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
ENST00000541239 [[111293758, 111293955], [111294661, 111297980]] None
ENST00000540006 [[111293758, 111293955], [111294661, 111294868], [111296411, 111296529], [111296731, 111296953], [111298313, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111316208]] None
ENST00000375781 [[111293763, 111293955], [111294661, 111296529], [111296731, 111296830], [111298313, 111298437], [111299447, 111299586], [111315797, 111316122]] None
ENST00000257347 [[111293763, 111293955], [111294661, 111294868], [111296731, 111296830], [111298313, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865], [111319686, 111319820], [111329320, 111329450], [111335397, 111335481], [111340067, 111340173], [111340293, 111340365], [111353784, 111353902], [111357867, 111357918], [111358216, 111358504]] [[111293883, 111293955], [111294661, 111294868], [111296731, 111296830], [111298313, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865], [111319686, 111319820], [111329320, 111329450], [111335397, 111335481], [111340067, 111340173], [111340293, 111340365], [111353784, 111353902], [111357867, 111357918], [111358216, 111358440]]
ENST00000535516 [[111293765, 111293955], [111294661, 111294868], [111296731, 111296830], [111298313, 111299586], [111302983, 111303447], [111315797, 111315877]] None
ENST00000537802 [[111293765, 111293955], [111294661, 111294868], [111296411, 111296529], [111296731, 111296830], [111298313, 111299586], [111300664, 111301644], [111303380, 111303447], [111315797, 111315865], [111317874, 111318097]] None
ENST00000481787 [[111293789, 111293955], [111294661, 111294868], [111296731, 111296830], [111298313, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865], [111319686, 111319820], [111329320, 111329450], [111335397, 111335486]] None
ENST00000542774 [[111293930, 111293955], [111294661, 111294868], [111296411, 111296529], [111296731, 111297028]] None
ENST00000487253 [[111293933, 111293955], [111294661, 111294868], [111296411, 111296529], [111296731, 111296830], [111298313, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865]] [[111296496, 111296529], [111296731, 111296830], [111298313, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865]]
ENST00000471986 [[111294733, 111294844], [111298313, 111298420]] None
ENST00000480437 [[111294793, 111294868], [111296731, 111296830], [111298313, 111298625]] None
ENST00000535615 [[111294857, 111294868], [111296731, 111296830], [111298313, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865], [111317874, 111318077]] None
ENST00000535398 [[111296302, 111296327], [111296411, 111296529], [111296731, 111296830], [111298313, 111298437], [111298851, 111298978], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865], [111319686, 111319820], [111329320, 111329450], [111335397, 111335481], [111340067, 111340173], [111340293, 111340365], [111353784, 111353902], [111365483, 111365950]] None
ENST00000540215 [[111296733, 111296953], [111298313, 111298723]] None
ENST00000543487 [[111298276, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865], [111319686, 111319820], [111329320, 111329450], [111330269, 111330440]] None
ENST00000541362 [[111298813, 111299586], [111315797, 111315865], [111317874, 111318084]] None
ENST00000537386 [[111299025, 111299586], [111315797, 111315975]] None
ENST00000545506 [[111299197, 111299586], [111303380, 111303447], [111315797, 111315865], [111317874, 111318138]] None
ENST00000537404 [[111299207, 111299586], [111303380, 111303554]] None
ENST00000539405 [[111302593, 111303447], [111315797, 111315865], [111319686, 111319805]] None
ENST00000537743 [[111315184, 111315397], [111315797, 111315865], [111319686, 111319820], [111329320, 111329371]] [[111315373, 111315397], [111315797, 111315865], [111319686, 111319820], [111329320, 111329371]]
ENST00000465145 [[111319782, 111319820], [111329320, 111329450], [111335397, 111335481], [111340067, 111340173], [111340293, 111340365], [111350264, 111350314], [111353784, 111353902], [111357867, 111357918], [111358717, 111358816]] None
ENST00000539269 [[111329320, 111329450], [111335397, 111335481], [111340067, 111340173], [111340293, 111340365], [111350264, 111350314], [111353784, 111353902], [111357867, 111357918], [111358216, 111358400]] [[111350308, 111350314], [111353784, 111353902], [111357867, 111357918], [111358216, 111358400]]
ENST00000544488 [[111329345, 111329450], [111335397, 111335481], [111365483, 111365869]] None
ENST00000541443 [[111329442, 111329450], [111335397, 111335481], [111340067, 111340173], [111340293, 111340365], [111353784, 111353902], [111357867, 111357918], [111358717, 111358852]] None
ENST00000542126 [[111340067, 111340173], [111340293, 111340365], [111353784, 111353902], [111357867, 111357918], [111365649, 111365869]] None
ENST00000542709 [[111340068, 111340173], [111340293, 111340365], [111353784, 111353902], [111357867, 111358144]] [[111340068, 111340173], [111340293, 111340365], [111353784, 111353902], [111357867, 111358115]]
ENST00000537394 [[111340078, 111340173], [111340293, 111340365], [111341131, 111341251], [111353784, 111353902], [111357867, 111357918], [111358216, 111358480]] [[111341179, 111341251], [111353784, 111353902], [111357867, 111357918], [111358216, 111358440]]
ENST00000540629 [[111340138, 111340173], [111340293, 111340365], [111353784, 111353902], [111357867, 111357918], [111364578, 111364833]] None
ENST00000540785 [[111353697, 111353902], [111357867, 111357963]] None
ENST00000537412 [[111353848, 111353902], [111357867, 111357918], [111365483, 111365948]] None
ENST00000485188 [[111357867, 111357918], [111359684, 111359990], [111365483, 111365882]] None
NM_024537 [[111293756, 111293955], [111294661, 111294868], [111296731, 111296830], [111298313, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865], [111319686, 111319820], [111329320, 111329450], [111335397, 111335481], [111340067, 111340173], [111340293, 111340365], [111353784, 111353902], [111357867, 111357918], [111358216, 111358527]] [[111293883, 111293955], [111294661, 111294868], [111296731, 111296830], [111298313, 111298437], [111299447, 111299586], [111303380, 111303447], [111315797, 111315865], [111319686, 111319820], [111329320, 111329450], [111335397, 111335481], [111340067, 111340173], [111340293, 111340365], [111353784, 111353902], [111357867, 111357918], [111358216, 111358440]]
Promoter
Chrom Start End Description
chr13 111318062 111318077 CAGE_peak_9_at_CARS2_5end
chr13 111318087 111318105 CAGE_peak_5_at_CARS2_5end
chr13 111358396 111358407 CAGE_peak_3_at_CARS2_5end
chr13 111358426 111358487 CAGE_peak_1_at_CARS2_5end
chr13 111358488 111358493 CAGE_peak_2_at_CARS2_5end
chr13 111358509 111358512 CAGE_peak_4_at_CARS2_5end
chr13 111364773 111364818 CAGE_peak_7_at_CARS2_5end
chr13 111365855 111365882 CAGE_peak_8_at_CARS2_5end
chr13 111365924 111365953 CAGE_peak_16_at_CARS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I111164 111164341 111169027 1.1 [{'connected_gene': 'ARHGEF7', 'score': 19.97}, {'connected_gene': 'ARHGEF7-AS2', 'score': 11.08}, {'connected_gene': 'CARS2', 'score': 4.86}, {'connected_gene': 'ING1', 'score': 3.07}, {'connected_gene': 'ANKRD10', 'score': 1.71}, {'connected_gene': 'LOC101060553', 'score': 0.39}, {'connected_gene': 'SALL4P4', 'score': 0.37}]
chr13 GH13I110657 110657291 110659000 1.09 [{'connected_gene': 'CARS2', 'score': 39.94}, {'connected_gene': 'NAXD', 'score': 33.79}, {'connected_gene': 'ING1', 'score': 11.96}, {'connected_gene': 'ANKRD10', 'score': 10.72}, {'connected_gene': 'COL4A2-AS2', 'score': 10.56}, {'connected_gene': 'COL4A2', 'score': 10.53}, {'connected_gene': 'GC13P110640', 'score': 0.37}, {'connected_gene': 'GC13P110711', 'score': 0.23}, {'connected_gene': 'GC13P110574', 'score': 0.18}]
chr13 GH13I110650 110650403 110654774 0.38 [{'connected_gene': 'CARS2', 'score': 39.99}, {'connected_gene': 'NAXD', 'score': 32.89}, {'connected_gene': 'ING1', 'score': 11.8}, {'connected_gene': 'ANKRD10', 'score': 10.36}, {'connected_gene': 'GC13P110640', 'score': 0.39}, {'connected_gene': 'GC13P110711', 'score': 0.22}, {'connected_gene': 'GC13P110574', 'score': 0.18}]
chr13 GH13I110644 110644454 110645267 0.88 [{'connected_gene': 'CARS2', 'score': 36.4}, {'connected_gene': 'NAXD', 'score': 20.84}, {'connected_gene': 'ING1', 'score': 11.54}, {'connected_gene': 'ANKRD10', 'score': 10.65}, {'connected_gene': 'GC13P110640', 'score': 0.44}, {'connected_gene': 'GC13P110711', 'score': 0.2}, {'connected_gene': 'GC13P110574', 'score': 0.19}]
chr13 GH13I110679 110679995 110681418 0.49 [{'connected_gene': 'CARS2', 'score': 22.28}, {'connected_gene': 'NAXD', 'score': 14.38}, {'connected_gene': 'GC13P110711', 'score': 0.29}, {'connected_gene': 'GC13P110640', 'score': 0.26}, {'connected_gene': 'GC13P110574', 'score': 0.14}]
chr13 GH13I110699 110699243 110700000 0.78 [{'connected_gene': 'CARS2', 'score': 10.62}, {'connected_gene': 'ANKRD10', 'score': 10.56}, {'connected_gene': 'GC13P110711', 'score': 0.39}, {'connected_gene': 'GC13P110640', 'score': 0.21}, {'connected_gene': 'GC13P110574', 'score': 0.13}]
chr13 GH13I110798 110798136 110800869 0.76 [{'connected_gene': 'CARS2', 'score': 11.0}, {'connected_gene': 'ING1', 'score': 11.0}, {'connected_gene': 'NAXD', 'score': 10.34}, {'connected_gene': 'LINC00431', 'score': 5.77}, {'connected_gene': 'LINC00567', 'score': 0.39}, {'connected_gene': 'RPL21P107', 'score': 0.28}]
chr13 GH13I110675 110675638 110677595 1.12 [{'connected_gene': 'CARS2', 'score': 30.78}, {'connected_gene': 'ING1', 'score': 11.76}, {'connected_gene': 'NAXD', 'score': 9.65}, {'connected_gene': 'GC13P110711', 'score': 0.28}, {'connected_gene': 'GC13P110640', 'score': 0.28}, {'connected_gene': 'GC13P110574', 'score': 0.15}]
chr13 GH13I110755 110755994 110756776 0.6 [{'connected_gene': 'CARS2', 'score': 11.36}, {'connected_gene': 'ING1', 'score': 11.36}, {'connected_gene': 'GC13M110763', 'score': 0.44}, {'connected_gene': 'PIR46428', 'score': 0.26}]
chr13 GH13I110723 110723110 110723384 0.2 [{'connected_gene': 'CARS2', 'score': 14.41}, {'connected_gene': 'PIR46428', 'score': 0.44}, {'connected_gene': 'ING1', 'score': 0.39}, {'connected_gene': 'GC13M110763', 'score': 0.28}]
chr13 GH13I110717 110717730 110718388 0.62 [{'connected_gene': 'CARS2', 'score': 8.59}, {'connected_gene': 'PIR46428', 'score': 0.77}, {'connected_gene': 'ING1', 'score': 0.44}, {'connected_gene': 'GC13M110763', 'score': 0.25}]
chr13 GH13I110300 110300355 110303600 0.71 [{'connected_gene': 'CARS2', 'score': 4.71}, {'connected_gene': 'COL4A2', 'score': 0.77}, {'connected_gene': 'COL4A1', 'score': 0.44}, {'connected_gene': 'ENSG00000279237', 'score': 0.28}]
chr13 GH13I110710 110710963 110717401 2.31 [{'connected_gene': 'CARS2', 'score': 587.67}, {'connected_gene': 'PIR46428', 'score': 550.77}, {'connected_gene': 'LOC105376684', 'score': 550.77}, {'connected_gene': 'ING1', 'score': 550.77}, {'connected_gene': 'ANKRD10-IT1', 'score': 20.0}, {'connected_gene': 'NAXD', 'score': 10.73}, {'connected_gene': 'ANKRD10', 'score': 10.6}, {'connected_gene': 'GC13P110711', 'score': 0.77}]
chr13 GH13I110700 110700714 110701128 0.4 [{'connected_gene': 'CARS2', 'score': 18.24}, {'connected_gene': 'GC13P110711', 'score': 0.39}, {'connected_gene': 'GC13P110640', 'score': 0.21}, {'connected_gene': 'GC13P110574', 'score': 0.13}]
chr13 GH13I110727 110727544 110728079 0.43 [{'connected_gene': 'CARS2', 'score': 12.57}, {'connected_gene': 'PIR46428', 'score': 0.39}, {'connected_gene': 'GC13M110763', 'score': 0.28}]
chr13 GH13I110726 110726295 110727241 0.79 [{'connected_gene': 'CARS2', 'score': 16.19}, {'connected_gene': 'PIR46428', 'score': 0.39}, {'connected_gene': 'GC13M110763', 'score': 0.28}]
chr13 GH13I110702 110702480 110706950 2.41 [{'connected_gene': 'CARS2', 'score': 577.2}, {'connected_gene': 'GC13P110711', 'score': 0.44}, {'connected_gene': 'GC13P110640', 'score': 0.2}, {'connected_gene': 'GC13P110574', 'score': 0.13}]
chr13 GH13I110688 110688806 110689795 0.31 [{'connected_gene': 'NAXD', 'score': 13.8}, {'connected_gene': 'CARS2', 'score': 13.02}, {'connected_gene': 'ING1', 'score': 13.02}, {'connected_gene': 'ANKRD10', 'score': 10.87}, {'connected_gene': 'GC13P110711', 'score': 0.34}, {'connected_gene': 'GC13P110640', 'score': 0.23}, {'connected_gene': 'GC13P110574', 'score': 0.14}]
chr13 GH13I110660 110660560 110660739 0.22 [{'connected_gene': 'NAXD', 'score': 18.74}, {'connected_gene': 'CARS2', 'score': 11.96}, {'connected_gene': 'ING1', 'score': 11.96}, {'connected_gene': 'COL4A2-AS2', 'score': 10.56}, {'connected_gene': 'COL4A2', 'score': 10.53}, {'connected_gene': 'ANKRD10', 'score': 9.86}, {'connected_gene': 'GC13P110640', 'score': 0.34}, {'connected_gene': 'GC13P110711', 'score': 0.23}, {'connected_gene': 'GC13P110574', 'score': 0.17}]
chr13 GH13I110683 110683021 110686015 0.94 [{'connected_gene': 'NAXD', 'score': 14.88}, {'connected_gene': 'GC13P110711', 'score': 0.31}, {'connected_gene': 'CARS2', 'score': 0.31}, {'connected_gene': 'GC13P110640', 'score': 0.25}, {'connected_gene': 'GC13P110574', 'score': 0.14}]
chr13 GH13I110663 110663601 110666945 0.71 [{'connected_gene': 'NAXD', 'score': 22.37}, {'connected_gene': 'CARS2', 'score': 22.21}, {'connected_gene': 'GC13P110640', 'score': 0.31}, {'connected_gene': 'GC13P110711', 'score': 0.25}, {'connected_gene': 'GC13P110574', 'score': 0.16}]
chr13 GH13I110598 110598889 110602932 0.85 [{'connected_gene': 'NAXD', 'score': 11.37}, {'connected_gene': 'CARS2', 'score': 8.04}, {'connected_gene': 'GC13P110574', 'score': 0.31}]
chr13 GH13I110627 110627627 110629573 0.74 [{'connected_gene': 'NAXD', 'score': 35.53}, {'connected_gene': 'RAB20', 'score': 10.43}, {'connected_gene': 'ANKRD10', 'score': 9.39}, {'connected_gene': 'CARS2', 'score': 9.01}, {'connected_gene': 'ENSG00000275880', 'score': 0.39}, {'connected_gene': 'PIR49447', 'score': 0.39}, {'connected_gene': 'GC13P110574', 'score': 0.23}]
chr13 GH13I110609 110609995 110611680 0.74 [{'connected_gene': 'NAXD', 'score': 16.17}, {'connected_gene': 'RAB20', 'score': 10.69}, {'connected_gene': 'ANKRD10', 'score': 9.76}, {'connected_gene': 'CARS2', 'score': 8.0}, {'connected_gene': 'GC13P110574', 'score': 0.28}]
chr13 GH13I110697 110697914 110698063 0.4 [{'connected_gene': 'NAXD', 'score': 10.61}, {'connected_gene': 'ANKRD10', 'score': 10.56}, {'connected_gene': 'GC13P110711', 'score': 0.39}, {'connected_gene': 'CARS2', 'score': 0.37}, {'connected_gene': 'GC13P110640', 'score': 0.22}, {'connected_gene': 'GC13P110574', 'score': 0.13}]
chr13 GH13I110607 110607874 110608023 0.43 [{'connected_gene': 'ANKRD10', 'score': 9.76}, {'connected_gene': 'CARS2', 'score': 7.15}, {'connected_gene': 'NAXD', 'score': 0.44}, {'connected_gene': 'GC13P110574', 'score': 0.29}]
chr13 GH13I110873 110873791 110875463 1.36 [{'connected_gene': 'ANKRD10', 'score': 18.85}, {'connected_gene': 'CARS2', 'score': 9.98}, {'connected_gene': 'ING1', 'score': 9.98}, {'connected_gene': 'NAXD', 'score': 9.88}, {'connected_gene': 'RAB20', 'score': 7.44}, {'connected_gene': 'ANKRD10-IT1', 'score': 7.03}, {'connected_gene': 'LINC00346', 'score': 5.54}, {'connected_gene': 'GC13M110864', 'score': 0.77}, {'connected_gene': 'GC13P110892', 'score': 0.37}]
chr13 GH13I110876 110876714 110876863 0.38 [{'connected_gene': 'ANKRD10', 'score': 11.37}, {'connected_gene': 'CARS2', 'score': 9.98}, {'connected_gene': 'ING1', 'score': 9.98}, {'connected_gene': 'GC13M110864', 'score': 0.44}, {'connected_gene': 'GC13P110892', 'score': 0.37}]
chr13 GH13I110868 110868605 110872647 1.57 [{'connected_gene': 'LINC00346', 'score': 559.73}, {'connected_gene': 'GC13M110864', 'score': 550.77}, {'connected_gene': 'ANKRD10-IT1', 'score': 16.64}, {'connected_gene': 'CARS2', 'score': 14.23}, {'connected_gene': 'NAXD', 'score': 10.94}, {'connected_gene': 'GC13P110892', 'score': 0.34}]
chr13 GH13I110963 110963199 110968483 1.51 [{'connected_gene': 'LINC00431', 'score': 550.77}, {'connected_gene': 'NAXD', 'score': 71.46}, {'connected_gene': 'ANKRD10', 'score': 36.79}, {'connected_gene': 'ANKRD10-IT1', 'score': 34.07}, {'connected_gene': 'CARS2', 'score': 12.18}, {'connected_gene': 'LINC00346', 'score': 9.72}, {'connected_gene': 'ARHGEF7', 'score': 5.11}, {'connected_gene': 'LOC105370364', 'score': 0.44}]
chr13 GH13I110640 110640555 110641792 0.76 [{'connected_gene': 'GC13P110640', 'score': 550.77}, {'connected_gene': 'NAXD', 'score': 40.06}, {'connected_gene': 'CARS2', 'score': 12.1}, {'connected_gene': 'ING1', 'score': 12.1}, {'connected_gene': 'ANKRD10', 'score': 10.65}, {'connected_gene': 'COL4A2-AS2', 'score': 10.59}, {'connected_gene': 'COL4A2', 'score': 10.54}, {'connected_gene': 'GC13P110574', 'score': 0.2}, {'connected_gene': 'GC13P110711', 'score': 0.19}]
chr13 GH13I110636 110636591 110638677 0.56 [{'connected_gene': 'PIR49447', 'score': 550.77}, {'connected_gene': 'GC13P110640', 'score': 550.77}, {'connected_gene': 'NAXD', 'score': 47.91}, {'connected_gene': 'RAB20', 'score': 10.66}, {'connected_gene': 'CARS2', 'score': 5.57}, {'connected_gene': 'ENSG00000275880', 'score': 0.34}, {'connected_gene': 'GC13P110574', 'score': 0.21}]

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