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
ENST00000490029 [[38032416, 38032608], [38033273, 38033716]] None
ENST00000373062 [[38032416, 38032608], [38033273, 38033365], [38033875, 38033958], [38034451, 38034903], [38039943, 38040057], [38040265, 38040424], [38041195, 38041300], [38042028, 38042157], [38047823, 38047937], [38048378, 38048537], [38049467, 38049534], [38052911, 38053096], [38056306, 38056446], [38058312, 38058407], [38059362, 38059447], [38061359, 38061522]] [[38032455, 38032608], [38033273, 38033365], [38033875, 38033958], [38034451, 38034903], [38039943, 38040057], [38040265, 38040424], [38041195, 38041300], [38042028, 38042157], [38047823, 38047937], [38048378, 38048537], [38049467, 38049534], [38052911, 38053096], [38056306, 38056446], [38058312, 38058407], [38059362, 38059447], [38061359, 38061423]]
ENST00000462812 [[38032417, 38032608], [38033273, 38033365], [38033875, 38033958], [38034451, 38036494]] None
ENST00000479255 [[38032421, 38032608], [38033273, 38033365], [38033875, 38034018]] None
ENST00000538069 [[38040421, 38040424], [38041195, 38041300], [38042028, 38042157], [38046942, 38047146], [38047823, 38047937], [38048378, 38048524]] [[38040421, 38040424], [38041195, 38041300], [38042028, 38042157], [38046942, 38047146], [38047823, 38047937], [38048378, 38048524]]
ENST00000469191 [[38041770, 38042157], [38047823, 38047937], [38048378, 38048410]] None
ENST00000489146 [[38047876, 38047937], [38048378, 38048947]] None
ENST00000463351 [[38056379, 38056446], [38058312, 38058407], [38059362, 38059693]] None
ENST00000488496 [[38059085, 38059447], [38061359, 38061536]] None
NM_001323623 [[38032412, 38032608], [38033273, 38033365], [38033875, 38033958], [38034451, 38034903], [38039943, 38040057], [38040265, 38040424], [38041195, 38041300], [38042028, 38042157], [38046942, 38047146], [38047823, 38047937], [38048378, 38048537], [38049467, 38049534], [38052911, 38053096], [38056306, 38056446], [38058312, 38058407], [38059362, 38059447], [38061359, 38061586]] [[38032455, 38032608], [38033273, 38033365], [38033875, 38033958], [38034451, 38034903], [38039943, 38040057], [38040265, 38040424], [38041195, 38041300], [38042028, 38042157], [38046942, 38047146], [38047823, 38047937], [38048378, 38048537], [38049467, 38049534], [38052911, 38053096], [38056306, 38056446], [38058312, 38058407], [38059362, 38059447], [38061359, 38061423]]
NM_013285 [[38032412, 38032608], [38033273, 38033365], [38033875, 38033958], [38034451, 38034903], [38039943, 38040057], [38040265, 38040424], [38041195, 38041300], [38042028, 38042157], [38047823, 38047937], [38048378, 38048537], [38049467, 38049534], [38052911, 38053096], [38056306, 38056446], [38058312, 38058407], [38059362, 38059447], [38061359, 38061586]] [[38032455, 38032608], [38033273, 38033365], [38033875, 38033958], [38034451, 38034903], [38039943, 38040057], [38040265, 38040424], [38041195, 38041300], [38042028, 38042157], [38047823, 38047937], [38048378, 38048537], [38049467, 38049534], [38052911, 38053096], [38056306, 38056446], [38058312, 38058407], [38059362, 38059447], [38061359, 38061423]]
NM_001323624 [[38032412, 38032608], [38033273, 38033365], [38033875, 38033958], [38034451, 38034903], [38039943, 38040057], [38040265, 38040424], [38041195, 38041300], [38042028, 38042157], [38047823, 38047937], [38048378, 38048537], [38049467, 38049534], [38056306, 38056446], [38058312, 38058407], [38059362, 38059447], [38061359, 38061586]] [[38032455, 38032608], [38033273, 38033365], [38033875, 38033958], [38034451, 38034903], [38039943, 38040057], [38040265, 38040424], [38041195, 38041300], [38042028, 38042157], [38047823, 38047937], [38048378, 38048537], [38049467, 38049534], [38056306, 38056326]]
Promoter
Chrom Start End Description
chr1 38061528 38061555 CAGE_peak_1_at_GNL2_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 GH01I037574 37574213 37578162 0.56 [{'connected_gene': 'DNALI1', 'score': 16.38}, {'connected_gene': 'MEAF6', 'score': 13.76}, {'connected_gene': 'CDCA8', 'score': 10.25}, {'connected_gene': 'C1orf109', 'score': 10.25}, {'connected_gene': 'RSPO1', 'score': 5.78}, {'connected_gene': 'GNL2', 'score': 0.37}]
chr1 GH01I037556 37556395 37557946 1.79 [{'connected_gene': 'DNALI1', 'score': 566.77}, {'connected_gene': 'GC01P037558', 'score': 550.77}, {'connected_gene': 'RPS27P9', 'score': 550.77}, {'connected_gene': 'GNL2', 'score': 35.97}, {'connected_gene': 'MEAF6', 'score': 13.98}, {'connected_gene': 'CDCA8', 'score': 10.08}, {'connected_gene': 'C1orf109', 'score': 10.08}, {'connected_gene': 'LINC01137', 'score': 4.47}]
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 GH01I037688 37688686 37693558 2.11 [{'connected_gene': 'C1orf109', 'score': 581.46}, {'connected_gene': 'CDCA8', 'score': 550.77}, {'connected_gene': 'SF3A3', 'score': 43.06}, {'connected_gene': 'EPHA10', 'score': 37.91}, {'connected_gene': 'GNL2', 'score': 29.67}, {'connected_gene': 'FTH1P1', 'score': 21.01}, {'connected_gene': 'RSPO1', 'score': 11.01}, {'connected_gene': 'YRDC', 'score': 10.5}, {'connected_gene': 'DNALI1', 'score': 6.4}, {'connected_gene': 'GC01P037645', 'score': 0.25}]
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 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 GH01I037944 37944990 37948182 2.06 [{'connected_gene': 'INPP5B', 'score': 565.86}, {'connected_gene': 'FHL3', 'score': 22.7}, {'connected_gene': 'SF3A3', 'score': 16.23}, {'connected_gene': 'MYCBP', 'score': 10.53}, {'connected_gene': 'GNL2', 'score': 10.52}, {'connected_gene': 'LOC105378651', 'score': 0.39}]
chr1 GH01I037594 37594334 37596796 2.04 [{'connected_gene': 'GNL2', 'score': 550.77}, {'connected_gene': 'ENSG00000284748', 'score': 550.77}, {'connected_gene': 'DNALI1', 'score': 14.31}, {'connected_gene': 'CDCA8', 'score': 11.11}, {'connected_gene': 'C1orf109', 'score': 11.11}, {'connected_gene': 'MEAF6', 'score': 9.32}, {'connected_gene': 'LINC01137', 'score': 4.37}]
chr1 GH01I037518 37518980 37519129 0.57 [{'connected_gene': 'GNL2', 'score': 12.05}, {'connected_gene': 'MEAF6', 'score': 0.77}, {'connected_gene': 'LOC105378649', 'score': 0.39}]
chr1 GH01I037561 37561920 37562049 0.8 [{'connected_gene': 'GNL2', 'score': 11.31}, {'connected_gene': 'CDCA8', 'score': 10.08}, {'connected_gene': 'C1orf109', 'score': 10.08}, {'connected_gene': 'DNALI1', 'score': 0.44}]
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 GH01I037682 37682272 37683078 0.63 [{'connected_gene': 'EPHA10', 'score': 36.43}, {'connected_gene': 'GNL2', 'score': 11.59}, {'connected_gene': 'ENSG00000233728', 'score': 9.87}, {'connected_gene': 'C1orf109', 'score': 0.44}, {'connected_gene': 'GC01P037645', 'score': 0.28}]
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 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 GH01I037921 37921190 37923924 1.16 [{'connected_gene': 'SF3A3', 'score': 30.46}, {'connected_gene': 'INPP5B', 'score': 24.73}, {'connected_gene': 'FTH1P1', 'score': 11.58}, {'connected_gene': 'MYCBP', 'score': 11.15}, {'connected_gene': 'RNU6-510P', 'score': 11.13}, {'connected_gene': 'MTF1', 'score': 11.03}, {'connected_gene': 'ENSG00000230955', 'score': 11.03}, {'connected_gene': 'GNL2', 'score': 10.88}, {'connected_gene': 'YRDC', 'score': 10.51}, {'connected_gene': 'C1orf109', 'score': 9.86}, {'connected_gene': 'UTP11', 'score': 5.97}, {'connected_gene': 'LOC105378651', 'score': 0.44}, {'connected_gene': 'RNU6-584P', 'score': 0.28}]
chr1 GH01I037988 37988587 37990987 2.16 [{'connected_gene': 'SF3A3', 'score': 676.08}, {'connected_gene': 'RNU6-510P', 'score': 550.77}, {'connected_gene': 'GC01P037993', 'score': 550.77}, {'connected_gene': 'C1orf109', 'score': 87.66}, {'connected_gene': 'FTH1P1', 'score': 48.77}, {'connected_gene': 'INPP5B', 'score': 46.42}, {'connected_gene': 'GNL2', 'score': 46.21}, {'connected_gene': 'MYCBP', 'score': 44.52}, {'connected_gene': 'FHL3', 'score': 33.56}, {'connected_gene': 'RSPO1', 'score': 28.78}, {'connected_gene': 'RRAGC', 'score': 20.04}, {'connected_gene': 'YRDC', 'score': 19.0}, {'connected_gene': 'DNALI1', 'score': 12.27}, {'connected_gene': 'MEAF6', 'score': 12.08}, {'connected_gene': 'ENSG00000277168', 'score': 0.28}]
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 GH01I037498 37498708 37500029 0.99 [{'connected_gene': 'MIR5581', 'score': 550.77}, {'connected_gene': 'GNL2', 'score': 17.29}, {'connected_gene': 'DNALI1', 'score': 14.64}, {'connected_gene': 'MEAF6', 'score': 14.08}, {'connected_gene': 'CDCA8', 'score': 9.88}, {'connected_gene': 'C1orf109', 'score': 9.88}, {'connected_gene': 'LINC01137', 'score': 5.3}, {'connected_gene': 'EPHA10', 'score': 5.29}, {'connected_gene': 'PIR46555', 'score': 0.37}]
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 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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