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
ENST00000371421 [[140500105, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508483, 140508666], [140508750, 140508927], [140509010, 140509452], [140509525, 140509810]] [[140500169, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508483, 140508666], [140508750, 140508927], [140509010, 140509452], [140509525, 140509590]]
ENST00000491911 [[140505902, 140507458], [140507911, 140507962], [140508066, 140508666], [140508750, 140508927], [140509010, 140509811]] None
ENST00000475658 [[140508616, 140508666], [140508750, 140508927], [140509010, 140509350], [140509525, 140509812]] None
ENST00000483563 [[140500136, 140500287], [140507347, 140507458], [140507874, 140507962], [140508066, 140508221], [140508483, 140508666], [140508750, 140508766]] None
ENST00000431925 [[140500145, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508432, 140508528]] [[140500169, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508432, 140508528]]
ENST00000461627 [[140500147, 140500287], [140507347, 140507962], [140508066, 140508193]] [[140500169, 140500287], [140507347, 140507601]]
ENST00000419386 [[140500154, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508591, 140508666], [140508750, 140508927], [140509010, 140509137]] [[140500169, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508591, 140508666], [140508750, 140508927], [140509010, 140509137]]
ENST00000466367 [[140500180, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508663]] None
ENST00000471125 [[140500192, 140500287], [140507347, 140507458], [140508066, 140508221], [140508483, 140508666], [140508750, 140508818]] None
ENST00000495220 [[140500192, 140500287], [140507347, 140507458], [140507864, 140507962], [140508066, 140508221], [140508483, 140508666], [140508750, 140508855]] None
ENST00000497877 [[140506903, 140507025], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508483, 140508666], [140508750, 140508927], [140509010, 140509042]] None
ENST00000468983 [[140507732, 140507962], [140508066, 140508222]] None
NM_152285 [[140500091, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508483, 140508666], [140508750, 140508927], [140509010, 140509452], [140509525, 140509812]] [[140500169, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508483, 140508666], [140508750, 140508927], [140509010, 140509452], [140509525, 140509590]]
NM_001317968 [[140500091, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508483, 140508666], [140508750, 140508927], [140509010, 140509812]] [[140500169, 140500287], [140507347, 140507458], [140507911, 140507962], [140508066, 140508221], [140508483, 140508666], [140508750, 140508927], [140509010, 140509544]]
Promoter
Chrom Start End Description
chr9 140500087 140500123 CAGE_peak_2_at_ARRDC1_5end
chr9 140500126 140500149 CAGE_peak_1_at_ARRDC1_5end
chr9 140500175 140500192 CAGE_peak_4_at_ARRDC1_5end
chr9 140506839 140506847 CAGE_peak_9_at_ARRDC1_5end
chr9 140506865 140506902 CAGE_peak_5_at_ARRDC1_5end
chr9 140506925 140506963 CAGE_peak_3_at_ARRDC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I137686 137685629 137685878 0.49 [{'connected_gene': 'DPH7', 'score': 26.24}, {'connected_gene': 'EHMT1', 'score': 24.55}, {'connected_gene': 'EXD3', 'score': 22.7}, {'connected_gene': 'ANAPC2', 'score': 16.93}, {'connected_gene': 'MAN1B1', 'score': 13.58}, {'connected_gene': 'SNHG7', 'score': 12.78}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.57}, {'connected_gene': 'ARRDC1', 'score': 11.54}, {'connected_gene': 'ZMYND19', 'score': 11.18}, {'connected_gene': 'CCDC183-AS1', 'score': 9.78}, {'connected_gene': 'NOXA1', 'score': 9.55}, {'connected_gene': 'SETP5', 'score': 0.26}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137604 137604599 137609309 2.16 [{'connected_gene': 'ARRDC1', 'score': 550.77}, {'connected_gene': 'ENSG00000283411', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 16.59}, {'connected_gene': 'ZMYND19', 'score': 7.83}, {'connected_gene': 'MRPL41', 'score': 5.26}, {'connected_gene': 'ARRDC1-AS1', 'score': 0.39}, {'connected_gene': 'GC09M137538', 'score': 0.08}]
chr9 GH09I137605 137604429 137604578 0.58 [{'connected_gene': 'ARRDC1', 'score': 550.77}, {'connected_gene': 'ENSG00000283411', 'score': 550.77}, {'connected_gene': 'ZMYND19', 'score': 0.39}, {'connected_gene': 'GC09M137538', 'score': 0.08}]
chr9 GH09I137627 137627546 137631377 1.43 [{'connected_gene': 'EHMT1', 'score': 35.1}, {'connected_gene': 'ARRDC1', 'score': 12.36}, {'connected_gene': 'DPH7', 'score': 11.9}, {'connected_gene': 'ZMYND19', 'score': 11.64}, {'connected_gene': 'LOC651337', 'score': 4.55}, {'connected_gene': 'ANAPC2', 'score': 2.03}, {'connected_gene': 'NDOR1', 'score': 1.83}, {'connected_gene': 'ENSG00000274841', 'score': 0.44}, {'connected_gene': 'ENSG00000283411', 'score': 0.34}, {'connected_gene': 'GC09M137538', 'score': 0.09}]
chr9 GH09I137694 137694628 137695989 1.11 [{'connected_gene': 'EHMT1', 'score': 41.09}, {'connected_gene': 'ARRDC1', 'score': 16.89}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.83}, {'connected_gene': 'SETP5', 'score': 0.23}, {'connected_gene': 'GC09P137764', 'score': 0.2}, {'connected_gene': 'ENSG00000283411', 'score': 0.17}, {'connected_gene': 'GC09M137538', 'score': 0.13}]
chr9 GH09I137737 137737351 137739129 0.93 [{'connected_gene': 'EHMT1', 'score': 8.48}, {'connected_gene': 'ARRDC1', 'score': 6.04}, {'connected_gene': 'GC09P137764', 'score': 0.34}, {'connected_gene': 'GC09M137538', 'score': 0.18}, {'connected_gene': 'SETP5', 'score': 0.15}]
chr9 GH09I137685 137685189 137685338 0.7 [{'connected_gene': 'EHMT1', 'score': 11.57}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.57}, {'connected_gene': 'ARRDC1', 'score': 11.55}, {'connected_gene': 'ZMYND19', 'score': 11.18}, {'connected_gene': 'EXD3', 'score': 9.55}, {'connected_gene': 'NOXA1', 'score': 9.55}, {'connected_gene': 'SETP5', 'score': 0.26}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137687 137686189 137686296 0.31 [{'connected_gene': 'EHMT1', 'score': 11.57}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.57}, {'connected_gene': 'ARRDC1', 'score': 11.54}, {'connected_gene': 'ZMYND19', 'score': 11.18}, {'connected_gene': 'EXD3', 'score': 9.55}, {'connected_gene': 'NOXA1', 'score': 9.55}, {'connected_gene': 'SETP5', 'score': 0.26}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137725 137725962 137727013 0.31 [{'connected_gene': 'EHMT1', 'score': 11.18}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.18}, {'connected_gene': 'ARRDC1', 'score': 11.16}, {'connected_gene': 'LOC101928932', 'score': 4.22}, {'connected_gene': 'GC09P137764', 'score': 0.28}, {'connected_gene': 'SETP5', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.16}]
chr9 GH09I137698 137697178 137697515 0.43 [{'connected_gene': 'EHMT1', 'score': 11.83}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.83}, {'connected_gene': 'ARRDC1', 'score': 11.8}, {'connected_gene': 'SETP5', 'score': 0.22}, {'connected_gene': 'GC09P137764', 'score': 0.2}, {'connected_gene': 'ENSG00000283411', 'score': 0.16}, {'connected_gene': 'GC09M137538', 'score': 0.13}]
chr9 GH09I137756 137756446 137764461 1.48 [{'connected_gene': 'EHMT1', 'score': 17.86}, {'connected_gene': 'LOC651337', 'score': 9.07}, {'connected_gene': 'PNPLA7', 'score': 6.32}, {'connected_gene': 'ARRDC1', 'score': 6.18}, {'connected_gene': 'MRPL41', 'score': 4.29}, {'connected_gene': 'GC09P137764', 'score': 0.77}, {'connected_gene': 'GC09M137538', 'score': 0.22}, {'connected_gene': 'SETP5', 'score': 0.13}]
chr9 GH09I137592 137592300 137594296 1.24 [{'connected_gene': 'EHMT1', 'score': 18.6}, {'connected_gene': 'PNPLA7', 'score': 16.31}, {'connected_gene': 'GRIN1', 'score': 2.72}, {'connected_gene': 'RNF208', 'score': 1.81}, {'connected_gene': 'CACNA1B', 'score': 1.72}, {'connected_gene': 'TPRN', 'score': 1.33}, {'connected_gene': 'ZMYND19', 'score': 0.77}, {'connected_gene': 'ARRDC1', 'score': 0.39}, {'connected_gene': 'GC09M137538', 'score': 0.07}]
chr9 GH09I137610 137610296 137620832 2.48 [{'connected_gene': 'EHMT1', 'score': 611.95}, {'connected_gene': 'ANAPC2', 'score': 33.66}, {'connected_gene': 'DPH7', 'score': 30.34}, {'connected_gene': 'SNHG7', 'score': 26.75}, {'connected_gene': 'LOC651337', 'score': 18.35}, {'connected_gene': 'EXD3', 'score': 11.49}, {'connected_gene': 'MAN1B1', 'score': 10.37}, {'connected_gene': 'ZMYND19', 'score': 7.57}, {'connected_gene': 'ARRDC1-AS1', 'score': 0.77}, {'connected_gene': 'ARRDC1', 'score': 0.44}, {'connected_gene': 'ENSG00000283411', 'score': 0.44}, {'connected_gene': 'GC09M137538', 'score': 0.08}]
chr9 GH09I137678 137678234 137681918 1.12 [{'connected_gene': 'EHMT1', 'score': 42.52}, {'connected_gene': 'ZMYND19', 'score': 16.68}, {'connected_gene': 'ARRDC1-AS1', 'score': 12.09}, {'connected_gene': 'ARRDC1', 'score': 12.07}, {'connected_gene': 'EXD3', 'score': 9.56}, {'connected_gene': 'NOXA1', 'score': 9.56}, {'connected_gene': 'SETP5', 'score': 0.28}, {'connected_gene': 'ENSG00000283411', 'score': 0.19}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137682 137682437 137683000 1.05 [{'connected_gene': 'PNPLA7', 'score': 14.64}, {'connected_gene': 'EHMT1', 'score': 11.58}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.58}, {'connected_gene': 'ARRDC1', 'score': 11.55}, {'connected_gene': 'ZMYND19', 'score': 11.18}, {'connected_gene': 'EXD3', 'score': 9.56}, {'connected_gene': 'NOXA1', 'score': 9.56}, {'connected_gene': 'SETP5', 'score': 0.26}, {'connected_gene': 'ENSG00000283411', 'score': 0.18}, {'connected_gene': 'GC09P137764', 'score': 0.18}, {'connected_gene': 'GC09M137538', 'score': 0.12}]
chr9 GH09I137632 137632000 137633782 1.22 [{'connected_gene': 'ZMYND19', 'score': 18.89}, {'connected_gene': 'ARRDC1', 'score': 12.33}, {'connected_gene': 'DPH7', 'score': 11.9}, {'connected_gene': 'EHMT1', 'score': 4.73}, {'connected_gene': 'ENSG00000274841', 'score': 0.44}, {'connected_gene': 'ENSG00000283411', 'score': 0.31}, {'connected_gene': 'GC09M137538', 'score': 0.09}]
chr9 GH09I137638 137638681 137640199 0.77 [{'connected_gene': 'ENSG00000274841', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 60.66}, {'connected_gene': 'SNHG7', 'score': 12.69}, {'connected_gene': 'ARRDC1-AS1', 'score': 12.5}, {'connected_gene': 'ARRDC1', 'score': 12.46}, {'connected_gene': 'DPH7', 'score': 11.41}, {'connected_gene': 'ANAPC2', 'score': 10.03}, {'connected_gene': 'SETP5', 'score': 0.77}, {'connected_gene': 'ENSG00000283411', 'score': 0.29}, {'connected_gene': 'GC09M137538', 'score': 0.1}]