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
ENST00000392129 [[165696031, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737918, 165738139]] [[165697259, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737918, 165737988]]
ENST00000367881 [[165696031, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737918, 165738417]] [[165697259, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737918, 165738141]]
ENST00000580248 [[165696542, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165766933, 165767050], [165769154, 165769272], [165796706, 165796992]] [[165697259, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723467]]
ENST00000464650 [[165696774, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737995, 165738113]] [[165697259, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723467]]
ENST00000476143 [[165697322, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165737428, 165737506], [165737918, 165738125]] [[165723509, 165723511], [165737428, 165737506], [165737918, 165738125]]
ENST00000481278 [[165712405, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737718, 165738074]] [[165712405, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737718, 165737752]]
ENST00000465705 [[165712415, 165712548], [165721338, 165721406], [165723464, 165723511], [165724090, 165724227], [165728761, 165728821], [165737428, 165737506], [165737918, 165738155]] [[165724129, 165724227], [165728761, 165728821], [165737428, 165737506], [165737918, 165738141]]
NM_001256165 [[165693527, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737718, 165738159]] [[165697259, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737718, 165737752]]
NM_019026 [[165693527, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737918, 165738159]] [[165697259, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737918, 165738141]]
NR_045818 [[165693527, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737506], [165737995, 165738159]] None
NM_001256164 [[165693527, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737481], [165737995, 165738159]] [[165697259, 165697358], [165712403, 165712548], [165721338, 165721406], [165723464, 165723511], [165728761, 165728821], [165737428, 165737481], [165737995, 165738141]]
Promoter
Chrom Start End Description
chr1 165738056 165738067 CAGE_peak_2_at_TMCO1_5end
chr1 165738072 165738083 CAGE_peak_3_at_TMCO1_5end
chr1 165738085 165738139 CAGE_peak_1_at_TMCO1_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 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 GH01I165767 165767640 165770435 2.09 [{'connected_gene': 'LOC100147773', 'score': 562.79}, {'connected_gene': 'TMCO1', 'score': 550.22}, {'connected_gene': 'LOC284685', 'score': 21.35}, {'connected_gene': 'ALDH9A1', 'score': 18.17}, {'connected_gene': 'GC01P165777', 'score': 0.44}]
chr1 GH01I165772 165772287 165774081 1.05 [{'connected_gene': 'LOC100147773', 'score': 5.84}, {'connected_gene': 'TMCO1', 'score': 5.6}, {'connected_gene': 'GC01P165777', 'score': 0.77}]
chr1 GH01I165747 165747644 165747813 0.65 [{'connected_gene': 'LOC100147773', 'score': 0.34}, {'connected_gene': 'LOC105371581', 'score': 0.28}, {'connected_gene': 'TMCO1', 'score': 0.18}]
chr1 GH01I165748 165748164 165748313 0.52 [{'connected_gene': 'LOC100147773', 'score': 0.34}, {'connected_gene': 'LOC105371581', 'score': 0.28}, {'connected_gene': 'TMCO1', 'score': 0.18}]
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}]