_gene': 'PLAGL1', 'score': 11.73}, {'connected_gene': 'LTV1', 'score': 11.34}, {'connected_gene': 'PHACTR2', 'score': 8.95}, {'connected_gene': 'ENSG00000225752', 'score': 0.15}, {'connected_gene': 'ENSG00000217495', 'score': 0.15}, {'connected_gene': 'AIG1', 'score': 0.12}]
chr6 GH06I143058 143058822 143065783 2.53 [{'connected_gene': 'AIG1', 'score': 561.3}, {'connected_gene': 'VDAC1P8', 'score': 26.43}, {'connected_gene': 'LTV1', 'score': 23.08}, {'connected_gene': 'ADAT2', 'score': 22.96}, {'connected_gene': 'ENSG00000270890', 'score': 18.12}, {'connected_gene': 'HIVEP2', 'score': 10.46}, {'connected_gene': 'ENSG00000232618', 'score': 10.45}, {'connected_gene': 'ENSG00000227192', 'score': 5.6}, {'connected_gene': 'ENSG00000225752', 'score': 0.28}]
chr6 GH06I143115 143115430 143116590 0.2 [{'connected_gene': 'AIG1', 'score': 7.5}, {'connected_gene': 'ENSG00000225752', 'score': 0.37}, {'connected_gene': 'ENSG00000217495', 'score': 0.09}]
chr6 GH06I143222 143222069 143227000 0.99 [{'connected_gene': 'AIG1', 'score': 10.49}, {'connected_gene': 'ENSG00000217495', 'score': 0.18}, {'connected_gene': 'ENSG00000225752', 'score': 0.13}]
chr6 GH06I143150 143150365 143150503 0.23 [{'connected_gene': 'AIG1', 'score': 4.1}, {'connected_gene': 'ENSG00000225752', 'score': 0.23}, {'connected_gene': 'ENSG00000217495', 'score': 0.11}]
chr6 GH06I143106 143106385 143108711 0.82 [{'connected_gene': 'AIG1', 'score': 10.75}, {'connected_gene': 'ENSG00000225752', 'score': 0.44}, {'connected_gene': 'ENSG00000217495', 'score': 0.08}]
chr6 GH06I142940 142940318 142948640 2.49 [{'connected_gene': 'HIVEP2', 'score': 550.39}, {'connected_gene': 'ADAT2', 'score': 23.95}, {'connected_gene': 'VDAC1P8', 'score': 14.02}, {'connected_gene': 'LTV1', 'score': 12.6}, {'connected_gene': 'TUBB8P2', 'score': 12.15}, {'connected_gene': 'ENSG00000270890', 'score': 11.95}, {'connected_gene': 'ENSG00000233138', 'score': 11.33}, {'connected_gene': 'AIG1', 'score': 10.19}, {'connected_gene': 'FUCA2', 'score': 4.72}, {'connected_gene': 'ENSG00000232618', 'score': 0.44}, {'connected_gene': 'LOC105369170', 'score': 0.37}]
chr6 GH06I143164 143164235 143168095 0.95 [{'connected_gene': 'ADAT2', 'score': 10.38}, {'connected_gene': 'LOC100131471', 'score': 4.41}, {'connected_gene': 'ENSG00000225752', 'score': 0.2}, {'connected_gene': 'AIG1', 'score': 0.14}, {'connected_gene': 'ENSG00000217495', 'score': 0.12}]
chr6 GH06I143322 143322524 143322553 0.2 [{'connected_gene': 'RPL31P27', 'score': 0.77}, {'connected_gene': 'ENSG00000217495', 'score': 0.34}, {'connected_gene': 'AIG1', 'score': 0.07}]
chr6 GH06I143324 143324411 143331505 0.9 [{'connected_gene': 'RPL31P27', 'score': 550.77}, {'connected_gene': 'GC06P143328', 'score': 550.77}, {'connected_gene': 'LOC100131471', 'score': 0.39}, {'connected_gene': 'AIG1', 'score': 0.06}]
chr6 GH06I143284 143284324 143284593 0.2 [{'connected_gene': 'ENSG00000217495', 'score': 0.37}, {'connected_gene': 'ENSG00000225752', 'score': 0.09}, {'connected_gene': 'AIG1', 'score': 0.07}]
chr6 GH06I143240 143240792 143241767 0.2 [{'connected_gene': 'ENSG00000217495', 'score': 0.22}, {'connected_gene': 'ENSG00000225752', 'score': 0.11}, {'connected_gene': 'AIG1', 'score': 0.09}]
chr6 GH06I143157 143157916 143159194 0.91 [{'connected_gene': 'ENSG00000225752', 'score': 0.22}, {'connected_gene': 'AIG1', 'score': 0.15}, {'connected_gene': 'ENSG00000217495', 'score': 0.11}]
chr6 GH06I143236 143236203 143236508 0.46 [{'connected_gene': 'ENSG00000217495', 'score': 0.21}, {'connected_gene': 'ENSG00000225752', 'score': 0.12}, {'connected_gene': 'AIG1', 'score': 0.1}]
chr6 GH06I143155 143155683 143155873 0.22 [{'connected_gene': 'ENSG00000225752', 'score': 0.22}, {'connected_gene': 'AIG1', 'score': 0.15}, {'connected_gene': 'ENSG00000217495', 'score': 0.11}]
chr6 GH06I143097 143097202 143098800 0.92 [{'connected_gene': 'ENSG00000225752', 'score': 550.77}, {'connected_gene': 'AIG1', 'score': 5.76}]
chr6 GH06I143117 143117964 143120268 0.49 [{'connected_gene': 'ENSG00000225752', 'score': 0.37}, {'connected_gene': 'AIG1', 'score': 0.22}, {'connected_gene': 'ENSG00000217495', 'score': 0.09}]
chr6 GH06I143205 143205613 143206152 0.52 [{'connected_gene': 'ENSG00000217495', 'score': 0.16}, {'connected_gene': 'ENSG00000225752', 'score': 0.14}, {'connected_gene': 'AIG1', 'score': 0.11}]
chr6 GH06I143186 143186864 143188101 0.31 [{'connected_gene': 'ENSG00000225752', 'score': 0.17}, {'connected_gene': 'ENSG00000217495', 'score': 0.14}, {'connected_gene': 'AIG1', 'score': 0.13}]
chr6 GH06I143271 143271104 143271255 0.46 [{'connected_gene': 'ENSG00000217495', 'score': 0.31}, {'connected_gene': 'ENSG00000225752', 'score': 0.09}, {'connected_gene': 'AIG1', 'score': 0.08}]
chr6 GH06I143215 143215565 143216748 0.46 [{'connected_gene': 'ENSG00000217495', 'score': 0.18}, {'connected_gene': 'ENSG00000225752', 'score': 0.13}, {'connected_gene': 'AIG1', 'score': 0.1}]
chr6 GH06I143285 143285783 143287564 0.51 [{'connected_gene': 'ENSG00000217495', 'score': 0.39}, {'connected_gene': 'ENSG00000225752', 'score': 0.09}, {'connected_gene': 'AIG1', 'score': 0.07}]
chr6 GH06I143287 143287735 143287775 0.23 [{'connected_gene': 'ENSG00000217495', 'score': 0.39}, {'connected_gene': 'ENSG00000225752', 'score': 0.09}, {'connected_gene': 'AIG1', 'score': 0.07}]
chr6 GH06I143332 143332108 143340241 0.94 [{'connected_gene': 'GC06P143328', 'score': 0.44}, {'connected_gene': 'LOC100131471', 'score': 0.44}, {'connected_gene': 'AIG1', 'score': 0.06}]

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