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
ENST00000360473 [[50589389, 50590207], [50592958, 50593056], [50594349, 50595056]] [[50589629, 50590207], [50592958, 50593056], [50594349, 50594363]]
ENST00000312942 [[50589389, 50590207], [50594349, 50595058]] [[50589629, 50590207], [50594349, 50594590]]
NM_173605 [[50589389, 50590207], [50594349, 50595058]] [[50589629, 50590207], [50594349, 50594590]]
NM_199464 [[50589389, 50590207], [50592958, 50593056], [50594349, 50595058]] [[50589629, 50590207], [50592958, 50593056], [50594349, 50594363]]
Promoter
Chrom Start End Description
chr13 50589538 50589543 CAGE_peak_3_at_KCNRG_5end
chr13 50589574 50589585 CAGE_peak_1_at_KCNRG_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I049689 49689666 49694057 1.99 [{'connected_gene': 'EBPL', 'score': 581.38}, {'connected_gene': 'SETDB2', 'score': 15.5}, {'connected_gene': 'TRIM13', 'score': 12.89}, {'connected_gene': 'KCNRG', 'score': 11.54}, {'connected_gene': 'RCBTB1', 'score': 4.68}, {'connected_gene': 'GC13P049698', 'score': 0.44}]
chr13 GH13I050395 50395901 50396594 0.43 [{'connected_gene': 'SETDB2', 'score': 15.46}, {'connected_gene': 'TRIM13', 'score': 12.88}, {'connected_gene': 'SERPINE3', 'score': 12.2}, {'connected_gene': 'RPL34P26', 'score': 11.87}, {'connected_gene': 'KCNRG', 'score': 11.53}, {'connected_gene': 'GC13P050401', 'score': 0.77}, {'connected_gene': 'GC13P050390', 'score': 0.44}, {'connected_gene': 'DLEU1', 'score': 0.06}]
chr13 GH13I050115 50115335 50115839 0.38 [{'connected_gene': 'SETDB2', 'score': 15.46}, {'connected_gene': 'TRIM13', 'score': 12.96}, {'connected_gene': 'DLEU1', 'score': 12.37}, {'connected_gene': 'KCNRG', 'score': 11.63}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.89}, {'connected_gene': 'RNASEH2B', 'score': 10.89}, {'connected_gene': 'KPNA3', 'score': 9.26}, {'connected_gene': 'ENSG00000273541', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.39}]
chr13 GH13I050897 50897823 50898699 0.38 [{'connected_gene': 'RNASEH2B', 'score': 24.15}, {'connected_gene': 'DLEU7', 'score': 10.87}, {'connected_gene': 'DLEU7-AS1', 'score': 10.3}, {'connected_gene': 'KCNRG', 'score': 9.36}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.39}, {'connected_gene': 'GC13P050857', 'score': 0.26}]
chr13 GH13I050908 50908109 50918118 2.69 [{'connected_gene': 'RNASEH2B', 'score': 617.54}, {'connected_gene': 'RNASEH2B-AS1', 'score': 27.57}, {'connected_gene': 'DLEU7-AS1', 'score': 10.78}, {'connected_gene': 'DLEU7', 'score': 10.69}, {'connected_gene': 'KCNRG', 'score': 10.44}, {'connected_gene': 'SERPINE3', 'score': 10.23}, {'connected_gene': 'TRIM13', 'score': 10.11}, {'connected_gene': 'RPS4XP16', 'score': 9.93}, {'connected_gene': 'INTS6', 'score': 4.74}, {'connected_gene': 'GC13M050919', 'score': 0.39}]
chr13 GH13I049960 49960260 49960532 0.26 [{'connected_gene': 'SPRYD7', 'score': 11.8}, {'connected_gene': 'KCNRG', 'score': 11.53}, {'connected_gene': 'KPNA3', 'score': 9.34}, {'connected_gene': 'GC13P049955', 'score': 0.44}, {'connected_gene': 'GC13P049980', 'score': 0.37}]
chr13 GH13I049934 49934830 49940676 2.25 [{'connected_gene': 'SPRYD7', 'score': 550.22}, {'connected_gene': 'TRIM13', 'score': 25.97}, {'connected_gene': 'KCNRG', 'score': 15.58}, {'connected_gene': 'SETDB2', 'score': 13.34}, {'connected_gene': 'EBPL', 'score': 9.84}, {'connected_gene': 'DLEU1', 'score': 7.65}, {'connected_gene': 'CTAGE10P', 'score': 6.9}, {'connected_gene': 'GC13P049951', 'score': 0.39}, {'connected_gene': 'GC13M049909', 'score': 0.31}, {'connected_gene': 'RNY4P9', 'score': 0.31}]
chr13 GH13I049494 49494389 49500998 2.39 [{'connected_gene': 'PHF11', 'score': 564.24}, {'connected_gene': 'SETDB2', 'score': 27.92}, {'connected_gene': 'TRIM13', 'score': 12.87}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'EBPL', 'score': 10.61}, {'connected_gene': 'ARL11', 'score': 5.5}, {'connected_gene': 'RCBTB1', 'score': 0.17}, {'connected_gene': 'GC13P049390', 'score': 0.14}]
chr13 GH13I050026 50026794 50027583 0.77 [{'connected_gene': 'MIR16-1', 'score': 12.03}, {'connected_gene': 'CAB39L', 'score': 4.24}, {'connected_gene': 'GC13M050020', 'score': 0.44}, {'connected_gene': 'KCNRG', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.15}]
chr13 GH13I050023 50023340 50023674 0.31 [{'connected_gene': 'MIR16-1', 'score': 12.01}, {'connected_gene': 'TRIM13', 'score': 1.65}, {'connected_gene': 'RCBTB1', 'score': 1.24}, {'connected_gene': 'KCNRG', 'score': 0.44}, {'connected_gene': 'GC13M050020', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.15}]
chr13 GH13I049219 49219711 49221452 1.41 [{'connected_gene': 'MLNR', 'score': 550.77}, {'connected_gene': 'SETDB2', 'score': 15.51}, {'connected_gene': 'TRIM13', 'score': 12.86}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'PPP1R26P1', 'score': 10.66}, {'connected_gene': 'FNDC3A', 'score': 4.94}, {'connected_gene': 'THAP12P10', 'score': 0.39}, {'connected_gene': 'LOC105370203', 'score': 0.31}]
chr13 GH13I050016 50016545 50016554 0.46 [{'connected_gene': 'KCNRG', 'score': 550.77}, {'connected_gene': 'MIR16-1', 'score': 11.65}, {'connected_gene': 'GC13M050020', 'score': 0.37}, {'connected_gene': 'TRIM13', 'score': 0.34}, {'connected_gene': 'DLEU2', 'score': 0.14}]
chr13 GH13I050017 50015302 50016094 0.79 [{'connected_gene': 'KCNRG', 'score': 550.77}, {'connected_gene': 'MIR16-1', 'score': 11.65}, {'connected_gene': 'TRIM13', 'score': 0.37}, {'connected_gene': 'GC13M050020', 'score': 0.37}, {'connected_gene': 'DLEU2', 'score': 0.14}]
chr13 GH13I050521 50521305 50522314 1.08 [{'connected_gene': 'KCNRG', 'score': 10.54}, {'connected_gene': 'DLEU7', 'score': 10.15}, {'connected_gene': 'DLEU7-AS1', 'score': 10.03}, {'connected_gene': 'RPL34P26', 'score': 9.92}, {'connected_gene': 'DLEU1-AS1', 'score': 0.44}, {'connected_gene': 'GC13P050502', 'score': 0.37}, {'connected_gene': 'DLEU1', 'score': 0.05}]
chr13 GH13I050051 50051775 50057026 0.57 [{'connected_gene': 'KCNRG', 'score': 12.81}, {'connected_gene': 'DLEU1', 'score': 11.83}, {'connected_gene': 'EBPL', 'score': 8.5}, {'connected_gene': 'TRIM13', 'score': 4.47}, {'connected_gene': 'RNASEH2B', 'score': 4.23}, {'connected_gene': 'GC13M050053', 'score': 0.77}, {'connected_gene': 'ENSG00000273612', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.19}]
chr13 GH13I050072 50072801 50073800 0.58 [{'connected_gene': 'KCNRG', 'score': 10.86}, {'connected_gene': 'GC13P050070', 'score': 0.77}, {'connected_gene': 'ENSG00000277752', 'score': 0.77}, {'connected_gene': 'DLEU2', 'score': 0.23}]
chr13 GH13I050058 50058356 50059727 0.2 [{'connected_gene': 'KCNRG', 'score': 12.79}, {'connected_gene': 'GC13M050053', 'score': 0.44}, {'connected_gene': 'ENSG00000273612', 'score': 0.44}, {'connected_gene': 'DLEU2', 'score': 0.2}]
chr13 GH13I050071 50071401 50071800 0.58 [{'connected_gene': 'KCNRG', 'score': 10.86}, {'connected_gene': 'GC13P050070', 'score': 0.77}, {'connected_gene': 'ENSG00000277752', 'score': 0.77}, {'connected_gene': 'DLEU2', 'score': 0.23}]
chr13 GH13I050060 50060118 50061423 0.49 [{'connected_gene': 'KCNRG', 'score': 12.78}, {'connected_gene': 'ENSG00000273612', 'score': 0.44}, {'connected_gene': 'GC13M050053', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.21}]
chr13 GH13I050015 50015121 50015180 0.61 [{'connected_gene': 'KCNRG', 'score': 550.77}, {'connected_gene': 'TRIM13', 'score': 0.37}, {'connected_gene': 'MIR3613', 'score': 0.37}, {'connected_gene': 'DLEU2', 'score': 0.14}]
chr13 GH13I050918 50918601 50919000 0.4 [{'connected_gene': 'KCNRG', 'score': 10.61}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.44}, {'connected_gene': 'GC13M050919', 'score': 0.44}]
chr13 GH13I050919 50919401 50919800 0.58 [{'connected_gene': 'KCNRG', 'score': 10.61}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.44}, {'connected_gene': 'GC13M050919', 'score': 0.44}]
chr13 GH13I050920 50920001 50920400 0.4 [{'connected_gene': 'KCNRG', 'score': 10.61}, {'connected_gene': 'RNASEH2B-AS1', 'score': 0.44}, {'connected_gene': 'GC13M050919', 'score': 0.44}, {'connected_gene': 'RNASEH2B', 'score': 0.39}]
chr13 GH13I050121 50121689 50131823 2.28 [{'connected_gene': 'DLEU2', 'score': 555.7}, {'connected_gene': 'ENSG00000274270', 'score': 550.77}, {'connected_gene': 'SETDB2', 'score': 51.06}, {'connected_gene': 'TRIM13', 'score': 34.63}, {'connected_gene': 'KCNRG', 'score': 26.25}, {'connected_gene': 'DLEU1', 'score': 25.23}, {'connected_gene': 'RNASEH2B-AS1', 'score': 23.01}, {'connected_gene': 'CTAGE10P', 'score': 13.18}, {'connected_gene': 'RNASEH2B', 'score': 11.42}, {'connected_gene': 'EBPL', 'score': 9.37}, {'connected_gene': 'ARL11', 'score': 1.93}, {'connected_gene': 'ST13P4', 'score': 0.25}]
chr13 GH13I050111 50111060 50113155 0.38 [{'connected_gene': 'DLEU1', 'score': 12.57}, {'connected_gene': 'KCNRG', 'score': 11.52}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.89}, {'connected_gene': 'RNASEH2B', 'score': 10.89}, {'connected_gene': 'DLEU7-AS1', 'score': 10.23}, {'connected_gene': 'DLEU7', 'score': 9.7}, {'connected_gene': 'KPNA3', 'score': 9.26}, {'connected_gene': 'EBPL', 'score': 8.4}, {'connected_gene': 'ENSG00000273541', 'score': 0.44}, {'connected_gene': 'DLEU2', 'score': 0.39}]
chr13 GH13I050105 50105791 50107931 0.92 [{'connected_gene': 'DLEU1', 'score': 12.6}, {'connected_gene': 'KCNRG', 'score': 11.52}, {'connected_gene': 'DLEU7-AS1', 'score': 10.23}, {'connected_gene': 'DLEU7', 'score': 9.71}, {'connected_gene': 'PHF11', 'score': 4.07}, {'connected_gene': 'ENSG00000273541', 'score': 0.77}, {'connected_gene': 'DLEU2', 'score': 0.37}]
chr13 GH13I050108 50108969 50110378 0.46 [{'connected_gene': 'DLEU1', 'score': 20.52}, {'connected_gene': 'KCNRG', 'score': 11.52}, {'connected_gene': 'DLEU7-AS1', 'score': 10.23}, {'connected_gene': 'DLEU7', 'score': 9.7}, {'connected_gene': 'ENSG00000273541', 'score': 0.77}, {'connected_gene': 'DLEU2', 'score': 0.37}]
chr13 GH13I050116 50116201 50116814 0.83 [{'connected_gene': 'DLEU1', 'score': 13.09}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.35}, {'connected_gene': 'RNASEH2B', 'score': 11.35}, {'connected_gene': 'KCNRG', 'score': 10.86}, {'connected_gene': 'DLEU2', 'score': 0.44}, {'connected_gene': 'ENSG00000273541', 'score': 0.39}]
chr13 GH13I050117 50117001 50117400 0.4 [{'connected_gene': 'DLEU1', 'score': 13.08}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.35}, {'connected_gene': 'RNASEH2B', 'score': 11.35}, {'connected_gene': 'KCNRG', 'score': 10.86}, {'connected_gene': 'DLEU2', 'score': 0.44}, {'connected_gene': 'ENSG00000273541', 'score': 0.39}]
chr13 GH13I050119 50119365 50120384 0.76 [{'connected_gene': 'DLEU1', 'score': 21.46}, {'connected_gene': 'RNASEH2B-AS1', 'score': 11.35}, {'connected_gene': 'RNASEH2B', 'score': 11.35}, {'connected_gene': 'KCNRG', 'score': 10.86}, {'connected_gene': 'DLEU2', 'score': 0.44}, {'connected_gene': 'ENSG00000273541', 'score': 0.37}]
chr13 GH13I049371 49371985 49372194 0.76 [{'connected_gene': 'TRIM13', 'score': 10.98}, {'connected_gene': 'SETDB2', 'score': 10.23}, {'connected_gene': 'KCNRG', 'score': 10.18}, {'connected_gene': 'GC13P049390', 'score': 0.37}, {'connected_gene': 'CAB39L', 'score': 0.19}, {'connected_gene': 'GC13P049296', 'score': 0.18}]
chr13 GH13I049995 49995318 49999686 2.01 [{'connected_gene': 'TRIM13', 'score': 560.54}, {'connected_gene': 'SPRYD7', 'score': 556.41}, {'connected_gene': 'MIR3613', 'score': 550.77}, {'connected_gene': 'DLEU1', 'score': 10.07}, {'connected_gene': 'EBPL', 'score': 8.41}, {'connected_gene': 'CTAGE10P', 'score': 5.97}, {'connected_gene': 'RNASEH2B', 'score': 4.09}, {'connected_gene': 'KCNRG', 'score': 0.37}, {'connected_gene': 'DLEU2', 'score': 0.13}]
chr13 GH13I050890 50890601 50895468 1.41 [{'connected_gene': 'RNASEH2B-AS1', 'score': 18.3}, {'connected_gene': 'RNASEH2B', 'score': 14.72}, {'connected_gene': 'DLEU7', 'score': 11.25}, {'connected_gene': 'DLEU7-AS1', 'score': 11.04}, {'connected_gene': 'KCNRG', 'score': 10.1}, {'connected_gene': 'GC13P050857', 'score': 0.28}]
chr13 GH13I050096 50096026 50102479 0.67 [{'connected_gene': 'RPL18P10', 'score': 550.77}, {'connected_gene': 'DLEU2', 'score': 16.88}, {'connected_gene': 'RNASEH2B-AS1', 'score': 12.03}, {'connected_gene': 'KCNRG', 'score': 10.52}, {'connected_gene': 'EBPL', 'score': 8.34}, {'connected_gene': 'CTAGE10P', 'score': 6.01}, {'connected_gene': 'DLEU1', 'score': 0.37}, {'connected_gene': 'GC13P050084', 'score': 0.37}]
chr13 GH13I050542 50542968 50544844 0.66 [{'connected_gene': 'RPL34P26', 'score': 10.86}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.22}, {'connected_gene': 'RNASEH2B', 'score': 10.22}, {'connected_gene': 'KCNRG', 'score': 10.1}, {'connected_gene': 'DLEU7-AS1', 'score': 10.05}, {'connected_gene': 'GC13P050529', 'score': 0.37}, {'connected_gene': 'GC13P050590', 'score': 0.25}, {'connected_gene': 'DLEU1', 'score': 0.04}]
chr13 GH13I049981 49981571 49981725 0.22 [{'connected_gene': 'GC13P049980', 'score': 550.77}, {'connected_gene': 'KCNRG', 'score': 11.34}, {'connected_gene': 'SPRYD7', 'score': 0.39}, {'connected_gene': 'TRIM13', 'score': 0.39}]
chr13 GH13I050069 50069801 50070200 0.4 [{'connected_gene': 'ENSG00000273612', 'score': 550.77}, {'connected_gene': 'GC13P050070', 'score': 550.77}, {'connected_gene': 'KCNRG', 'score': 12.19}, {'connected_gene': 'ENSG00000277752', 'score': 0.44}, {'connected_gene': 'DLEU2', 'score': 0.22}]
chr13 GH13I050074 50074801 50075200 0.82 [{'connected_gene': 'ENSG00000277752', 'score': 550.77}, {'connected_gene': 'KCNRG', 'score': 10.86}, {'connected_gene': 'GC13P050070', 'score': 0.44}, {'connected_gene': 'DLEU2', 'score': 0.23}]
chr13 GH13I050526 50526224 50531228 1.31 [{'connected_gene': 'GC13P050529', 'score': 550.77}, {'connected_gene': 'DLEU1-AS1', 'score': 550.77}, {'connected_gene': 'GC13P050527', 'score': 550.77}, {'connected_gene': 'GC13P050528', 'score': 550.77}, {'connected_gene': 'RPL34P26', 'score': 10.98}, {'connected_gene': 'SERPINE3', 'score': 10.74}, {'connected_gene': 'KCNRG', 'score': 10.53}, {'connected_gene': 'RNASEH2B-AS1', 'score': 10.22}, {'connected_gene': 'RNASEH2B', 'score': 10.22}, {'connected_gene': 'DLEU7', 'score': 9.53}, {'connected_gene': 'EBPL', 'score': 4.29}, {'connected_gene': 'GC13P050590', 'score': 0.21}, {'connected_gene': 'DLEU1', 'score': 0.05}]
chr13 GH13I050075 50075404 50084477 1.77 [{'connected_gene': 'ENSG00000275559', 'score': 550.77}, {'connected_gene': 'TRIM13', 'score': 19.45}, {'connected_gene': 'SETDB2', 'score': 18.14}, {'connected_gene': 'CTAGE10P', 'score': 13.33}, {'connected_gene': 'DLEU1', 'score': 13.16}, {'connected_gene': 'KCNRG', 'score': 11.3}, {'connected_gene': 'EBPL', 'score': 10.69}, {'connected_gene': 'ENSG00000277752', 'score': 0.77}, {'connected_gene': 'GC13P050084', 'score': 0.77}, {'connected_gene': 'ENSG00000276089', 'score': 0.77}, {'connected_gene': 'GC13P050070', 'score': 0.39}, {'connected_gene': 'DLEU2', 'score': 0.25}]

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