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
ENST00000348367 [[113909623, 113913424], [113914386, 113914445], [113915621, 113915811], [113917006, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941571], [113942551, 113942649], [113943450, 113943521]] [[113913307, 113913424], [113914386, 113914445], [113915621, 113915811], [113917006, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941542]]
ENST00000423155 [[113909636, 113913424], [113914386, 113914445], [113915621, 113915811], [113917006, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941571], [113942551, 113942645], [113943450, 113943525]] [[113913307, 113913424], [113914386, 113914445], [113915621, 113915811], [113917006, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941542]]
ENST00000369425 [[113913627, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941571], [113942551, 113942649], [113943431, 113943468]] [[113916994, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941542]]
ENST00000480130 [[113940278, 113940353], [113941440, 113941571], [113942551, 113942649], [113974925, 113975135]] None
ENST00000498541 [[113940309, 113940353], [113941440, 113941571], [113942551, 113942649], [113974076, 113974154]] None
NM_001244949 [[113909621, 113913424], [113914386, 113914445], [113915621, 113915811], [113917006, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941571], [113942551, 113942649], [113943450, 113943537]] [[113913307, 113913424], [113914386, 113914445], [113915621, 113915811], [113917006, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941542]]
NM_020918 [[113909621, 113913424], [113914386, 113914445], [113915621, 113915811], [113917006, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941571], [113942551, 113942645], [113943450, 113943537]] [[113913307, 113913424], [113914386, 113914445], [113915621, 113915811], [113917006, 113917147], [113918073, 113918151], [113919668, 113919811], [113920361, 113920626], [113921424, 113921495], [113923458, 113923574], [113924282, 113924368], [113926159, 113926273], [113928069, 113928282], [113928610, 113928710], [113931939, 113932076], [113932727, 113932824], [113933456, 113933603], [113935357, 113935471], [113937741, 113937815], [113940230, 113940353], [113941440, 113941542]]
Promoter
Chrom Start End Description
chr10 113943447 113943536 CAGE_peak_1_at_GPAM_5end
chr10 113974353 113974364 CAGE_peak_7_at_GPAM_5end
chr10 113974375 113974389 CAGE_peak_8_at_GPAM_5end
chr10 113975111 113975114 CAGE_peak_6_at_GPAM_5end
chr10 113975134 113975163 CAGE_peak_2_at_GPAM_5end
chr10 113975173 113975180 CAGE_peak_3_at_GPAM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I112264 112264377 112266724 1.06 [{'connected_gene': 'TECTB', 'score': 7.94}, {'connected_gene': 'GPAM', 'score': 5.43}, {'connected_gene': 'LOC101927600', 'score': 0.28}, {'connected_gene': 'GC10M112255', 'score': 0.05}]
chr10 GH10I112242 112242280 112245472 0.65 [{'connected_gene': 'TECTB', 'score': 23.98}, {'connected_gene': 'GPAM', 'score': 5.58}, {'connected_gene': 'LOC101927600', 'score': 0.37}]
chr10 GH10I112259 112259959 112262542 1.17 [{'connected_gene': 'TECTB', 'score': 24.8}, {'connected_gene': 'GPAM', 'score': 4.36}, {'connected_gene': 'LOC101927600', 'score': 0.29}, {'connected_gene': 'GC10M112255', 'score': 0.05}]
chr10 GH10I112274 112274901 112276532 1.37 [{'connected_gene': 'TECTB', 'score': 8.01}, {'connected_gene': 'GPAM', 'score': 4.53}, {'connected_gene': 'LOC101927600', 'score': 0.25}, {'connected_gene': 'GC10M112255', 'score': 0.05}]
chr10 GH10I112626 112626076 112626083 0.22 [{'connected_gene': 'TECTB', 'score': 1.79}, {'connected_gene': 'GPAM', 'score': 1.48}, {'connected_gene': 'MIR4295', 'score': 0.44}, {'connected_gene': 'GC10M112255', 'score': 0.34}, {'connected_gene': 'VTI1A', 'score': 0.1}]
chr10 GH10I112182 112182534 112185130 2.21 [{'connected_gene': 'GPAM', 'score': 550.29}, {'connected_gene': 'TECTB', 'score': 9.86}, {'connected_gene': 'LOC105378486', 'score': 0.15}]
chr10 GH10I112222 112222688 112225745 1.01 [{'connected_gene': 'GPAM', 'score': 8.41}, {'connected_gene': 'TECTB', 'score': 5.44}, {'connected_gene': 'LOC101927600', 'score': 0.77}]
chr10 GH10I112208 112208363 112208512 0.4 [{'connected_gene': 'GPAM', 'score': 0.44}, {'connected_gene': 'LOC105378486', 'score': 0.13}]
chr10 GH10I112172 112172803 112174035 0.4 [{'connected_gene': 'GPAM', 'score': 0.26}, {'connected_gene': 'LOC105378486', 'score': 0.16}]
chr10 GH10I112165 112165816 112169315 0.38 [{'connected_gene': 'GPAM', 'score': 0.25}, {'connected_gene': 'LOC105378486', 'score': 0.18}]
chr10 GH10I112159 112159245 112160427 0.76 [{'connected_gene': 'GPAM', 'score': 0.22}, {'connected_gene': 'LOC105378486', 'score': 0.18}]
chr10 GH10I112190 112190686 112192171 0.4 [{'connected_gene': 'GPAM', 'score': 0.34}, {'connected_gene': 'LOC105378486', 'score': 0.14}]
chr10 GH10I112174 112174294 112178369 0.97 [{'connected_gene': 'GPAM', 'score': 0.28}, {'connected_gene': 'LOC105378486', 'score': 0.16}]
chr10 GH10I112163 112163805 112165235 0.2 [{'connected_gene': 'GPAM', 'score': 0.23}, {'connected_gene': 'LOC105378486', 'score': 0.18}]
chr10 GH10I112178 112178436 112181184 0.2 [{'connected_gene': 'GPAM', 'score': 0.28}, {'connected_gene': 'LOC105378486', 'score': 0.15}]
chr10 GH10I112211 112211112 112212057 0.38 [{'connected_gene': 'GPAM', 'score': 0.77}, {'connected_gene': 'LOC105378486', 'score': 0.13}]
chr10 GH10I112161 112161299 112162569 0.2 [{'connected_gene': 'GPAM', 'score': 0.23}, {'connected_gene': 'LOC105378486', 'score': 0.18}]
chr10 GH10I112214 112214149 112215968 0.92 [{'connected_gene': 'GPAM', 'score': 550.77}, {'connected_gene': 'LOC105378486', 'score': 0.12}]
chr10 GH10I112153 112153963 112155393 0.2 [{'connected_gene': 'GPAM', 'score': 0.21}, {'connected_gene': 'LOC105378486', 'score': 0.19}]
chr10 GH10I112147 112147543 112149237 0.58 [{'connected_gene': 'GPAM', 'score': 0.2}, {'connected_gene': 'LOC105378486', 'score': 0.2}]
chr10 GH10I112200 112200164 112204991 0.67 [{'connected_gene': 'GPAM', 'score': 0.39}, {'connected_gene': 'LOC105378486', 'score': 0.13}]
chr10 GH10I112209 112208689 112209965 0.83 [{'connected_gene': 'GPAM', 'score': 0.44}, {'connected_gene': 'LOC105378486', 'score': 0.13}]
chr10 GH10I112149 112149915 112153666 0.2 [{'connected_gene': 'GPAM', 'score': 0.21}, {'connected_gene': 'LOC105378486', 'score': 0.2}]
chr10 GH10I112217 112217198 112218774 0.52 [{'connected_gene': 'GPAM', 'score': 0.77}, {'connected_gene': 'LOC101927600', 'score': 0.44}]
chr10 GH10I112131 112131044 112132682 0.38 [{'connected_gene': 'LOC105378486', 'score': 0.25}, {'connected_gene': 'GPAM', 'score': 0.18}]
chr10 GH10I112145 112145428 112146829 0.31 [{'connected_gene': 'LOC105378486', 'score': 0.21}, {'connected_gene': 'GPAM', 'score': 0.2}]
chr10 GH10I112095 112095853 112096135 0.45 [{'connected_gene': 'LOC105378486', 'score': 0.39}, {'connected_gene': 'GPAM', 'score': 0.13}]
chr10 GH10I112132 112132756 112132791 0.22 [{'connected_gene': 'LOC105378486', 'score': 0.25}, {'connected_gene': 'GPAM', 'score': 0.18}]
chr10 GH10I112092 112092611 112092883 0.58 [{'connected_gene': 'LOC105378486', 'score': 0.44}, {'connected_gene': 'GPAM', 'score': 0.13}]
chr10 GH10I112124 112124473 112126091 0.38 [{'connected_gene': 'LOC105378486', 'score': 0.26}, {'connected_gene': 'GPAM', 'score': 0.16}]
chr10 GH10I112137 112137483 112137652 0.63 [{'connected_gene': 'LOC105378486', 'score': 0.23}, {'connected_gene': 'GPAM', 'score': 0.18}]
chr10 GH10I112140 112140243 112140412 0.94 [{'connected_gene': 'LOC105378486', 'score': 0.22}, {'connected_gene': 'GPAM', 'score': 0.18}]

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