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
ENST00000471389 [[53737874, 53738141], [53844051, 53844129], [53859775, 53860403], [53878066, 53878210], [53907697, 53907777], [53913755, 53913899], [53922743, 53922863], [53967896, 53968021], [54145673, 54155853]] [[53738096, 53738141], [53844051, 53844129], [53859775, 53860403], [53878066, 53878210], [53907697, 53907777], [53913755, 53913899], [53922743, 53922863], [53967896, 53968021], [54145673, 54145827]]
ENST00000570395 [[53738067, 53738141], [53798073, 53798192], [53844051, 53844129], [53848581, 53848760], [53859775, 53859880]] None
ENST00000464071 [[53738093, 53738141], [53844051, 53844129], [53878066, 53878210], [53907697, 53907777], [53913755, 53913899], [53922743, 53922863], [53967896, 53968021], [54145673, 54145999]] [[53738096, 53738141], [53844051, 53844129], [53878066, 53878156]]
ENST00000394647 [[53738093, 53738141], [53844051, 53844129], [53878066, 53878210], [53907697, 53907777], [53913755, 53913899], [53922743, 53922863], [53967896, 53968021], [54145673, 54145999]] [[53878203, 53878210], [53907697, 53907777], [53913755, 53913899], [53922743, 53922863], [53967896, 53968021], [54145673, 54145827]]
ENST00000431610 [[53920828, 53920865], [53921780, 53921828], [53922743, 53922863], [53967896, 53968021], [54145673, 54146050]] [[53922821, 53922863], [53967896, 53968021], [54145673, 54145827]]
ENST00000460382 [[53920841, 53920887], [53922743, 53922863], [53967896, 53968021], [54145673, 54146899]] [[53922821, 53922863], [53967896, 53968021], [54145673, 54145827]]
ENST00000463855 [[53945167, 53945396], [53967896, 53968021], [54145673, 54148375]] [[53945291, 53945396], [53967896, 53968021], [54145673, 54145827]]
ENST00000268349 [[53967941, 53968021], [54018849, 54018866], [54145673, 54148375]] [[53967941, 53968021], [54018849, 54018866], [54145673, 54145966]]
ENST00000472835 [[54097548, 54097854], [54145673, 54146214]] None
NM_001080432 [[53737874, 53738141], [53844051, 53844129], [53859775, 53860403], [53878066, 53878210], [53907697, 53907777], [53913755, 53913899], [53922743, 53922863], [53967896, 53968021], [54145673, 54148379]] [[53738096, 53738141], [53844051, 53844129], [53859775, 53860403], [53878066, 53878210], [53907697, 53907777], [53913755, 53913899], [53922743, 53922863], [53967896, 53968021], [54145673, 54145827]]
Promoter
Chrom Start End Description
chr16 53738053 53738094 CAGE_peak_1_at_FTO_5end
chr16 53920795 53920815 CAGE_peak_3_at_FTO_5end
chr16 54097622 54097627 CAGE_peak_4_at_FTO_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I053808 53808718 53810057 0.6 [{'connected_gene': 'CHD9', 'score': 11.97}, {'connected_gene': 'RBL2', 'score': 11.69}, {'connected_gene': 'RPGRIP1L', 'score': 11.17}, {'connected_gene': 'FTO', 'score': 11.17}, {'connected_gene': 'LOC100421174', 'score': 10.64}, {'connected_gene': 'GC16P053968', 'score': 0.1}]
chr16 GH16I053904 53904386 53905686 0.2 [{'connected_gene': 'CHD9', 'score': 4.26}, {'connected_gene': 'GC16P053968', 'score': 0.21}, {'connected_gene': 'RPGRIP1L', 'score': 0.08}, {'connected_gene': 'FTO', 'score': 0.08}]
chr16 GH16I053804 53804401 53804800 0.38 [{'connected_gene': 'CHD9', 'score': 4.83}, {'connected_gene': 'RPGRIP1L', 'score': 0.15}, {'connected_gene': 'FTO', 'score': 0.15}, {'connected_gene': 'GC16P053968', 'score': 0.1}]
chr16 GH16I053994 53994909 53996749 0.31 [{'connected_gene': 'IRX3', 'score': 4.42}, {'connected_gene': 'GC16P053999', 'score': 0.77}, {'connected_gene': 'ENSG00000280392', 'score': 0.77}, {'connected_gene': 'FTO', 'score': 0.06}]
chr16 GH16I053820 53820939 53823806 0.83 [{'connected_gene': 'IRX3', 'score': 5.39}, {'connected_gene': 'RPGRIP1L', 'score': 0.13}, {'connected_gene': 'FTO', 'score': 0.13}, {'connected_gene': 'GC16P053968', 'score': 0.11}]
chr16 GH16I053864 53864116 53867101 1.02 [{'connected_gene': 'IRX3', 'score': 9.65}, {'connected_gene': 'GC16P053968', 'score': 0.15}, {'connected_gene': 'RPGRIP1L', 'score': 0.1}, {'connected_gene': 'FTO', 'score': 0.1}]
chr16 GH16I053815 53815938 53818968 0.83 [{'connected_gene': 'FTO', 'score': 6.54}, {'connected_gene': 'RPGRIP1L', 'score': 0.14}, {'connected_gene': 'GC16P053968', 'score': 0.1}]
chr16 GH16I053827 53827889 53827958 0.31 [{'connected_gene': 'FTO', 'score': 0.13}, {'connected_gene': 'RPGRIP1L', 'score': 0.13}, {'connected_gene': 'GC16P053968', 'score': 0.11}]
chr16 GH16I054098 54098739 54100045 0.38 [{'connected_gene': 'FTO', 'score': 5.89}, {'connected_gene': 'GC16P054113', 'score': 0.39}, {'connected_gene': 'GC16M054077', 'score': 0.37}]
chr16 GH16I053040 53040839 53046056 1.44 [{'connected_gene': 'RBL2', 'score': 50.86}, {'connected_gene': 'CHD9', 'score': 35.2}, {'connected_gene': 'LOC100421174', 'score': 21.18}, {'connected_gene': 'FTO', 'score': 12.89}, {'connected_gene': 'LOC105371267', 'score': 0.44}, {'connected_gene': 'LOC100128523', 'score': 0.29}]
chr16 GH16I053692 53692404 53693644 0.74 [{'connected_gene': 'RBL2', 'score': 4.85}, {'connected_gene': 'FTO', 'score': 0.44}, {'connected_gene': 'RPGRIP1L', 'score': 0.39}, {'connected_gene': 'GC16P053662', 'score': 0.29}]
chr16 GH16I053911 53911749 53914204 1.35 [{'connected_gene': 'RBL2', 'score': 4.71}, {'connected_gene': 'AKTIP', 'score': 1.42}, {'connected_gene': 'GC16P053968', 'score': 0.22}, {'connected_gene': 'RPGRIP1L', 'score': 0.08}, {'connected_gene': 'FTO', 'score': 0.08}]
chr16 GH16I053713 53713350 53715380 0.74 [{'connected_gene': 'RBL2', 'score': 5.34}, {'connected_gene': 'RPGRIP1L', 'score': 0.39}, {'connected_gene': 'FTO', 'score': 0.39}, {'connected_gene': 'GC16P053968', 'score': 0.07}]
chr16 GH16I053755 53755201 53757353 1.23 [{'connected_gene': 'RBL2', 'score': 4.49}, {'connected_gene': 'RPGRIP1L', 'score': 0.23}, {'connected_gene': 'FTO', 'score': 0.23}, {'connected_gene': 'GC16P053968', 'score': 0.08}]
chr16 GH16I053960 53960146 53962031 1.06 [{'connected_gene': 'RBL2', 'score': 18.04}, {'connected_gene': 'LOC100421174', 'score': 11.77}, {'connected_gene': 'CHD9', 'score': 9.66}, {'connected_gene': 'GC16P053968', 'score': 0.44}, {'connected_gene': 'RPGRIP1L', 'score': 0.07}, {'connected_gene': 'FTO', 'score': 0.07}]
chr16 GH16I053775 53775216 53777921 1.27 [{'connected_gene': 'RPGRIP1L', 'score': 10.9}, {'connected_gene': 'FTO', 'score': 10.9}, {'connected_gene': 'CHD9', 'score': 10.69}, {'connected_gene': 'GC16P053968', 'score': 0.08}]
chr16 GH16I053778 53778576 53783407 1.38 [{'connected_gene': 'RPGRIP1L', 'score': 10.57}, {'connected_gene': 'FTO', 'score': 10.57}, {'connected_gene': 'CHD9', 'score': 5.28}, {'connected_gene': 'GC16P053968', 'score': 0.09}]
chr16 GH16I053703 53703192 53705162 2.04 [{'connected_gene': 'RPGRIP1L', 'score': 550.77}, {'connected_gene': 'FTO', 'score': 550.77}, {'connected_gene': 'RBL2', 'score': 19.03}, {'connected_gene': 'GC16P053968', 'score': 0.07}]
chr16 GH16I053767 53767864 53770101 1.23 [{'connected_gene': 'RPGRIP1L', 'score': 0.2}, {'connected_gene': 'FTO', 'score': 0.2}, {'connected_gene': 'GC16P053968', 'score': 0.08}]
chr16 GH16I053732 53732069 53733159 0.74 [{'connected_gene': 'RPGRIP1L', 'score': 0.31}, {'connected_gene': 'FTO', 'score': 0.29}, {'connected_gene': 'GC16P053968', 'score': 0.07}]
chr16 GH16I053784 53784409 53784558 0.51 [{'connected_gene': 'RPGRIP1L', 'score': 10.51}, {'connected_gene': 'FTO', 'score': 10.51}, {'connected_gene': 'GC16P053968', 'score': 0.09}]
chr16 GH16I054076 54076854 54078209 1.07 [{'connected_gene': 'RPGRIP1L', 'score': 10.08}, {'connected_gene': 'GC16M054077', 'score': 0.77}, {'connected_gene': 'GC16P054067', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I053726 53726386 53727245 0.52 [{'connected_gene': 'RPGRIP1L', 'score': 0.34}, {'connected_gene': 'FTO', 'score': 0.31}, {'connected_gene': 'GC16P053968', 'score': 0.07}]
chr16 GH16I053765 53765662 53767720 1.04 [{'connected_gene': 'RPGRIP1L', 'score': 0.21}, {'connected_gene': 'FTO', 'score': 0.21}, {'connected_gene': 'GC16P053968', 'score': 0.08}]
chr16 GH16I053694 53694772 53695852 0.31 [{'connected_gene': 'RPGRIP1L', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.44}, {'connected_gene': 'GC16P053662', 'score': 0.29}]
chr16 GH16I053743 53743966 53746758 1.22 [{'connected_gene': 'RPGRIP1L', 'score': 11.59}, {'connected_gene': 'FTO', 'score': 11.59}, {'connected_gene': 'GC16P053968', 'score': 0.07}]
chr16 GH16I053789 53789289 53789438 0.31 [{'connected_gene': 'RPGRIP1L', 'score': 0.17}, {'connected_gene': 'FTO', 'score': 0.17}, {'connected_gene': 'GC16P053968', 'score': 0.1}]
chr16 GH16I053723 53723039 53723373 0.4 [{'connected_gene': 'RPGRIP1L', 'score': 0.37}, {'connected_gene': 'FTO', 'score': 0.34}, {'connected_gene': 'GC16P053968', 'score': 0.07}]
chr16 GH16I053772 53772789 53774899 1.32 [{'connected_gene': 'RPGRIP1L', 'score': 0.2}, {'connected_gene': 'FTO', 'score': 0.19}, {'connected_gene': 'GC16P053968', 'score': 0.08}]
chr16 GH16I053741 53741418 53742790 0.54 [{'connected_gene': 'RPGRIP1L', 'score': 10.65}, {'connected_gene': 'FTO', 'score': 10.64}, {'connected_gene': 'GC16P053968', 'score': 0.07}]
chr16 GH16I054057 54057611 54058233 0.2 [{'connected_gene': 'LOC105371271', 'score': 550.77}, {'connected_gene': 'GC16P054061', 'score': 0.77}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I054040 54040642 54040758 0.8 [{'connected_gene': 'FTO-IT1', 'score': 550.77}, {'connected_gene': 'ENSG00000261049', 'score': 0.39}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I054022 54022579 54022906 0.4 [{'connected_gene': 'FTO-IT1', 'score': 0.37}, {'connected_gene': 'ENSG00000260194', 'score': 0.34}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I054026 54026413 54028556 0.84 [{'connected_gene': 'FTO-IT1', 'score': 0.39}, {'connected_gene': 'ENSG00000260194', 'score': 0.31}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I053666 53666667 53667621 0.2 [{'connected_gene': 'GC16P053662', 'score': 0.77}, {'connected_gene': 'FTO', 'score': 0.29}, {'connected_gene': 'RPGRIP1L', 'score': 0.28}]
chr16 GH16I053846 53846801 53847400 0.2 [{'connected_gene': 'GC16P053968', 'score': 0.13}, {'connected_gene': 'FTO', 'score': 0.11}, {'connected_gene': 'RPGRIP1L', 'score': 0.11}]
chr16 GH16I053952 53952389 53954281 1.32 [{'connected_gene': 'GC16P053968', 'score': 0.37}, {'connected_gene': 'FTO', 'score': 0.07}, {'connected_gene': 'RPGRIP1L', 'score': 0.07}]
chr16 GH16I054062 54062467 54062638 0.69 [{'connected_gene': 'GC16P054061', 'score': 550.77}, {'connected_gene': 'GC16P054067', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I053971 53971312 53972227 0.2 [{'connected_gene': 'GC16P053968', 'score': 0.77}, {'connected_gene': 'ENSG00000261630', 'score': 0.39}, {'connected_gene': 'FTO', 'score': 0.06}]
chr16 GH16I054134 54134905 54136793 0.58 [{'connected_gene': 'GC16M054122', 'score': 0.39}, {'connected_gene': 'ENSG00000259759', 'score': 0.15}, {'connected_gene': 'FTO', 'score': 0.04}]
chr16 GH16I054109 54109942 54110955 0.8 [{'connected_gene': 'GC16P054113', 'score': 0.77}, {'connected_gene': 'GC16M054077', 'score': 0.31}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I053978 53978952 53980902 0.38 [{'connected_gene': 'ENSG00000261630', 'score': 550.77}, {'connected_gene': 'GC16P053968', 'score': 0.39}, {'connected_gene': 'FTO', 'score': 0.06}]
chr16 GH16I054123 54123575 54124458 0.2 [{'connected_gene': 'GC16M054122', 'score': 550.77}, {'connected_gene': 'ENSG00000259759', 'score': 0.13}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I054105 54105894 54106356 0.54 [{'connected_gene': 'GC16P054113', 'score': 0.44}, {'connected_gene': 'GC16M054077', 'score': 0.34}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I053982 53982075 53984383 0.56 [{'connected_gene': 'ENSG00000261630', 'score': 550.77}, {'connected_gene': 'ENSG00000280392', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.06}]
chr16 GH16I053987 53987599 53990662 0.43 [{'connected_gene': 'ENSG00000280392', 'score': 550.77}, {'connected_gene': 'ENSG00000261630', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.06}]
chr16 GH16I054125 54125249 54125378 0.66 [{'connected_gene': 'GC16M054122', 'score': 550.77}, {'connected_gene': 'ENSG00000259759', 'score': 0.14}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I053968 53968125 53969348 0.31 [{'connected_gene': 'GC16P053968', 'score': 550.77}, {'connected_gene': 'ENSG00000261630', 'score': 0.39}, {'connected_gene': 'FTO', 'score': 0.06}]
chr16 GH16I054126 54125675 54126598 0.64 [{'connected_gene': 'GC16M054122', 'score': 0.77}, {'connected_gene': 'ENSG00000259759', 'score': 0.14}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I054079 54079759 54081683 1.31 [{'connected_gene': 'GC16M054077', 'score': 550.77}, {'connected_gene': 'FTO', 'score': 5.19}, {'connected_gene': 'GC16P054067', 'score': 0.39}]
chr16 GH16I053986 53986853 53987077 0.4 [{'connected_gene': 'ENSG00000280392', 'score': 0.77}, {'connected_gene': 'ENSG00000261630', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.06}]
chr16 GH16I053990 53990968 53992861 1.2 [{'connected_gene': 'ENSG00000280392', 'score': 550.77}, {'connected_gene': 'GC16P053999', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.06}]
chr16 GH16I054072 54072036 54072982 0.43 [{'connected_gene': 'GC16P054067', 'score': 0.77}, {'connected_gene': 'GC16M054077', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I054067 54067357 54067711 0.94 [{'connected_gene': 'GC16P054067', 'score': 550.77}, {'connected_gene': 'RBL2', 'score': 12.43}, {'connected_gene': 'GC16P054061', 'score': 0.44}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I053947 53946029 53946178 0.94 [{'connected_gene': 'GC16P053968', 'score': 0.34}, {'connected_gene': 'RPGRIP1L', 'score': 0.07}, {'connected_gene': 'FTO', 'score': 0.07}]
chr16 GH16I053936 53936649 53936798 0.31 [{'connected_gene': 'GC16P053968', 'score': 0.29}, {'connected_gene': 'RPGRIP1L', 'score': 0.07}, {'connected_gene': 'FTO', 'score': 0.07}]
chr16 GH16I053892 53892001 53892401 1.05 [{'connected_gene': 'GC16P053968', 'score': 0.18}, {'connected_gene': 'RPGRIP1L', 'score': 0.09}, {'connected_gene': 'FTO', 'score': 0.08}]
chr16 GH16I053874 53874260 53874324 0.22 [{'connected_gene': 'GC16P053968', 'score': 0.16}, {'connected_gene': 'RPGRIP1L', 'score': 0.09}, {'connected_gene': 'FTO', 'score': 0.09}]
chr16 GH16I053931 53931798 53935221 0.52 [{'connected_gene': 'GC16P053968', 'score': 0.28}, {'connected_gene': 'RPGRIP1L', 'score': 0.07}, {'connected_gene': 'FTO', 'score': 0.07}]
chr16 GH16I053872 53872276 53873406 0.46 [{'connected_gene': 'GC16P053968', 'score': 0.15}, {'connected_gene': 'RPGRIP1L', 'score': 0.1}, {'connected_gene': 'FTO', 'score': 0.09}]
chr16 GH16I053914 53914289 53916386 0.98 [{'connected_gene': 'GC16P053968', 'score': 0.23}, {'connected_gene': 'RPGRIP1L', 'score': 0.08}, {'connected_gene': 'FTO', 'score': 0.08}]
chr16 GH16I053923 53923212 53923604 0.83 [{'connected_gene': 'GC16P053968', 'score': 0.25}, {'connected_gene': 'RPGRIP1L', 'score': 0.08}, {'connected_gene': 'FTO', 'score': 0.07}]
chr16 GH16I053895 53895301 53895912 0.8 [{'connected_gene': 'GC16P053968', 'score': 0.19}, {'connected_gene': 'RPGRIP1L', 'score': 0.08}, {'connected_gene': 'FTO', 'score': 0.08}]
chr16 GH16I053664 53664211 53666083 0.58 [{'connected_gene': 'GC16P053662', 'score': 0.77}, {'connected_gene': 'RPGRIP1L', 'score': 0.28}, {'connected_gene': 'FTO', 'score': 0.28}]
chr16 GH16I053935 53935560 53936639 0.31 [{'connected_gene': 'GC16P053968', 'score': 0.29}, {'connected_gene': 'RPGRIP1L', 'score': 0.07}, {'connected_gene': 'FTO', 'score': 0.07}]
chr16 GH16I053899 53899087 53900307 0.54 [{'connected_gene': 'GC16P053968', 'score': 0.2}, {'connected_gene': 'RPGRIP1L', 'score': 0.08}, {'connected_gene': 'FTO', 'score': 0.08}]
chr16 GH16I053894 53894200 53894401 1.03 [{'connected_gene': 'GC16P053968', 'score': 0.19}, {'connected_gene': 'RPGRIP1L', 'score': 0.08}, {'connected_gene': 'FTO', 'score': 0.08}]
chr16 GH16I053964 53964549 53964698 0.2 [{'connected_gene': 'GC16P053968', 'score': 0.77}, {'connected_gene': 'RPGRIP1L', 'score': 0.07}, {'connected_gene': 'FTO', 'score': 0.07}]
chr16 GH16I053880 53880464 53882963 1.13 [{'connected_gene': 'GC16P053968', 'score': 0.17}, {'connected_gene': 'RPGRIP1L', 'score': 0.1}, {'connected_gene': 'FTO', 'score': 0.09}]
chr16 GH16I053946 53946516 53947398 1.09 [{'connected_gene': 'GC16P053968', 'score': 0.34}, {'connected_gene': 'RPGRIP1L', 'score': 0.07}, {'connected_gene': 'FTO', 'score': 0.07}]
chr16 GH16I054058 54058702 54060209 1.4 [{'connected_gene': 'GC16P054061', 'score': 550.77}, {'connected_gene': 'LOC105371271', 'score': 0.77}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I054055 54055572 54057459 0.52 [{'connected_gene': 'ENSG00000261049', 'score': 550.77}, {'connected_gene': 'LOC105371271', 'score': 550.77}, {'connected_gene': 'GC16P054061', 'score': 0.77}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I054049 54049117 54052195 0.97 [{'connected_gene': 'ENSG00000261049', 'score': 0.77}, {'connected_gene': 'FTO-IT1', 'score': 0.39}, {'connected_gene': 'FTO', 'score': 0.05}]
chr16 GH16I054053 54053469 54053618 0.4 [{'connected_gene': 'ENSG00000261049', 'score': 550.77}, {'connected_gene': 'FTO-IT1', 'score': 0.39}, {'connected_gene': 'FTO', 'score': 0.05}]

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