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
ENST00000537675 [[27284655, 27284970], [27286206, 27286360], [27289669, 27289729], [27291016, 27291061], [27294313, 27294400], [27296610, 27296736], [27296977, 27297137]] [[27284720, 27284970], [27286206, 27286360], [27289669, 27289729], [27291016, 27291061], [27294313, 27294400], [27296610, 27296736], [27296977, 27297053]]
ENST00000380032 [[27284658, 27284970], [27286206, 27286360], [27289669, 27289729], [27291016, 27291061], [27292398, 27292485], [27294313, 27294400], [27296610, 27296736], [27296977, 27297137]] [[27284720, 27284970], [27286206, 27286360], [27289669, 27289729], [27291016, 27291061], [27292398, 27292485], [27294313, 27294400], [27296610, 27296736], [27296977, 27297053]]
ENST00000380031 [[27292132, 27292485], [27294313, 27294400], [27296610, 27296736], [27296977, 27297134]] [[27292390, 27292485], [27294313, 27294400], [27296610, 27296736], [27296977, 27297053]]
ENST00000484994 [[27292410, 27292485], [27294313, 27294493], [27296610, 27296738]] None
NM_020641 [[27284651, 27284970], [27286206, 27286360], [27289669, 27289729], [27291016, 27291061], [27292398, 27292485], [27294313, 27294400], [27296610, 27296736], [27296977, 27297137]] [[27284720, 27284970], [27286206, 27286360], [27289669, 27289729], [27291016, 27291061], [27292398, 27292485], [27294313, 27294400], [27296610, 27296736], [27296977, 27297053]]
NM_001161585 [[27284651, 27284970], [27286206, 27286360], [27289669, 27289729], [27291016, 27291061], [27294313, 27294400], [27296610, 27296736], [27296977, 27297137]] [[27284720, 27284970], [27286206, 27286360], [27289669, 27289729], [27291016, 27291061], [27294313, 27294400], [27296610, 27296736], [27296977, 27297053]]
Promoter
Chrom Start End Description
chr9 27297095 27297114 CAGE_peak_1_at_C9orf11_5end
chr9 27297126 27297140 CAGE_peak_2_at_C9orf11_5end
chr9 27297141 27297152 CAGE_peak_3_at_C9orf11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I027336 27336679 27342555 1.13 [{'connected_gene': 'IFT74', 'score': 13.6}, {'connected_gene': 'MOB3B', 'score': 12.37}, {'connected_gene': 'IFNK', 'score': 10.78}, {'connected_gene': 'EQTN', 'score': 10.61}, {'connected_gene': 'ENSG00000237734', 'score': 9.99}, {'connected_gene': 'C9orf72', 'score': 5.38}, {'connected_gene': 'GC09M027375', 'score': 0.28}]
chr9 GH09I027351 27351130 27352775 1.32 [{'connected_gene': 'IFT74', 'score': 23.72}, {'connected_gene': 'MOB3B', 'score': 11.44}, {'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'C9orf72', 'score': 10.5}, {'connected_gene': 'PLAA', 'score': 1.23}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.23}]
chr9 GH09I027053 27053092 27055000 0.66 [{'connected_gene': 'IFT74', 'score': 15.28}, {'connected_gene': 'LRRC19', 'score': 12.87}, {'connected_gene': 'TEK', 'score': 10.95}, {'connected_gene': 'EQTN', 'score': 9.58}, {'connected_gene': 'ENSG00000254396', 'score': 0.25}]
chr9 GH09I027365 27365018 27373527 1.48 [{'connected_gene': 'MOB3B', 'score': 19.35}, {'connected_gene': 'IFT74', 'score': 15.44}, {'connected_gene': 'ENSG00000237734', 'score': 11.35}, {'connected_gene': 'EQTN', 'score': 10.29}, {'connected_gene': 'IFNK', 'score': 9.85}, {'connected_gene': 'C9orf72', 'score': 7.34}, {'connected_gene': 'PLAA', 'score': 1.22}, {'connected_gene': 'GC09M027375', 'score': 0.44}]
chr9 GH09I027332 27332783 27334059 1.33 [{'connected_gene': 'MOB3B', 'score': 13.98}, {'connected_gene': 'IFNK', 'score': 10.94}, {'connected_gene': 'EQTN', 'score': 10.51}, {'connected_gene': 'IFT74', 'score': 5.59}, {'connected_gene': 'C9orf72', 'score': 2.91}, {'connected_gene': 'GC09M027375', 'score': 0.25}]
chr9 GH09I027346 27346916 27348083 0.38 [{'connected_gene': 'MOB3B', 'score': 11.43}, {'connected_gene': 'IFNK', 'score': 10.67}, {'connected_gene': 'EQTN', 'score': 10.17}, {'connected_gene': 'GC09M027375', 'score': 0.29}]
chr9 GH09I027343 27343424 27346779 0.2 [{'connected_gene': 'MOB3B', 'score': 10.95}, {'connected_gene': 'IFNK', 'score': 10.68}, {'connected_gene': 'EQTN', 'score': 10.34}, {'connected_gene': 'GC09M027375', 'score': 0.29}]
chr9 GH09I027329 27329138 27331268 0.31 [{'connected_gene': 'MOB3B', 'score': 12.15}, {'connected_gene': 'IFNK', 'score': 10.94}, {'connected_gene': 'EQTN', 'score': 10.83}, {'connected_gene': 'GC09M027375', 'score': 0.25}]
chr9 GH09I027349 27349549 27350009 0.38 [{'connected_gene': 'MOB3B', 'score': 11.43}, {'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.23}]
chr9 GH09I027348 27348655 27349234 0.38 [{'connected_gene': 'MOB3B', 'score': 11.43}, {'connected_gene': 'IFNK', 'score': 10.67}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.23}]
chr9 GH09I027335 27335624 27335907 0.2 [{'connected_gene': 'MOB3B', 'score': 12.37}, {'connected_gene': 'IFNK', 'score': 10.41}, {'connected_gene': 'EQTN', 'score': 9.99}, {'connected_gene': 'GC09M027375', 'score': 0.26}]
chr9 GH09I027352 27352805 27354441 1.06 [{'connected_gene': 'MOB3B', 'score': 11.44}, {'connected_gene': 'IFNK', 'score': 10.66}, {'connected_gene': 'GC09M027375', 'score': 0.31}, {'connected_gene': 'EQTN', 'score': 0.22}]
chr9 GH09I027455 27455705 27458513 0.94 [{'connected_gene': 'MOB3B', 'score': 10.99}, {'connected_gene': 'EQTN', 'score': 9.47}, {'connected_gene': 'LOC105376001', 'score': 0.26}, {'connected_gene': 'ENSG00000237734', 'score': 0.2}]
chr9 GH09I027360 27360585 27363202 0.77 [{'connected_gene': 'MOB3B', 'score': 11.49}, {'connected_gene': 'ENSG00000237734', 'score': 11.11}, {'connected_gene': 'EQTN', 'score': 10.31}, {'connected_gene': 'GC09M027375', 'score': 0.37}]
chr9 GH09I027527 27527075 27530434 2.07 [{'connected_gene': 'MOB3B', 'score': 556.14}, {'connected_gene': 'C9orf72', 'score': 17.08}, {'connected_gene': 'EQTN', 'score': 8.81}, {'connected_gene': 'IFNK', 'score': 0.77}]
chr9 GH09I027507 27507013 27508578 0.2 [{'connected_gene': 'MOB3B', 'score': 28.66}, {'connected_gene': 'C9orf72', 'score': 16.34}, {'connected_gene': 'EQTN', 'score': 9.77}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'IFNK', 'score': 0.37}]
chr9 GH09I027538 27538509 27541317 1.25 [{'connected_gene': 'MOB3B', 'score': 19.26}, {'connected_gene': 'C9orf72', 'score': 10.41}, {'connected_gene': 'EQTN', 'score': 10.12}]
chr9 GH09I027085 27085860 27090666 0.69 [{'connected_gene': 'TEK', 'score': 12.42}, {'connected_gene': 'CAAP1', 'score': 11.27}, {'connected_gene': 'EQTN', 'score': 9.79}, {'connected_gene': 'IFT74', 'score': 8.81}, {'connected_gene': 'LRRC19', 'score': 7.77}, {'connected_gene': 'ENSG00000254396', 'score': 5.99}]
chr9 GH09I027123 27123781 27127233 0.96 [{'connected_gene': 'TEK', 'score': 10.98}, {'connected_gene': 'EQTN', 'score': 9.76}, {'connected_gene': 'LRRC19', 'score': 5.57}, {'connected_gene': 'ENSG00000254396', 'score': 5.25}, {'connected_gene': 'PIR32540', 'score': 0.39}]
chr9 GH09I027180 27180913 27182342 0.31 [{'connected_gene': 'TEK', 'score': 10.75}, {'connected_gene': 'EQTN', 'score': 10.3}, {'connected_gene': 'RNA5SP280', 'score': 0.37}, {'connected_gene': 'PIR32540', 'score': 0.26}]
chr9 GH09I027130 27130771 27131858 0.2 [{'connected_gene': 'TEK', 'score': 22.93}, {'connected_gene': 'EQTN', 'score': 9.76}, {'connected_gene': 'PIR32540', 'score': 0.44}]
chr9 GH09I027131 27131863 27132012 0.2 [{'connected_gene': 'TEK', 'score': 12.38}, {'connected_gene': 'EQTN', 'score': 9.76}, {'connected_gene': 'PIR32540', 'score': 0.77}]
chr9 GH09I027129 27129057 27130081 0.2 [{'connected_gene': 'TEK', 'score': 12.38}, {'connected_gene': 'EQTN', 'score': 9.76}, {'connected_gene': 'PIR32540', 'score': 0.44}]
chr9 GH09I027444 27444992 27449526 0.46 [{'connected_gene': 'IFNK', 'score': 9.76}, {'connected_gene': 'EQTN', 'score': 9.44}, {'connected_gene': 'LOC105376001', 'score': 0.23}, {'connected_gene': 'ENSG00000237734', 'score': 0.22}, {'connected_gene': 'MOB3B', 'score': 0.18}]
chr9 GH09I027406 27406809 27409164 0.94 [{'connected_gene': 'IFNK', 'score': 10.76}, {'connected_gene': 'EQTN', 'score': 10.19}, {'connected_gene': 'ENSG00000237734', 'score': 0.37}, {'connected_gene': 'LOC105376001', 'score': 0.16}, {'connected_gene': 'MOB3B', 'score': 0.13}]
chr9 GH09I027093 27093974 27095567 0.31 [{'connected_gene': 'EQTN', 'score': 9.7}, {'connected_gene': 'CAAP1', 'score': 6.69}, {'connected_gene': 'ENSG00000254396', 'score': 0.44}, {'connected_gene': 'LRRC19', 'score': 0.17}]
chr9 GH09I027262 27261763 27261912 0.31 [{'connected_gene': 'EQTN', 'score': 10.71}, {'connected_gene': 'CAAP1', 'score': 4.8}, {'connected_gene': 'LINC00032', 'score': 0.34}, {'connected_gene': 'RPL36AP34', 'score': 0.23}]
chr9 GH09I027392 27392481 27396602 1.04 [{'connected_gene': 'EQTN', 'score': 10.0}, {'connected_gene': 'MOB3B', 'score': 4.45}, {'connected_gene': 'ENSG00000237734', 'score': 0.77}, {'connected_gene': 'LOC105376001', 'score': 0.15}]
chr9 GH09I027357 27357199 27358067 0.2 [{'connected_gene': 'EQTN', 'score': 9.9}, {'connected_gene': 'GC09M027375', 'score': 0.34}, {'connected_gene': 'MOB3B', 'score': 0.09}]
chr9 GH09I027226 27226863 27228110 0.52 [{'connected_gene': 'EQTN', 'score': 10.34}, {'connected_gene': 'TEK', 'score': 10.31}, {'connected_gene': 'RPL36AP34', 'score': 0.37}, {'connected_gene': 'LINC00032', 'score': 0.22}]
chr9 GH09I027117 27117143 27119853 1.33 [{'connected_gene': 'EQTN', 'score': 10.03}, {'connected_gene': 'LRRC19', 'score': 6.69}, {'connected_gene': 'TEK', 'score': 0.44}, {'connected_gene': 'PIR32540', 'score': 0.37}]
chr9 GH09I027276 27276401 27276600 0.54 [{'connected_gene': 'EQTN', 'score': 11.51}, {'connected_gene': 'LINC00032', 'score': 0.44}, {'connected_gene': 'RPL36AP34', 'score': 0.2}]
chr9 GH09I027261 27261523 27261672 0.38 [{'connected_gene': 'EQTN', 'score': 10.71}, {'connected_gene': 'LINC00032', 'score': 0.34}, {'connected_gene': 'RPL36AP34', 'score': 0.23}]
chr9 GH09I027292 27292903 27294454 0.31 [{'connected_gene': 'EQTN', 'score': 0.77}, {'connected_gene': 'LINC00032', 'score': 0.44}]
chr9 GH09I027643 27643776 27646256 0.31 [{'connected_gene': 'EQTN', 'score': 9.8}, {'connected_gene': 'ENSG00000260390', 'score': 5.65}, {'connected_gene': 'LOC105376002', 'score': 0.37}, {'connected_gene': 'CTAGE12P', 'score': 0.29}]
chr9 GH09I027453 27453257 27454990 0.4 [{'connected_gene': 'EQTN', 'score': 9.39}, {'connected_gene': 'LOC105376001', 'score': 0.26}, {'connected_gene': 'ENSG00000237734', 'score': 0.21}, {'connected_gene': 'MOB3B', 'score': 0.18}]
chr9 GH09I027437 27437243 27444044 1.2 [{'connected_gene': 'EQTN', 'score': 9.95}, {'connected_gene': 'ENSG00000237734', 'score': 0.25}, {'connected_gene': 'LOC105376001', 'score': 0.22}, {'connected_gene': 'MOB3B', 'score': 0.17}]
chr9 GH09I027297 27297126 27297185 0.5 [{'connected_gene': 'EQTN', 'score': 550.77}, {'connected_gene': 'GC09M027375', 'score': 0.18}]
chr9 GH09I027302 27302943 27304038 0.65 [{'connected_gene': 'EQTN', 'score': 0.44}, {'connected_gene': 'GC09M027375', 'score': 0.18}]
chr9 GH09I027308 27308823 27308992 0.43 [{'connected_gene': 'EQTN', 'score': 0.39}, {'connected_gene': 'GC09M027375', 'score': 0.19}]
chr9 GH09I027458 27458780 27466034 1.5 [{'connected_gene': 'C9orf72', 'score': 17.82}, {'connected_gene': 'MOB3B', 'score': 11.21}, {'connected_gene': 'ENSG00000237734', 'score': 10.19}, {'connected_gene': 'IFNK', 'score': 10.14}, {'connected_gene': 'EQTN', 'score': 9.46}, {'connected_gene': 'LOC105376001', 'score': 0.28}]
chr9 GH09I027550 27550545 27552309 0.2 [{'connected_gene': 'C9orf72', 'score': 16.4}, {'connected_gene': 'MOB3B', 'score': 12.3}, {'connected_gene': 'IFNK', 'score': 10.84}, {'connected_gene': 'EQTN', 'score': 10.05}]
chr9 GH09I027505 27505236 27506701 0.2 [{'connected_gene': 'C9orf72', 'score': 15.23}, {'connected_gene': 'MOB3B', 'score': 11.56}, {'connected_gene': 'EQTN', 'score': 10.43}, {'connected_gene': 'ENSG00000237734', 'score': 10.41}, {'connected_gene': 'LOC105376001', 'score': 0.44}, {'connected_gene': 'IFNK', 'score': 0.37}]
chr9 GH09I027354 27354932 27355480 0.2 [{'connected_gene': 'ENSG00000237734', 'score': 10.77}, {'connected_gene': 'IFNK', 'score': 9.99}, {'connected_gene': 'EQTN', 'score': 9.93}, {'connected_gene': 'GC09M027375', 'score': 0.34}, {'connected_gene': 'MOB3B', 'score': 0.09}]
chr9 GH09I027412 27412699 27415359 0.97 [{'connected_gene': 'ENSG00000237734', 'score': 11.73}, {'connected_gene': 'IFNK', 'score': 10.76}, {'connected_gene': 'EQTN', 'score': 10.18}, {'connected_gene': 'LOC105376001', 'score': 0.18}, {'connected_gene': 'MOB3B', 'score': 0.13}]
chr9 GH09I027423 27423861 27431032 1.12 [{'connected_gene': 'ENSG00000237734', 'score': 11.29}, {'connected_gene': 'IFNK', 'score': 10.4}, {'connected_gene': 'EQTN', 'score': 9.77}, {'connected_gene': 'LOC105376001', 'score': 0.19}, {'connected_gene': 'MOB3B', 'score': 0.15}]
chr9 GH09I027355 27354468 27354803 0.2 [{'connected_gene': 'ENSG00000237734', 'score': 10.77}, {'connected_gene': 'EQTN', 'score': 9.93}, {'connected_gene': 'GC09M027375', 'score': 0.34}, {'connected_gene': 'MOB3B', 'score': 0.1}]
chr9 GH09I027356 27356823 27356972 0.51 [{'connected_gene': 'GC09M027375', 'score': 0.34}, {'connected_gene': 'EQTN', 'score': 0.22}, {'connected_gene': 'MOB3B', 'score': 0.09}]
chr9 GH09I027374 27374301 27375491 0.2 [{'connected_gene': 'GC09M027375', 'score': 0.77}, {'connected_gene': 'EQTN', 'score': 0.18}, {'connected_gene': 'MOB3B', 'score': 0.1}]
chr9 GH09I027450 27450853 27452079 0.4 [{'connected_gene': 'ENSG00000237734', 'score': 10.8}, {'connected_gene': 'EQTN', 'score': 9.44}, {'connected_gene': 'LOC105376001', 'score': 0.25}, {'connected_gene': 'MOB3B', 'score': 0.18}]

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