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
ENST00000367879 [[165796767, 165797169], [165859440, 165859600], [165860462, 165860559], [165865426, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165877346]] [[165797070, 165797169], [165859440, 165859600], [165860462, 165860559], [165865426, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165877060]]
ENST00000372212 [[165797058, 165797169], [165859440, 165859600], [165860462, 165860559], [165872418, 165872516], [165875157, 165875206], [165876920, 165877607]] [[165797070, 165797169], [165859440, 165859600], [165860462, 165860559], [165872418, 165872455]]
ENST00000462329 [[165861888, 165862011], [165865426, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165877337]] None
ENST00000464197 [[165863402, 165863816], [165865426, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165877027]] None
ENST00000469256 [[165864806, 165864878], [165865426, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165877311]] [[165865520, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165877060]]
ENST00000470820 [[165864821, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165877108]] [[165865520, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165877060]]
ENST00000463772 [[165867215, 165867241], [165872418, 165872516], [165875157, 165875206], [165876920, 165877346]] None
ENST00000479872 [[165871831, 165872516], [165875157, 165875206], [165876920, 165880855]] None
ENST00000475333 [[165873302, 165873404], [165875157, 165875206], [165876920, 165877185]] None
NM_012474 [[165796731, 165797169], [165859440, 165859600], [165860462, 165860559], [165865426, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165880855]] [[165797070, 165797169], [165859440, 165859600], [165860462, 165860559], [165865426, 165865569], [165872418, 165872516], [165875157, 165875206], [165876920, 165877060]]
Promoter
Chrom Start End Description
chr1 165796753 165796776 CAGE_peak_5_at_UCK2_5end
chr1 165796782 165796803 CAGE_peak_2_at_UCK2_5end
chr1 165796811 165796860 CAGE_peak_1_at_UCK2_5end
chr1 165796870 165796886 CAGE_peak_4_at_UCK2_5end
chr1 165797024 165797069 CAGE_peak_3_at_UCK2_5end
chr1 165864783 165864796 CAGE_peak_8_at_UCK2_5end
chr1 165864800 165864818 CAGE_peak_9_at_UCK2_5end
chr1 165864821 165864850 CAGE_peak_11_at_UCK2_5end
chr1 165871855 165871859 CAGE_peak_7_at_UCK2_5end
chr1 165873233 165873247 CAGE_peak_6_at_UCK2_5end
chr1 165877680 165877684 CAGE_peak_10_at_UCK2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I165826 165826913 165830228 2.56 [{'connected_gene': 'UCK2', 'score': 555.55}, {'connected_gene': 'TMCO1', 'score': 550.77}, {'connected_gene': 'LOC284685', 'score': 37.31}, {'connected_gene': 'ENSG00000236364', 'score': 11.27}]
chr1 GH01I165902 165902843 165904807 0.58 [{'connected_gene': 'UCK2', 'score': 17.51}, {'connected_gene': 'ENSG00000236364', 'score': 12.62}, {'connected_gene': 'TMCO1', 'score': 10.79}, {'connected_gene': 'LOC100147773', 'score': 10.72}, {'connected_gene': 'LOC105371586', 'score': 8.16}, {'connected_gene': 'MIR3658', 'score': 0.77}]
chr1 GH01I165894 165894234 165901752 1.47 [{'connected_gene': 'UCK2', 'score': 18.91}, {'connected_gene': 'ENSG00000236364', 'score': 12.92}, {'connected_gene': 'TMCO1', 'score': 10.8}, {'connected_gene': 'LOC100147773', 'score': 10.73}, {'connected_gene': 'LOC105371586', 'score': 8.23}]
chr1 GH01I165874 165874741 165876896 0.86 [{'connected_gene': 'UCK2', 'score': 11.92}, {'connected_gene': 'TMCO1', 'score': 10.81}, {'connected_gene': 'LOC100147773', 'score': 10.71}, {'connected_gene': 'LOC105371586', 'score': 5.35}, {'connected_gene': 'ENSG00000236364', 'score': 0.34}]
chr1 GH01I165884 165883520 165885837 1.12 [{'connected_gene': 'UCK2', 'score': 13.38}, {'connected_gene': 'TMCO1', 'score': 11.5}, {'connected_gene': 'LOC100147773', 'score': 11.4}, {'connected_gene': 'LOC105371586', 'score': 5.39}, {'connected_gene': 'ENSG00000236364', 'score': 0.37}]
chr1 GH01I165869 165868809 165869333 0.2 [{'connected_gene': 'UCK2', 'score': 12.46}, {'connected_gene': 'TMCO1', 'score': 12.1}, {'connected_gene': 'LOC100147773', 'score': 11.98}, {'connected_gene': 'ENSG00000236364', 'score': 11.3}]
chr1 GH01I165870 165870551 165872173 1.35 [{'connected_gene': 'UCK2', 'score': 22.58}, {'connected_gene': 'TMCO1', 'score': 11.46}, {'connected_gene': 'LOC100147773', 'score': 11.35}, {'connected_gene': 'ENSG00000236364', 'score': 11.31}]
chr1 GH01I165863 165862044 165862193 0.69 [{'connected_gene': 'UCK2', 'score': 0.29}, {'connected_gene': 'TMCO1', 'score': 0.29}, {'connected_gene': 'ENSG00000236364', 'score': 0.28}]
chr1 GH01I165850 165850959 165851632 1.1 [{'connected_gene': 'UCK2', 'score': 0.34}, {'connected_gene': 'TMCO1', 'score': 0.34}, {'connected_gene': 'ENSG00000236364', 'score': 0.25}]
chr1 GH01I165862 165862401 165862800 0.58 [{'connected_gene': 'UCK2', 'score': 11.12}, {'connected_gene': 'TMCO1', 'score': 0.29}, {'connected_gene': 'ENSG00000236364', 'score': 0.28}]
chr1 GH01I165830 165830603 165831795 0.57 [{'connected_gene': 'UCK2', 'score': 0.77}, {'connected_gene': 'TMCO1', 'score': 0.77}, {'connected_gene': 'ENSG00000236364', 'score': 0.2}]
chr1 GH01I165840 165840401 165840600 0.63 [{'connected_gene': 'UCK2', 'score': 0.39}, {'connected_gene': 'TMCO1', 'score': 0.39}, {'connected_gene': 'ENSG00000236364', 'score': 0.21}]
chr1 GH01I165833 165833001 165833400 0.85 [{'connected_gene': 'UCK2', 'score': 0.44}, {'connected_gene': 'TMCO1', 'score': 0.44}, {'connected_gene': 'ENSG00000236364', 'score': 0.2}]
chr1 GH01I165849 165849601 165850000 0.58 [{'connected_gene': 'UCK2', 'score': 0.34}, {'connected_gene': 'TMCO1', 'score': 0.34}, {'connected_gene': 'ENSG00000236364', 'score': 0.23}]
chr1 GH01I165846 165846484 165846633 0.93 [{'connected_gene': 'UCK2', 'score': 0.37}, {'connected_gene': 'TMCO1', 'score': 0.37}, {'connected_gene': 'ENSG00000236364', 'score': 0.23}]
chr1 GH01I165847 165847765 165848374 0.49 [{'connected_gene': 'UCK2', 'score': 0.34}, {'connected_gene': 'TMCO1', 'score': 0.34}, {'connected_gene': 'ENSG00000236364', 'score': 0.23}]
chr1 GH01I165888 165888988 165889761 0.2 [{'connected_gene': 'UCK2', 'score': 12.82}, {'connected_gene': 'LOC105371586', 'score': 5.61}, {'connected_gene': 'ENSG00000236364', 'score': 0.39}, {'connected_gene': 'TMCO1', 'score': 0.21}]
chr1 GH01I165890 165890438 165893252 0.63 [{'connected_gene': 'UCK2', 'score': 14.04}, {'connected_gene': 'LOC105371586', 'score': 7.03}, {'connected_gene': 'ENSG00000236364', 'score': 0.44}, {'connected_gene': 'TMCO1', 'score': 0.21}]
chr1 GH01I165879 165879513 165882728 0.52 [{'connected_gene': 'UCK2', 'score': 12.18}, {'connected_gene': 'LOC105371586', 'score': 6.1}, {'connected_gene': 'ENSG00000236364', 'score': 0.37}, {'connected_gene': 'TMCO1', 'score': 0.23}]
chr1 GH01I165914 165914001 165914600 1.2 [{'connected_gene': 'UCK2', 'score': 16.91}, {'connected_gene': 'ENSG00000236364', 'score': 10.77}, {'connected_gene': 'PIR60084', 'score': 0.77}, {'connected_gene': 'LOC100420658', 'score': 0.31}]
chr1 GH01I165864 165864870 165867482 0.49 [{'connected_gene': 'TMCO1', 'score': 11.06}, {'connected_gene': 'UCK2', 'score': 11.0}, {'connected_gene': 'LOC100147773', 'score': 10.94}, {'connected_gene': 'LOC105371586', 'score': 5.65}, {'connected_gene': 'ENSG00000236364', 'score': 0.29}]
chr1 GH01I165841 165841377 165843773 1.35 [{'connected_gene': 'TMCO1', 'score': 0.39}, {'connected_gene': 'UCK2', 'score': 0.37}, {'connected_gene': 'ENSG00000236364', 'score': 0.22}]
chr1 GH01I165852 165852757 165860412 1.68 [{'connected_gene': 'LOC284685', 'score': 44.02}, {'connected_gene': 'UCK2', 'score': 24.96}, {'connected_gene': 'ENSG00000236364', 'score': 17.4}, {'connected_gene': 'RPS13P1', 'score': 12.12}, {'connected_gene': 'TMCO1', 'score': 11.31}, {'connected_gene': 'LOC100147773', 'score': 11.16}, {'connected_gene': 'LOC105371586', 'score': 4.66}]
chr1 GH01I165695 165695564 165699265 2.05 [{'connected_gene': 'ALDH9A1', 'score': 582.54}, {'connected_gene': 'LOC440700', 'score': 550.77}, {'connected_gene': 'LOC284685', 'score': 23.64}, {'connected_gene': 'MGST3', 'score': 11.86}, {'connected_gene': 'UCK2', 'score': 9.99}, {'connected_gene': 'GC01M165672', 'score': 0.37}]
chr1 GH01I166489 166488692 166491205 1.48 [{'connected_gene': 'LINC01675', 'score': 550.77}, {'connected_gene': 'LOC284685', 'score': 15.52}, {'connected_gene': 'UCK2', 'score': 9.9}, {'connected_gene': 'ALDH9A1', 'score': 5.36}, {'connected_gene': 'FMO7P', 'score': 0.37}]
chr1 GH01I165877 165877564 165878826 0.98 [{'connected_gene': 'ENSG00000236364', 'score': 12.15}, {'connected_gene': 'UCK2', 'score': 12.06}, {'connected_gene': 'TMCO1', 'score': 10.92}, {'connected_gene': 'LOC100147773', 'score': 10.83}, {'connected_gene': 'LOC105371586', 'score': 5.5}]
chr1 GH01I165883 165883184 165883401 0.78 [{'connected_gene': 'ENSG00000236364', 'score': 0.37}, {'connected_gene': 'UCK2', 'score': 0.22}, {'connected_gene': 'TMCO1', 'score': 0.22}]
chr1 GH01I165837 165837029 165837757 0.85 [{'connected_gene': 'ENSG00000236364', 'score': 11.08}, {'connected_gene': 'UCK2', 'score': 0.44}, {'connected_gene': 'TMCO1', 'score': 0.44}]
chr1 GH01I165889 165888144 165888766 0.54 [{'connected_gene': 'ENSG00000236364', 'score': 0.39}, {'connected_gene': 'UCK2', 'score': 0.21}, {'connected_gene': 'TMCO1', 'score': 0.21}]
chr1 GH01I165868 165868298 165868806 0.2 [{'connected_gene': 'ENSG00000236364', 'score': 0.29}, {'connected_gene': 'UCK2', 'score': 0.26}, {'connected_gene': 'TMCO1', 'score': 0.26}]
chr1 GH01I165836 165836601 165836800 1.02 [{'connected_gene': 'ENSG00000236364', 'score': 11.08}, {'connected_gene': 'UCK2', 'score': 0.44}, {'connected_gene': 'TMCO1', 'score': 0.44}]
chr1 GH01I165886 165886201 165886685 0.78 [{'connected_gene': 'ENSG00000236364', 'score': 0.39}, {'connected_gene': 'UCK2', 'score': 0.22}, {'connected_gene': 'TMCO1', 'score': 0.22}]
chr1 GH01I165834 165834211 165835498 0.46 [{'connected_gene': 'ENSG00000236364', 'score': 10.71}, {'connected_gene': 'UCK2', 'score': 0.44}, {'connected_gene': 'TMCO1', 'score': 0.44}]
chr1 GH01I165915 165915053 165916194 0.66 [{'connected_gene': 'ENSG00000236364', 'score': 10.79}, {'connected_gene': 'LOC105371586', 'score': 8.78}, {'connected_gene': 'UCK2', 'score': 6.32}, {'connected_gene': 'PIR60084', 'score': 0.44}, {'connected_gene': 'LOC100420658', 'score': 0.31}]
chr1 GH01I165910 165910198 165912393 1.28 [{'connected_gene': 'PIR60084', 'score': 550.77}, {'connected_gene': 'LOC105371586', 'score': 7.82}, {'connected_gene': 'LOC100420658', 'score': 0.29}, {'connected_gene': 'UCK2', 'score': 0.18}]