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
ENST00000435504 [[25956621, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982514], [25990451, 25990595], [25991610, 25991737], [25994308, 25994409], [26022253, 26022404], [26029097, 26029206], [26058406, 26058409], [26068349, 26068432], [26101034, 26101385]] [[25964897, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982514], [25990451, 25990595], [25991610, 25991737], [25994308, 25994409], [26022253, 26022404], [26029097, 26029206], [26058406, 26058409], [26068349, 26068432], [26101034, 26101091]]
ENST00000336112 [[25960560, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982514], [25990451, 25990595], [25991610, 25991737], [25994308, 25994409], [26022253, 26022404], [26029097, 26029209], [26068349, 26068432], [26101034, 26101335]] [[25964897, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982514], [25990451, 25990595], [25991610, 25991737], [25994308, 25994409], [26022253, 26022404], [26029097, 26029209], [26068349, 26068405]]
ENST00000272341 [[25964897, 25965925], [25966696, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982514], [25990451, 25990595], [25991610, 25991737], [25994308, 25994409], [26022253, 26022404], [26029097, 26029209], [26068349, 26068432], [26101034, 26101335]] [[25964897, 25965925], [25966696, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982509]]
ENST00000404843 [[25964793, 25965925], [25966696, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982514], [25990451, 25990595], [25991610, 25991737], [25994308, 25994409], [26003117, 26003178]] [[25964897, 25965925], [25966696, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982509]]
ENST00000497092 [[25991630, 25991737], [25994308, 25994409], [26022253, 26022404], [26029097, 26029206], [26053679, 26053760]] None
NM_018263 [[25962252, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982514], [25990451, 25990595], [25991610, 25991737], [25994308, 25994409], [26022253, 26022404], [26029097, 26029206], [26068159, 26068162], [26068349, 26068432], [26101034, 26101312]] [[25964897, 25967345], [25972564, 25973282], [25976402, 25976508], [25978886, 25978983], [25982350, 25982514], [25990451, 25990595], [25991610, 25991737], [25994308, 25994409], [26022253, 26022404], [26029097, 26029206], [26068159, 26068162], [26068349, 26068432], [26101034, 26101091]]
Promoter
Chrom Start End Description
chr2 26101185 26101202 CAGE_peak_2_at_ASXL2_5end
chr2 26101314 26101363 CAGE_peak_1_at_ASXL2_5end
chr2 26101374 26101389 CAGE_peak_3_at_ASXL2_5end
chr2 26101458 26101469 CAGE_peak_5_at_ASXL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I026766 26766601 26773416 1.73 [{'connected_gene': 'SNX17', 'score': 19.31}, {'connected_gene': 'GTF3C2', 'score': 17.0}, {'connected_gene': 'NRBP1', 'score': 16.4}, {'connected_gene': 'TMEM214', 'score': 12.69}, {'connected_gene': 'ASXL2', 'score': 12.43}, {'connected_gene': 'CAD', 'score': 12.36}, {'connected_gene': 'LOC105374363', 'score': 12.12}, {'connected_gene': 'GPN1', 'score': 12.0}, {'connected_gene': 'KHK', 'score': 11.87}, {'connected_gene': 'DPYSL5', 'score': 10.22}, {'connected_gene': 'ATRAID', 'score': 9.73}, {'connected_gene': 'EIF2B4', 'score': 9.68}, {'connected_gene': 'MAPRE3', 'score': 9.31}, {'connected_gene': 'ADGRF3', 'score': 2.01}, {'connected_gene': 'CENPA', 'score': 0.44}, {'connected_gene': 'SLC35F6', 'score': 0.44}, {'connected_gene': 'CDKN2AIPNLP2', 'score': 0.22}]
chr2 GH02I026754 26754513 26760305 1.75 [{'connected_gene': 'EIF2B4', 'score': 23.15}, {'connected_gene': 'GPN1', 'score': 20.06}, {'connected_gene': 'CAD', 'score': 15.87}, {'connected_gene': 'LOC105374363', 'score': 14.38}, {'connected_gene': 'GTF3C2', 'score': 11.98}, {'connected_gene': 'NRBP1', 'score': 11.96}, {'connected_gene': 'TMEM214', 'score': 11.87}, {'connected_gene': 'KCNK3', 'score': 11.31}, {'connected_gene': 'KHK', 'score': 10.9}, {'connected_gene': 'SUPT7L', 'score': 10.66}, {'connected_gene': 'ZNF512', 'score': 10.14}, {'connected_gene': 'ASXL2', 'score': 9.66}, {'connected_gene': 'SLC35F6', 'score': 1.75}, {'connected_gene': 'GC02P026705', 'score': 0.23}]
chr2 GH02I026354 26354178 26357931 1.41 [{'connected_gene': 'CAD', 'score': 12.03}, {'connected_gene': 'ADGRF3', 'score': 11.71}, {'connected_gene': 'ASXL2', 'score': 10.43}, {'connected_gene': 'SELENOI', 'score': 5.95}, {'connected_gene': 'GC02M026396', 'score': 0.26}]
chr2 GH02I025128 25128917 25129881 1.13 [{'connected_gene': 'ASXL2', 'score': 14.09}, {'connected_gene': 'ENSG00000271936', 'score': 10.09}, {'connected_gene': 'POMC', 'score': 6.55}, {'connected_gene': 'EFR3B', 'score': 4.63}, {'connected_gene': 'RPS2P15', 'score': 4.17}, {'connected_gene': 'DNMT3A', 'score': 2.78}, {'connected_gene': 'DNAJC27', 'score': 1.16}, {'connected_gene': 'PIR39938', 'score': 0.44}, {'connected_gene': 'GC02P025140', 'score': 0.44}, {'connected_gene': 'SUCLA2P3', 'score': 0.25}, {'connected_gene': 'GC02M025128', 'score': 0.13}]
chr2 GH02I025876 25876916 25879787 2.09 [{'connected_gene': 'ASXL2', 'score': 550.77}, {'connected_gene': 'KIF3C', 'score': 19.3}, {'connected_gene': 'DTNB', 'score': 4.64}, {'connected_gene': 'GC02M025821', 'score': 0.39}]
chr2 GH02I024970 24970449 24974021 2.3 [{'connected_gene': 'DNAJC27', 'score': 557.15}, {'connected_gene': 'DNAJC27-AS1', 'score': 550.77}, {'connected_gene': 'ADCY3', 'score': 37.72}, {'connected_gene': 'ASXL2', 'score': 14.78}, {'connected_gene': 'WDCP', 'score': 11.46}, {'connected_gene': 'EFR3B', 'score': 11.4}, {'connected_gene': 'LINC01381', 'score': 11.08}, {'connected_gene': 'POMC', 'score': 10.81}, {'connected_gene': 'PTRHD1', 'score': 6.48}, {'connected_gene': 'ENSG00000207069', 'score': 0.28}, {'connected_gene': 'GC02M025008', 'score': 0.28}]
chr2 GH02I026272 26272686 26275856 1.31 [{'connected_gene': 'HADHA', 'score': 11.69}, {'connected_gene': 'ASXL2', 'score': 9.68}, {'connected_gene': 'HADHB', 'score': 8.9}, {'connected_gene': 'GAREM2', 'score': 7.5}, {'connected_gene': 'LOC105374334', 'score': 0.34}, {'connected_gene': 'GC02P026059', 'score': 0.08}]
chr2 GH02I026242 26242047 26247582 2.3 [{'connected_gene': 'HADHA', 'score': 562.71}, {'connected_gene': 'HADHB', 'score': 550.77}, {'connected_gene': 'CAD', 'score': 36.2}, {'connected_gene': 'TMEM214', 'score': 22.21}, {'connected_gene': 'DNMT3A', 'score': 21.86}, {'connected_gene': 'ASXL2', 'score': 15.51}, {'connected_gene': 'ATRAID', 'score': 12.26}, {'connected_gene': 'RPS2P15', 'score': 9.93}, {'connected_gene': 'GAREM2', 'score': 9.61}, {'connected_gene': 'LOC105374334', 'score': 0.23}, {'connected_gene': 'GC02P026059', 'score': 0.09}]
chr2 GH02I026362 26362790 26364097 0.9 [{'connected_gene': 'GTF3C2', 'score': 20.49}, {'connected_gene': 'HADHB', 'score': 15.82}, {'connected_gene': 'CAD', 'score': 15.61}, {'connected_gene': 'LOC105374363', 'score': 14.34}, {'connected_gene': 'TMEM214', 'score': 13.03}, {'connected_gene': 'ADGRF3', 'score': 11.66}, {'connected_gene': 'ASXL2', 'score': 11.44}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.63}, {'connected_gene': 'HADHA', 'score': 10.47}, {'connected_gene': 'RPS2P15', 'score': 9.85}, {'connected_gene': 'GC02M026396', 'score': 0.29}, {'connected_gene': 'SELENOI', 'score': 0.23}]
chr2 GH02I025808 25808001 25808426 0.31 [{'connected_gene': 'EFR3B', 'score': 4.68}, {'connected_gene': 'GC02M025809', 'score': 0.77}, {'connected_gene': 'ASXL2', 'score': 0.19}, {'connected_gene': 'LOC105374332', 'score': 0.18}]
chr2 GH02I025883 25883097 25883741 0.79 [{'connected_gene': 'EFR3B', 'score': 4.29}, {'connected_gene': 'NDUFB4P4', 'score': 0.77}, {'connected_gene': 'ASXL2', 'score': 0.77}]
chr2 GH02I025829 25829801 25830000 0.46 [{'connected_gene': 'DTNB', 'score': 10.97}, {'connected_gene': 'ASXL2', 'score': 7.08}, {'connected_gene': 'GC02P025824', 'score': 0.44}, {'connected_gene': 'ENSG00000218682', 'score': 0.31}, {'connected_gene': 'GC02M025821', 'score': 0.28}]
chr2 GH02I025793 25793262 25795966 0.83 [{'connected_gene': 'DTNB', 'score': 10.66}, {'connected_gene': 'KIF3C', 'score': 7.13}, {'connected_gene': 'ASXL2', 'score': 7.01}, {'connected_gene': 'EFR3B', 'score': 4.19}, {'connected_gene': 'GC02M025809', 'score': 0.37}, {'connected_gene': 'LOC105374332', 'score': 0.2}]
chr2 GH02I025851 25851449 25853720 1.19 [{'connected_gene': 'DTNB', 'score': 14.28}, {'connected_gene': 'KIF3C', 'score': 7.68}, {'connected_gene': 'ASXL2', 'score': 7.14}, {'connected_gene': 'ENSG00000218682', 'score': 0.77}, {'connected_gene': 'GC02M025821', 'score': 0.39}, {'connected_gene': 'GC02P025824', 'score': 0.29}]
chr2 GH02I025743 25743037 25744322 0.58 [{'connected_gene': 'DTNB', 'score': 10.96}, {'connected_gene': 'LOC105374332', 'score': 0.37}, {'connected_gene': 'GC02M025809', 'score': 0.2}, {'connected_gene': 'ASXL2', 'score': 0.12}]
chr2 GH02I025338 25338908 25343141 2.23 [{'connected_gene': 'DNMT3A', 'score': 550.77}, {'connected_gene': 'GC02P025342', 'score': 550.77}, {'connected_gene': 'ASXL2', 'score': 9.88}, {'connected_gene': 'MIR1301', 'score': 0.39}]
chr2 GH02I026342 26342621 26348918 2.32 [{'connected_gene': 'ADGRF3', 'score': 561.71}, {'connected_gene': 'SELENOI', 'score': 559.44}, {'connected_gene': 'CAD', 'score': 47.42}, {'connected_gene': 'ASXL2', 'score': 25.4}, {'connected_gene': 'TMEM214', 'score': 25.06}, {'connected_gene': 'GTF3C2-AS1', 'score': 16.15}, {'connected_gene': 'ENSG00000272148', 'score': 14.03}, {'connected_gene': 'AGBL5', 'score': 13.28}, {'connected_gene': 'KIF3C', 'score': 13.11}, {'connected_gene': 'GAREM2', 'score': 12.19}, {'connected_gene': 'AGBL5-IT1', 'score': 11.41}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'SLC35F6', 'score': 10.05}, {'connected_gene': 'ATRAID', 'score': 9.71}, {'connected_gene': 'HADHB', 'score': 5.01}, {'connected_gene': 'GC02M026310', 'score': 0.29}]
chr2 GH02I025999 25999803 26003999 1.52 [{'connected_gene': 'RAB10', 'score': 16.67}, {'connected_gene': 'RNU6-942P', 'score': 12.23}, {'connected_gene': 'ASXL2', 'score': 10.64}, {'connected_gene': 'DNMT3A', 'score': 9.93}, {'connected_gene': 'GAREM2', 'score': 6.01}, {'connected_gene': 'GC02P025994', 'score': 0.44}, {'connected_gene': 'GC02M025991', 'score': 0.31}, {'connected_gene': 'TRMT112P6', 'score': 0.31}]
chr2 GH02I025885 25885572 25885606 0.31 [{'connected_gene': 'NDUFB4P4', 'score': 550.77}, {'connected_gene': 'ASXL2', 'score': 0.44}]
chr2 GH02I025886 25886032 25886221 0.8 [{'connected_gene': 'NDUFB4P4', 'score': 550.77}, {'connected_gene': 'ASXL2', 'score': 0.44}]
chr2 GH02I026717 26717182 26727327 1.91 [{'connected_gene': 'CENPA', 'score': 20.77}, {'connected_gene': 'EIF2B4', 'score': 20.39}, {'connected_gene': 'GPN1', 'score': 14.33}, {'connected_gene': 'GTF3C2', 'score': 14.08}, {'connected_gene': 'CAD', 'score': 13.17}, {'connected_gene': 'KCNK3', 'score': 12.61}, {'connected_gene': 'SLC35F6', 'score': 12.04}, {'connected_gene': 'GTF3C2-AS1', 'score': 11.2}, {'connected_gene': 'NRBP1', 'score': 10.94}, {'connected_gene': 'C2orf70', 'score': 10.85}, {'connected_gene': 'OTOF', 'score': 10.84}, {'connected_gene': 'ASXL2', 'score': 10.74}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'KHK', 'score': 6.89}, {'connected_gene': 'DPYSL5', 'score': 5.26}, {'connected_gene': 'HADHB', 'score': 4.66}, {'connected_gene': 'ADGRF3', 'score': 2.86}, {'connected_gene': 'HADHA', 'score': 2.5}, {'connected_gene': 'ATRAID', 'score': 1.31}, {'connected_gene': 'GC02P026705', 'score': 0.37}]
chr2 GH02I026784 26784953 26787262 2.07 [{'connected_gene': 'CENPA', 'score': 564.95}, {'connected_gene': 'ASXL2', 'score': 39.78}, {'connected_gene': 'EIF2B4', 'score': 35.56}, {'connected_gene': 'NRBP1', 'score': 35.38}, {'connected_gene': 'GPN1', 'score': 35.36}, {'connected_gene': 'GTF3C2', 'score': 33.92}, {'connected_gene': 'PPM1G', 'score': 32.7}, {'connected_gene': 'ATRAID', 'score': 28.71}, {'connected_gene': 'CAD', 'score': 20.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 16.15}, {'connected_gene': 'SNX17', 'score': 13.87}, {'connected_gene': 'AGBL5', 'score': 13.32}, {'connected_gene': 'TMEM214', 'score': 12.69}, {'connected_gene': 'LOC105374363', 'score': 12.12}, {'connected_gene': 'HADHA', 'score': 10.3}, {'connected_gene': 'OST4', 'score': 10.06}, {'connected_gene': 'MAPRE3', 'score': 9.92}, {'connected_gene': 'SLC35F6', 'score': 4.69}, {'connected_gene': 'CDKN2AIPNLP2', 'score': 0.26}]
chr2 GH02I025833 25833752 25833901 0.72 [{'connected_gene': 'GC02P025824', 'score': 0.39}, {'connected_gene': 'ENSG00000218682', 'score': 0.34}, {'connected_gene': 'GC02M025821', 'score': 0.29}, {'connected_gene': 'ASXL2', 'score': 0.26}]
chr2 GH02I025228 25228372 25231543 1.2 [{'connected_gene': 'PIR34629', 'score': 550.77}, {'connected_gene': 'GC02M025233', 'score': 550.77}, {'connected_gene': 'ITSN2', 'score': 13.85}, {'connected_gene': 'ASXL2', 'score': 11.42}, {'connected_gene': 'DNMT3A', 'score': 11.35}, {'connected_gene': 'RPS2P15', 'score': 9.81}, {'connected_gene': 'POMC', 'score': 7.64}, {'connected_gene': 'ADCY3', 'score': 6.01}, {'connected_gene': 'GC02P025214', 'score': 0.37}, {'connected_gene': 'GC02M025128', 'score': 0.31}]
chr2 GH02I025821 25821739 25822989 1.26 [{'connected_gene': 'GC02P025824', 'score': 550.77}, {'connected_gene': 'PTGES3P2', 'score': 550.77}, {'connected_gene': 'ASXL2', 'score': 7.04}, {'connected_gene': 'GC02M025821', 'score': 0.26}]

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