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
ENST00000304191 [[83654958, 83655121], [83656087, 83656136], [83657761, 83657940], [83658632, 83659809]] [[83657770, 83657940], [83658632, 83658819]]
Promoter
Chrom Start End Description
chr15 83654950 83654978 CAGE_peak_1_at_FAM103A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I082950 82950863 82953437 1.81 [{'connected_gene': 'HOMER2', 'score': 550.29}, {'connected_gene': 'FAM103A1', 'score': 38.36}, {'connected_gene': 'AP3B2', 'score': 15.44}, {'connected_gene': 'C15orf40', 'score': 10.32}, {'connected_gene': 'FSD2', 'score': 9.79}, {'connected_gene': 'GC15M082960', 'score': 0.44}, {'connected_gene': 'PIR42152', 'score': 0.29}, {'connected_gene': 'LOC105370928', 'score': 0.22}]
chr15 GH15I082985 82985288 82987238 2.05 [{'connected_gene': 'FAM103A1', 'score': 580.87}, {'connected_gene': 'HOMER2', 'score': 569.54}, {'connected_gene': 'AP3B2', 'score': 8.65}, {'connected_gene': 'GOLGA6L10', 'score': 6.07}, {'connected_gene': 'GC15M082990', 'score': 0.39}, {'connected_gene': 'LOC105370928', 'score': 0.16}]
chr15 GH15I082922 82922506 82923185 0.31 [{'connected_gene': 'FAM103A1', 'score': 22.03}, {'connected_gene': 'HOMER2', 'score': 11.39}, {'connected_gene': 'BTBD1', 'score': 4.86}, {'connected_gene': 'PIR42152', 'score': 0.77}, {'connected_gene': 'LOC105370928', 'score': 0.29}, {'connected_gene': 'GC15M082960', 'score': 0.28}]
chr15 GH15I083057 83057330 83058620 0.31 [{'connected_gene': 'FAM103A1', 'score': 11.78}, {'connected_gene': 'HOMER2', 'score': 10.81}, {'connected_gene': 'BTBD1', 'score': 10.16}, {'connected_gene': 'MIR4515', 'score': 0.44}, {'connected_gene': 'GC15P083174', 'score': 0.39}, {'connected_gene': 'ENSG00000260351', 'score': 0.28}, {'connected_gene': 'ENSG00000260608', 'score': 0.25}, {'connected_gene': 'LOC105370928', 'score': 0.1}]
chr15 GH15I082894 82894569 82896008 0.52 [{'connected_gene': 'FAM103A1', 'score': 14.58}, {'connected_gene': 'HOMER2', 'score': 11.23}, {'connected_gene': 'GOLGA6L9', 'score': 6.99}, {'connected_gene': 'CSPG4P10', 'score': 4.96}, {'connected_gene': 'LOC105370928', 'score': 0.77}, {'connected_gene': 'GC15M082906', 'score': 0.39}]
chr15 GH15I082999 82999988 83001158 0.89 [{'connected_gene': 'FAM103A1', 'score': 26.69}, {'connected_gene': 'BTBD1', 'score': 11.4}, {'connected_gene': 'AP3B2', 'score': 10.14}, {'connected_gene': 'HOMER2', 'score': 5.66}, {'connected_gene': 'GC15M082990', 'score': 0.77}, {'connected_gene': 'PIR34182', 'score': 0.44}, {'connected_gene': 'GC15M083024', 'score': 0.44}, {'connected_gene': 'C15orf40', 'score': 0.39}, {'connected_gene': 'LOC105370928', 'score': 0.14}]
chr15 GH15I082852 82852612 82853979 0.74 [{'connected_gene': 'FAM103A1', 'score': 26.82}, {'connected_gene': 'C15orf40', 'score': 11.15}, {'connected_gene': 'HOMER2', 'score': 11.14}, {'connected_gene': 'FSD2', 'score': 10.51}, {'connected_gene': 'WHAMM', 'score': 9.0}, {'connected_gene': 'GC15M082841', 'score': 0.44}, {'connected_gene': 'GC15P082870', 'score': 0.37}]
chr15 GH15I082944 82944969 82945098 0.31 [{'connected_gene': 'FAM103A1', 'score': 25.76}, {'connected_gene': 'C15orf40', 'score': 10.2}, {'connected_gene': 'AP3B2', 'score': 9.73}, {'connected_gene': 'GC15M082960', 'score': 0.37}, {'connected_gene': 'PIR42152', 'score': 0.31}, {'connected_gene': 'HOMER2', 'score': 0.26}, {'connected_gene': 'LOC105370928', 'score': 0.23}]
chr15 GH15I082848 82848958 82851175 1.21 [{'connected_gene': 'FAM103A1', 'score': 26.82}, {'connected_gene': 'C15orf40', 'score': 21.82}, {'connected_gene': 'WHAMM', 'score': 11.97}, {'connected_gene': 'HOMER2', 'score': 11.14}, {'connected_gene': 'FSD2', 'score': 10.63}, {'connected_gene': 'EFL1', 'score': 9.85}, {'connected_gene': 'GOLGA6L9', 'score': 6.27}, {'connected_gene': 'GC15M082841', 'score': 0.77}, {'connected_gene': 'GC15P082870', 'score': 0.37}]
chr15 GH15I082855 82855363 82857367 1.03 [{'connected_gene': 'FAM103A1', 'score': 25.86}, {'connected_gene': 'C15orf40', 'score': 11.13}, {'connected_gene': 'WHAMM', 'score': 7.88}, {'connected_gene': 'GOLGA6L9', 'score': 7.07}, {'connected_gene': 'GC15P082870', 'score': 0.39}, {'connected_gene': 'GC15M082841', 'score': 0.39}, {'connected_gene': 'HOMER2', 'score': 0.13}]
chr15 GH15I082941 82941485 82943979 1.06 [{'connected_gene': 'FAM103A1', 'score': 20.82}, {'connected_gene': 'C15orf40', 'score': 17.09}, {'connected_gene': 'WHAMM', 'score': 14.01}, {'connected_gene': 'RPL9P9', 'score': 10.85}, {'connected_gene': 'AP3B2', 'score': 6.53}, {'connected_gene': 'GC15M082960', 'score': 0.37}, {'connected_gene': 'PIR42152', 'score': 0.34}, {'connected_gene': 'HOMER2', 'score': 0.26}, {'connected_gene': 'LOC105370928', 'score': 0.25}]
chr15 GH15I082935 82935499 82938022 1.12 [{'connected_gene': 'FAM103A1', 'score': 14.67}, {'connected_gene': 'C15orf40', 'score': 8.84}, {'connected_gene': 'PIR42152', 'score': 0.37}, {'connected_gene': 'GC15M082960', 'score': 0.31}, {'connected_gene': 'LOC105370928', 'score': 0.26}, {'connected_gene': 'HOMER2', 'score': 0.25}]
chr15 GH15I083377 83377223 83381092 1.22 [{'connected_gene': 'BNC1', 'score': 16.99}, {'connected_gene': 'C15orf40', 'score': 16.19}, {'connected_gene': 'FAM103A1', 'score': 9.07}, {'connected_gene': 'GOLGA6L9', 'score': 4.46}, {'connected_gene': 'LOC105370934', 'score': 0.39}, {'connected_gene': 'SH3GL3', 'score': 0.2}, {'connected_gene': 'ENSG00000259986', 'score': 0.08}]
chr15 GH15I083277 83277587 83289950 2.53 [{'connected_gene': 'BNC1', 'score': 562.92}, {'connected_gene': 'LOC105370932', 'score': 550.77}, {'connected_gene': 'BTBD1', 'score': 8.9}, {'connected_gene': 'HDGFL3', 'score': 8.22}, {'connected_gene': 'GOLGA6L9', 'score': 7.96}, {'connected_gene': 'AP3B2', 'score': 7.57}, {'connected_gene': 'FAM103A1', 'score': 5.21}, {'connected_gene': 'HOMER2', 'score': 4.99}, {'connected_gene': 'UBE2Q2P2', 'score': 4.04}, {'connected_gene': 'ENSG00000259986', 'score': 0.15}]
chr15 GH15I083446 83446429 83448001 2.13 [{'connected_gene': 'SH3GL3', 'score': 559.59}, {'connected_gene': 'GOLGA6L4', 'score': 26.15}, {'connected_gene': 'C15orf40', 'score': 23.15}, {'connected_gene': 'WHAMM', 'score': 22.98}, {'connected_gene': 'SNHG21', 'score': 12.93}, {'connected_gene': 'FAM103A1', 'score': 10.91}, {'connected_gene': 'LOC103171574', 'score': 10.64}, {'connected_gene': 'CSPG4P11', 'score': 10.4}, {'connected_gene': 'GOLGA2P7', 'score': 3.96}, {'connected_gene': 'GC15M083457', 'score': 0.39}]
chr15 GH15I082570 82570759 82572662 2.06 [{'connected_gene': 'CPEB1', 'score': 553.37}, {'connected_gene': 'AP3B2', 'score': 29.71}, {'connected_gene': 'FAM103A1', 'score': 13.51}, {'connected_gene': 'CSPG4P10', 'score': 10.37}, {'connected_gene': 'ENSG00000260836', 'score': 0.37}, {'connected_gene': 'GC15P082601', 'score': 0.29}]
chr15 GH15I082646 82646999 82648486 1.94 [{'connected_gene': 'CPEB1', 'score': 550.77}, {'connected_gene': 'GC15P082650', 'score': 550.77}, {'connected_gene': 'CPEB1-AS1', 'score': 550.77}, {'connected_gene': 'WHAMM', 'score': 26.02}, {'connected_gene': 'C15orf40', 'score': 25.61}, {'connected_gene': 'CSPG4P10', 'score': 22.32}, {'connected_gene': 'FAM103A1', 'score': 12.64}, {'connected_gene': 'GOLGA6L9', 'score': 10.34}]
chr15 GH15I082539 82539200 82541401 1.74 [{'connected_gene': 'RPS17', 'score': 550.77}, {'connected_gene': 'ENSG00000278013', 'score': 550.77}, {'connected_gene': 'PIR43638', 'score': 550.77}, {'connected_gene': 'C15orf40', 'score': 13.83}, {'connected_gene': 'FAM103A1', 'score': 12.63}, {'connected_gene': 'WHAMM', 'score': 10.51}, {'connected_gene': 'AP3B2', 'score': 10.5}, {'connected_gene': 'ENSG00000260836', 'score': 0.37}]
chr15 GH15I083077 83077409 83079004 0.63 [{'connected_gene': 'TM6SF1', 'score': 12.42}, {'connected_gene': 'FAM103A1', 'score': 11.6}, {'connected_gene': 'C15orf40', 'score': 10.69}, {'connected_gene': 'BTBD1', 'score': 0.39}, {'connected_gene': 'GC15P083164', 'score': 0.37}, {'connected_gene': 'ENSG00000260351', 'score': 0.22}, {'connected_gene': 'LOC105370928', 'score': 0.09}]
chr15 GH15I083291 83291706 83293657 0.4 [{'connected_gene': 'BTBD1', 'score': 8.74}, {'connected_gene': 'FAM103A1', 'score': 4.86}, {'connected_gene': 'LOC105370932', 'score': 0.44}, {'connected_gene': 'BNC1', 'score': 0.44}, {'connected_gene': 'LOC105370933', 'score': 0.23}, {'connected_gene': 'ENSG00000259986', 'score': 0.14}]
chr15 GH15I083082 83082059 83084517 0.64 [{'connected_gene': 'BTBD1', 'score': 14.07}, {'connected_gene': 'TM6SF1', 'score': 12.59}, {'connected_gene': 'FAM103A1', 'score': 10.94}, {'connected_gene': 'C15orf40', 'score': 10.22}, {'connected_gene': 'HOMER2', 'score': 8.6}, {'connected_gene': 'GC15P083164', 'score': 0.39}, {'connected_gene': 'ENSG00000260351', 'score': 0.21}, {'connected_gene': 'LOC105370928', 'score': 0.08}]
chr15 GH15I083069 83069200 83069478 0.87 [{'connected_gene': 'BTBD1', 'score': 565.13}, {'connected_gene': 'TM6SF1', 'score': 12.23}, {'connected_gene': 'FAM103A1', 'score': 11.82}, {'connected_gene': 'C15orf40', 'score': 10.42}, {'connected_gene': 'GC15P083164', 'score': 0.34}, {'connected_gene': 'ENSG00000260351', 'score': 0.25}, {'connected_gene': 'LOC105370928', 'score': 0.1}]
chr15 GH15I083060 83060958 83068486 2.75 [{'connected_gene': 'BTBD1', 'score': 564.95}, {'connected_gene': 'C15orf40', 'score': 19.92}, {'connected_gene': 'TM6SF1', 'score': 12.22}, {'connected_gene': 'SNHG21', 'score': 11.87}, {'connected_gene': 'FAM103A1', 'score': 11.77}, {'connected_gene': 'AP3B2', 'score': 8.1}, {'connected_gene': 'GOLGA6L9', 'score': 4.74}, {'connected_gene': 'WHAMM', 'score': 2.65}, {'connected_gene': 'MIR4515', 'score': 0.77}, {'connected_gene': 'GC15P083174', 'score': 0.37}, {'connected_gene': 'ENSG00000260351', 'score': 0.26}, {'connected_gene': 'ENSG00000260608', 'score': 0.23}, {'connected_gene': 'LOC105370928', 'score': 0.09}]
chr15 GH15I083204 83204647 83208949 1.97 [{'connected_gene': 'HDGFL3', 'score': 550.77}, {'connected_gene': 'C15orf40', 'score': 23.64}, {'connected_gene': 'WHAMM', 'score': 23.11}, {'connected_gene': 'RPL9P9', 'score': 21.51}, {'connected_gene': 'GOLGA6L9', 'score': 17.58}, {'connected_gene': 'FAM103A1', 'score': 10.94}, {'connected_gene': 'CSPG4P11', 'score': 10.39}, {'connected_gene': 'BTBD1', 'score': 10.33}, {'connected_gene': 'FABP5P8', 'score': 9.74}, {'connected_gene': 'AP3B2', 'score': 7.62}, {'connected_gene': 'ENSG00000259986', 'score': 0.31}]
chr15 GH15I082830 82830951 82833819 1.21 [{'connected_gene': 'WHAMM', 'score': 45.06}, {'connected_gene': 'FAM103A1', 'score': 10.92}, {'connected_gene': 'C15orf40', 'score': 8.36}, {'connected_gene': 'GOLGA6L9', 'score': 8.26}, {'connected_gene': 'GC15M082841', 'score': 0.39}]
chr15 GH15I082803 82803710 82813513 2.77 [{'connected_gene': 'WHAMM', 'score': 626.7}, {'connected_gene': 'FSD2', 'score': 550.77}, {'connected_gene': 'AP3B2', 'score': 26.17}, {'connected_gene': 'FAM103A1', 'score': 14.52}, {'connected_gene': 'SCARNA15', 'score': 11.34}, {'connected_gene': 'EFL1', 'score': 11.09}, {'connected_gene': 'GOLGA6L9', 'score': 9.76}, {'connected_gene': 'C15orf40', 'score': 4.53}, {'connected_gene': 'GC15M082841', 'score': 0.28}]
chr15 GH15I083010 83010085 83012834 2.09 [{'connected_gene': 'C15orf40', 'score': 592.17}, {'connected_gene': 'PIR34182', 'score': 550.77}, {'connected_gene': 'GC15M083024', 'score': 550.77}, {'connected_gene': 'ENSG00000260608', 'score': 550.77}, {'connected_gene': 'FAM103A1', 'score': 33.38}, {'connected_gene': 'WHAMM', 'score': 23.31}, {'connected_gene': 'ENSG00000260579', 'score': 17.94}, {'connected_gene': 'HOMER2', 'score': 16.1}, {'connected_gene': 'BTBD1', 'score': 15.07}, {'connected_gene': 'CPEB1-AS1', 'score': 11.86}, {'connected_gene': 'CPEB1', 'score': 11.78}, {'connected_gene': 'AP3B2', 'score': 9.94}, {'connected_gene': 'RPL9P9', 'score': 9.88}, {'connected_gene': 'TM6SF1', 'score': 9.68}, {'connected_gene': 'GOLGA6L9', 'score': 6.77}, {'connected_gene': 'LOC105370928', 'score': 0.13}]
chr15 GH15I083747 83747007 83747600 0.72 [{'connected_gene': 'RNU6-401P', 'score': 11.21}, {'connected_gene': 'FAM103A1', 'score': 4.25}, {'connected_gene': 'TUBAP4', 'score': 0.44}, {'connected_gene': 'GC15P083758', 'score': 0.39}, {'connected_gene': 'ADAMTSL3', 'score': 0.16}]
chr15 GH15I082916 82916335 82922335 1.09 [{'connected_gene': 'PIR42152', 'score': 550.77}, {'connected_gene': 'HOMER2', 'score': 36.94}, {'connected_gene': 'FAM103A1', 'score': 14.63}, {'connected_gene': 'BTBD1', 'score': 7.58}, {'connected_gene': 'AP3B2', 'score': 6.38}, {'connected_gene': 'GC15M082906', 'score': 0.39}, {'connected_gene': 'LOC105370928', 'score': 0.31}]
chr15 GH15I082844 82844420 82845512 0.8 [{'connected_gene': 'GC15M082841', 'score': 550.77}, {'connected_gene': 'FAM103A1', 'score': 14.54}, {'connected_gene': 'AP3B2', 'score': 9.69}, {'connected_gene': 'WHAMM', 'score': 0.28}, {'connected_gene': 'HOMER2', 'score': 0.11}]
chr15 GH15I082963 82963109 82964397 0.31 [{'connected_gene': 'GC15M082963', 'score': 550.77}, {'connected_gene': 'GC15M082960', 'score': 550.77}, {'connected_gene': 'FAM103A1', 'score': 17.29}, {'connected_gene': 'C15orf40', 'score': 10.41}, {'connected_gene': 'HOMER2', 'score': 0.34}, {'connected_gene': 'LOC105370928', 'score': 0.19}]

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