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
ENST00000239367 [[150139933, 150141839], [150147399, 150147495], [150157220, 150157433], [150158473, 150158599], [150164118, 150164260], [150174138, 150174296], [150184543, 150185162]] [[150141684, 150141839], [150147399, 150147495], [150157220, 150157433], [150158473, 150158599], [150164118, 150164260], [150174138, 150174296], [150184543, 150185156]]
ENST00000546019 [[150141075, 150141839], [150147399, 150147495], [150157220, 150157433], [150158473, 150158599], [150164118, 150164260], [150174138, 150174296], [150186020, 150186199]] [[150141684, 150141839], [150147399, 150147495], [150157220, 150157433], [150158473, 150158599], [150164118, 150164260], [150174138, 150174144]]
ENST00000463728 [[150147246, 150147495], [150157220, 150157335]] None
ENST00000367368 [[150163689, 150163812], [150164118, 150164260], [150174138, 150174296], [150184543, 150185162]] [[150163747, 150163812], [150164118, 150164260], [150174138, 150174296], [150184543, 150185156]]
NM_032832 [[150139893, 150141839], [150147399, 150147495], [150157220, 150157433], [150158473, 150158599], [150164118, 150164260], [150174138, 150174296], [150184543, 150185480]] [[150141684, 150141839], [150147399, 150147495], [150157220, 150157433], [150158473, 150158599], [150164118, 150164260], [150174138, 150174296], [150184543, 150185156]]
Promoter
Chrom Start End Description
chr6 150174198 150174216 CAGE_peak_7_at_LRP11_5end
chr6 150185063 150185092 CAGE_peak_3_at_LRP11_5end
chr6 150185105 150185119 CAGE_peak_5_at_LRP11_5end
chr6 150185156 150185200 CAGE_peak_2_at_LRP11_5end
chr6 150185435 150185501 CAGE_peak_1_at_LRP11_5end
chr6 150185504 150185513 CAGE_peak_4_at_LRP11_5end
chr6 150185517 150185520 CAGE_peak_6_at_LRP11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I149231 149231265 149236040 1.64 [{'connected_gene': 'LATS1', 'score': 15.98}, {'connected_gene': 'ENSG00000268592', 'score': 15.92}, {'connected_gene': 'ENSG00000216906', 'score': 15.02}, {'connected_gene': 'LRP11', 'score': 11.31}, {'connected_gene': 'NUP43', 'score': 10.11}, {'connected_gene': 'ENSG00000233330', 'score': 9.73}, {'connected_gene': 'ENSG00000228408', 'score': 5.48}, {'connected_gene': 'ZC3H12D', 'score': 5.25}, {'connected_gene': 'GC06P149237', 'score': 0.77}, {'connected_gene': 'TAB2', 'score': 0.37}]
chr6 GH06I150409 150409366 150410139 0.75 [{'connected_gene': 'LATS1', 'score': 43.14}, {'connected_gene': 'RPS18P9', 'score': 35.92}, {'connected_gene': 'ENSG00000268592', 'score': 29.69}, {'connected_gene': 'ENSG00000216906', 'score': 28.83}, {'connected_gene': 'LRP11', 'score': 20.2}, {'connected_gene': 'ENSG00000202343', 'score': 19.78}, {'connected_gene': 'PPIL4', 'score': 13.77}, {'connected_gene': 'ENSG00000233330', 'score': 11.47}, {'connected_gene': 'AKAP12', 'score': 10.75}, {'connected_gene': 'NUP43', 'score': 9.99}, {'connected_gene': 'ZBTB2', 'score': 9.86}, {'connected_gene': 'SSR1P1', 'score': 0.34}, {'connected_gene': 'LOC100420304', 'score': 0.15}]
chr6 GH06I149248 149248601 149251200 1.3 [{'connected_gene': 'LATS1', 'score': 44.42}, {'connected_gene': 'NUP43', 'score': 39.26}, {'connected_gene': 'PPIL4', 'score': 30.84}, {'connected_gene': 'KATNA1', 'score': 22.82}, {'connected_gene': 'ENSG00000216906', 'score': 15.7}, {'connected_gene': 'ENSG00000268592', 'score': 15.67}, {'connected_gene': 'ENSG00000233330', 'score': 12.43}, {'connected_gene': 'RPS18P9', 'score': 11.85}, {'connected_gene': 'ENSG00000228408', 'score': 11.84}, {'connected_gene': 'ENSG00000231760', 'score': 11.46}, {'connected_gene': 'GINM1', 'score': 10.76}, {'connected_gene': 'LRP11', 'score': 10.62}, {'connected_gene': 'TAB2', 'score': 10.04}, {'connected_gene': 'ENSG00000283608', 'score': 0.77}, {'connected_gene': 'TAB2-AS1', 'score': 0.44}, {'connected_gene': 'GC06P149237', 'score': 0.39}]
chr6 GH06I149835 149835225 149835374 0.66 [{'connected_gene': 'LRP11', 'score': 12.95}, {'connected_gene': 'RAET1E', 'score': 12.26}, {'connected_gene': 'ENSG00000233330', 'score': 9.15}, {'connected_gene': 'ENSG00000202343', 'score': 9.15}, {'connected_gene': 'RPS18P9', 'score': 9.15}, {'connected_gene': 'ENSG00000231760', 'score': 0.44}, {'connected_gene': 'ENSG00000273132', 'score': 0.37}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149868 149868205 149869223 0.86 [{'connected_gene': 'LRP11', 'score': 0.77}, {'connected_gene': 'ENSG00000268592', 'score': 0.44}, {'connected_gene': 'RAET1E-AS1', 'score': 0.44}, {'connected_gene': 'CCT7P1', 'score': 0.39}, {'connected_gene': 'RAET1E', 'score': 0.31}]
chr6 GH06I149858 149858925 149865280 2.45 [{'connected_gene': 'LRP11', 'score': 556.23}, {'connected_gene': 'ENSG00000268592', 'score': 550.77}, {'connected_gene': 'RAET1E-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000216906', 'score': 32.14}, {'connected_gene': 'ENSG00000231760', 'score': 32.12}, {'connected_gene': 'RAET1E', 'score': 15.94}, {'connected_gene': 'LATS1', 'score': 11.75}, {'connected_gene': 'NUP43', 'score': 7.57}, {'connected_gene': 'ULBP1', 'score': 5.09}, {'connected_gene': 'ENSG00000273132', 'score': 0.44}]
chr6 GH06I149879 149879558 149879958 0.27 [{'connected_gene': 'CCT7P1', 'score': 550.77}, {'connected_gene': 'ENSG00000231760', 'score': 4.95}, {'connected_gene': 'ENSG00000268592', 'score': 0.37}, {'connected_gene': 'RAET1E-AS1', 'score': 0.37}, {'connected_gene': 'RAET1E', 'score': 0.37}, {'connected_gene': 'LRP11', 'score': 0.37}]
chr6 GH06I149894 149894809 149898422 1.67 [{'connected_gene': 'RAET1E', 'score': 567.21}, {'connected_gene': 'ENSG00000216906', 'score': 23.45}, {'connected_gene': 'LATS1', 'score': 17.2}, {'connected_gene': 'NUP43', 'score': 15.35}, {'connected_gene': 'PPIL4', 'score': 12.09}, {'connected_gene': 'KATNA1', 'score': 10.64}, {'connected_gene': 'LRP11', 'score': 6.68}, {'connected_gene': 'LOC105378051', 'score': 0.39}, {'connected_gene': 'ENSG00000268592', 'score': 0.29}, {'connected_gene': 'RAET1E-AS1', 'score': 0.29}]
chr6 GH06I149886 149886624 149891786 1.65 [{'connected_gene': 'RAET1E', 'score': 572.92}, {'connected_gene': 'ENSG00000216906', 'score': 25.74}, {'connected_gene': 'ENSG00000231760', 'score': 22.23}, {'connected_gene': 'LRP11', 'score': 11.72}, {'connected_gene': 'LOC105378051', 'score': 0.77}, {'connected_gene': 'ENSG00000268592', 'score': 0.31}, {'connected_gene': 'RAET1E-AS1', 'score': 0.31}]
chr6 GH06I149834 149834625 149834774 0.86 [{'connected_gene': 'RAET1E', 'score': 11.64}, {'connected_gene': 'ENSG00000231760', 'score': 0.44}, {'connected_gene': 'ENSG00000273132', 'score': 0.37}, {'connected_gene': 'LRP11', 'score': 0.31}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149842 149842005 149848426 1.37 [{'connected_gene': 'ENSG00000231760', 'score': 44.25}, {'connected_gene': 'LATS1', 'score': 32.95}, {'connected_gene': 'GINM1', 'score': 20.26}, {'connected_gene': 'RPS18P9', 'score': 19.04}, {'connected_gene': 'RAET1E', 'score': 18.01}, {'connected_gene': 'NUP43', 'score': 16.81}, {'connected_gene': 'ENSG00000268592', 'score': 16.26}, {'connected_gene': 'LRP11', 'score': 16.15}, {'connected_gene': 'ENSG00000216906', 'score': 15.21}, {'connected_gene': 'KATNA1', 'score': 14.98}, {'connected_gene': 'PPIL4', 'score': 12.41}, {'connected_gene': 'TAB2', 'score': 9.77}, {'connected_gene': 'ENSG00000233330', 'score': 9.09}, {'connected_gene': 'ENSG00000202343', 'score': 9.09}, {'connected_gene': 'ENSG00000273132', 'score': 0.44}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I150592 150592025 150593025 0.79 [{'connected_gene': 'ENSG00000216906', 'score': 15.7}, {'connected_gene': 'ENSG00000268592', 'score': 15.66}, {'connected_gene': 'LRP11', 'score': 10.62}, {'connected_gene': 'PLEKHG1', 'score': 0.44}, {'connected_gene': 'LOC100420304', 'score': 0.18}]
chr6 GH06I149840 149840108 149841594 1.26 [{'connected_gene': 'ENSG00000231760', 'score': 33.95}, {'connected_gene': 'LRP11', 'score': 12.98}, {'connected_gene': 'RAET1E', 'score': 12.27}, {'connected_gene': 'GINM1', 'score': 10.42}, {'connected_gene': 'ENSG00000233330', 'score': 9.14}, {'connected_gene': 'ENSG00000202343', 'score': 9.14}, {'connected_gene': 'RPS18P9', 'score': 9.14}, {'connected_gene': 'ENSG00000273132', 'score': 0.39}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I150250 150250413 150258403 1.64 [{'connected_gene': 'ENSG00000268592', 'score': 15.94}, {'connected_gene': 'NUP43', 'score': 15.55}, {'connected_gene': 'ENSG00000216906', 'score': 15.04}, {'connected_gene': 'PPIL4', 'score': 13.33}, {'connected_gene': 'ENSG00000231760', 'score': 12.72}, {'connected_gene': 'KATNA1', 'score': 11.45}, {'connected_gene': 'LRP11', 'score': 11.34}, {'connected_gene': 'LATS1', 'score': 11.33}, {'connected_gene': 'ENSG00000238594', 'score': 11.3}, {'connected_gene': 'PPP1R14C', 'score': 10.82}, {'connected_gene': 'RAET1G', 'score': 3.97}, {'connected_gene': 'ULBP2', 'score': 1.63}, {'connected_gene': 'RAET1L', 'score': 1.25}, {'connected_gene': 'LOC105378054', 'score': 0.37}, {'connected_gene': 'GC06M150158', 'score': 0.14}]
chr6 GH06I149830 149830640 149831818 1.22 [{'connected_gene': 'ENSG00000231760', 'score': 49.57}, {'connected_gene': 'RAET1E', 'score': 11.63}, {'connected_gene': 'ENSG00000273132', 'score': 0.34}, {'connected_gene': 'LRP11', 'score': 0.29}, {'connected_gene': 'GC06P149237', 'score': 0.03}]
chr6 GH06I149850 149850740 149857909 1.29 [{'connected_gene': 'ENSG00000273132', 'score': 550.77}, {'connected_gene': 'ENSG00000231760', 'score': 45.28}, {'connected_gene': 'RAET1E', 'score': 11.48}, {'connected_gene': 'GINM1', 'score': 9.4}, {'connected_gene': 'LRP11', 'score': 6.5}, {'connected_gene': 'ENSG00000268592', 'score': 0.44}, {'connected_gene': 'GC06P149237', 'score': 0.03}]