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
ENST00000371172 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98115011, 98115047], [98118650, 98119059]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98115011, 98115047], [98118650, 98118653]]
ENST00000419479 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113242], [98115011, 98115047], [98118650, 98119092]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113212]]
ENST00000393871 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98118650, 98119092]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98118650, 98118653]]
ENST00000393870 [[98104764, 98105874], [98108045, 98108102], [98109463, 98109583], [98115011, 98115047], [98118650, 98118738]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98115011, 98115047], [98118650, 98118653]]
ENST00000536387 [[98105255, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113242], [98115011, 98115047], [98116773, 98116916]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113212]]
NM_001284323 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113242], [98115011, 98115047], [98116666, 98116916]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113212]]
NM_001284326 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98115011, 98115047], [98116666, 98116916]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109469]]
NM_001284324 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113242], [98115011, 98115047], [98116773, 98116916]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113212]]
NM_001284327 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98115011, 98115047], [98116773, 98116916]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109469]]
NR_104296 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98114952, 98115047], [98118650, 98119122]] None
NM_001284322 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113285], [98115011, 98115047], [98118650, 98119122]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113212]]
NM_001040103 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113242], [98115011, 98115047], [98118650, 98119122]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98113203, 98113212]]
NM_033207 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98115011, 98115047], [98118650, 98119122]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98115011, 98115047], [98118650, 98118653]]
NR_104297 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111148, 98111167], [98115011, 98115047], [98118650, 98119122]] None
NM_001284320 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98115011, 98115047], [98118650, 98119122]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98115011, 98115047], [98118650, 98118653]]
NM_001284321 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98118650, 98119122]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98111134, 98111167], [98118650, 98118653]]
NM_001040102 [[98102972, 98105874], [98108045, 98108102], [98109463, 98109583], [98118650, 98119122]] [[98105697, 98105874], [98108045, 98108102], [98109463, 98109583], [98118650, 98118653]]
Promoter
Chrom Start End Description
chr10 98116912 98116917 CAGE_peak_8_at_OPALIN_5end
chr10 98118687 98118699 CAGE_peak_5_at_OPALIN_5end
chr10 98118704 98118719 CAGE_peak_2_at_OPALIN_5end
chr10 98118724 98118738 CAGE_peak_4_at_OPALIN_5end
chr10 98118746 98118772 CAGE_peak_1_at_OPALIN_5end
chr10 98118779 98118794 CAGE_peak_3_at_OPALIN_5end
chr10 98119004 98119021 CAGE_peak_6_at_OPALIN_5end
chr10 98119030 98119041 CAGE_peak_7_at_OPALIN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I096440 96440067 96441766 0.4 [{'connected_gene': 'OPALIN', 'score': 10.56}, {'connected_gene': 'GC10M096095', 'score': 0.34}, {'connected_gene': 'TLL2', 'score': 0.19}]
chr10 GH10I096470 96470244 96470353 0.52 [{'connected_gene': 'OPALIN', 'score': 9.89}, {'connected_gene': 'TLL2', 'score': 0.26}, {'connected_gene': 'GC10M096095', 'score': 0.23}]
chr10 GH10I096439 96439980 96440033 0.2 [{'connected_gene': 'OPALIN', 'score': 10.56}, {'connected_gene': 'GC10M096095', 'score': 0.34}, {'connected_gene': 'TLL2', 'score': 0.19}]
chr10 GH10I096308 96308534 96311192 0.86 [{'connected_gene': 'OPALIN', 'score': 10.27}, {'connected_gene': 'ENSG00000229418', 'score': 0.77}, {'connected_gene': 'DNTT', 'score': 0.44}, {'connected_gene': 'GC10P096324', 'score': 0.39}, {'connected_gene': 'GC10P096322', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096331 96330322 96330711 0.24 [{'connected_gene': 'OPALIN', 'score': 11.43}, {'connected_gene': 'GC10P096324', 'score': 0.44}, {'connected_gene': 'GC10P096322', 'score': 0.44}, {'connected_gene': 'GC10P096338', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.17}]
chr10 GH10I096332 96332104 96333072 0.2 [{'connected_gene': 'OPALIN', 'score': 11.43}, {'connected_gene': 'GC10P096324', 'score': 0.44}, {'connected_gene': 'GC10P096322', 'score': 0.44}, {'connected_gene': 'GC10P096338', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096333 96333244 96333373 0.4 [{'connected_gene': 'OPALIN', 'score': 11.43}, {'connected_gene': 'GC10P096338', 'score': 0.44}, {'connected_gene': 'GC10P096324', 'score': 0.39}, {'connected_gene': 'GC10P096322', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096330 96330732 96331778 0.38 [{'connected_gene': 'OPALIN', 'score': 11.43}, {'connected_gene': 'GC10P096324', 'score': 0.44}, {'connected_gene': 'GC10P096322', 'score': 0.44}, {'connected_gene': 'GC10P096338', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.17}]
chr10 GH10I096334 96334627 96336153 0.62 [{'connected_gene': 'OPALIN', 'score': 11.46}, {'connected_gene': 'GC10P096338', 'score': 0.77}, {'connected_gene': 'GC10P096324', 'score': 0.39}, {'connected_gene': 'GC10P096322', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.29}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096284 96284686 96284857 0.22 [{'connected_gene': 'OPALIN', 'score': 9.73}, {'connected_gene': 'RNU6-271P', 'score': 9.67}, {'connected_gene': 'CC2D2B', 'score': 3.86}, {'connected_gene': 'BLNK', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096285 96285404 96285593 0.65 [{'connected_gene': 'OPALIN', 'score': 9.73}, {'connected_gene': 'RNU6-271P', 'score': 9.67}, {'connected_gene': 'BLNK', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096505 96505039 96506087 0.54 [{'connected_gene': 'OPALIN', 'score': 10.2}, {'connected_gene': 'NPM1P26', 'score': 8.74}, {'connected_gene': 'RPL13AP5', 'score': 4.25}, {'connected_gene': 'TLL2', 'score': 0.44}, {'connected_gene': 'GC10M096095', 'score': 0.17}]
chr10 GH10I096351 96351760 96353975 0.4 [{'connected_gene': 'OPALIN', 'score': 0.44}, {'connected_gene': 'GC10P096338', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.21}]
chr10 GH10I096357 96357149 96357208 0.81 [{'connected_gene': 'OPALIN', 'score': 550.77}, {'connected_gene': 'GC10P096338', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.22}]
chr10 GH10I096355 96355166 96356374 0.2 [{'connected_gene': 'OPALIN', 'score': 0.77}, {'connected_gene': 'GC10P096338', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.21}]
chr10 GH10I096359 96359269 96359328 0.7 [{'connected_gene': 'OPALIN', 'score': 550.77}, {'connected_gene': 'GC10P096338', 'score': 0.34}, {'connected_gene': 'GC10M096095', 'score': 0.22}]
chr10 GH10I096358 96358989 96359048 0.7 [{'connected_gene': 'OPALIN', 'score': 550.77}, {'connected_gene': 'GC10P096338', 'score': 0.34}, {'connected_gene': 'GC10M096095', 'score': 0.22}]
chr10 GH10I096502 96502084 96502253 0.49 [{'connected_gene': 'TLL2', 'score': 16.05}, {'connected_gene': 'OPALIN', 'score': 10.2}, {'connected_gene': 'GC10M096095', 'score': 0.17}]
chr10 GH10I095906 95906601 95908600 1.99 [{'connected_gene': 'CC2D2B', 'score': 550.77}, {'connected_gene': 'ENTPD1', 'score': 14.2}, {'connected_gene': 'OPALIN', 'score': 9.25}, {'connected_gene': 'TCTN3', 'score': 6.51}, {'connected_gene': 'PIR62915', 'score': 0.44}, {'connected_gene': 'ENSG00000270099', 'score': 0.25}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.09}]
chr10 GH10I096364 96364798 96369498 0.43 [{'connected_gene': 'BLNK', 'score': 15.01}, {'connected_gene': 'GC10P096374', 'score': 0.44}, {'connected_gene': 'OPALIN', 'score': 0.44}, {'connected_gene': 'GC10M096095', 'score': 0.25}, {'connected_gene': 'TLL2', 'score': 0.11}]
chr10 GH10I096242 96241794 96245214 1.15 [{'connected_gene': 'BLNK', 'score': 19.4}, {'connected_gene': 'OPALIN', 'score': 10.14}, {'connected_gene': 'CC2D2B', 'score': 9.76}, {'connected_gene': 'GC10M096216', 'score': 0.77}, {'connected_gene': 'GC10M096200', 'score': 0.26}, {'connected_gene': 'GC10M096095', 'score': 0.09}]
chr10 GH10I096286 96286322 96291549 1.58 [{'connected_gene': 'BLNK', 'score': 10.58}, {'connected_gene': 'OPALIN', 'score': 9.73}, {'connected_gene': 'RNU6-271P', 'score': 9.68}, {'connected_gene': 'TLL2', 'score': 4.87}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096292 96292984 96294075 1.03 [{'connected_gene': 'BLNK', 'score': 11.41}, {'connected_gene': 'OPALIN', 'score': 9.74}, {'connected_gene': 'RNU6-271P', 'score': 9.67}, {'connected_gene': 'DNTT', 'score': 0.39}, {'connected_gene': 'ENSG00000229418', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096247 96247933 96250930 0.2 [{'connected_gene': 'BLNK', 'score': 17.27}, {'connected_gene': 'OPALIN', 'score': 9.8}, {'connected_gene': 'GC10M096216', 'score': 0.77}, {'connected_gene': 'GC10M096095', 'score': 0.1}]
chr10 GH10I096362 96362075 96363621 0.31 [{'connected_gene': 'BLNK', 'score': 5.95}, {'connected_gene': 'OPALIN', 'score': 0.77}, {'connected_gene': 'GC10P096374', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.23}]
chr10 GH10I096235 96235804 96236473 0.66 [{'connected_gene': 'BLNK', 'score': 11.29}, {'connected_gene': 'OPALIN', 'score': 9.75}, {'connected_gene': 'GC10M096216', 'score': 0.39}, {'connected_gene': 'GC10M096200', 'score': 0.29}, {'connected_gene': 'GC10M096095', 'score': 0.09}]
chr10 GH10I096238 96238882 96239689 0.62 [{'connected_gene': 'BLNK', 'score': 11.19}, {'connected_gene': 'OPALIN', 'score': 10.1}, {'connected_gene': 'GC10M096216', 'score': 0.44}, {'connected_gene': 'GC10M096200', 'score': 0.28}, {'connected_gene': 'GC10M096095', 'score': 0.1}]
chr10 GH10I096241 96241551 96241694 0.24 [{'connected_gene': 'BLNK', 'score': 23.84}, {'connected_gene': 'CC2D2B', 'score': 10.97}, {'connected_gene': 'OPALIN', 'score': 10.14}, {'connected_gene': 'GC10M096216', 'score': 0.77}, {'connected_gene': 'GC10M096200', 'score': 0.28}, {'connected_gene': 'GC10M096095', 'score': 0.09}]
chr10 GH10I096508 96508835 96509697 0.49 [{'connected_gene': 'NPM1P26', 'score': 18.07}, {'connected_gene': 'OPALIN', 'score': 9.93}, {'connected_gene': 'TLL2', 'score': 0.77}, {'connected_gene': 'GC10M096095', 'score': 0.16}]
chr10 GH10I096370 96370684 96370833 0.82 [{'connected_gene': 'GC10P096374', 'score': 0.77}, {'connected_gene': 'OPALIN', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.25}, {'connected_gene': 'TLL2', 'score': 0.11}]
chr10 GH10I096307 96307793 96308174 0.2 [{'connected_gene': 'ENSG00000229418', 'score': 550.77}, {'connected_gene': 'OPALIN', 'score': 10.25}, {'connected_gene': 'DNTT', 'score': 0.77}, {'connected_gene': 'GC10P096324', 'score': 0.39}, {'connected_gene': 'GC10P096322', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096306 96305399 96307425 0.71 [{'connected_gene': 'ENSG00000229418', 'score': 550.77}, {'connected_gene': 'OPALIN', 'score': 10.25}, {'connected_gene': 'DNTT', 'score': 0.77}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096337 96337281 96340058 0.46 [{'connected_gene': 'GC10P096338', 'score': 550.77}, {'connected_gene': 'OPALIN', 'score': 11.46}, {'connected_gene': 'DNTT', 'score': 0.29}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096340 96340424 96340573 0.8 [{'connected_gene': 'GC10P096338', 'score': 0.77}, {'connected_gene': 'OPALIN', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096344 96344953 96346365 0.54 [{'connected_gene': 'GC10P096338', 'score': 0.44}, {'connected_gene': 'OPALIN', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.19}]
chr10 GH10I096341 96341244 96341393 0.58 [{'connected_gene': 'GC10P096338', 'score': 0.77}, {'connected_gene': 'OPALIN', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.18}]
chr10 GH10I096616 96616974 96618269 0.2 [{'connected_gene': 'GC10P096620', 'score': 550.77}, {'connected_gene': 'RNA5SP324', 'score': 550.77}, {'connected_gene': 'NPM1P26', 'score': 18.72}, {'connected_gene': 'PIK3AP1', 'score': 10.27}, {'connected_gene': 'OPALIN', 'score': 9.02}, {'connected_gene': 'PIR47263', 'score': 0.44}]
chr10 GH10I096605 96605510 96615293 0.99 [{'connected_gene': 'PIR47263', 'score': 550.77}, {'connected_gene': 'NPM1P26', 'score': 20.0}, {'connected_gene': 'TLL2', 'score': 13.09}, {'connected_gene': 'PIK3AP1', 'score': 10.7}, {'connected_gene': 'OPALIN', 'score': 9.02}, {'connected_gene': 'GC10P096620', 'score': 0.44}, {'connected_gene': 'LOC105378443', 'score': 0.34}]

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