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
ENST00000368680 [[153651112, 153652305], [153652976, 153653176], [153653655, 153653769], [153654179, 153654315], [153654973, 153655065], [153655851, 153655987], [153656215, 153656300], [153657439, 153657560], [153658281, 153658356], [153658598, 153658676], [153659121, 153659226], [153659491, 153659563], [153659675, 153659832], [153660109, 153660265], [153660528, 153660697], [153661428, 153661575], [153661663, 153661787], [153661928, 153661997], [153662281, 153662456], [153662759, 153662858], [153665581, 153665673], [153665827, 153666468]] [[153651584, 153652305], [153652976, 153653176], [153653655, 153653769], [153654179, 153654315], [153654973, 153655065], [153655851, 153655987], [153656215, 153656300], [153657439, 153657560], [153658281, 153658356], [153658598, 153658676], [153659121, 153659226], [153659491, 153659563], [153659675, 153659832], [153660109, 153660265], [153660528, 153660697], [153661428, 153661575], [153661663, 153661787], [153661928, 153661997], [153662281, 153662456], [153662759, 153662858], [153665581, 153665673], [153665827, 153665890]]
ENST00000413826 [[153653276, 153653505], [153654024, 153654268]] None
ENST00000368677 [[153661199, 153661575], [153661663, 153661787], [153661928, 153661997], [153662281, 153662456], [153662759, 153662858], [153665581, 153666444]] None
NM_000906 [[153651163, 153652305], [153652976, 153653176], [153653655, 153653769], [153654179, 153654315], [153654973, 153655065], [153655851, 153655987], [153656215, 153656300], [153657439, 153657560], [153658281, 153658356], [153658598, 153658676], [153659121, 153659226], [153659491, 153659563], [153659675, 153659832], [153660109, 153660265], [153660528, 153660697], [153661428, 153661575], [153661663, 153661787], [153661928, 153661997], [153662281, 153662456], [153662759, 153662858], [153665581, 153665673], [153665827, 153666468]] [[153651584, 153652305], [153652976, 153653176], [153653655, 153653769], [153654179, 153654315], [153654973, 153655065], [153655851, 153655987], [153656215, 153656300], [153657439, 153657560], [153658281, 153658356], [153658598, 153658676], [153659121, 153659226], [153659491, 153659563], [153659675, 153659832], [153660109, 153660265], [153660528, 153660697], [153661428, 153661575], [153661663, 153661787], [153661928, 153661997], [153662281, 153662456], [153662759, 153662858], [153665581, 153665673], [153665827, 153665890]]
Promoter
Chrom Start End Description
chr1 153650730 153650735 CAGE_peak_20_at_NPR1_5end
chr1 153650755 153650771 CAGE_peak_8_at_NPR1_5end
chr1 153651078 153651140 CAGE_peak_1_at_NPR1_5end
chr1 153651156 153651171 CAGE_peak_2_at_NPR1_5end
chr1 153651189 153651210 CAGE_peak_4_at_NPR1_5end
chr1 153651211 153651245 CAGE_peak_3_at_NPR1_5end
chr1 153651267 153651278 CAGE_peak_6_at_NPR1_5end
chr1 153651314 153651325 CAGE_peak_7_at_NPR1_5end
chr1 153652578 153652638 CAGE_peak_5_at_NPR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I153731 153731995 153733212 0.69 [{'connected_gene': 'DENND4B', 'score': 11.96}, {'connected_gene': 'ILF2', 'score': 11.58}, {'connected_gene': 'NPR1', 'score': 11.49}, {'connected_gene': 'SNAPIN', 'score': 10.58}, {'connected_gene': 'C1orf189', 'score': 8.5}, {'connected_gene': 'INTS3', 'score': 0.77}, {'connected_gene': 'ENSG00000243613', 'score': 0.37}]
chr1 GH01I153816 153816017 153816953 0.31 [{'connected_gene': 'DENND4B', 'score': 14.94}, {'connected_gene': 'CREB3L4', 'score': 11.55}, {'connected_gene': 'SLC39A1', 'score': 11.55}, {'connected_gene': 'JTB', 'score': 11.54}, {'connected_gene': 'GATAD2B', 'score': 11.44}, {'connected_gene': 'RAB13', 'score': 10.94}, {'connected_gene': 'RPL34P5', 'score': 10.94}, {'connected_gene': 'RPS27', 'score': 10.94}, {'connected_gene': 'CRTC2', 'score': 10.83}, {'connected_gene': 'NPR1', 'score': 10.01}, {'connected_gene': 'ENSG00000233222', 'score': 9.9}, {'connected_gene': 'ENSG00000243613', 'score': 9.89}, {'connected_gene': 'LOC105371448', 'score': 0.37}, {'connected_gene': 'PIR50903', 'score': 0.31}]
chr1 GH01I153727 153727377 153731582 2.22 [{'connected_gene': 'INTS3', 'score': 550.77}, {'connected_gene': 'UBAP2L', 'score': 36.87}, {'connected_gene': 'ILF2', 'score': 34.09}, {'connected_gene': 'S100A1', 'score': 17.97}, {'connected_gene': 'SLC27A3', 'score': 17.4}, {'connected_gene': 'CRTC2', 'score': 11.91}, {'connected_gene': 'NPR1', 'score': 11.49}, {'connected_gene': 'ENSG00000233222', 'score': 11.36}, {'connected_gene': 'ENSG00000243613', 'score': 11.36}, {'connected_gene': 'CHTOP', 'score': 11.29}, {'connected_gene': 'SNAPIN', 'score': 10.58}, {'connected_gene': 'DENND4B', 'score': 10.23}, {'connected_gene': 'C1orf189', 'score': 8.5}]
chr1 GH01I153561 153561172 153569950 2.27 [{'connected_gene': 'S100A2', 'score': 552.94}, {'connected_gene': 'S100A6', 'score': 15.88}, {'connected_gene': 'S100A3', 'score': 15.05}, {'connected_gene': 'S100A5', 'score': 12.92}, {'connected_gene': 'ENSG00000238279', 'score': 12.87}, {'connected_gene': 'S100A16', 'score': 12.57}, {'connected_gene': 'S100A13', 'score': 12.27}, {'connected_gene': 'S100A14', 'score': 12.24}, {'connected_gene': 'SNAPIN', 'score': 10.36}, {'connected_gene': 'S100A1', 'score': 10.23}, {'connected_gene': 'CHTOP', 'score': 10.23}, {'connected_gene': 'NPR1', 'score': 9.68}, {'connected_gene': 'S100A9', 'score': 9.64}, {'connected_gene': 'PGLYRP4', 'score': 9.37}, {'connected_gene': 'INTS3', 'score': 9.33}, {'connected_gene': 'ENSG00000233222', 'score': 9.32}, {'connected_gene': 'ENSG00000243613', 'score': 9.32}, {'connected_gene': 'RNU6-160P', 'score': 9.16}, {'connected_gene': 'S100A4', 'score': 6.77}, {'connected_gene': 'S100A7L2', 'score': 2.46}, {'connected_gene': 'PGLYRP3', 'score': 1.35}]
chr1 GH01I153692 153692781 153694437 0.38 [{'connected_gene': 'S100A1', 'score': 38.75}, {'connected_gene': 'NUP210L', 'score': 9.15}, {'connected_gene': 'MIR8083', 'score': 0.77}, {'connected_gene': 'NPR1', 'score': 0.39}, {'connected_gene': 'RN7SL372P', 'score': 0.39}]
chr1 GH01I153684 153684578 153689819 0.62 [{'connected_gene': 'S100A1', 'score': 28.14}, {'connected_gene': 'INTS3', 'score': 14.4}, {'connected_gene': 'UBAP2L', 'score': 12.58}, {'connected_gene': 'ATP8B2', 'score': 11.96}, {'connected_gene': 'S100A16', 'score': 5.2}, {'connected_gene': 'MIR8083', 'score': 0.77}, {'connected_gene': 'NPR1', 'score': 0.44}]
chr1 GH01I153682 153682598 153684437 0.64 [{'connected_gene': 'S100A1', 'score': 46.41}, {'connected_gene': 'NPR1', 'score': 0.77}, {'connected_gene': 'MIR8083', 'score': 0.44}]
chr1 GH01I153733 153733766 153735980 0.99 [{'connected_gene': 'S100A1', 'score': 23.78}, {'connected_gene': 'ILF2', 'score': 11.58}, {'connected_gene': 'NPR1', 'score': 11.48}, {'connected_gene': 'SNAPIN', 'score': 10.57}, {'connected_gene': 'CHTOP', 'score': 10.04}, {'connected_gene': 'S100A13', 'score': 10.04}, {'connected_gene': 'C1orf189', 'score': 8.5}, {'connected_gene': 'INTS3', 'score': 0.44}, {'connected_gene': 'ENSG00000243613', 'score': 0.37}]
chr1 GH01I153771 153771068 153771984 0.57 [{'connected_gene': 'S100A1', 'score': 7.08}, {'connected_gene': 'SLC27A3', 'score': 6.11}, {'connected_gene': 'NPR1', 'score': 5.69}, {'connected_gene': 'PIR62645', 'score': 0.77}, {'connected_gene': 'PIR45271', 'score': 0.39}, {'connected_gene': 'INTS3', 'score': 0.26}]
chr1 GH01I153677 153677601 153680894 1.87 [{'connected_gene': 'NPR1', 'score': 550.77}, {'connected_gene': 'UBAP2L', 'score': 14.32}, {'connected_gene': 'SLC27A3', 'score': 12.49}, {'connected_gene': 'CRTC2', 'score': 11.89}, {'connected_gene': 'CHTOP', 'score': 11.38}, {'connected_gene': 'S100A13', 'score': 4.67}, {'connected_gene': 'MIR8083', 'score': 0.39}]
chr1 GH01I154005 154005919 154006516 0.2 [{'connected_gene': 'NPR1', 'score': 10.31}, {'connected_gene': 'UBAP2L', 'score': 9.84}, {'connected_gene': 'SNORA58B', 'score': 9.83}, {'connected_gene': 'C1orf189', 'score': 9.81}, {'connected_gene': 'ENSG00000233222', 'score': 9.56}, {'connected_gene': 'ENSG00000243613', 'score': 9.56}, {'connected_gene': 'S100A14', 'score': 9.09}, {'connected_gene': 'S100A16', 'score': 9.09}, {'connected_gene': 'RPL34P5', 'score': 0.39}, {'connected_gene': 'RNU6-179P', 'score': 0.29}, {'connected_gene': 'NUP210L', 'score': 0.11}]
chr1 GH01I153577 153577722 153579717 0.77 [{'connected_gene': 'S100A16', 'score': 11.49}, {'connected_gene': 'S100A14', 'score': 11.47}, {'connected_gene': 'S100A1', 'score': 11.29}, {'connected_gene': 'S100A13', 'score': 11.27}, {'connected_gene': 'CHTOP', 'score': 11.27}, {'connected_gene': 'S100A3', 'score': 10.59}, {'connected_gene': 'SNAPIN', 'score': 10.47}, {'connected_gene': 'ILF2', 'score': 10.27}, {'connected_gene': 'NPR1', 'score': 10.22}, {'connected_gene': 'ENSG00000233222', 'score': 9.93}, {'connected_gene': 'ENSG00000243613', 'score': 9.93}, {'connected_gene': 'INTS3', 'score': 9.83}, {'connected_gene': 'PGLYRP4', 'score': 9.3}, {'connected_gene': 'RNU6-160P', 'score': 9.07}, {'connected_gene': 'PIR44602', 'score': 0.44}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1 GH01I153803 153803402 153807440 1.23 [{'connected_gene': 'CREB3L4', 'score': 16.34}, {'connected_gene': 'GATAD2B', 'score': 11.15}, {'connected_gene': 'CRTC2', 'score': 11.06}, {'connected_gene': 'ENSG00000233222', 'score': 10.76}, {'connected_gene': 'ENSG00000243613', 'score': 10.76}, {'connected_gene': 'INTS3', 'score': 10.71}, {'connected_gene': 'NPR1', 'score': 9.83}, {'connected_gene': 'HAX1', 'score': 8.35}, {'connected_gene': 'S100A1', 'score': 7.17}, {'connected_gene': 'LOC105371448', 'score': 0.77}, {'connected_gene': 'PIR50903', 'score': 0.28}]
chr1 GH01I153789 153789280 153792599 1.58 [{'connected_gene': 'CREB3L4', 'score': 12.31}, {'connected_gene': 'IL6R', 'score': 4.23}, {'connected_gene': 'NPR1', 'score': 1.55}, {'connected_gene': 'LOC343052', 'score': 0.77}, {'connected_gene': 'ENSG00000207039', 'score': 0.44}, {'connected_gene': 'GC01M153786', 'score': 0.44}, {'connected_gene': 'GATAD2B', 'score': 0.12}]
chr1 GH01I154000 154000965 154002554 0.58 [{'connected_gene': 'CREB3L4', 'score': 10.87}, {'connected_gene': 'CRTC2', 'score': 10.41}, {'connected_gene': 'DENND4B', 'score': 9.8}, {'connected_gene': 'NPR1', 'score': 9.77}, {'connected_gene': 'ENSG00000243613', 'score': 9.74}, {'connected_gene': 'ENSG00000233222', 'score': 9.74}, {'connected_gene': 'UBAP2L', 'score': 9.64}, {'connected_gene': 'SNORA58B', 'score': 9.63}, {'connected_gene': 'C1orf189', 'score': 9.43}, {'connected_gene': 'S100A6', 'score': 4.21}, {'connected_gene': 'RPL34P5', 'score': 0.44}, {'connected_gene': 'RNU6-179P', 'score': 0.28}, {'connected_gene': 'NUP210L', 'score': 0.1}]
chr1 GH01I153779 153779273 153781350 0.65 [{'connected_gene': 'ENSG00000233222', 'score': 11.22}, {'connected_gene': 'ENSG00000243613', 'score': 11.22}, {'connected_gene': 'INTS3', 'score': 11.14}, {'connected_gene': 'NPR1', 'score': 11.07}, {'connected_gene': 'ILF2', 'score': 10.76}, {'connected_gene': 'RAB13', 'score': 10.53}, {'connected_gene': 'RPL34P5', 'score': 10.53}, {'connected_gene': 'GATAD2B', 'score': 10.53}, {'connected_gene': 'RPS27', 'score': 10.53}, {'connected_gene': 'HAX1', 'score': 6.63}, {'connected_gene': 'S100A16', 'score': 6.13}, {'connected_gene': 'ENSG00000273026', 'score': 6.0}, {'connected_gene': 'ENSG00000272030', 'score': 5.08}, {'connected_gene': 'GC01M153786', 'score': 0.44}, {'connected_gene': 'ENSG00000207039', 'score': 0.44}, {'connected_gene': 'SLC27A3', 'score': 0.44}]
chr1 GH01I153888 153888093 153889186 0.74 [{'connected_gene': 'ENSG00000236327', 'score': 550.77}, {'connected_gene': 'GATAD2B', 'score': 11.63}, {'connected_gene': 'CREB3L4', 'score': 11.03}, {'connected_gene': 'SLC39A1', 'score': 11.03}, {'connected_gene': 'DENND4B', 'score': 10.97}, {'connected_gene': 'CRTC2', 'score': 10.88}, {'connected_gene': 'JTB', 'score': 10.8}, {'connected_gene': 'RAB13', 'score': 10.57}, {'connected_gene': 'RPS27', 'score': 10.56}, {'connected_gene': 'RPL34P5', 'score': 10.56}, {'connected_gene': 'SLC27A3', 'score': 10.32}, {'connected_gene': 'NPR1', 'score': 9.82}, {'connected_gene': 'ILF2', 'score': 9.65}, {'connected_gene': 'ENSG00000233222', 'score': 9.46}, {'connected_gene': 'ENSG00000243613', 'score': 9.46}, {'connected_gene': 'INTS3', 'score': 9.21}, {'connected_gene': 'UBAP2L', 'score': 9.08}, {'connected_gene': 'SNORA58B', 'score': 9.07}, {'connected_gene': 'C1orf189', 'score': 8.43}, {'connected_gene': 'HAX1', 'score': 8.25}, {'connected_gene': 'LOC645965', 'score': 0.28}]

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