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
ENST00000218758 [[11685474, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132], [11688407, 11688494], [11689399, 11689472], [11689658, 11689800]] [[11685824, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132]]
ENST00000412435 [[11685505, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132], [11688407, 11688494], [11689658, 11689801]] [[11685824, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132]]
ENST00000592828 [[11685506, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132], [11688407, 11688494], [11689399, 11689579], [11689658, 11689794]] [[11685824, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132]]
ENST00000433365 [[11685554, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132], [11688407, 11688556]] [[11685824, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132]]
ENST00000590420 [[11685814, 11686021], [11688078, 11688132], [11688407, 11688447]] [[11685895, 11686021], [11688078, 11688132]]
ENST00000588625 [[11687193, 11687403], [11687530, 11687758]] None
ENST00000588524 [[11687414, 11688132], [11688407, 11688494], [11689399, 11689472], [11689658, 11689791]] None
ENST00000590832 [[11687546, 11687658], [11687871, 11688342]] [[11687546, 11687658], [11687871, 11688132]]
ENST00000588079 [[11687656, 11688132], [11688407, 11688515]] None
ENST00000589792 [[11687908, 11688132], [11688407, 11688494], [11688890, 11688951]] [[11687908, 11688132]]
ENST00000591319 [[11687974, 11688132], [11688407, 11688494], [11688838, 11689009], [11689658, 11689823]] [[11687974, 11688132]]
ENST00000592659 [[11688115, 11688132], [11688407, 11689009], [11689399, 11689472], [11689658, 11689769]] [[11688115, 11688132]]
NM_001611 [[11685474, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132], [11688407, 11688556]] [[11685824, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132]]
NM_001322023 [[11685474, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132], [11688407, 11688494], [11688838, 11689009]] [[11685824, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132]]
NM_001111034 [[11685474, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132], [11688407, 11688494], [11689399, 11689595]] [[11685824, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132]]
NM_001111035 [[11685474, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132], [11688407, 11688494], [11689399, 11689472], [11689658, 11689823]] [[11685824, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132]]
NM_001111036 [[11685474, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132], [11688407, 11688494], [11689658, 11689823]] [[11685824, 11686067], [11687057, 11687403], [11687530, 11687658], [11687871, 11688132]]
Promoter
Chrom Start End Description
chr19 11687914 11687926 CAGE_peak_10_at_ACP5_5end
chr19 11688260 11688269 CAGE_peak_14_at_ACP5_5end
chr19 11688452 11688486 CAGE_peak_1_at_ACP5_5end
chr19 11688500 11688523 CAGE_peak_3_at_ACP5_5end
chr19 11689518 11689533 CAGE_peak_9_at_ACP5_5end
chr19 11689547 11689564 CAGE_peak_6_at_ACP5_5end
chr19 11689583 11689611 CAGE_peak_8_at_ACP5_5end
chr19 11689703 11689718 CAGE_peak_4_at_ACP5_5end
chr19 11689732 11689743 CAGE_peak_7_at_ACP5_5end
chr19 11689752 11689799 CAGE_peak_2_at_ACP5_5end
chr19 11689803 11689815 CAGE_peak_5_at_ACP5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I011557 11557941 11561181 2.34 [{'connected_gene': 'ELOF1', 'score': 556.5}, {'connected_gene': 'ZNF627', 'score': 550.77}, {'connected_gene': 'PRKCSH', 'score': 13.5}, {'connected_gene': 'ZNF700', 'score': 13.08}, {'connected_gene': 'ZNF136', 'score': 12.24}, {'connected_gene': 'ZNF799', 'score': 11.9}, {'connected_gene': 'ZNF564', 'score': 11.8}, {'connected_gene': 'KRI1', 'score': 11.51}, {'connected_gene': 'ZNF20', 'score': 10.73}, {'connected_gene': 'ZNF44', 'score': 10.2}, {'connected_gene': 'ILF3', 'score': 10.16}, {'connected_gene': 'CCDC159', 'score': 6.56}, {'connected_gene': 'ACP5', 'score': 4.74}, {'connected_gene': 'LDLR', 'score': 1.7}, {'connected_gene': 'GC19P011561', 'score': 0.77}, {'connected_gene': 'GC19M011558', 'score': 0.77}]
chr19 GH19I011666 11666401 11667200 0.5 [{'connected_gene': 'HNRNPA1P10', 'score': 550.77}, {'connected_gene': 'ACP5', 'score': 7.07}, {'connected_gene': 'PIR37876', 'score': 0.77}, {'connected_gene': 'ENSG00000197332', 'score': 0.31}]
chr19 GH19I010593 10593339 10594894 1.09 [{'connected_gene': 'KRI1', 'score': 42.74}, {'connected_gene': 'CDKN2D', 'score': 27.65}, {'connected_gene': 'ILF3', 'score': 27.57}, {'connected_gene': 'ZNF561', 'score': 20.88}, {'connected_gene': 'EIF3G', 'score': 20.31}, {'connected_gene': 'TIMM29', 'score': 14.83}, {'connected_gene': 'PPAN', 'score': 13.9}, {'connected_gene': 'ZNF627', 'score': 13.68}, {'connected_gene': 'RAVER1', 'score': 13.67}, {'connected_gene': 'SWSAP1', 'score': 11.81}, {'connected_gene': 'FBXL12', 'score': 11.61}, {'connected_gene': 'ATG4D', 'score': 11.51}, {'connected_gene': 'DNM2', 'score': 10.72}, {'connected_gene': 'LOC100419831', 'score': 10.67}, {'connected_gene': 'ZNF846', 'score': 9.96}, {'connected_gene': 'ACP5', 'score': 9.93}, {'connected_gene': 'LOC100820734', 'score': 0.77}, {'connected_gene': 'AP1M2', 'score': 0.44}]
chr19 GH19I011623 11623668 11625433 0.88 [{'connected_gene': 'ZNF823', 'score': 11.17}, {'connected_gene': 'ACP5', 'score': 7.42}, {'connected_gene': 'VN2R12P', 'score': 0.77}, {'connected_gene': 'ENSG00000197332', 'score': 0.37}]
chr19 GH19I011691 11691932 11692342 0.56 [{'connected_gene': 'ZNF823', 'score': 12.15}, {'connected_gene': 'ZNF441', 'score': 11.37}, {'connected_gene': 'ACP5', 'score': 4.92}, {'connected_gene': 'GC19P011691', 'score': 0.77}, {'connected_gene': 'GC19M011701', 'score': 0.77}]
chr19 GH19I011736 11736226 11737136 0.85 [{'connected_gene': 'ACP5', 'score': 6.18}, {'connected_gene': 'ZNF823', 'score': 0.77}, {'connected_gene': 'ENSG00000266922', 'score': 0.44}, {'connected_gene': 'GC19M011730', 'score': 0.23}]
chr19 GH19I011577 11577154 11584541 2.51 [{'connected_gene': 'ACP5', 'score': 581.18}, {'connected_gene': 'ILF3', 'score': 16.86}, {'connected_gene': 'ZNF564', 'score': 15.73}, {'connected_gene': 'ZNF700', 'score': 15.49}, {'connected_gene': 'ZNF136', 'score': 14.14}, {'connected_gene': 'ZNF44', 'score': 13.04}, {'connected_gene': 'ZNF878', 'score': 12.2}, {'connected_gene': 'HNRNPA1P10', 'score': 11.52}, {'connected_gene': 'ZNF442', 'score': 11.27}, {'connected_gene': 'ZNF799', 'score': 11.02}, {'connected_gene': 'PRKCSH', 'score': 10.72}, {'connected_gene': 'ZNF627', 'score': 10.3}, {'connected_gene': 'ZNF823', 'score': 9.89}, {'connected_gene': 'CCDC159', 'score': 8.0}, {'connected_gene': 'GC19P011584', 'score': 0.77}, {'connected_gene': 'GC19M011582', 'score': 0.44}]
chr19 GH19I011574 11574266 11575226 0.59 [{'connected_gene': 'ACP5', 'score': 9.38}, {'connected_gene': 'GC19M011558', 'score': 0.39}, {'connected_gene': 'ZNF627', 'score': 0.37}]
chr19 GH19I011576 11576001 11576800 0.2 [{'connected_gene': 'ACP5', 'score': 9.33}, {'connected_gene': 'GC19M011558', 'score': 0.39}, {'connected_gene': 'ZNF627', 'score': 0.37}]
chr19 GH19I011569 11569901 11570744 0.95 [{'connected_gene': 'ACP5', 'score': 16.12}, {'connected_gene': 'CCDC159', 'score': 2.36}, {'connected_gene': 'GC19M011558', 'score': 0.44}, {'connected_gene': 'ZNF627', 'score': 0.39}]
chr19 GH19I011086 11086851 11097889 2.65 [{'connected_gene': 'LDLR', 'score': 553.43}, {'connected_gene': 'ILF3', 'score': 44.17}, {'connected_gene': 'RAVER1', 'score': 36.96}, {'connected_gene': 'ZNF491', 'score': 34.6}, {'connected_gene': 'ZNF441', 'score': 29.82}, {'connected_gene': 'KRI1', 'score': 25.84}, {'connected_gene': 'ZNF700', 'score': 25.51}, {'connected_gene': 'ZNF844', 'score': 23.61}, {'connected_gene': 'ZNF627', 'score': 20.82}, {'connected_gene': 'PPAN', 'score': 20.63}, {'connected_gene': 'DNMT1', 'score': 17.96}, {'connected_gene': 'CDC37', 'score': 15.06}, {'connected_gene': 'PRKCSH', 'score': 13.42}, {'connected_gene': 'ZNF823', 'score': 13.38}, {'connected_gene': 'ZNF878', 'score': 12.72}, {'connected_gene': 'ZNF788', 'score': 12.68}, {'connected_gene': 'SWSAP1', 'score': 12.25}, {'connected_gene': 'C19orf38', 'score': 11.84}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'ZNF887P', 'score': 11.15}, {'connected_gene': 'EIF3G', 'score': 10.42}, {'connected_gene': 'TYK2', 'score': 9.93}, {'connected_gene': 'QTRT1', 'score': 9.76}, {'connected_gene': 'RPL18AP13', 'score': 9.67}, {'connected_gene': 'ZNF763', 'score': 9.66}, {'connected_gene': 'CCDC159', 'score': 9.42}, {'connected_gene': 'SPC24', 'score': 4.64}, {'connected_gene': 'DNM2', 'score': 2.21}, {'connected_gene': 'ACP5', 'score': 1.95}, {'connected_gene': 'GC19M011086', 'score': 0.77}, {'connected_gene': 'MIR6886', 'score': 0.34}]
chr19 GH19I011293 11293365 11294620 1.52 [{'connected_gene': 'ILF3', 'score': 54.09}, {'connected_gene': 'ENSG00000267174', 'score': 47.68}, {'connected_gene': 'KRI1', 'score': 41.84}, {'connected_gene': 'ZNF136', 'score': 39.14}, {'connected_gene': 'RAVER1', 'score': 29.1}, {'connected_gene': 'ZNF627', 'score': 27.83}, {'connected_gene': 'ZNF700', 'score': 27.07}, {'connected_gene': 'CDC37', 'score': 26.02}, {'connected_gene': 'ZNF844', 'score': 19.82}, {'connected_gene': 'ZNF823', 'score': 13.39}, {'connected_gene': 'ZNF763', 'score': 13.03}, {'connected_gene': 'ZNF878', 'score': 12.75}, {'connected_gene': 'ZNF625', 'score': 12.66}, {'connected_gene': 'ZNF491', 'score': 12.32}, {'connected_gene': 'ZNF439', 'score': 11.63}, {'connected_gene': 'ZNF20', 'score': 11.59}, {'connected_gene': 'ZNF887P', 'score': 11.17}, {'connected_gene': 'PRKCSH', 'score': 11.08}, {'connected_gene': 'ZNF441', 'score': 10.79}, {'connected_gene': 'SWSAP1', 'score': 10.59}, {'connected_gene': 'RPL28P5', 'score': 10.46}, {'connected_gene': 'TYK2', 'score': 10.41}, {'connected_gene': 'ZNF433-AS1', 'score': 10.02}, {'connected_gene': 'ATG4D', 'score': 9.76}, {'connected_gene': 'QTRT1', 'score': 9.73}, {'connected_gene': 'ENSG00000242615', 'score': 9.73}, {'connected_gene': 'RPL18AP13', 'score': 9.7}, {'connected_gene': 'PLPPR2', 'score': 8.03}, {'connected_gene': 'EPOR', 'score': 6.92}, {'connected_gene': 'DOCK6', 'score': 5.8}, {'connected_gene': 'CCDC159', 'score': 4.31}, {'connected_gene': 'C19orf38', 'score': 3.43}, {'connected_gene': 'ACP5', 'score': 1.5}, {'connected_gene': 'TSPAN16', 'score': 0.77}]
chr19 GH19I011596 11596259 11598742 2.09 [{'connected_gene': 'ZNF627', 'score': 595.32}, {'connected_gene': 'ZNF136', 'score': 56.28}, {'connected_gene': 'ZNF20', 'score': 42.49}, {'connected_gene': 'ZNF564', 'score': 36.99}, {'connected_gene': 'ZNF700', 'score': 36.04}, {'connected_gene': 'ZNF44', 'score': 33.53}, {'connected_gene': 'ILF3', 'score': 33.03}, {'connected_gene': 'ZNF799', 'score': 32.58}, {'connected_gene': 'ZNF763', 'score': 27.42}, {'connected_gene': 'PRKCSH', 'score': 26.57}, {'connected_gene': 'ZNF439', 'score': 22.14}, {'connected_gene': 'ZNF442', 'score': 20.76}, {'connected_gene': 'ZNF844', 'score': 19.19}, {'connected_gene': 'HNRNPA1P10', 'score': 18.92}, {'connected_gene': 'ENSG00000242615', 'score': 18.22}, {'connected_gene': 'ZNF788', 'score': 14.38}, {'connected_gene': 'ZNF878', 'score': 13.84}, {'connected_gene': 'ZNF491', 'score': 12.89}, {'connected_gene': 'ZNF441', 'score': 12.59}, {'connected_gene': 'ACP5', 'score': 12.48}, {'connected_gene': 'ZNF433-AS1', 'score': 12.04}, {'connected_gene': 'ZNF709', 'score': 11.95}, {'connected_gene': 'ZNF625', 'score': 11.86}, {'connected_gene': 'SWSAP1', 'score': 10.88}, {'connected_gene': 'RPL28P5', 'score': 10.69}, {'connected_gene': 'ZNF440', 'score': 9.75}, {'connected_gene': 'GC19M011582', 'score': 0.39}, {'connected_gene': 'VN2R12P', 'score': 0.34}]
chr19 GH19I011567 11567201 11569327 1.43 [{'connected_gene': 'CCDC159', 'score': 11.26}, {'connected_gene': 'ACP5', 'score': 9.45}, {'connected_gene': 'ELOF1', 'score': 4.46}, {'connected_gene': 'GC19M011558', 'score': 0.77}, {'connected_gene': 'ZNF627', 'score': 0.44}]
chr19 GH19I011564 11564516 11565977 1.2 [{'connected_gene': 'GC19M011558', 'score': 550.77}, {'connected_gene': 'ACP5', 'score': 10.08}, {'connected_gene': 'ZNF439', 'score': 9.21}, {'connected_gene': 'CCDC159', 'score': 6.85}, {'connected_gene': 'ELOF1', 'score': 5.08}, {'connected_gene': 'GC19P011561', 'score': 0.77}, {'connected_gene': 'ZNF627', 'score': 0.44}]
chr19 GH19I011639 11639126 11640955 1.49 [{'connected_gene': 'ENSG00000197332', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 56.29}, {'connected_gene': 'ZNF44', 'score': 53.55}, {'connected_gene': 'ZNF20', 'score': 51.49}, {'connected_gene': 'ZNF763', 'score': 42.86}, {'connected_gene': 'ZNF564', 'score': 37.85}, {'connected_gene': 'ZNF700', 'score': 36.91}, {'connected_gene': 'ZNF136', 'score': 36.57}, {'connected_gene': 'ZNF878', 'score': 34.73}, {'connected_gene': 'ZNF627', 'score': 34.19}, {'connected_gene': 'ZNF799', 'score': 32.15}, {'connected_gene': 'TIMM29', 'score': 22.7}, {'connected_gene': 'PRKCSH', 'score': 22.01}, {'connected_gene': 'ZNF433-AS1', 'score': 21.48}, {'connected_gene': 'ZNF439', 'score': 21.35}, {'connected_gene': 'SWSAP1', 'score': 21.32}, {'connected_gene': 'ZNF791', 'score': 12.63}, {'connected_gene': 'ZNF823', 'score': 11.05}, {'connected_gene': 'CARM1', 'score': 10.89}, {'connected_gene': 'ZNF433', 'score': 10.86}, {'connected_gene': 'ZNF443', 'score': 10.74}, {'connected_gene': 'SMARCA4', 'score': 10.6}, {'connected_gene': 'ZNF563', 'score': 10.17}, {'connected_gene': 'HNRNPA1P10', 'score': 10.08}, {'connected_gene': 'ZNF844', 'score': 9.94}, {'connected_gene': 'ZNF625', 'score': 9.81}, {'connected_gene': 'ENSG00000242615', 'score': 9.74}, {'connected_gene': 'ACP5', 'score': 7.2}, {'connected_gene': 'RGL3', 'score': 4.65}, {'connected_gene': 'ZNF887P', 'score': 0.44}]
chr19 GH19I011566 11566201 11566800 0.54 [{'connected_gene': 'GC19M011558', 'score': 0.77}, {'connected_gene': 'ZNF627', 'score': 0.44}, {'connected_gene': 'ACP5', 'score': 0.39}]
chr19 GH19I011587 11587569 11588199 0.94 [{'connected_gene': 'GC19M011582', 'score': 550.77}, {'connected_gene': 'ZNF564', 'score': 21.46}, {'connected_gene': 'ILF3', 'score': 18.57}, {'connected_gene': 'ZNF700', 'score': 16.62}, {'connected_gene': 'ZNF44', 'score': 15.33}, {'connected_gene': 'ZNF799', 'score': 14.74}, {'connected_gene': 'ZNF136', 'score': 14.39}, {'connected_gene': 'PRKCSH', 'score': 13.82}, {'connected_gene': 'HNRNPA1P10', 'score': 12.48}, {'connected_gene': 'ZNF627', 'score': 11.97}, {'connected_gene': 'ZNF442', 'score': 11.34}, {'connected_gene': 'ZNF763', 'score': 10.88}, {'connected_gene': 'ZNF878', 'score': 10.72}, {'connected_gene': 'ACP5', 'score': 9.62}, {'connected_gene': 'GC19P011584', 'score': 0.77}, {'connected_gene': 'VN2R12P', 'score': 0.29}]
chr19 GH19I011693 11693507 11695615 1.45 [{'connected_gene': 'GC19M011701', 'score': 550.77}, {'connected_gene': 'ZNF441', 'score': 24.86}, {'connected_gene': 'ZNF439', 'score': 20.55}, {'connected_gene': 'ZNF709', 'score': 16.62}, {'connected_gene': 'ZNF136', 'score': 15.81}, {'connected_gene': 'ZNF763', 'score': 13.65}, {'connected_gene': 'ZNF823', 'score': 13.41}, {'connected_gene': 'ZNF788', 'score': 12.95}, {'connected_gene': 'WDR83', 'score': 12.56}, {'connected_gene': 'ZNF20', 'score': 12.21}, {'connected_gene': 'ENSG00000242615', 'score': 12.15}, {'connected_gene': 'ZNF627', 'score': 11.79}, {'connected_gene': 'ZNF44', 'score': 11.76}, {'connected_gene': 'ZNF799', 'score': 11.55}, {'connected_gene': 'ZNF564', 'score': 11.21}, {'connected_gene': 'ZNF625', 'score': 9.83}, {'connected_gene': 'ACP5', 'score': 5.48}, {'connected_gene': 'ECSIT', 'score': 4.25}, {'connected_gene': 'ZNF491', 'score': 1.71}, {'connected_gene': 'ZNF878', 'score': 1.67}, {'connected_gene': 'GC19P011691', 'score': 0.44}]

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