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
ENST00000596924 [[58856543, 58858395], [58858718, 58859000]] None
ENST00000263100 [[58858215, 58858395], [58858718, 58859006], [58861735, 58862017], [58862756, 58863053], [58863648, 58863921], [58864293, 58864563], [58864657, 58864693], [58864769, 58864865]] [[58858387, 58858395], [58858718, 58859006], [58861735, 58862017], [58862756, 58863053], [58863648, 58863921], [58864293, 58864563], [58864657, 58864693], [58864769, 58864803]]
ENST00000595014 [[58858223, 58858395], [58858718, 58859006], [58861735, 58862017], [58862756, 58863921], [58864293, 58864563], [58864657, 58864693], [58864769, 58864857]] None
ENST00000598345 [[58858225, 58858395], [58858718, 58859023]] None
ENST00000600966 [[58861959, 58862017], [58862756, 58863053], [58863463, 58863550], [58863648, 58863921], [58864293, 58864495]] [[58861959, 58862017], [58862756, 58863053], [58863463, 58863550], [58863648, 58863921], [58864293, 58864495]]
NM_130786 [[58858171, 58858395], [58858718, 58859006], [58861735, 58862017], [58862756, 58863053], [58863648, 58863921], [58864293, 58864563], [58864657, 58864693], [58864769, 58864865]] [[58858387, 58858395], [58858718, 58859006], [58861735, 58862017], [58862756, 58863053], [58863648, 58863921], [58864293, 58864563], [58864657, 58864693], [58864769, 58864803]]
Promoter
Chrom Start End Description
chr19 58858886 58858925 CAGE_peak_4_at_A1BG_5end
chr19 58858938 58859039 CAGE_peak_1_at_A1BG_5end
chr19 58864822 58864847 CAGE_peak_2_at_A1BG_5end
chr19 58864848 58864868 CAGE_peak_3_at_A1BG_5end
chr19 58874112 58874125 CAGE_peak_1_at_ZNF497_5end,CAGE_peak_5_at_A1BG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I058346 58346749 58348401 1.42 [{'connected_gene': 'A1BG-AS1', 'score': 550.77}, {'connected_gene': 'A1BG', 'score': 18.13}, {'connected_gene': 'TRIM28', 'score': 16.23}, {'connected_gene': 'ZNF548', 'score': 13.67}, {'connected_gene': 'RPS5', 'score': 13.04}, {'connected_gene': 'ZNF274', 'score': 12.44}, {'connected_gene': 'ZNF134', 'score': 11.93}, {'connected_gene': 'ZNF417', 'score': 11.5}, {'connected_gene': 'ZNF446', 'score': 11.22}, {'connected_gene': 'ZNF324', 'score': 11.21}, {'connected_gene': 'RNU6-1337P', 'score': 11.13}, {'connected_gene': 'ZNF586', 'score': 10.84}, {'connected_gene': 'ZNF587', 'score': 10.72}, {'connected_gene': 'ZNF587B', 'score': 10.58}, {'connected_gene': 'ZNF550', 'score': 10.47}, {'connected_gene': 'ZSCAN22', 'score': 10.06}, {'connected_gene': 'PIR61497', 'score': 0.44}, {'connected_gene': 'ENSG00000268230', 'score': 0.37}]
chr19 GH19I058325 58325078 58328663 2.13 [{'connected_gene': 'ZSCAN22', 'score': 590.5}, {'connected_gene': 'LOC105372480', 'score': 550.77}, {'connected_gene': 'PIR44424', 'score': 550.77}, {'connected_gene': 'ZNF134', 'score': 95.73}, {'connected_gene': 'ZNF606', 'score': 84.03}, {'connected_gene': 'ZNF417', 'score': 78.83}, {'connected_gene': 'ZNF549', 'score': 78.0}, {'connected_gene': 'ZNF135', 'score': 75.2}, {'connected_gene': 'ZNF17', 'score': 75.05}, {'connected_gene': 'ZNF446', 'score': 72.09}, {'connected_gene': 'TRIM28', 'score': 70.16}, {'connected_gene': 'ZNF548', 'score': 65.75}, {'connected_gene': 'ZNF324B', 'score': 64.7}, {'connected_gene': 'LOC100128398', 'score': 57.08}, {'connected_gene': 'ZNF329', 'score': 55.95}, {'connected_gene': 'ZSCAN18', 'score': 53.96}, {'connected_gene': 'ZNF773', 'score': 51.65}, {'connected_gene': 'ZNF418', 'score': 50.82}, {'connected_gene': 'ZNF132', 'score': 48.41}, {'connected_gene': 'ZNF304', 'score': 48.27}, {'connected_gene': 'LOC105372482', 'score': 47.21}, {'connected_gene': 'ZNF550', 'score': 46.47}, {'connected_gene': 'ZNF256', 'score': 44.82}, {'connected_gene': 'LOC105372483', 'score': 44.44}, {'connected_gene': 'ERVK3-1', 'score': 41.13}, {'connected_gene': 'MZF1', 'score': 39.18}, {'connected_gene': 'ZNF274', 'score': 39.18}, {'connected_gene': 'ENSG00000268912', 'score': 34.77}, {'connected_gene': 'MZF1-AS1', 'score': 33.5}, {'connected_gene': 'ZNF587', 'score': 33.42}, {'connected_gene': 'ZNF551', 'score': 31.28}, {'connected_gene': 'ZNF776', 'score': 31.21}, {'connected_gene': 'ZNF544', 'score': 30.4}, {'connected_gene': 'ZNF211', 'score': 23.89}, {'connected_gene': 'ZNF586', 'score': 23.67}, {'connected_gene': 'ZNF419', 'score': 22.91}, {'connected_gene': 'ENSG00000268201', 'score': 20.96}, {'connected_gene': 'ZIK1', 'score': 20.77}, {'connected_gene': 'LOC100419848', 'score': 20.12}, {'connected_gene': 'ZNF587B', 'score': 19.27}, {'connected_gene': 'RPS5', 'score': 19.18}, {'connected_gene': 'ENSG00000268543', 'score': 15.51}, {'connected_gene': 'RN7SL526P', 'score': 13.85}, {'connected_gene': 'ENSG00000268678', 'score': 13.73}, {'connected_gene': 'A1BG', 'score': 12.23}, {'connected_gene': 'ENSG00000232098', 'score': 10.92}, {'connected_gene': 'ZNF749', 'score': 10.78}, {'connected_gene': 'ZNF324', 'score': 10.71}, {'connected_gene': 'ZNF584', 'score': 10.63}, {'connected_gene': 'ZSCAN1', 'score': 10.34}, {'connected_gene': 'ZSCAN4', 'score': 10.33}, {'connected_gene': 'ZNF547', 'score': 10.02}, {'connected_gene': 'ZBTB45', 'score': 9.75}]
chr19 GH19I058400 58400379 58402529 2.07 [{'connected_gene': 'ZNF584', 'score': 595.08}, {'connected_gene': 'LINC02560', 'score': 550.77}, {'connected_gene': 'GC19P058411', 'score': 550.77}, {'connected_gene': 'ZNF132', 'score': 35.21}, {'connected_gene': 'ZNF606', 'score': 23.07}, {'connected_gene': 'ZNF549', 'score': 18.21}, {'connected_gene': 'ENSG00000232098', 'score': 18.06}, {'connected_gene': 'MZF1', 'score': 17.62}, {'connected_gene': 'ZNF417', 'score': 17.61}, {'connected_gene': 'ZNF329', 'score': 17.24}, {'connected_gene': 'MZF1-AS1', 'score': 16.95}, {'connected_gene': 'TRIM28', 'score': 16.8}, {'connected_gene': 'ZNF446', 'score': 16.54}, {'connected_gene': 'ZNF17', 'score': 16.23}, {'connected_gene': 'ZNF418', 'score': 14.04}, {'connected_gene': 'ZNF776', 'score': 13.81}, {'connected_gene': 'ZNF135', 'score': 12.94}, {'connected_gene': 'ZNF550', 'score': 12.64}, {'connected_gene': 'ZNF134', 'score': 12.47}, {'connected_gene': 'ZNF773', 'score': 12.45}, {'connected_gene': 'LOC105372482', 'score': 11.87}, {'connected_gene': 'ZNF211', 'score': 11.6}, {'connected_gene': 'LOC105372483', 'score': 11.54}, {'connected_gene': 'ZNF324B', 'score': 11.37}, {'connected_gene': 'ZNF551', 'score': 11.17}, {'connected_gene': 'ZSCAN22', 'score': 11.17}, {'connected_gene': 'LOC100128398', 'score': 11.11}, {'connected_gene': 'ZNF544', 'score': 10.36}, {'connected_gene': 'ZNF530', 'score': 9.85}, {'connected_gene': 'ZIK1', 'score': 9.71}, {'connected_gene': 'A1BG', 'score': 6.16}, {'connected_gene': 'ZNF324', 'score': 6.08}, {'connected_gene': 'ZNF497', 'score': 5.58}, {'connected_gene': 'ZNF256', 'score': 4.44}, {'connected_gene': 'CENPBD1P1', 'score': 4.26}, {'connected_gene': 'ZNF8', 'score': 3.92}, {'connected_gene': 'ZNF837', 'score': 2.51}, {'connected_gene': 'ZSCAN1', 'score': 1.82}, {'connected_gene': 'ZSCAN18', 'score': 1.78}]
chr19 GH19I058498 58498069 58500260 1.8 [{'connected_gene': 'LOC105372485', 'score': 550.77}, {'connected_gene': 'ZNF584', 'score': 30.75}, {'connected_gene': 'ZNF324B', 'score': 28.99}, {'connected_gene': 'TRIM28', 'score': 16.39}, {'connected_gene': 'LOC105372483', 'score': 16.18}, {'connected_gene': 'ENSG00000268543', 'score': 15.53}, {'connected_gene': 'ZBTB45', 'score': 13.13}, {'connected_gene': 'ZNF132', 'score': 12.87}, {'connected_gene': 'ENSG00000268912', 'score': 12.81}, {'connected_gene': 'ZNF134', 'score': 12.19}, {'connected_gene': 'ZNF416', 'score': 12.04}, {'connected_gene': 'ZNF256', 'score': 11.74}, {'connected_gene': 'ZNF549', 'score': 10.69}, {'connected_gene': 'ZNF446', 'score': 10.6}, {'connected_gene': 'ZNF135', 'score': 9.8}, {'connected_gene': 'ZSCAN18', 'score': 9.74}, {'connected_gene': 'CENPBD1P1', 'score': 8.96}, {'connected_gene': 'A1BG', 'score': 7.53}, {'connected_gene': 'GC19M058505', 'score': 0.44}, {'connected_gene': 'SLC27A5', 'score': 0.39}]
chr19 GH19I058361 58361346 58363463 2.1 [{'connected_gene': 'LOC105372483', 'score': 571.44}, {'connected_gene': 'RNA5SP473', 'score': 550.77}, {'connected_gene': 'ZNF497', 'score': 550.77}, {'connected_gene': 'ENSG00000268230', 'score': 550.77}, {'connected_gene': 'ZNF548', 'score': 35.19}, {'connected_gene': 'ZNF417', 'score': 33.44}, {'connected_gene': 'ZNF134', 'score': 33.33}, {'connected_gene': 'TRIM28', 'score': 33.13}, {'connected_gene': 'ZSCAN22', 'score': 29.89}, {'connected_gene': 'ZNF274', 'score': 24.61}, {'connected_gene': 'ZNF550', 'score': 23.49}, {'connected_gene': 'ZNF606', 'score': 23.4}, {'connected_gene': 'MZF1-AS1', 'score': 21.63}, {'connected_gene': 'ENSG00000268912', 'score': 21.08}, {'connected_gene': 'ZNF324B', 'score': 21.07}, {'connected_gene': 'ZNF587B', 'score': 20.86}, {'connected_gene': 'ZNF773', 'score': 19.2}, {'connected_gene': 'ZNF587', 'score': 19.05}, {'connected_gene': 'ZNF132', 'score': 15.73}, {'connected_gene': 'LOC100128398', 'score': 14.52}, {'connected_gene': 'ZNF419', 'score': 13.89}, {'connected_gene': 'ZNF135', 'score': 13.41}, {'connected_gene': 'RPS5', 'score': 13.1}, {'connected_gene': 'ZNF549', 'score': 12.05}, {'connected_gene': 'ERVK3-1', 'score': 11.87}, {'connected_gene': 'ZNF17', 'score': 11.58}, {'connected_gene': 'ZSCAN18', 'score': 11.44}, {'connected_gene': 'ZNF329', 'score': 11.31}, {'connected_gene': 'LOC100419848', 'score': 11.24}, {'connected_gene': 'ZNF749', 'score': 11.2}, {'connected_gene': 'ZNF418', 'score': 11.16}, {'connected_gene': 'ZNF256', 'score': 10.85}, {'connected_gene': 'ZNF586', 'score': 10.84}, {'connected_gene': 'LOC105372482', 'score': 10.7}, {'connected_gene': 'ZNF547', 'score': 10.02}, {'connected_gene': 'ZNF776', 'score': 9.91}, {'connected_gene': 'MZF1', 'score': 9.86}, {'connected_gene': 'ZNF446', 'score': 9.77}, {'connected_gene': 'A1BG', 'score': 9.23}, {'connected_gene': 'ENSG00000232098', 'score': 4.23}]
chr19 GH19I058353 58353453 58353512 1.08 [{'connected_gene': 'A1BG', 'score': 562.79}, {'connected_gene': 'ENSG00000279611', 'score': 0.77}, {'connected_gene': 'A1BG-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000268230', 'score': 0.44}]
chr19 GH19I058330 58330336 58331198 0.82 [{'connected_gene': 'A1BG', 'score': 13.48}, {'connected_gene': 'MIR6806', 'score': 0.77}, {'connected_gene': 'ZSCAN22', 'score': 0.77}, {'connected_gene': 'LOC105372480', 'score': 0.77}]
chr19 GH19I058355 58355787 58358617 0.58 [{'connected_gene': 'ENSG00000268049', 'score': 550.77}, {'connected_gene': 'ZNF132', 'score': 11.65}, {'connected_gene': 'RPS5', 'score': 11.52}, {'connected_gene': 'LOC100419840', 'score': 0.77}, {'connected_gene': 'A1BG', 'score': 0.77}, {'connected_gene': 'ZNF497', 'score': 0.44}, {'connected_gene': 'ENSG00000268230', 'score': 0.44}]
chr19 GH19I058313 58313312 58313591 0.24 [{'connected_gene': 'GC19P058313', 'score': 550.77}, {'connected_gene': 'PIR41037', 'score': 550.77}, {'connected_gene': 'ZNF8', 'score': 11.88}, {'connected_gene': 'ZNF446', 'score': 10.65}, {'connected_gene': 'RNU6-1337P', 'score': 10.65}, {'connected_gene': 'ZBTB45', 'score': 10.48}, {'connected_gene': 'A1BG', 'score': 10.25}, {'connected_gene': 'ZNF256', 'score': 1.45}, {'connected_gene': 'ERVK3-1', 'score': 0.44}, {'connected_gene': 'LOC100887072', 'score': 0.44}, {'connected_gene': 'LOC105372480', 'score': 0.39}, {'connected_gene': 'ENSG00000267216', 'score': 0.29}, {'connected_gene': 'ENSG00000283515', 'score': 0.18}]