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
ENST00000450751 [[83211950, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83315887, 83316356]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240247]]
ENST00000563800 [[83211952, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83297114, 83298936]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83297114, 83297210]]
ENST00000398591 [[83212572, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222201, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83240383, 83240573]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222201, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240247]]
ENST00000562019 [[83212572, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222201, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83296888, 83297220]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222201, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83296888, 83296903]]
ENST00000423133 [[83213022, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240559]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240247]]
ENST00000568128 [[83213022, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83316606, 83316728]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83316606, 83316621]]
ENST00000564522 [[83213044, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83240383, 83240509]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240247]]
ENST00000261723 [[83213044, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83241745, 83241961]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83241745, 83241944]]
ENST00000568757 [[83213107, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83252119, 83252211], [83295943, 83296118], [83315887, 83316110]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240247]]
ENST00000570229 [[83213202, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83240093, 83240282], [83240383, 83240534]] [[83222731, 83222741], [83224619, 83224872], [83240093, 83240247]]
ENST00000398592 [[83213202, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83240093, 83240282], [83240383, 83240534]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224800]]
ENST00000570205 [[83226271, 83226736], [83240093, 83240197]] None
ENST00000568994 [[83226548, 83226736], [83240093, 83240282], [83240651, 83240828]] [[83226548, 83226736], [83240093, 83240247]]
ENST00000569015 [[83211950, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83225286]] None
ENST00000569257 [[83240140, 83240282], [83295943, 83296118], [83301922, 83301972], [83310375, 83310433], [83315772, 83315874]] [[83240140, 83240247]]
ENST00000567678 [[83240195, 83240282], [83295943, 83296118], [83315959, 83316254]] [[83240195, 83240247]]
ENST00000566716 [[83296039, 83296118], [83317189, 83317612]] None
ENST00000563519 [[83301932, 83301972], [83307315, 83307385], [83309407, 83309616], [83310375, 83310433], [83316970, 83317129]] None
NM_001079535 [[83211950, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240573]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240247]]
NM_001079533 [[83211950, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222201, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83240383, 83240573]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222201, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240247]]
NM_001079534 [[83211950, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83240383, 83240573]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240247]]
NM_001288820 [[83211950, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83240093, 83240282], [83240383, 83240573]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224800]]
NM_001288819 [[83211950, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83315887, 83316356]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240247]]
NM_030594 [[83211950, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83316606, 83316767]] [[83213341, 83213452], [83215190, 83215271], [83215892, 83215987], [83218209, 83218408], [83221229, 83221366], [83222216, 83222306], [83222627, 83222741], [83224619, 83224872], [83226509, 83226736], [83240093, 83240282], [83295943, 83296118], [83316606, 83316621]]
Promoter
Chrom Start End Description
chr15 83240507 83240539 CAGE_peak_2_at_CPEB1_5end
chr15 83240553 83240576 CAGE_peak_5_at_CPEB1_5end
chr15 83240770 83240781 CAGE_peak_8_at_CPEB1_5end
chr15 83240783 83240846 CAGE_peak_1_at_CPEB1_5end
chr15 83315922 83315933 CAGE_peak_16_at_CPEB1_5end
chr15 83316004 83316014 CAGE_peak_18_at_CPEB1_5end
chr15 83316087 83316137 CAGE_peak_3_at_CPEB1_5end
chr15 83316348 83316368 CAGE_peak_6_at_CPEB1_5end
chr15 83316711 83316723 CAGE_peak_12_at_CPEB1_5end
chr15 83316794 83316812 CAGE_peak_9_at_CPEB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I082644 82644009 82644139 0.72 [{'connected_gene': 'AP3B2', 'score': 11.46}, {'connected_gene': 'CPEB1', 'score': 0.77}, {'connected_gene': 'GC15P082650', 'score': 0.77}, {'connected_gene': 'GC15P082601', 'score': 0.26}]
chr15 GH15I082640 82640805 82640879 0.52 [{'connected_gene': 'AP3B2', 'score': 10.92}, {'connected_gene': 'CPEB1', 'score': 0.44}, {'connected_gene': 'GC15P082650', 'score': 0.44}, {'connected_gene': 'GC15P082601', 'score': 0.28}]
chr15 GH15I082543 82543101 82543559 0.2 [{'connected_gene': 'AP3B2', 'score': 15.39}, {'connected_gene': 'ENSG00000278013', 'score': 0.77}, {'connected_gene': 'ENSG00000260836', 'score': 0.39}, {'connected_gene': 'CPEB1', 'score': 0.14}]
chr15 GH15I082708 82708309 82710353 1.97 [{'connected_gene': 'AP3B2', 'score': 589.63}, {'connected_gene': 'SAXO2', 'score': 23.93}, {'connected_gene': 'C15orf40', 'score': 20.26}, {'connected_gene': 'WHAMM', 'score': 14.04}, {'connected_gene': 'SNHG21', 'score': 12.08}, {'connected_gene': 'RPL9P9', 'score': 10.87}, {'connected_gene': 'CPEB1', 'score': 10.8}, {'connected_gene': 'HDGFL3', 'score': 9.83}, {'connected_gene': 'EFL1', 'score': 4.67}, {'connected_gene': 'PIR57194', 'score': 0.77}]
chr15 GH15I082570 82570759 82572662 2.06 [{'connected_gene': 'CPEB1', 'score': 553.37}, {'connected_gene': 'AP3B2', 'score': 29.71}, {'connected_gene': 'FAM103A1', 'score': 13.51}, {'connected_gene': 'CSPG4P10', 'score': 10.37}, {'connected_gene': 'ENSG00000260836', 'score': 0.37}, {'connected_gene': 'GC15P082601', 'score': 0.29}]
chr15 GH15I082646 82646999 82648486 1.94 [{'connected_gene': 'CPEB1', 'score': 550.77}, {'connected_gene': 'GC15P082650', 'score': 550.77}, {'connected_gene': 'CPEB1-AS1', 'score': 550.77}, {'connected_gene': 'WHAMM', 'score': 26.02}, {'connected_gene': 'C15orf40', 'score': 25.61}, {'connected_gene': 'CSPG4P10', 'score': 22.32}, {'connected_gene': 'FAM103A1', 'score': 12.64}, {'connected_gene': 'GOLGA6L9', 'score': 10.34}]
chr15 GH15I082613 82613954 82614013 0.76 [{'connected_gene': 'CPEB1', 'score': 550.29}, {'connected_gene': 'GC15P082601', 'score': 0.39}, {'connected_gene': 'GC15P082650', 'score': 0.29}]
chr15 GH15I082260 82260793 82263914 2.27 [{'connected_gene': 'SAXO2', 'score': 598.52}, {'connected_gene': 'EFL1', 'score': 550.77}, {'connected_gene': 'CSPG4P10', 'score': 19.96}, {'connected_gene': 'HDGFL3', 'score': 14.24}, {'connected_gene': 'CPEB1', 'score': 10.01}, {'connected_gene': 'AP3B2', 'score': 6.97}, {'connected_gene': 'GC15M082251', 'score': 0.44}]
chr15 GH15I083010 83010085 83012834 2.09 [{'connected_gene': 'C15orf40', 'score': 592.17}, {'connected_gene': 'PIR34182', 'score': 550.77}, {'connected_gene': 'GC15M083024', 'score': 550.77}, {'connected_gene': 'ENSG00000260608', 'score': 550.77}, {'connected_gene': 'FAM103A1', 'score': 33.38}, {'connected_gene': 'WHAMM', 'score': 23.31}, {'connected_gene': 'ENSG00000260579', 'score': 17.94}, {'connected_gene': 'HOMER2', 'score': 16.1}, {'connected_gene': 'BTBD1', 'score': 15.07}, {'connected_gene': 'CPEB1-AS1', 'score': 11.86}, {'connected_gene': 'CPEB1', 'score': 11.78}, {'connected_gene': 'AP3B2', 'score': 9.94}, {'connected_gene': 'RPL9P9', 'score': 9.88}, {'connected_gene': 'TM6SF1', 'score': 9.68}, {'connected_gene': 'GOLGA6L9', 'score': 6.77}, {'connected_gene': 'LOC105370928', 'score': 0.13}]
chr15 GH15I082660 82660649 82661031 0.25 [{'connected_gene': 'PIR41426', 'score': 550.77}, {'connected_gene': 'PIR59557', 'score': 550.77}, {'connected_gene': 'AP3B2', 'score': 4.64}, {'connected_gene': 'CPEB1', 'score': 3.08}, {'connected_gene': 'PIR63047', 'score': 0.77}, {'connected_gene': 'CPEB1-AS1', 'score': 0.39}]
chr15 GH15I082553 82553971 82554120 0.43 [{'connected_gene': 'ENSG00000260836', 'score': 550.77}, {'connected_gene': 'SCARNA15', 'score': 11.26}, {'connected_gene': 'AP3B2', 'score': 10.5}, {'connected_gene': 'ENSG00000278013', 'score': 0.39}, {'connected_gene': 'CPEB1', 'score': 0.16}]
chr15 GH15I082563 82563199 82563383 0.22 [{'connected_gene': 'ENSG00000260836', 'score': 0.44}, {'connected_gene': 'GC15P082601', 'score': 0.28}, {'connected_gene': 'CPEB1', 'score': 0.17}]
chr15 GH15I082584 82584726 82584924 0.46 [{'connected_gene': 'GC15P082601', 'score': 0.37}, {'connected_gene': 'ENSG00000260836', 'score': 0.31}, {'connected_gene': 'CPEB1', 'score': 0.21}]
chr15 GH15I082624 82624290 82624419 0.52 [{'connected_gene': 'GC15P082601', 'score': 0.34}, {'connected_gene': 'CPEB1', 'score': 0.34}, {'connected_gene': 'GC15P082650', 'score': 0.34}]
chr15 GH15I083276 83276277 83277231 0.31 [{'connected_gene': 'ENSG00000260579', 'score': 17.89}, {'connected_gene': 'CPEB1-AS1', 'score': 11.84}, {'connected_gene': 'CPEB1', 'score': 11.75}, {'connected_gene': 'AP3B2', 'score': 9.91}, {'connected_gene': 'LOC105370932', 'score': 0.44}, {'connected_gene': 'BNC1', 'score': 0.44}, {'connected_gene': 'HDGFL3', 'score': 0.2}, {'connected_gene': 'ENSG00000259986', 'score': 0.15}]

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