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
ENST00000296215 [[38000049, 38003613], [38005757, 38006356], [38018245, 38018348], [38019606, 38019903]] [[38003348, 38003613], [38005757, 38006356], [38018245, 38018348], [38019606, 38019830]]
ENST00000468040 [[38006100, 38006356], [38014421, 38014588], [38018245, 38018348], [38019792, 38019849]] None
ENST00000493916 [[38018087, 38018348], [38019606, 38019891]] None
NM_024700 [[38000049, 38003613], [38005757, 38006356], [38018245, 38018348], [38019606, 38019945]] [[38003348, 38003613], [38005757, 38006356], [38018245, 38018348], [38019606, 38019830]]
Promoter
Chrom Start End Description
chr1 38019843 38019859 CAGE_peak_2_at_SNIP1_5end
chr1 38019878 38019905 CAGE_peak_1_at_SNIP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I037470 37470221 37488505 2.85 [{'connected_gene': 'ZC3H12A', 'score': 596.91}, {'connected_gene': 'MIR6732', 'score': 550.77}, {'connected_gene': 'LINC01137', 'score': 44.26}, {'connected_gene': 'MTF1', 'score': 33.94}, {'connected_gene': 'SNIP1', 'score': 21.25}, {'connected_gene': 'GNL2', 'score': 17.01}, {'connected_gene': 'DNALI1', 'score': 14.31}, {'connected_gene': 'SF3A3', 'score': 14.23}, {'connected_gene': 'FTH1P1', 'score': 10.37}, {'connected_gene': 'MEAF6', 'score': 9.98}, {'connected_gene': 'YRDC', 'score': 3.72}, {'connected_gene': 'C1orf122', 'score': 1.83}, {'connected_gene': 'PIR46555', 'score': 0.77}, {'connected_gene': 'GC01M037470', 'score': 0.44}]
chr1 GH01I037552 37552818 37554929 2.08 [{'connected_gene': 'SNIP1', 'score': 624.04}, {'connected_gene': 'C1orf109', 'score': 51.41}, {'connected_gene': 'SF3A3', 'score': 49.07}, {'connected_gene': 'GNL2', 'score': 42.15}, {'connected_gene': 'FTH1P1', 'score': 30.46}, {'connected_gene': 'YRDC', 'score': 19.59}, {'connected_gene': 'INPP5B', 'score': 15.78}, {'connected_gene': 'CDCA8', 'score': 10.18}, {'connected_gene': 'ZC3H12A', 'score': 10.16}, {'connected_gene': 'RSPO1', 'score': 5.68}, {'connected_gene': 'LINC01137', 'score': 4.49}, {'connected_gene': 'GC01P037546', 'score': 0.44}]
chr1 GH01I037507 37507668 37508571 0.69 [{'connected_gene': 'DNALI1', 'score': 25.12}, {'connected_gene': 'LINC01137', 'score': 15.32}, {'connected_gene': 'ZC3H12A', 'score': 10.99}, {'connected_gene': 'RPS27P9', 'score': 10.7}, {'connected_gene': 'SNIP1', 'score': 10.7}, {'connected_gene': 'GNL2', 'score': 10.17}, {'connected_gene': 'MEAF6', 'score': 0.44}, {'connected_gene': 'MIR5581', 'score': 0.44}]
chr1 GH01I037605 37605715 37607000 0.38 [{'connected_gene': 'DNALI1', 'score': 24.06}, {'connected_gene': 'CDCA8', 'score': 10.69}, {'connected_gene': 'C1orf109', 'score': 10.69}, {'connected_gene': 'SNIP1', 'score': 10.4}, {'connected_gene': 'RPS27P9', 'score': 10.4}, {'connected_gene': 'ENSG00000233728', 'score': 9.3}, {'connected_gene': 'ENSG00000284748', 'score': 0.39}, {'connected_gene': 'RSPO1', 'score': 0.31}]
chr1 GH01I037533 37533413 37535851 1.18 [{'connected_gene': 'DNALI1', 'score': 11.87}, {'connected_gene': 'RPS27P9', 'score': 11.87}, {'connected_gene': 'MEAF6', 'score': 8.22}, {'connected_gene': 'LINC01137', 'score': 5.13}, {'connected_gene': 'LOC105378649', 'score': 0.77}, {'connected_gene': 'FTH1P1', 'score': 0.44}, {'connected_gene': 'SNIP1', 'score': 0.37}]
chr1 GH01I037448 37448154 37450413 0.82 [{'connected_gene': 'LINC01137', 'score': 24.46}, {'connected_gene': 'ZC3H12A', 'score': 12.13}, {'connected_gene': 'RPS27P9', 'score': 10.66}, {'connected_gene': 'SNIP1', 'score': 10.66}, {'connected_gene': 'DNALI1', 'score': 10.66}, {'connected_gene': 'RSPO1', 'score': 5.49}, {'connected_gene': 'MEAF6', 'score': 4.47}, {'connected_gene': 'GC01M037470', 'score': 0.34}, {'connected_gene': 'PIR53142', 'score': 0.15}]
chr1 GH01I037451 37451804 37453531 0.74 [{'connected_gene': 'LINC01137', 'score': 33.94}, {'connected_gene': 'ZC3H12A', 'score': 12.13}, {'connected_gene': 'RPS27P9', 'score': 10.67}, {'connected_gene': 'SNIP1', 'score': 10.67}, {'connected_gene': 'DNALI1', 'score': 10.67}, {'connected_gene': 'RSPO1', 'score': 5.49}, {'connected_gene': 'GC01M037470', 'score': 0.37}, {'connected_gene': 'PIR53142', 'score': 0.15}]
chr1 GH01I037497 37497975 37498109 0.76 [{'connected_gene': 'LINC01137', 'score': 11.76}, {'connected_gene': 'ZC3H12A', 'score': 11.76}, {'connected_gene': 'RPS27P9', 'score': 11.04}, {'connected_gene': 'SNIP1', 'score': 11.04}, {'connected_gene': 'DNALI1', 'score': 11.04}, {'connected_gene': 'MIR5581', 'score': 0.77}, {'connected_gene': 'MEAF6', 'score': 0.37}, {'connected_gene': 'PIR46555', 'score': 0.37}]
chr1 GH01I037496 37496512 37496817 0.4 [{'connected_gene': 'LINC01137', 'score': 11.76}, {'connected_gene': 'ZC3H12A', 'score': 11.76}, {'connected_gene': 'RPS27P9', 'score': 11.04}, {'connected_gene': 'SNIP1', 'score': 11.04}, {'connected_gene': 'DNALI1', 'score': 11.03}, {'connected_gene': 'MIR5581', 'score': 0.77}, {'connected_gene': 'PIR46555', 'score': 0.39}, {'connected_gene': 'MEAF6', 'score': 0.37}]
chr1 GH01I037513 37513342 37515921 2.07 [{'connected_gene': 'MEAF6', 'score': 564.37}, {'connected_gene': 'SF3A3', 'score': 51.85}, {'connected_gene': 'GNL2', 'score': 32.01}, {'connected_gene': 'FTH1P1', 'score': 29.24}, {'connected_gene': 'DNALI1', 'score': 21.96}, {'connected_gene': 'INPP5B', 'score': 13.99}, {'connected_gene': 'SNIP1', 'score': 11.29}, {'connected_gene': 'RPS27P9', 'score': 11.27}, {'connected_gene': 'YRDC', 'score': 10.43}, {'connected_gene': 'C1orf109', 'score': 9.89}, {'connected_gene': 'LINC01137', 'score': 4.59}, {'connected_gene': 'MIR5581', 'score': 0.39}]
chr1 GH01I038008 38008280 38017539 2.53 [{'connected_gene': 'UTP11', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 48.63}, {'connected_gene': 'INPP5B', 'score': 47.92}, {'connected_gene': 'SNIP1', 'score': 37.34}, {'connected_gene': 'C1orf109', 'score': 35.84}, {'connected_gene': 'RNU6-510P', 'score': 12.1}, {'connected_gene': 'FTH1P1', 'score': 10.74}, {'connected_gene': 'RSPO1', 'score': 10.27}, {'connected_gene': 'MTF1', 'score': 10.23}, {'connected_gene': 'ENSG00000230955', 'score': 10.23}, {'connected_gene': 'YRDC', 'score': 10.18}, {'connected_gene': 'C1orf122', 'score': 10.17}, {'connected_gene': 'GNL2', 'score': 9.78}, {'connected_gene': 'CDCA8', 'score': 8.69}, {'connected_gene': 'GC01P038029', 'score': 0.37}]
chr1 GH01I037845 37845201 37847600 1.05 [{'connected_gene': 'MTF1', 'score': 29.85}, {'connected_gene': 'ZC3H12A', 'score': 28.85}, {'connected_gene': 'YRDC', 'score': 13.01}, {'connected_gene': 'C1orf122', 'score': 11.27}, {'connected_gene': 'ENSG00000233728', 'score': 10.5}, {'connected_gene': 'CDCA8', 'score': 9.84}, {'connected_gene': 'C1orf109', 'score': 9.84}, {'connected_gene': 'FHL3', 'score': 5.64}, {'connected_gene': 'SNIP1', 'score': 3.05}, {'connected_gene': 'RPS2P13', 'score': 0.44}]
chr1 GH01I037825 37825201 37826000 0.6 [{'connected_gene': 'MTF1', 'score': 37.74}, {'connected_gene': 'INPP5B', 'score': 27.08}, {'connected_gene': 'ZC3H12A', 'score': 25.35}, {'connected_gene': 'ENSG00000230955', 'score': 11.77}, {'connected_gene': 'ENSG00000233728', 'score': 11.37}, {'connected_gene': 'SNIP1', 'score': 2.64}, {'connected_gene': 'YRDC', 'score': 2.15}, {'connected_gene': 'GC01M037827', 'score': 0.77}, {'connected_gene': 'PIR39326', 'score': 0.77}, {'connected_gene': 'RPS2P13', 'score': 0.37}]
chr1 GH01I037850 37850001 37853800 1.36 [{'connected_gene': 'MTF1', 'score': 45.73}, {'connected_gene': 'INPP5B', 'score': 36.9}, {'connected_gene': 'ZC3H12A', 'score': 25.89}, {'connected_gene': 'YRDC', 'score': 13.25}, {'connected_gene': 'C1orf122', 'score': 10.84}, {'connected_gene': 'ENSG00000233728', 'score': 10.58}, {'connected_gene': 'SNIP1', 'score': 2.75}, {'connected_gene': 'RPS2P13', 'score': 0.39}]
chr1 GH01I037858 37858152 37861557 2.27 [{'connected_gene': 'MTF1', 'score': 550.77}, {'connected_gene': 'ENSG00000230955', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 30.56}, {'connected_gene': 'SNIP1', 'score': 24.23}, {'connected_gene': 'GNL2', 'score': 17.35}, {'connected_gene': 'INPP5B', 'score': 11.87}, {'connected_gene': 'UTP11', 'score': 10.42}, {'connected_gene': 'C1orf109', 'score': 10.03}, {'connected_gene': 'FHL3', 'score': 4.57}]
chr1 GH01I037537 37537460 37537649 0.57 [{'connected_gene': 'GNL2', 'score': 10.85}, {'connected_gene': 'CDCA8', 'score': 9.52}, {'connected_gene': 'C1orf109', 'score': 9.52}, {'connected_gene': 'FTH1P1', 'score': 0.44}, {'connected_gene': 'LOC105378649', 'score': 0.44}, {'connected_gene': 'SNIP1', 'score': 0.37}]
chr1 GH01I038063 38063792 38064804 0.67 [{'connected_gene': 'MYCBP', 'score': 14.07}, {'connected_gene': 'SNIP1', 'score': 14.07}, {'connected_gene': 'SF3A3', 'score': 13.88}, {'connected_gene': 'FTH1P1', 'score': 12.33}, {'connected_gene': 'GNL2', 'score': 10.22}, {'connected_gene': 'AKIRIN1', 'score': 5.75}, {'connected_gene': 'ENSG00000224592', 'score': 0.37}, {'connected_gene': 'LOC105378653', 'score': 0.37}, {'connected_gene': 'ENSG00000223589', 'score': 0.37}]
chr1 GH01I037545 37545130 37545378 0.43 [{'connected_gene': 'FTH1P1', 'score': 562.29}, {'connected_gene': 'GC01P037545', 'score': 550.77}, {'connected_gene': 'GC01P037546', 'score': 550.77}, {'connected_gene': 'GNL2', 'score': 35.96}, {'connected_gene': 'SF3A3', 'score': 21.34}, {'connected_gene': 'SNIP1', 'score': 15.7}, {'connected_gene': 'MEAF6', 'score': 11.86}, {'connected_gene': 'INPP5B', 'score': 11.38}, {'connected_gene': 'CDCA8', 'score': 10.17}, {'connected_gene': 'C1orf109', 'score': 10.17}, {'connected_gene': 'ZC3H12A', 'score': 2.5}, {'connected_gene': 'MTF1', 'score': 2.15}]
chr1 GH01I037994 37994512 38008164 2.7 [{'connected_gene': 'FHL3', 'score': 599.57}, {'connected_gene': 'SF3A3', 'score': 46.56}, {'connected_gene': 'SNIP1', 'score': 17.01}, {'connected_gene': 'MYCBP', 'score': 14.26}, {'connected_gene': 'C1orf109', 'score': 11.45}, {'connected_gene': 'FTH1P1', 'score': 11.15}, {'connected_gene': 'GNL2', 'score': 9.68}, {'connected_gene': 'MEAF6', 'score': 5.26}, {'connected_gene': 'UTP11', 'score': 1.92}, {'connected_gene': 'MTF1', 'score': 1.44}, {'connected_gene': 'RNU6-510P', 'score': 0.44}]
chr1 GH01I037793 37793600 37794801 1.93 [{'connected_gene': 'MANEAL', 'score': 550.77}, {'connected_gene': 'C1orf109', 'score': 15.53}, {'connected_gene': 'SNIP1', 'score': 12.67}, {'connected_gene': 'SF3A3', 'score': 9.73}, {'connected_gene': 'ENSG00000233728', 'score': 0.44}]
chr1 GH01I037806 37806382 37809902 1.98 [{'connected_gene': 'C1orf122', 'score': 550.77}, {'connected_gene': 'YRDC', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 34.22}, {'connected_gene': 'SF3A3', 'score': 21.38}, {'connected_gene': 'SNIP1', 'score': 15.33}, {'connected_gene': 'GNL2', 'score': 12.23}, {'connected_gene': 'FTH1P1', 'score': 11.58}, {'connected_gene': 'FHL3', 'score': 4.69}, {'connected_gene': 'GC01M037824', 'score': 0.44}, {'connected_gene': 'MTF1', 'score': 0.23}]
chr1 GH01I037930 37930135 37933295 1.97 [{'connected_gene': 'LOC105378651', 'score': 550.77}, {'connected_gene': 'INPP5B', 'score': 550.37}, {'connected_gene': 'SF3A3', 'score': 54.31}, {'connected_gene': 'SNIP1', 'score': 24.22}, {'connected_gene': 'C1orf109', 'score': 19.34}, {'connected_gene': 'GNL2', 'score': 17.33}, {'connected_gene': 'FHL3', 'score': 11.47}, {'connected_gene': 'UTP11', 'score': 10.49}, {'connected_gene': 'RNU6-584P', 'score': 0.25}]
chr1 GH01I037842 37842683 37842892 0.38 [{'connected_gene': 'RPS2P13', 'score': 550.77}, {'connected_gene': 'ZC3H12A', 'score': 12.88}, {'connected_gene': 'YRDC', 'score': 11.47}, {'connected_gene': 'C1orf122', 'score': 11.45}, {'connected_gene': 'ENSG00000233728', 'score': 10.72}, {'connected_gene': 'MTF1', 'score': 9.16}, {'connected_gene': 'FHL3', 'score': 4.58}, {'connected_gene': 'SNIP1', 'score': 2.26}]
chr1 GH01I038137 38137974 38139523 1.02 [{'connected_gene': 'GC01P038138', 'score': 550.77}, {'connected_gene': 'SNIP1', 'score': 16.99}, {'connected_gene': 'SF3A3', 'score': 16.08}, {'connected_gene': 'MYCBP', 'score': 14.26}, {'connected_gene': 'FTH1P1', 'score': 11.13}, {'connected_gene': 'GNL2', 'score': 9.66}, {'connected_gene': 'LOC105378655', 'score': 0.77}]
chr1 GH01I037326 37326200 37326349 0.54 [{'connected_gene': 'ENSG00000223944', 'score': 550.77}, {'connected_gene': 'SNIP1', 'score': 15.32}, {'connected_gene': 'SF3A3', 'score': 14.22}, {'connected_gene': 'FTH1P1', 'score': 10.25}, {'connected_gene': 'LINC01137', 'score': 6.04}, {'connected_gene': 'RPS29P6', 'score': 0.77}]
chr1 GH01I037821 37821486 37821727 0.24 [{'connected_gene': 'GC01M037827', 'score': 550.77}, {'connected_gene': 'PIR39326', 'score': 550.77}, {'connected_gene': 'MTF1', 'score': 43.15}, {'connected_gene': 'ZC3H12A', 'score': 21.26}, {'connected_gene': 'ENSG00000230955', 'score': 11.46}, {'connected_gene': 'CDCA8', 'score': 9.72}, {'connected_gene': 'C1orf109', 'score': 9.72}, {'connected_gene': 'SNIP1', 'score': 2.83}, {'connected_gene': 'YRDC', 'score': 2.62}, {'connected_gene': 'PIR53410', 'score': 0.44}]
chr1 GH01I037544 37544183 37544803 0.47 [{'connected_gene': 'GC01P037545', 'score': 550.77}, {'connected_gene': 'GC01P037546', 'score': 550.77}, {'connected_gene': 'FTH1P1', 'score': 550.77}, {'connected_gene': 'MEAF6', 'score': 25.53}, {'connected_gene': 'GNL2', 'score': 10.93}, {'connected_gene': 'CDCA8', 'score': 10.17}, {'connected_gene': 'C1orf109', 'score': 10.17}, {'connected_gene': 'LINC01137', 'score': 4.5}, {'connected_gene': 'ZC3H12A', 'score': 3.52}, {'connected_gene': 'MTF1', 'score': 2.35}, {'connected_gene': 'SNIP1', 'score': 1.77}, {'connected_gene': 'LOC105378649', 'score': 0.39}]

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