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
ENST00000358011 [[38147241, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155555], [38156005, 38156192]] [[38148794, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155552]]
ENST00000494120 [[38147241, 38148832], [38148990, 38149148], [38151944, 38152124], [38155329, 38155555], [38156005, 38156110], [38157130, 38157253], [38157701, 38157888]] [[38152005, 38152124], [38155329, 38155552]]
ENST00000609516 [[38147242, 38149864]] None
ENST00000464178 [[38148407, 38148832], [38148990, 38149113], [38151944, 38152124], [38155277, 38155361]] None
ENST00000464085 [[38148782, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155558], [38155887, 38156176]] [[38148794, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155552]]
ENST00000491981 [[38148990, 38149109], [38151944, 38152124], [38155277, 38155555], [38157860, 38157895]] [[38148990, 38149109], [38151944, 38152124], [38155277, 38155552]]
ENST00000461359 [[38151944, 38152124], [38155277, 38155555], [38155887, 38156192]] [[38151944, 38152124], [38155277, 38155552]]
ENST00000477060 [[38151973, 38152124], [38155277, 38155558], [38157701, 38157877]] [[38151973, 38152124], [38155277, 38155552]]
ENST00000486637 [[38152058, 38152124], [38155277, 38155555], [38155673, 38156181]] [[38152058, 38152124], [38155277, 38155552]]
ENST00000491797 [[38155204, 38155555], [38155887, 38156185]] None
ENST00000488137 [[38155309, 38155558], [38155887, 38156110], [38157701, 38157914]] [[38155309, 38155552]]
ENST00000472584 [[38155317, 38155558], [38155673, 38156154]] None
ENST00000498448 [[38156719, 38157253], [38157701, 38157914]] None
NM_001303031 [[38147241, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155558], [38155887, 38156267]] [[38148794, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155558], [38155887, 38156070]]
NM_001303030 [[38147241, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155555], [38155887, 38156267]] [[38148794, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155555], [38155887, 38156070]]
NM_017850 [[38147241, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155555], [38156005, 38156267]] [[38148794, 38148832], [38148990, 38149109], [38151944, 38152124], [38155277, 38155552]]
Promoter
Chrom Start End Description
chr1 38156153 38156221 CAGE_peak_1_at_C1orf109_5end
chr1 38157895 38157953 CAGE_peak_2_at_C1orf109_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 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 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 GH01I037674 37674029 37674138 0.31 [{'connected_gene': 'C1orf109', 'score': 0.37}, {'connected_gene': 'GC01P037645', 'score': 0.31}]
chr1 GH01I037675 37675267 37677226 0.96 [{'connected_gene': 'C1orf109', 'score': 0.37}, {'connected_gene': 'GC01P037645', 'score': 0.29}]
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 GH01I037819 37819949 37820149 0.45 [{'connected_gene': 'MTF1', 'score': 16.12}, {'connected_gene': 'ENSG00000230955', 'score': 11.44}, {'connected_gene': 'CDCA8', 'score': 9.72}, {'connected_gene': 'C1orf109', 'score': 9.72}, {'connected_gene': 'INPP5B', 'score': 9.44}, {'connected_gene': 'ZC3H12A', 'score': 5.59}, {'connected_gene': 'GC01M037827', 'score': 0.77}, {'connected_gene': 'PIR39326', 'score': 0.77}, {'connected_gene': 'PIR53410', 'score': 0.44}]
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 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 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 GH01I037696 37696744 37698241 0.2 [{'connected_gene': 'EPHA10', 'score': 49.98}, {'connected_gene': 'INPP5B', 'score': 5.33}, {'connected_gene': 'C1orf109', 'score': 5.23}, {'connected_gene': 'CDCA8', 'score': 0.44}, {'connected_gene': 'PIR57553', 'score': 0.39}, {'connected_gene': 'GC01P037710', 'score': 0.39}]
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 GH01I037957 37957879 37960410 0.43 [{'connected_gene': 'EPHA10', 'score': 5.17}, {'connected_gene': 'SF3A3', 'score': 5.06}, {'connected_gene': 'FHL3', 'score': 4.75}, {'connected_gene': 'C1orf109', 'score': 4.6}, {'connected_gene': 'ENSG00000277168', 'score': 0.44}]
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 GH01I037214 37214183 37214870 0.2 [{'connected_gene': 'SF3A3', 'score': 4.34}, {'connected_gene': 'C1orf109', 'score': 4.29}, {'connected_gene': 'RNU6-636P', 'score': 0.39}, {'connected_gene': 'RNA5SP43', '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 GH01I037668 37668750 37668883 0.22 [{'connected_gene': 'GC01P037645', 'score': 0.34}, {'connected_gene': 'C1orf109', 'score': 0.34}]
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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