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
ENST00000367838 [[168053996, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168083693, 168083787], [168103113, 168103159], [168105494, 168105624]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074088]]
ENST00000271357 [[168054015, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074167]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074088]]
ENST00000478868 [[168054503, 168055034], [168056822, 168058803]] None
ENST00000367836 [[168054506, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168104143, 168104274], [168105247, 168105621]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066448]]
ENST00000539777 [[168054515, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168105494, 168105903]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168105494, 168105634]]
ENST00000537209 [[168054515, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168104143, 168104274], [168106402, 168106536]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168104143, 168104159]]
ENST00000361697 [[168054515, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168104143, 168104274], [168106402, 168106536]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074088]]
ENST00000546300 [[168054515, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168106627, 168106811]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168106627, 168106659]]
ENST00000367835 [[168054515, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168083693, 168083787], [168106402, 168106821]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074088]]
ENST00000493800 [[168059683, 168059906], [168065745, 168066470], [168073714, 168074147]] None
ENST00000485232 [[168087838, 168087973], [168103113, 168103159], [168104143, 168104275]] None
NM_001267612 [[168048779, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168104143, 168104274], [168105247, 168105674]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066448]]
NM_153832 [[168048779, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168083693, 168083787], [168103113, 168103159], [168105494, 168105945]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074088]]
NM_001267613 [[168048779, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168105494, 168105945]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168105494, 168105634]]
NM_001267611 [[168048779, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168106627, 168106811]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168106627, 168106634]]
NM_001267614 [[168048779, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168106627, 168106811]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168106627, 168106659]]
NM_001267609 [[168048779, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168104143, 168104274], [168106402, 168106905]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168104143, 168104159]]
NM_001267610 [[168048779, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074132], [168083693, 168083787], [168106402, 168106905]] [[168054768, 168055034], [168056822, 168056942], [168059801, 168059906], [168065745, 168066470], [168073714, 168074088]]
Promoter
Chrom Start End Description
chr1 168106064 168106082 CAGE_peak_4_at_GPR161_5end
chr1 168106133 168106154 CAGE_peak_2_at_GPR161_5end
chr1 168106155 168106196 CAGE_peak_1_at_GPR161_5end
chr1 168106668 168106677 CAGE_peak_6_at_GPR161_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I167648 167648201 167652022 1.04 [{'connected_gene': 'RCSD1', 'score': 12.1}, {'connected_gene': 'GPR161', 'score': 4.53}, {'connected_gene': 'ENSG00000241666', 'score': 0.37}, {'connected_gene': 'TRP-CGG1-1', 'score': 0.21}]
chr1 GH01I168112 168112680 168113599 0.97 [{'connected_gene': 'POU2F1', 'score': 49.26}, {'connected_gene': 'GPR161', 'score': 12.41}, {'connected_gene': 'ENSG00000272205', 'score': 10.9}, {'connected_gene': 'TBX19', 'score': 9.67}, {'connected_gene': 'GC01M168079', 'score': 0.29}]
chr1 GH01I168177 168177846 168180792 2.37 [{'connected_gene': 'TIPRL', 'score': 561.68}, {'connected_gene': 'MPZL1', 'score': 31.53}, {'connected_gene': 'POU2F1', 'score': 10.39}, {'connected_gene': 'GPR161', 'score': 7.47}, {'connected_gene': 'MPC2', 'score': 5.24}, {'connected_gene': 'RPL34P1', 'score': 0.29}, {'connected_gene': 'GC01M168113', 'score': 0.08}]
chr1 GH01I168145 168145401 168146619 0.94 [{'connected_gene': 'TIPRL', 'score': 22.58}, {'connected_gene': 'SFT2D2', 'score': 10.03}, {'connected_gene': 'MPZL1', 'score': 9.73}, {'connected_gene': 'TBX19', 'score': 9.5}, {'connected_gene': 'GPR161', 'score': 0.44}, {'connected_gene': 'GC01M168113', 'score': 0.07}]
chr1 GH01I168146 168146723 168146872 0.52 [{'connected_gene': 'TIPRL', 'score': 11.02}, {'connected_gene': 'GPR161', 'score': 0.44}, {'connected_gene': 'GC01M168113', 'score': 0.07}]
chr1 GH01I168148 168148801 168149315 0.38 [{'connected_gene': 'TIPRL', 'score': 18.09}, {'connected_gene': 'GPR161', 'score': 0.39}, {'connected_gene': 'GC01M168113', 'score': 0.07}]
chr1 GH01I168121 168121072 168122352 1.01 [{'connected_gene': 'GPR161', 'score': 550.37}, {'connected_gene': 'TBX19', 'score': 9.3}, {'connected_gene': 'MPC2', 'score': 7.87}, {'connected_gene': 'TIPRL', 'score': 4.93}, {'connected_gene': 'GC01M168079', 'score': 0.26}, {'connected_gene': 'GC01M168113', 'score': 0.06}]
chr1 GH01I168115 168115803 168117069 0.31 [{'connected_gene': 'GPR161', 'score': 12.41}, {'connected_gene': 'TBX19', 'score': 9.67}, {'connected_gene': 'GC01M168079', 'score': 0.28}, {'connected_gene': 'GC01M168113', 'score': 0.06}]
chr1 GH01I168135 168135589 168137870 1.87 [{'connected_gene': 'GPR161', 'score': 550.77}, {'connected_gene': 'TIPRL', 'score': 19.96}, {'connected_gene': 'SFT2D2', 'score': 10.47}, {'connected_gene': 'MPC2', 'score': 6.69}, {'connected_gene': 'GC01M168079', 'score': 0.22}, {'connected_gene': 'GC01M168113', 'score': 0.07}]
chr1 GH01I168091 168091999 168092505 0.31 [{'connected_gene': 'GPR161', 'score': 11.46}, {'connected_gene': 'TIPRL', 'score': 11.01}, {'connected_gene': 'GC01M168079', 'score': 0.39}]
chr1 GH01I168093 168093103 168093252 0.6 [{'connected_gene': 'GPR161', 'score': 11.48}, {'connected_gene': 'TIPRL', 'score': 11.01}, {'connected_gene': 'GC01M168079', 'score': 0.39}]
chr1 GH01I168407 168407562 168410513 1.07 [{'connected_gene': 'ENSG00000283255', 'score': 550.77}, {'connected_gene': 'MIR557', 'score': 11.49}, {'connected_gene': 'TBX19', 'score': 9.84}, {'connected_gene': 'LOC101928596', 'score': 9.54}, {'connected_gene': 'ATP1B1', 'score': 9.54}, {'connected_gene': 'RCSD1', 'score': 5.46}, {'connected_gene': 'GPR161', 'score': 4.98}, {'connected_gene': 'LOC100505918', 'score': 0.39}, {'connected_gene': 'ENSG00000228697', 'score': 0.17}]
chr1 GH01I168079 168079329 168082917 1.27 [{'connected_gene': 'GC01M168079', 'score': 550.77}, {'connected_gene': 'MPC2', 'score': 7.25}, {'connected_gene': 'SFT2D2', 'score': 1.52}, {'connected_gene': 'GPR161', 'score': 0.22}]
chr1 GH01I168084 168084802 168085200 0.84 [{'connected_gene': 'GC01M168079', 'score': 0.77}, {'connected_gene': 'GPR161', 'score': 0.23}]

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