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
ENST00000388837 [[53342654, 53342722], [53342956, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346126], [53346505, 53346684]] [[53342957, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346126], [53346505, 53346626]]
ENST00000550600 [[53342669, 53342722], [53342956, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346596]] [[53342957, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346130]]
ENST00000388835 [[53342747, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346126], [53346505, 53346685]] [[53342957, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346126], [53346505, 53346626]]
ENST00000549078 [[53342910, 53343374], [53344111, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346656]] None
ENST00000548496 [[53345525, 53346126], [53346505, 53346599]] None
ENST00000548015 [[53343588, 53344194], [53344533, 53344690], [53345264, 53345429]] None
ENST00000546656 [[53345279, 53345640], [53345902, 53346062]] None
NM_199187 [[53342654, 53342722], [53342956, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346126], [53346505, 53346685]] [[53342957, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346126], [53346505, 53346626]]
NM_000224 [[53342842, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346126], [53346505, 53346685]] [[53342957, 53343374], [53344111, 53344194], [53344533, 53344690], [53345264, 53345429], [53345514, 53345640], [53345902, 53346126], [53346505, 53346626]]
Promoter
Chrom Start End Description
chr12 53342625 53342694 CAGE_peak_2_at_KRT18_5end
chr12 53342893 53342911 CAGE_peak_1_at_KRT18_5end
chr12 53343121 53343150 CAGE_peak_6_at_KRT18_5end
chr12 53343831 53343861 CAGE_peak_5_at_KRT18_5end
chr12 53344266 53344294 CAGE_peak_10_at_KRT18_5end
chr12 53344588 53344613 CAGE_peak_4_at_KRT18_5end
chr12 53345639 53345644 CAGE_peak_8_at_KRT18_5end
chr12 53345928 53345949 CAGE_peak_3_at_KRT18_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I052941 52941755 52953466 2.78 [{'connected_gene': 'KRT18', 'score': 560.82}, {'connected_gene': 'KRT8', 'score': 560.62}, {'connected_gene': 'PCBP2', 'score': 28.01}, {'connected_gene': 'SP1', 'score': 24.27}, {'connected_gene': 'ZNF740', 'score': 23.04}, {'connected_gene': 'AAAS', 'score': 22.44}, {'connected_gene': 'ENSG00000257808', 'score': 19.06}, {'connected_gene': 'EIF4B', 'score': 19.05}, {'connected_gene': 'ATG101', 'score': 13.75}, {'connected_gene': 'ATF7', 'score': 12.74}, {'connected_gene': 'LOC100652999', 'score': 12.05}, {'connected_gene': 'CALCOCO1', 'score': 10.75}, {'connected_gene': 'KRT7-AS', 'score': 10.51}, {'connected_gene': 'KRT71', 'score': 9.18}, {'connected_gene': 'LOC283335', 'score': 4.6}, {'connected_gene': 'GC12M052900', 'score': 0.25}]
chr12 GH12I052968 52968804 52973493 1.35 [{'connected_gene': 'KRT18', 'score': 19.45}, {'connected_gene': 'KRT79', 'score': 10.09}, {'connected_gene': 'KRT82', 'score': 10.03}, {'connected_gene': 'KRT84', 'score': 9.64}, {'connected_gene': 'KRT71', 'score': 9.27}, {'connected_gene': 'KRT4', 'score': 9.06}, {'connected_gene': 'KRT86', 'score': 8.65}, {'connected_gene': 'KRT8', 'score': 5.58}, {'connected_gene': 'LOC283335', 'score': 5.49}, {'connected_gene': 'SOAT2', 'score': 5.07}, {'connected_gene': 'EIF4B', 'score': 4.5}]
chr12 GH12I052920 52920624 52923488 0.89 [{'connected_gene': 'KRT18', 'score': 19.72}, {'connected_gene': 'SP1', 'score': 15.59}, {'connected_gene': 'ZNF740', 'score': 14.5}, {'connected_gene': 'PCBP2', 'score': 14.44}, {'connected_gene': 'LOC100652999', 'score': 13.39}, {'connected_gene': 'ATF7', 'score': 13.08}, {'connected_gene': 'AAAS', 'score': 12.27}, {'connected_gene': 'EIF4B', 'score': 11.11}, {'connected_gene': 'CALCOCO1', 'score': 10.67}, {'connected_gene': 'CSAD', 'score': 10.41}, {'connected_gene': 'NPFF', 'score': 10.3}, {'connected_gene': 'KRT79', 'score': 10.14}, {'connected_gene': 'ENSG00000257808', 'score': 9.86}, {'connected_gene': 'KRT84', 'score': 9.71}, {'connected_gene': 'SOAT2', 'score': 9.63}, {'connected_gene': 'KRT7', 'score': 9.4}, {'connected_gene': 'KRT83', 'score': 9.16}, {'connected_gene': 'GC12M052900', 'score': 0.34}, {'connected_gene': 'KRT8', 'score': 0.31}]
chr12 GH12I052988 52988905 52989351 0.72 [{'connected_gene': 'KRT18', 'score': 11.19}, {'connected_gene': 'EIF4B', 'score': 0.37}, {'connected_gene': 'KRT8', 'score': 0.28}]
chr12 GH12I052911 52911529 52916364 0.86 [{'connected_gene': 'KRT18', 'score': 18.96}, {'connected_gene': 'KRT78', 'score': 9.95}, {'connected_gene': 'KRT84', 'score': 9.1}, {'connected_gene': 'KRT8', 'score': 8.72}, {'connected_gene': 'IGFBP6', 'score': 8.39}, {'connected_gene': 'SOAT2', 'score': 8.39}, {'connected_gene': 'GC12M052900', 'score': 0.39}]
chr12 GH12I052918 52918470 52918621 0.66 [{'connected_gene': 'KRT18', 'score': 11.81}, {'connected_gene': 'KRT78', 'score': 9.95}, {'connected_gene': 'KRT8', 'score': 9.16}, {'connected_gene': 'KRT84', 'score': 9.11}, {'connected_gene': 'IGFBP6', 'score': 8.4}, {'connected_gene': 'SOAT2', 'score': 8.39}, {'connected_gene': 'GC12M052900', 'score': 0.37}]
chr12 GH12I052887 52887860 52889647 0.46 [{'connected_gene': 'KRT18', 'score': 11.88}, {'connected_gene': 'KRT78', 'score': 10.58}, {'connected_gene': 'KRT4', 'score': 9.57}, {'connected_gene': 'KRT84', 'score': 9.41}, {'connected_gene': 'IGFBP6', 'score': 9.06}, {'connected_gene': 'SOAT2', 'score': 9.06}, {'connected_gene': 'KRT8', 'score': 7.17}, {'connected_gene': 'PFDN5', 'score': 5.51}, {'connected_gene': 'RPL7P41', 'score': 0.77}, {'connected_gene': 'GC12M052899', 'score': 0.44}, {'connected_gene': 'GC12M052898', 'score': 0.44}]
chr12 GH12I052891 52891105 52891394 0.45 [{'connected_gene': 'KRT18', 'score': 14.23}, {'connected_gene': 'KRT78', 'score': 10.44}, {'connected_gene': 'KRT79', 'score': 10.08}, {'connected_gene': 'KRT4', 'score': 9.65}, {'connected_gene': 'KRT84', 'score': 9.41}, {'connected_gene': 'KRT8', 'score': 8.49}, {'connected_gene': 'KRT83', 'score': 8.38}, {'connected_gene': 'ZNF740', 'score': 2.82}, {'connected_gene': 'SP1', 'score': 1.54}, {'connected_gene': 'GC12M052899', 'score': 0.44}, {'connected_gene': 'GC12M052898', 'score': 0.44}, {'connected_gene': 'RPL7P41', 'score': 0.44}]
chr12 GH12I052978 52978642 52979842 0.2 [{'connected_gene': 'KRT18', 'score': 12.25}, {'connected_gene': 'KRT71', 'score': 9.91}, {'connected_gene': 'KRT84', 'score': 9.61}, {'connected_gene': 'IGFBP6', 'score': 9.34}, {'connected_gene': 'SOAT2', 'score': 9.33}, {'connected_gene': 'EIF4B', 'score': 7.94}, {'connected_gene': 'TNS2', 'score': 5.11}, {'connected_gene': 'KRT8', 'score': 0.31}]
chr12 GH12I052923 52923767 52929926 1.94 [{'connected_gene': 'KRT8', 'score': 559.02}, {'connected_gene': 'KRT18', 'score': 20.24}, {'connected_gene': 'PFDN5', 'score': 13.76}, {'connected_gene': 'CSAD', 'score': 11.43}, {'connected_gene': 'ZNF740', 'score': 9.97}, {'connected_gene': 'KRT84', 'score': 9.71}, {'connected_gene': 'GC12M052900', 'score': 0.34}]
chr12 GH12I052491 52491379 52497734 1.85 [{'connected_gene': 'KRT6A', 'score': 563.51}, {'connected_gene': 'KRT6C', 'score': 21.45}, {'connected_gene': 'KRT5', 'score': 19.58}, {'connected_gene': 'KRT71', 'score': 10.39}, {'connected_gene': 'KRT82', 'score': 10.29}, {'connected_gene': 'KRT84', 'score': 10.01}, {'connected_gene': 'KRT87P', 'score': 9.88}, {'connected_gene': 'KRT86', 'score': 9.88}, {'connected_gene': 'KRT2', 'score': 9.71}, {'connected_gene': 'KRT78', 'score': 9.69}, {'connected_gene': 'KRT83', 'score': 9.47}, {'connected_gene': 'PFDN5', 'score': 4.93}, {'connected_gene': 'KRT6B', 'score': 3.27}, {'connected_gene': 'ATG101', 'score': 1.61}, {'connected_gene': 'KRT75', 'score': 1.48}, {'connected_gene': 'KRT7', 'score': 1.33}, {'connected_gene': 'KRT18', 'score': 1.3}, {'connected_gene': 'GC12M052518', 'score': 0.34}]
chr12 GH12I052869 52869799 52876851 1.78 [{'connected_gene': 'KRT2', 'score': 20.63}, {'connected_gene': 'PCBP2', 'score': 19.35}, {'connected_gene': 'EIF4B', 'score': 15.65}, {'connected_gene': 'AAAS', 'score': 15.53}, {'connected_gene': 'SP1', 'score': 14.86}, {'connected_gene': 'ZNF740', 'score': 14.44}, {'connected_gene': 'ATF7', 'score': 12.74}, {'connected_gene': 'KRT84', 'score': 12.12}, {'connected_gene': 'LOC100652999', 'score': 12.05}, {'connected_gene': 'PFDN5', 'score': 10.79}, {'connected_gene': 'CALCOCO1', 'score': 10.75}, {'connected_gene': 'KRT79', 'score': 10.51}, {'connected_gene': 'ENSG00000257808', 'score': 9.79}, {'connected_gene': 'KRT4', 'score': 7.83}, {'connected_gene': 'KRT8', 'score': 7.29}, {'connected_gene': 'KRT18', 'score': 6.57}, {'connected_gene': 'KRT78', 'score': 6.4}, {'connected_gene': 'KRT3', 'score': 5.12}, {'connected_gene': 'KRT6C', 'score': 3.8}, {'connected_gene': 'KRT76', 'score': 3.79}, {'connected_gene': 'KRT1', 'score': 3.04}, {'connected_gene': 'RARG', 'score': 2.73}, {'connected_gene': 'KRT6A', 'score': 1.41}, {'connected_gene': 'KRT5', 'score': 1.26}, {'connected_gene': 'RPL7P41', 'score': 0.39}]
chr12 GH12I052974 52974386 52977851 1.34 [{'connected_gene': 'EIF4B', 'score': 14.02}, {'connected_gene': 'KRT18', 'score': 12.27}, {'connected_gene': 'KRT82', 'score': 10.03}, {'connected_gene': 'KRT71', 'score': 9.92}, {'connected_gene': 'KRT84', 'score': 9.61}, {'connected_gene': 'SOAT2', 'score': 9.34}, {'connected_gene': 'IGFBP6', 'score': 9.33}, {'connected_gene': 'KRT8', 'score': 4.75}, {'connected_gene': 'TNS2', 'score': 4.55}]
chr12 GH12I052991 52991403 52994032 1.29 [{'connected_gene': 'EIF4B', 'score': 14.24}, {'connected_gene': 'KRT18', 'score': 11.19}, {'connected_gene': 'TNS2', 'score': 8.78}, {'connected_gene': 'SPRYD3', 'score': 6.63}, {'connected_gene': 'KRT8', 'score': 0.26}]
chr12 GH12I052964 52964308 52965980 1.18 [{'connected_gene': 'KRT78', 'score': 10.24}, {'connected_gene': 'KRT79', 'score': 10.04}, {'connected_gene': 'KRT84', 'score': 9.71}, {'connected_gene': 'KRT71', 'score': 9.11}, {'connected_gene': 'KRT86', 'score': 9.11}, {'connected_gene': 'KRT4', 'score': 8.74}, {'connected_gene': 'KRT87P', 'score': 5.88}, {'connected_gene': 'PCBP2', 'score': 2.22}, {'connected_gene': 'AMHR2', 'score': 1.79}, {'connected_gene': 'KRT18', 'score': 1.59}, {'connected_gene': 'KRT8', 'score': 1.57}, {'connected_gene': 'EIF4B', 'score': 0.26}]
chr12 GH12I052883 52883858 52885724 1.36 [{'connected_gene': 'RPL7P41', 'score': 550.77}, {'connected_gene': 'MAP3K12', 'score': 14.88}, {'connected_gene': 'TARBP2', 'score': 13.59}, {'connected_gene': 'ZNF740', 'score': 13.46}, {'connected_gene': 'AAAS', 'score': 12.84}, {'connected_gene': 'SP1', 'score': 11.81}, {'connected_gene': 'CSAD', 'score': 11.57}, {'connected_gene': 'ENSG00000257808', 'score': 11.52}, {'connected_gene': 'ATF7', 'score': 11.49}, {'connected_gene': 'PCBP2', 'score': 11.25}, {'connected_gene': 'NPFF', 'score': 10.06}, {'connected_gene': 'LOC100652999', 'score': 9.93}, {'connected_gene': 'KRT18', 'score': 6.06}, {'connected_gene': 'KRT8', 'score': 5.27}, {'connected_gene': 'KRT78', 'score': 0.28}]
chr12 GH12I052886 52886514 52887402 0.31 [{'connected_gene': 'RPL7P41', 'score': 550.77}, {'connected_gene': 'KRT18', 'score': 11.88}, {'connected_gene': 'KRT78', 'score': 10.58}, {'connected_gene': 'KRT4', 'score': 9.57}, {'connected_gene': 'KRT84', 'score': 9.41}, {'connected_gene': 'SOAT2', 'score': 9.06}, {'connected_gene': 'IGFBP6', 'score': 9.06}, {'connected_gene': 'GC12M052899', 'score': 0.39}, {'connected_gene': 'GC12M052898', 'score': 0.39}]
chr12 GH12I052980 52980193 52981401 1.44 [{'connected_gene': 'ENSG00000270175', 'score': 12.38}, {'connected_gene': 'KRT18', 'score': 12.25}, {'connected_gene': 'MAP3K12', 'score': 11.14}, {'connected_gene': 'KRT71', 'score': 9.91}, {'connected_gene': 'KRT84', 'score': 9.61}, {'connected_gene': 'IGFBP6', 'score': 9.34}, {'connected_gene': 'SOAT2', 'score': 9.33}, {'connected_gene': 'EIF4B', 'score': 0.31}, {'connected_gene': 'KRT8', 'score': 0.29}]
chr12 GH12I052894 52894877 52910978 2.31 [{'connected_gene': 'GC12M052900', 'score': 550.77}, {'connected_gene': 'ZNF740', 'score': 82.97}, {'connected_gene': 'AAAS', 'score': 75.5}, {'connected_gene': 'PCBP2', 'score': 53.52}, {'connected_gene': 'SP1', 'score': 50.57}, {'connected_gene': 'MAP3K12', 'score': 47.43}, {'connected_gene': 'ATF7', 'score': 32.92}, {'connected_gene': 'LOC100652999', 'score': 32.28}, {'connected_gene': 'EIF4B', 'score': 27.31}, {'connected_gene': 'ENSG00000257808', 'score': 27.13}, {'connected_gene': 'ATG101', 'score': 22.94}, {'connected_gene': 'TARBP2', 'score': 20.72}, {'connected_gene': 'CALCOCO1', 'score': 19.69}, {'connected_gene': 'CSAD', 'score': 19.28}, {'connected_gene': 'KRT18', 'score': 18.74}, {'connected_gene': 'SPRYD3', 'score': 14.0}, {'connected_gene': 'PFDN5', 'score': 13.37}, {'connected_gene': 'ENSG00000257605', 'score': 11.94}, {'connected_gene': 'C12orf10', 'score': 11.93}, {'connected_gene': 'KRT7-AS', 'score': 10.51}, {'connected_gene': 'NPFF', 'score': 10.3}, {'connected_gene': 'KRT74', 'score': 10.22}, {'connected_gene': 'KRT78', 'score': 10.11}, {'connected_gene': 'KRT79', 'score': 10.1}, {'connected_gene': 'KRT8', 'score': 9.93}, {'connected_gene': 'KRT82', 'score': 9.58}, {'connected_gene': 'KRT84', 'score': 9.42}, {'connected_gene': 'IGFBP6', 'score': 9.4}, {'connected_gene': 'SOAT2', 'score': 9.4}, {'connected_gene': 'KRT83', 'score': 9.17}, {'connected_gene': 'KRT1', 'score': 1.74}, {'connected_gene': 'KRT76', 'score': 1.71}, {'connected_gene': 'GC12M052898', 'score': 0.44}, {'connected_gene': 'GC12M052899', 'score': 0.44}]

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