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
ENST00000310823 [[9628614, 9630647], [9631229, 9631280], [9633026, 9633115], [9633875, 9633954], [9634765, 9634896], [9637242, 9637377], [9642301, 9642405], [9645294, 9645494], [9650107, 9650260], [9658029, 9658118], [9658231, 9658376], [9661331, 9661445], [9663377, 9663467], [9666239, 9666373], [9667914, 9668083], [9675962, 9676051], [9676826, 9676957], [9683281, 9683414], [9695637, 9695917]] [[9630305, 9630647], [9631229, 9631280], [9633026, 9633115], [9633875, 9633954], [9634765, 9634896], [9637242, 9637377], [9642301, 9642405], [9645294, 9645494], [9650107, 9650260], [9658029, 9658118], [9658231, 9658376], [9661331, 9661445], [9663377, 9663467], [9666239, 9666373], [9667914, 9668083], [9675962, 9676051], [9676826, 9676957], [9683281, 9683414], [9695637, 9695734]]
ENST00000497134 [[9661724, 9662567], [9663377, 9663467], [9666239, 9666373], [9667914, 9668083], [9675962, 9676051], [9676826, 9676957], [9683281, 9683414], [9695637, 9695921]] [[9662552, 9662567], [9663377, 9663467], [9666239, 9666373], [9667914, 9668083], [9675962, 9676051], [9676826, 9676957], [9683281, 9683414], [9695637, 9695734]]
ENST00000478059 [[9667629, 9668083], [9675962, 9676051], [9676826, 9676957], [9683281, 9683414], [9695637, 9695903]] None
NM_003183 [[9628614, 9630647], [9631229, 9631280], [9633026, 9633115], [9633875, 9633954], [9634765, 9634896], [9637242, 9637377], [9642301, 9642405], [9645294, 9645494], [9650107, 9650260], [9658029, 9658118], [9658231, 9658376], [9661331, 9661445], [9663377, 9663467], [9666239, 9666373], [9667914, 9668083], [9675962, 9676051], [9676826, 9676957], [9683281, 9683414], [9695637, 9695949]] [[9630305, 9630647], [9631229, 9631280], [9633026, 9633115], [9633875, 9633954], [9634765, 9634896], [9637242, 9637377], [9642301, 9642405], [9645294, 9645494], [9650107, 9650260], [9658029, 9658118], [9658231, 9658376], [9661331, 9661445], [9663377, 9663467], [9666239, 9666373], [9667914, 9668083], [9675962, 9676051], [9676826, 9676957], [9683281, 9683414], [9695637, 9695734]]
Promoter
Chrom Start End Description
chr2 9695686 9695710 CAGE_peak_7_at_ADAM17_5end
chr2 9695712 9695737 CAGE_peak_6_at_ADAM17_5end
chr2 9695750 9695775 CAGE_peak_4_at_ADAM17_5end
chr2 9695787 9695813 CAGE_peak_3_at_ADAM17_5end
chr2 9695820 9695831 CAGE_peak_5_at_ADAM17_5end
chr2 9695847 9695966 CAGE_peak_1_at_ADAM17_5end
chr2 9695971 9695995 CAGE_peak_2_at_ADAM17_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I009255 9255359 9264041 1.11 [{'connected_gene': 'ITGB1BP1', 'score': 15.18}, {'connected_gene': 'ASAP2', 'score': 11.09}, {'connected_gene': 'CPSF3', 'score': 10.09}, {'connected_gene': 'ENSG00000271855', 'score': 6.39}, {'connected_gene': 'ADAM17', 'score': 5.06}, {'connected_gene': 'EIF1P7', 'score': 0.39}, {'connected_gene': 'GC02M009211', 'score': 0.34}]
chr2 GH02I009264 9264201 9264800 0.51 [{'connected_gene': 'ITGB1BP1', 'score': 15.76}, {'connected_gene': 'ASAP2', 'score': 11.08}, {'connected_gene': 'CPSF3', 'score': 10.1}, {'connected_gene': 'ADAM17', 'score': 4.56}, {'connected_gene': 'EIF1P7', 'score': 0.44}, {'connected_gene': 'GC02M009211', 'score': 0.31}]
chr2 GH02I009216 9216600 9220289 0.62 [{'connected_gene': 'TAF1B', 'score': 13.32}, {'connected_gene': 'LOC101929882', 'score': 9.78}, {'connected_gene': 'ADAM17', 'score': 4.9}, {'connected_gene': 'ITGB1BP1', 'score': 4.32}, {'connected_gene': 'ASAP2', 'score': 0.39}, {'connected_gene': 'GC02M009211', 'score': 0.34}]
chr2 GH02I009267 9267864 9270725 0.2 [{'connected_gene': 'ASAP2', 'score': 18.44}, {'connected_gene': 'ITGB1BP1', 'score': 4.87}, {'connected_gene': 'ADAM17', 'score': 4.76}, {'connected_gene': 'IAH1', 'score': 4.32}, {'connected_gene': 'EIF1P7', 'score': 0.77}, {'connected_gene': 'GC02M009211', 'score': 0.31}]
chr2 GH02I009167 9167274 9169360 1.35 [{'connected_gene': 'ASAP2', 'score': 18.02}, {'connected_gene': 'ITGB1BP1', 'score': 10.38}, {'connected_gene': 'CPSF3', 'score': 10.38}, {'connected_gene': 'ADAM17', 'score': 5.59}, {'connected_gene': 'LOC105373417', 'score': 0.34}, {'connected_gene': 'LOC100506317', 'score': 0.28}]
chr2 GH02I009233 9232312 9240090 1.66 [{'connected_gene': 'ASAP2', 'score': 15.29}, {'connected_gene': 'ADAM17', 'score': 5.02}, {'connected_gene': 'ITGB1BP1', 'score': 4.65}, {'connected_gene': 'YWHAQ', 'score': 1.95}, {'connected_gene': 'GC02M009211', 'score': 0.77}]
chr2 GH02I009246 9246783 9252722 1.45 [{'connected_gene': 'ASAP2', 'score': 6.06}, {'connected_gene': 'ENSG00000271855', 'score': 5.86}, {'connected_gene': 'ADAM17', 'score': 5.07}, {'connected_gene': 'ITGB1BP1', 'score': 5.04}, {'connected_gene': 'GC02M009211', 'score': 0.39}, {'connected_gene': 'EIF1P7', 'score': 0.34}]
chr2 GH02I009226 9226601 9232114 1.03 [{'connected_gene': 'ASAP2', 'score': 11.97}, {'connected_gene': 'ADAM17', 'score': 4.99}, {'connected_gene': 'ITGB1BP1', 'score': 4.44}, {'connected_gene': 'GC02M009211', 'score': 0.39}]
chr2 GH02I009334 9334788 9337933 1.67 [{'connected_gene': 'ASAP2', 'score': 19.46}, {'connected_gene': 'ADAM17', 'score': 11.49}, {'connected_gene': 'KIDINS220', 'score': 1.24}, {'connected_gene': 'GC02M009313', 'score': 0.34}, {'connected_gene': 'CPSF3', 'score': 0.17}]
chr2 GH02I009373 9373318 9375070 0.38 [{'connected_gene': 'ASAP2', 'score': 19.68}, {'connected_gene': 'ADAM17', 'score': 7.3}, {'connected_gene': 'CPSF3', 'score': 6.62}, {'connected_gene': 'GC02M009313', 'score': 0.21}]
chr2 GH02I009177 9177497 9181029 1.28 [{'connected_gene': 'ASAP2', 'score': 16.99}, {'connected_gene': 'ADAM17', 'score': 4.82}, {'connected_gene': 'LOC100506317', 'score': 0.31}, {'connected_gene': 'LOC105373417', 'score': 0.29}]
chr2 GH02I009169 9169694 9171446 1.1 [{'connected_gene': 'ASAP2', 'score': 18.21}, {'connected_gene': 'LOC101929882', 'score': 13.42}, {'connected_gene': 'TAF1B', 'score': 12.08}, {'connected_gene': 'ITGB1BP1', 'score': 10.38}, {'connected_gene': 'CPSF3', 'score': 10.38}, {'connected_gene': 'ADAM17', 'score': 5.72}, {'connected_gene': 'LOC105373417', 'score': 0.34}, {'connected_gene': 'LOC100506317', 'score': 0.28}]
chr2 GH02I009797 9797212 9803971 1.72 [{'connected_gene': 'KLF11', 'score': 13.5}, {'connected_gene': 'ENSG00000233502', 'score': 10.65}, {'connected_gene': 'ADAM17', 'score': 10.41}, {'connected_gene': 'GRHL1', 'score': 4.56}, {'connected_gene': 'PIR61604', 'score': 0.77}, {'connected_gene': 'LOC105373421', 'score': 0.44}]
chr2 GH02I009501 9501249 9501458 0.29 [{'connected_gene': 'ADAM17', 'score': 10.43}, {'connected_gene': 'ITGB1BP1', 'score': 10.34}, {'connected_gene': 'CPSF3', 'score': 10.34}, {'connected_gene': 'IAH1', 'score': 7.37}, {'connected_gene': 'ENSG00000239300', 'score': 0.77}, {'connected_gene': 'PIR49256', 'score': 0.39}]
chr2 GH02I009211 9211121 9214128 1.14 [{'connected_gene': 'ADAM17', 'score': 5.55}, {'connected_gene': 'ASAP2', 'score': 0.44}, {'connected_gene': 'GC02M009211', 'score': 0.31}]
chr2 GH02I009225 9225094 9226524 0.2 [{'connected_gene': 'ADAM17', 'score': 5.05}, {'connected_gene': 'GC02M009211', 'score': 0.39}, {'connected_gene': 'ASAP2', 'score': 0.37}]
chr2 GH02I009546 9546928 9557411 2.64 [{'connected_gene': 'ADAM17', 'score': 579.56}, {'connected_gene': 'CPSF3', 'score': 23.02}, {'connected_gene': 'LOC101929882', 'score': 12.49}, {'connected_gene': 'TAF1B', 'score': 10.6}, {'connected_gene': 'ENSG00000239300', 'score': 10.2}, {'connected_gene': 'IAH1', 'score': 10.14}, {'connected_gene': 'ENSG00000271855', 'score': 9.91}]
chr2 GH02I009537 9537001 9540381 1.44 [{'connected_gene': 'ADAM17', 'score': 23.3}, {'connected_gene': 'IAH1', 'score': 10.04}, {'connected_gene': 'CPSF3', 'score': 9.9}, {'connected_gene': 'ENSG00000271855', 'score': 8.86}, {'connected_gene': 'ENSG00000239300', 'score': 0.29}]
chr2 GH02I009244 9244601 9245785 0.92 [{'connected_gene': 'ADAM17', 'score': 5.03}, {'connected_gene': 'GC02M009211', 'score': 0.44}, {'connected_gene': 'EIF1P7', 'score': 0.31}, {'connected_gene': 'ASAP2', 'score': 0.28}]
chr2 GH02I009644 9644337 9645614 0.64 [{'connected_gene': 'ADAM17', 'score': 10.79}, {'connected_gene': 'LOC105373418', 'score': 0.44}, {'connected_gene': 'LOC105373419', 'score': 0.37}]
chr2 GH02I009421 9421806 9425235 2.28 [{'connected_gene': 'CPSF3', 'score': 562.2}, {'connected_gene': 'ITGB1BP1', 'score': 550.77}, {'connected_gene': 'TAF1B', 'score': 13.19}, {'connected_gene': 'ENSG00000239300', 'score': 10.86}, {'connected_gene': 'IAH1', 'score': 10.78}, {'connected_gene': 'ASAP2', 'score': 10.39}, {'connected_gene': 'ADAM17', 'score': 9.57}, {'connected_gene': 'GC02M009313', 'score': 0.14}]
chr2 GH02I009439 9439772 9441028 0.38 [{'connected_gene': 'CPSF3', 'score': 10.23}, {'connected_gene': 'ADAM17', 'score': 10.19}, {'connected_gene': 'ITGB1BP1', 'score': 0.37}, {'connected_gene': 'IAH1', 'score': 0.29}]
chr2 GH02I009428 9428128 9429822 0.2 [{'connected_gene': 'IAH1', 'score': 10.81}, {'connected_gene': 'ADAM17', 'score': 10.68}, {'connected_gene': 'ITGB1BP1', 'score': 9.63}, {'connected_gene': 'ASAP2', 'score': 9.47}, {'connected_gene': 'CPSF3', 'score': 0.44}]
chr2 GH02I009473 9473467 9476395 1.87 [{'connected_gene': 'IAH1', 'score': 561.23}, {'connected_gene': 'GC02M009473', 'score': 550.77}, {'connected_gene': 'ENSG00000239300', 'score': 10.03}, {'connected_gene': 'ADAM17', 'score': 9.28}, {'connected_gene': 'PIR49256', 'score': 0.39}]
chr2 GH02I009649 9649874 9651164 0.38 [{'connected_gene': 'YWHAQ', 'score': 13.24}, {'connected_gene': 'ADAM17', 'score': 10.78}, {'connected_gene': 'LOC105373419', 'score': 0.44}, {'connected_gene': 'LOC105373418', 'score': 0.39}, {'connected_gene': 'LOC101926982', 'score': 0.37}]
chr2 GH02I009653 9653516 9659547 1.63 [{'connected_gene': 'YWHAQ', 'score': 14.75}, {'connected_gene': 'RNU4-73P', 'score': 11.34}, {'connected_gene': 'ENSG00000240960', 'score': 11.32}, {'connected_gene': 'ADAM17', 'score': 11.18}, {'connected_gene': 'LOC105373419', 'score': 0.77}, {'connected_gene': 'LOC101926982', 'score': 0.44}, {'connected_gene': 'LOC105373418', 'score': 0.37}]
chr2 GH02I009271 9271401 9271800 0.91 [{'connected_gene': 'EIF1P7', 'score': 550.77}, {'connected_gene': 'ASAP2', 'score': 11.06}, {'connected_gene': 'ITGB1BP1', 'score': 5.63}, {'connected_gene': 'ADAM17', 'score': 4.52}, {'connected_gene': 'GC02M009211', 'score': 0.29}]
chr2 GH02I009763 9763232 9769121 1.54 [{'connected_gene': 'RNU4-73P', 'score': 12.23}, {'connected_gene': 'ENSG00000233502', 'score': 10.83}, {'connected_gene': 'LOC100996549', 'score': 6.77}, {'connected_gene': 'ENSG00000257135', 'score': 5.45}, {'connected_gene': 'LOC101929882', 'score': 5.39}, {'connected_gene': 'ADAM17', 'score': 5.02}, {'connected_gene': 'YWHAQ', 'score': 4.8}, {'connected_gene': 'LOC105373420', 'score': 0.39}]
chr2 GH02I009752 9752305 9754816 1.64 [{'connected_gene': 'LOC105373420', 'score': 550.77}, {'connected_gene': 'ADAM17', 'score': 17.51}, {'connected_gene': 'LOC100996549', 'score': 6.49}, {'connected_gene': 'YWHAQ', 'score': 6.42}, {'connected_gene': 'IAH1', 'score': 5.08}, {'connected_gene': 'KLF11', 'score': 2.0}, {'connected_gene': 'GRHL1', 'score': 1.98}]
chr2 GH02I009660 9660543 9661733 0.46 [{'connected_gene': 'LOC105373419', 'score': 550.77}, {'connected_gene': 'RNU4-73P', 'score': 11.32}, {'connected_gene': 'ENSG00000240960', 'score': 11.3}, {'connected_gene': 'ADAM17', 'score': 10.94}, {'connected_gene': 'LOC101926982', 'score': 0.77}]
chr2 GH02I009221 9221916 9223241 0.38 [{'connected_gene': 'LOC101929882', 'score': 13.42}, {'connected_gene': 'TAF1B', 'score': 11.97}, {'connected_gene': 'ITGB1BP1', 'score': 10.29}, {'connected_gene': 'CPSF3', 'score': 10.29}, {'connected_gene': 'ENSG00000239300', 'score': 10.01}, {'connected_gene': 'ADAM17', 'score': 5.08}, {'connected_gene': 'GC02M009211', 'score': 0.37}, {'connected_gene': 'ASAP2', 'score': 0.37}]
chr2 GH02I009518 9518903 9520121 0.38 [{'connected_gene': 'LOC101929882', 'score': 13.01}, {'connected_gene': 'ADAM17', 'score': 11.27}, {'connected_gene': 'KLF11', 'score': 11.0}, {'connected_gene': 'CPSF3', 'score': 9.5}, {'connected_gene': 'ENSG00000239300', 'score': 0.39}]
chr2 GH02I009543 9543401 9543600 0.2 [{'connected_gene': 'ENSG00000271855', 'score': 8.75}, {'connected_gene': 'ADAM17', 'score': 0.39}, {'connected_gene': 'ENSG00000239300', 'score': 0.28}]
chr2 GH02I009738 9738017 9740069 1.29 [{'connected_gene': 'GC02M009741', 'score': 550.77}, {'connected_gene': 'RNU4-73P', 'score': 550.77}, {'connected_gene': 'ADAM17', 'score': 13.79}, {'connected_gene': 'LOC100996549', 'score': 8.36}, {'connected_gene': 'YWHAQ', 'score': 6.8}, {'connected_gene': 'KLF11', 'score': 1.23}, {'connected_gene': 'ENSG00000244260', 'score': 0.2}]
chr2 GH02I010037 10037651 10037858 0.45 [{'connected_gene': 'PIR54840', 'score': 550.77}, {'connected_gene': 'LOC101929882', 'score': 6.25}, {'connected_gene': 'ADAM17', 'score': 5.08}, {'connected_gene': 'ENSG00000260476', 'score': 0.37}]

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