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
ENST00000373055 [[38158089, 38158456], [38158576, 38158705], [38161581, 38161622], [38164576, 38164649], [38166107, 38166193], [38167425, 38167490], [38168923, 38169019], [38171112, 38171239], [38172649, 38172736], [38173993, 38175391]] [[38158362, 38158456], [38158576, 38158705], [38161581, 38161622], [38164576, 38164649], [38166107, 38166193], [38167425, 38167490], [38168923, 38169019], [38171112, 38171239], [38172649, 38172736], [38173993, 38174038]]
ENST00000327331 [[38158152, 38158250], [38158347, 38158456], [38158576, 38158705], [38161581, 38161622], [38164576, 38164649], [38166107, 38166193], [38167425, 38167490], [38168923, 38169019], [38171112, 38171239], [38172649, 38172736], [38173993, 38175385]] [[38158362, 38158456], [38158576, 38158705], [38161581, 38161622], [38164576, 38164649], [38166107, 38166193], [38167425, 38167490], [38168923, 38169019], [38171112, 38171239], [38172649, 38172736], [38173993, 38174038]]
NM_018101 [[38158072, 38158250], [38158347, 38158456], [38158576, 38158705], [38161581, 38161622], [38164576, 38164649], [38166107, 38166193], [38167425, 38167490], [38168923, 38169019], [38171112, 38171239], [38172649, 38172736], [38173993, 38175391]] [[38158362, 38158456], [38158576, 38158705], [38161581, 38161622], [38164576, 38164649], [38166107, 38166193], [38167425, 38167490], [38168923, 38169019], [38171112, 38171239], [38172649, 38172736], [38173993, 38174038]]
NM_001256875 [[38158072, 38158456], [38158576, 38158705], [38161581, 38161622], [38164576, 38164649], [38166107, 38166193], [38167425, 38167490], [38168923, 38169019], [38171112, 38171239], [38172649, 38172736], [38173993, 38175391]] [[38158362, 38158456], [38158576, 38158705], [38161581, 38161622], [38164576, 38164649], [38166107, 38166193], [38167425, 38167490], [38168923, 38169019], [38171112, 38171239], [38172649, 38172736], [38173993, 38174038]]
Promoter
Chrom Start End Description
chr1 38158135 38158174 CAGE_peak_2_at_CDCA8_5end
chr1 38158178 38158237 CAGE_peak_1_at_CDCA8_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 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 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 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 GH01I037705 37705109 37705258 0.38 [{'connected_gene': 'EPHA10', 'score': 10.6}, {'connected_gene': 'ENSG00000233728', 'score': 10.15}, {'connected_gene': 'MTF1', 'score': 9.89}, {'connected_gene': 'ENSG00000230955', 'score': 9.88}, {'connected_gene': 'PIR57553', 'score': 0.77}, {'connected_gene': 'GC01P037710', 'score': 0.77}, {'connected_gene': 'CDCA8', 'score': 0.39}]
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 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 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 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}]