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
ENST00000313010 [[82534543, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82611276, 82611639]] [[82535947, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82611276, 82611444]]
ENST00000393399 [[82535409, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82595864, 82595927], [82611276, 82611472]] [[82535947, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82595864, 82595927], [82611276, 82611444]]
ENST00000535099 [[82535831, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82612634, 82612733]] [[82535947, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564314]]
ENST00000531801 [[82550372, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82612612, 82612700]] [[82550372, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564314]]
ENST00000534631 [[82560118, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82612500, 82612699]] [[82560118, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564314]]
ENST00000527444 [[82560146, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82612634, 82612782]] [[82560146, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564314]]
ENST00000531128 [[82560253, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82612634, 82612731]] [[82560253, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564314]]
ENST00000534396 [[82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82668106, 82668157], [82681523, 82681626]] [[82560955, 82561113], [82561365, 82561547], [82564218, 82564314]]
ENST00000529671 [[82561092, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82611823, 82611988]] [[82561092, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82611823, 82611868]]
ENST00000528082 [[82561092, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82612530, 82612575]] [[82561092, 82561113], [82561365, 82561547], [82564218, 82564314]]
ENST00000532809 [[82561447, 82561547], [82564218, 82564320], [82571018, 82571159], [82611692, 82611874]] [[82561447, 82561547], [82564218, 82564320], [82571018, 82571159], [82611692, 82611698]]
ENST00000533126 [[82561514, 82561547], [82564218, 82564320], [82571018, 82571159], [82612500, 82612578]] [[82561514, 82561547], [82564218, 82564314]]
ENST00000532709 [[82535414, 82536164], [82549428, 82549616], [82550302, 82551885]] None
ENST00000525772 [[82536026, 82536164], [82549428, 82549616], [82550302, 82550467], [82554225, 82554346], [82556794, 82556848]] None
ENST00000524642 [[82549428, 82549616], [82550302, 82550467], [82556657, 82556764]] None
ENST00000526918 [[82549489, 82549616], [82550302, 82550467], [82554225, 82554346], [82556652, 82556776]] None
ENST00000531283 [[82549544, 82549616], [82550302, 82550467], [82554225, 82554346], [82556657, 82556864]] None
ENST00000532476 [[82550323, 82550467], [82556794, 82557221]] None
ENST00000534264 [[82564235, 82564320], [82569324, 82569813]] [[82564235, 82564314]]
NM_199418 [[82533981, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82595864, 82595927], [82611276, 82611645]] [[82535947, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82595864, 82595927], [82611276, 82611444]]
NM_005040 [[82533981, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82611276, 82611645]] [[82535947, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82571018, 82571159], [82611276, 82611444]]
NM_001319214 [[82533981, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564320], [82612634, 82612782]] [[82535947, 82536164], [82549428, 82549616], [82550302, 82550467], [82560090, 82560260], [82560955, 82561113], [82561365, 82561547], [82564218, 82564314]]
Promoter
Chrom Start End Description
chr11 82556854 82556872 CAGE_peak_3_at_PRCP_5end
chr11 82557173 82557179 CAGE_peak_5_at_PRCP_5end
chr11 82611448 82611492 CAGE_peak_1_at_PRCP_5end
chr11 82612549 82612559 CAGE_peak_7_at_PRCP_5end
chr11 82612636 82612654 CAGE_peak_2_at_PRCP_5end
chr11 82612678 82612691 CAGE_peak_4_at_PRCP_5end
chr11 82612709 82612724 CAGE_peak_6_at_PRCP_5end
chr11 82612727 82612738 CAGE_peak_17_at_PRCP_5end
chr11 82681723 82681765 CAGE_peak_14_at_PRCP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I082838 82838787 82840445 0.2 [{'connected_gene': 'PRCP', 'score': 15.46}, {'connected_gene': 'FAM181B', 'score': 11.07}, {'connected_gene': 'DDIAS', 'score': 10.89}, {'connected_gene': 'ENSG00000254441', 'score': 0.77}, {'connected_gene': 'LOC105369413', 'score': 0.22}]
chr11 GH11I082922 82922631 82923410 0.51 [{'connected_gene': 'PRCP', 'score': 25.96}, {'connected_gene': 'DDIAS', 'score': 12.28}, {'connected_gene': 'RAB30', 'score': 11.01}, {'connected_gene': 'RAB30-AS1', 'score': 11.01}, {'connected_gene': 'RPL7AP54', 'score': 0.29}]
chr11 GH11I083054 83054679 83055895 0.86 [{'connected_gene': 'PRCP', 'score': 10.24}, {'connected_gene': 'DDIAS', 'score': 10.17}, {'connected_gene': 'RAB30', 'score': 9.98}, {'connected_gene': 'RAB30-AS1', 'score': 7.35}, {'connected_gene': 'SNORA70E', 'score': 0.39}, {'connected_gene': 'GC11M083042', 'score': 0.39}]
chr11 GH11I082969 82969322 82970425 0.96 [{'connected_gene': 'PRCP', 'score': 556.19}, {'connected_gene': 'DDIAS', 'score': 17.03}, {'connected_gene': 'RAB30', 'score': 11.4}, {'connected_gene': 'ENSG00000254698', 'score': 10.18}, {'connected_gene': 'SNORA70E', 'score': 10.17}, {'connected_gene': 'ENSG00000254522', 'score': 10.17}, {'connected_gene': 'ENSG00000242279', 'score': 0.39}]
chr11 GH11I082840 82840561 82844378 0.57 [{'connected_gene': 'PRCP', 'score': 24.86}, {'connected_gene': 'DDIAS', 'score': 23.93}, {'connected_gene': 'FAM181B', 'score': 11.07}, {'connected_gene': 'ENSG00000254441', 'score': 0.44}, {'connected_gene': 'LOC105369413', 'score': 0.21}]
chr11 GH11I082844 82844666 82846668 0.49 [{'connected_gene': 'PRCP', 'score': 14.06}, {'connected_gene': 'DDIAS', 'score': 12.55}, {'connected_gene': 'ENSG00000254441', 'score': 0.39}, {'connected_gene': 'LOC105369413', 'score': 0.21}]
chr11 GH11I083050 83050794 83054607 1.22 [{'connected_gene': 'PRCP', 'score': 10.24}, {'connected_gene': 'DDIAS', 'score': 10.17}, {'connected_gene': 'RAB30-AS1', 'score': 8.92}, {'connected_gene': 'RAB30', 'score': 8.92}, {'connected_gene': 'SNORA70E', 'score': 0.39}, {'connected_gene': 'GC11M083042', 'score': 0.39}]
chr11 GH11I082971 82971302 82972477 1.12 [{'connected_gene': 'PRCP', 'score': 550.77}, {'connected_gene': 'DDIAS', 'score': 16.8}, {'connected_gene': 'RAB30-AS1', 'score': 5.22}, {'connected_gene': 'GC11M082975', 'score': 0.44}, {'connected_gene': 'ENSG00000254698', 'score': 0.2}]
chr11 GH11I082895 82895359 82896400 0.94 [{'connected_gene': 'PRCP', 'score': 13.96}, {'connected_gene': 'DDIAS', 'score': 7.54}, {'connected_gene': 'ENSG00000254441', 'score': 0.21}]
chr11 GH11I083176 83176954 83178039 0.43 [{'connected_gene': 'PCF11', 'score': 11.29}, {'connected_gene': 'RAB30-AS1', 'score': 10.7}, {'connected_gene': 'RAB30', 'score': 10.7}, {'connected_gene': 'PRCP', 'score': 10.69}, {'connected_gene': 'DDIAS', 'score': 10.67}, {'connected_gene': 'CCDC90B', 'score': 10.64}, {'connected_gene': 'ENSG00000255234', 'score': 10.64}, {'connected_gene': 'ENSG00000254698', 'score': 9.42}, {'connected_gene': 'SNORA70E', 'score': 9.42}, {'connected_gene': 'ENSG00000254522', 'score': 9.42}, {'connected_gene': 'ENSG00000254676', 'score': 0.77}, {'connected_gene': 'GC11P083158', 'score': 0.37}]
chr11 GH11I083033 83033115 83036955 1.68 [{'connected_gene': 'RAB30', 'score': 559.95}, {'connected_gene': 'DDIAS', 'score': 14.15}, {'connected_gene': 'RAB30-AS1', 'score': 9.52}, {'connected_gene': 'PRCP', 'score': 8.98}, {'connected_gene': 'ENSG00000254698', 'score': 0.77}, {'connected_gene': 'GC11M082975', 'score': 0.22}]
chr11 GH11I082906 82906801 82907786 0.58 [{'connected_gene': 'RAB30', 'score': 10.55}, {'connected_gene': 'RAB30-AS1', 'score': 10.55}, {'connected_gene': 'PRCP', 'score': 10.28}, {'connected_gene': 'DDIAS', 'score': 0.44}, {'connected_gene': 'RPL7AP54', 'score': 0.23}]
chr11 GH11I083042 83042815 83045732 1.13 [{'connected_gene': 'RAB30', 'score': 21.17}, {'connected_gene': 'RAB30-AS1', 'score': 11.63}, {'connected_gene': 'PRCP', 'score': 8.62}, {'connected_gene': 'SNORA70E', 'score': 0.77}, {'connected_gene': 'GC11M083042', 'score': 0.77}]
chr11 GH11I082919 82919661 82921163 1.09 [{'connected_gene': 'RAB30', 'score': 11.01}, {'connected_gene': 'RAB30-AS1', 'score': 11.01}, {'connected_gene': 'DDIAS', 'score': 0.34}, {'connected_gene': 'RPL7AP54', 'score': 0.28}, {'connected_gene': 'PRCP', 'score': 0.23}]
chr11 GH11I082907 82906319 82906448 0.77 [{'connected_gene': 'RAB30', 'score': 10.55}, {'connected_gene': 'RAB30-AS1', 'score': 10.55}, {'connected_gene': 'DDIAS', 'score': 0.44}, {'connected_gene': 'RPL7AP54', 'score': 0.23}, {'connected_gene': 'PRCP', 'score': 0.21}]
chr11 GH11I082993 82993850 82998174 1.21 [{'connected_gene': 'RAB30', 'score': 22.14}, {'connected_gene': 'RAB30-AS1', 'score': 20.09}, {'connected_gene': 'ENSG00000254698', 'score': 11.32}, {'connected_gene': 'SNORA70E', 'score': 11.31}, {'connected_gene': 'ENSG00000254522', 'score': 11.31}, {'connected_gene': 'PRCP', 'score': 10.87}, {'connected_gene': 'DDIAS', 'score': 10.71}, {'connected_gene': 'GC11M082975', 'score': 0.37}]
chr11 GH11I082899 82899054 82902856 2.51 [{'connected_gene': 'DDIAS', 'score': 575.46}, {'connected_gene': 'PRCP', 'score': 564.08}, {'connected_gene': 'PCF11', 'score': 44.45}, {'connected_gene': 'ENSG00000254676', 'score': 23.31}, {'connected_gene': 'ENSG00000254551', 'score': 21.45}, {'connected_gene': 'ANKRD42', 'score': 2.53}, {'connected_gene': 'RAB30', 'score': 1.95}, {'connected_gene': 'RPL7AP54', 'score': 0.22}]
chr11 GH11I082927 82927379 82927548 0.87 [{'connected_gene': 'DDIAS', 'score': 20.32}, {'connected_gene': 'PRCP', 'score': 12.2}, {'connected_gene': 'RAB30', 'score': 10.99}, {'connected_gene': 'RAB30-AS1', 'score': 10.99}, {'connected_gene': 'RPL7AP54', 'score': 0.31}]
chr11 GH11I082888 82888919 82892200 1.06 [{'connected_gene': 'DDIAS', 'score': 23.03}, {'connected_gene': 'PRCP', 'score': 12.5}, {'connected_gene': 'RAB30', 'score': 10.56}, {'connected_gene': 'RAB30-AS1', 'score': 10.56}, {'connected_gene': 'ENSG00000254441', 'score': 0.22}]
chr11 GH11I082871 82871779 82871928 0.38 [{'connected_gene': 'DDIAS', 'score': 11.75}, {'connected_gene': 'PRCP', 'score': 11.59}, {'connected_gene': 'RAB30', 'score': 9.97}, {'connected_gene': 'ENSG00000254441', 'score': 0.28}]
chr11 GH11I082867 82867119 82868000 1.08 [{'connected_gene': 'DDIAS', 'score': 18.91}, {'connected_gene': 'PRCP', 'score': 18.9}, {'connected_gene': 'FAM181B', 'score': 11.23}, {'connected_gene': 'ENSG00000255234', 'score': 10.27}, {'connected_gene': 'CCDC90B', 'score': 10.27}, {'connected_gene': 'RAB30', 'score': 9.97}, {'connected_gene': 'ENSG00000254441', 'score': 0.29}]
chr11 GH11I082860 82860467 82861784 0.31 [{'connected_gene': 'DDIAS', 'score': 15.77}, {'connected_gene': 'PRCP', 'score': 15.74}, {'connected_gene': 'FAM181B', 'score': 11.63}, {'connected_gene': 'ENSG00000254441', 'score': 0.31}]
chr11 GH11I082977 82977965 82981517 1.15 [{'connected_gene': 'DDIAS', 'score': 15.78}, {'connected_gene': 'RAB30', 'score': 8.19}, {'connected_gene': 'RAB30-AS1', 'score': 6.25}, {'connected_gene': 'PRCP', 'score': 5.67}, {'connected_gene': 'GC11M082975', 'score': 0.77}, {'connected_gene': 'ENSG00000254698', 'score': 0.22}]
chr11 GH11I082914 82914307 82914366 0.5 [{'connected_gene': 'DDIAS', 'score': 550.39}, {'connected_gene': 'RAB30', 'score': 10.33}, {'connected_gene': 'RAB30-AS1', 'score': 10.33}, {'connected_gene': 'RPL7AP54', 'score': 0.26}, {'connected_gene': 'PRCP', 'score': 0.22}]
chr11 GH11I082857 82857266 82860217 1 [{'connected_gene': 'DDIAS', 'score': 16.73}, {'connected_gene': 'FAM181B', 'score': 11.19}, {'connected_gene': 'PRCP', 'score': 10.52}, {'connected_gene': 'ENSG00000254441', 'score': 0.34}]
chr11 GH11I082863 82863879 82865028 1.17 [{'connected_gene': 'DDIAS', 'score': 28.65}, {'connected_gene': 'FAM181B', 'score': 11.62}, {'connected_gene': 'PRCP', 'score': 11.29}, {'connected_gene': 'ENSG00000254441', 'score': 0.31}]
chr11 GH11I083032 83031486 83032861 0.31 [{'connected_gene': 'DDIAS', 'score': 14.1}, {'connected_gene': 'RAB30-AS1', 'score': 9.53}, {'connected_gene': 'PRCP', 'score': 8.55}, {'connected_gene': 'ENSG00000254698', 'score': 0.44}, {'connected_gene': 'RAB30', 'score': 0.28}, {'connected_gene': 'GC11M082975', 'score': 0.23}]
chr11 GH11I082959 82959424 82961558 1.09 [{'connected_gene': 'DDIAS', 'score': 20.71}, {'connected_gene': 'RAB30-AS1', 'score': 17.18}, {'connected_gene': 'RAB30', 'score': 10.82}, {'connected_gene': 'ENSG00000254698', 'score': 9.49}, {'connected_gene': 'SNORA70E', 'score': 9.48}, {'connected_gene': 'ENSG00000254522', 'score': 9.48}, {'connected_gene': 'PRCP', 'score': 8.39}, {'connected_gene': 'ENSG00000242279', 'score': 0.77}]
chr11 GH11I083722 83722293 83726320 1.39 [{'connected_gene': 'LOC101929043', 'score': 15.87}, {'connected_gene': 'RAB30-AS1', 'score': 11.3}, {'connected_gene': 'ENSG00000254676', 'score': 10.47}, {'connected_gene': 'PRCP', 'score': 4.88}, {'connected_gene': 'GC11P083761', 'score': 0.28}]
chr11 GH11I082991 82991691 82993607 0.56 [{'connected_gene': 'RAB30-AS1', 'score': 11.15}, {'connected_gene': 'RAB30', 'score': 11.15}, {'connected_gene': 'ENSG00000254698', 'score': 10.44}, {'connected_gene': 'SNORA70E', 'score': 10.44}, {'connected_gene': 'ENSG00000254522', 'score': 10.44}, {'connected_gene': 'PRCP', 'score': 10.44}, {'connected_gene': 'DDIAS', 'score': 10.26}, {'connected_gene': 'GC11M082975', 'score': 0.37}]
chr11 GH11I082883 82883082 82884672 0.83 [{'connected_gene': 'RAB30-AS1', 'score': 4.11}, {'connected_gene': 'DDIAS', 'score': 0.37}, {'connected_gene': 'ENSG00000254441', 'score': 0.25}, {'connected_gene': 'PRCP', 'score': 0.17}]
chr11 GH11I083249 83249978 83250359 0.56 [{'connected_gene': 'GC11M083248', 'score': 550.77}, {'connected_gene': 'ENSG00000255234', 'score': 12.07}, {'connected_gene': 'PRCP', 'score': 10.62}, {'connected_gene': 'DDIAS', 'score': 10.61}, {'connected_gene': 'RAB30-AS1', 'score': 10.21}, {'connected_gene': 'RAB30', 'score': 10.21}, {'connected_gene': 'GC11M083251', 'score': 0.77}, {'connected_gene': 'ANKRD42', 'score': 0.22}]
chr11 GH11I082790 82790223 82792511 0.91 [{'connected_gene': 'ENSG00000255382', 'score': 550.77}, {'connected_gene': 'PRCP', 'score': 5.4}, {'connected_gene': 'RAB30-AS1', 'score': 5.03}, {'connected_gene': 'LOC105369413', 'score': 0.44}]
chr11 GH11I083179 83179889 83183584 0.31 [{'connected_gene': 'ENSG00000254676', 'score': 550.77}, {'connected_gene': 'PCF11', 'score': 11.84}, {'connected_gene': 'RAB30-AS1', 'score': 10.72}, {'connected_gene': 'RAB30', 'score': 10.72}, {'connected_gene': 'PRCP', 'score': 10.68}, {'connected_gene': 'DDIAS', 'score': 10.67}, {'connected_gene': 'CCDC90B', 'score': 10.64}, {'connected_gene': 'ENSG00000255234', 'score': 10.64}, {'connected_gene': 'PCF11-AS1', 'score': 0.44}]
chr11 GH11I082955 82955384 82956887 0.96 [{'connected_gene': 'ENSG00000242279', 'score': 550.77}, {'connected_gene': 'RPL7AP54', 'score': 550.77}, {'connected_gene': 'DDIAS', 'score': 17.44}, {'connected_gene': 'RAB30-AS1', 'score': 10.48}, {'connected_gene': 'RAB30', 'score': 10.48}, {'connected_gene': 'ENSG00000254698', 'score': 10.06}, {'connected_gene': 'SNORA70E', 'score': 10.05}, {'connected_gene': 'ENSG00000254522', 'score': 10.05}, {'connected_gene': 'PRCP', 'score': 8.4}]

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