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
ENST00000261721 [[83685173, 83686977], [83687458, 83687605], [83689426, 83689514], [83698887, 83699080], [83710479, 83710677], [83718824, 83718930], [83725140, 83725297], [83735502, 83736106]] [[83686818, 83686977], [83687458, 83687605], [83689426, 83689514], [83698887, 83699080], [83710479, 83710677], [83718824, 83718930], [83725140, 83725297], [83735502, 83735903]]
ENST00000379403 [[83686712, 83686977], [83687458, 83687605], [83698887, 83699080], [83710479, 83710677], [83718824, 83718930], [83725140, 83725297], [83735502, 83735903]] [[83687502, 83687605], [83698887, 83699080], [83710479, 83710677], [83718824, 83718930], [83725140, 83725297], [83735502, 83735903]]
ENST00000559652 [[83687491, 83687605], [83689426, 83689514], [83697367, 83697480], [83698887, 83699080], [83710479, 83710677], [83725140, 83725231]] [[83710656, 83710677], [83725140, 83725231]]
ENST00000558344 [[83689497, 83689514], [83698887, 83699518]] None
ENST00000560015 [[83698294, 83698615], [83698887, 83699080], [83710479, 83710573]] None
NM_025238 [[83685174, 83686977], [83687458, 83687605], [83689426, 83689514], [83698887, 83699080], [83710479, 83710677], [83718824, 83718930], [83725140, 83725297], [83735502, 83736106]] [[83686818, 83686977], [83687458, 83687605], [83689426, 83689514], [83698887, 83699080], [83710479, 83710677], [83718824, 83718930], [83725140, 83725297], [83735502, 83735903]]
NM_001011885 [[83685174, 83686977], [83687458, 83687605], [83698887, 83699080], [83710479, 83710677], [83718824, 83718930], [83725140, 83725297], [83735502, 83736106]] [[83687502, 83687605], [83698887, 83699080], [83710479, 83710677], [83718824, 83718930], [83725140, 83725297], [83735502, 83735903]]
Promoter
Chrom Start End Description
chr15 83735569 83735608 CAGE_peak_4_at_BTBD1_5end
chr15 83735889 83735913 CAGE_peak_5_at_BTBD1_5end
chr15 83735922 83735936 CAGE_peak_3_at_BTBD1_5end
chr15 83735952 83736015 CAGE_peak_1_at_BTBD1_5end
chr15 83736064 83736075 CAGE_peak_8_at_BTBD1_5end
chr15 83736091 83736111 CAGE_peak_2_at_BTBD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 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 GH15I083320 83320149 83325306 1.17 [{'connected_gene': 'BNC1', 'score': 15.13}, {'connected_gene': 'HOMER2', 'score': 5.95}, {'connected_gene': 'C15orf40', 'score': 4.77}, {'connected_gene': 'BTBD1', 'score': 4.28}, {'connected_gene': 'LOC105370933', 'score': 0.34}, {'connected_gene': 'ENSG00000259986', 'score': 0.11}]
chr15 GH15I083304 83304557 83306759 1.09 [{'connected_gene': 'BNC1', 'score': 11.95}, {'connected_gene': 'BTBD1', 'score': 7.32}, {'connected_gene': 'LOC105370932', 'score': 0.34}, {'connected_gene': 'LOC105370933', 'score': 0.28}, {'connected_gene': 'ENSG00000259986', 'score': 0.13}]
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 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 GH15I083052 83052749 83054164 0.92 [{'connected_gene': 'TM6SF1', 'score': 12.01}, {'connected_gene': 'C15orf40', 'score': 10.95}, {'connected_gene': 'BTBD1', 'score': 10.34}, {'connected_gene': 'GOLGA6L10', 'score': 3.81}, {'connected_gene': 'GC15P083174', 'score': 0.44}, {'connected_gene': 'MIR4515', 'score': 0.39}, {'connected_gene': 'ENSG00000260351', 'score': 0.29}, {'connected_gene': 'ENSG00000260608', 'score': 0.26}, {'connected_gene': 'LOC105370928', 'score': 0.1}]
chr15 GH15I083188 83188779 83189096 0.24 [{'connected_gene': 'TM6SF1', 'score': 10.84}, {'connected_gene': 'C15orf40', 'score': 10.36}, {'connected_gene': 'BTBD1', 'score': 8.88}, {'connected_gene': 'HDGFL3', 'score': 1.94}, {'connected_gene': 'AP3B2', 'score': 1.18}, {'connected_gene': 'ENSG00000259986', 'score': 0.44}]
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 GH15I083164 83164539 83165722 0.43 [{'connected_gene': 'BTBD1', 'score': 10.26}, {'connected_gene': 'AP3B2', 'score': 5.25}, {'connected_gene': 'ENSG00000259986', 'score': 0.39}, {'connected_gene': 'GC15M083134', 'score': 0.31}, {'connected_gene': 'HDGFL3', 'score': 0.26}]
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 GH15I083199 83199389 83199538 0.66 [{'connected_gene': 'BTBD1', 'score': 11.33}, {'connected_gene': 'TM6SF1', 'score': 11.0}, {'connected_gene': 'C15orf40', 'score': 10.54}, {'connected_gene': 'HDGFL3', 'score': 0.44}, {'connected_gene': 'ENSG00000259986', 'score': 0.34}]
chr15 GH15I083110 83110801 83111000 0.31 [{'connected_gene': 'BTBD1', 'score': 10.21}, {'connected_gene': 'TM6SF1', 'score': 0.77}, {'connected_gene': 'ENSG00000260579', 'score': 0.77}]
chr15 GH15I083086 83086380 83089216 0.72 [{'connected_gene': 'BTBD1', 'score': 12.04}, {'connected_gene': 'C15orf40', 'score': 10.21}, {'connected_gene': 'HOMER2', 'score': 6.56}, {'connected_gene': 'WHAMM', 'score': 4.35}, {'connected_gene': 'GC15P083164', 'score': 0.44}, {'connected_gene': 'ENSG00000260351', 'score': 0.2}, {'connected_gene': 'LOC105370928', 'score': 0.08}]
chr15 GH15I083200 83199696 83201225 0.83 [{'connected_gene': 'BTBD1', 'score': 21.56}, {'connected_gene': 'C15orf40', 'score': 11.14}, {'connected_gene': 'TM6SF1', 'score': 11.0}, {'connected_gene': 'BNC1', 'score': 9.84}, {'connected_gene': 'AP3B2', 'score': 7.61}, {'connected_gene': 'ENSG00000260351', 'score': 7.32}, {'connected_gene': 'SH3GL3', 'score': 3.13}, {'connected_gene': 'HDGFL3', 'score': 0.44}, {'connected_gene': 'ENSG00000259986', 'score': 0.34}]
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 GH15I083310 83310018 83313215 1 [{'connected_gene': 'BTBD1', 'score': 5.41}, {'connected_gene': 'LOC105370932', 'score': 0.31}, {'connected_gene': 'BNC1', 'score': 0.31}, {'connected_gene': 'LOC105370933', 'score': 0.29}, {'connected_gene': 'ENSG00000259986', 'score': 0.12}]
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 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 GH15I083013 83013001 83013200 0.38 [{'connected_gene': 'C15orf40', 'score': 550.77}, {'connected_gene': 'ENSG00000260608', 'score': 550.77}, {'connected_gene': 'BTBD1', 'score': 11.32}, {'connected_gene': 'TM6SF1', 'score': 10.55}, {'connected_gene': 'ENSG00000273747', 'score': 0.44}, {'connected_gene': 'LOC105370928', 'score': 0.13}]
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 GH15I083091 83091956 83093518 1.67 [{'connected_gene': 'GC15P083164', 'score': 550.77}, {'connected_gene': 'GC15P083169', 'score': 550.77}, {'connected_gene': 'BTBD1', 'score': 12.37}, {'connected_gene': 'HOMER2', 'score': 6.62}, {'connected_gene': 'TM6SF1', 'score': 2.57}, {'connected_gene': 'LOC105370928', 'score': 0.08}]
chr15 GH15I083178 83178489 83179619 0.72 [{'connected_gene': 'ENSG00000259986', 'score': 550.77}, {'connected_gene': 'BTBD1', 'score': 19.73}, {'connected_gene': 'TM6SF1', 'score': 11.36}, {'connected_gene': 'C15orf40', 'score': 10.6}, {'connected_gene': 'HDGFL3', 'score': 0.31}, {'connected_gene': 'GC15M083134', 'score': 0.26}]
chr15 GH15I083111 83111919 83113724 1.02 [{'connected_gene': 'ENSG00000260579', 'score': 550.77}, {'connected_gene': 'BTBD1', 'score': 19.94}, {'connected_gene': 'C15orf40', 'score': 9.5}, {'connected_gene': 'HOMER2', 'score': 7.94}, {'connected_gene': 'AP3B2', 'score': 7.51}, {'connected_gene': 'GC15M083117', 'score': 0.77}, {'connected_gene': 'TM6SF1', 'score': 0.44}, {'connected_gene': 'HDGFL3', 'score': 0.15}]
chr15 GH15I083101 83100209 83100358 0.66 [{'connected_gene': 'PIR36535', 'score': 550.77}, {'connected_gene': 'BTBD1', 'score': 11.84}, {'connected_gene': 'C15orf40', 'score': 10.56}, {'connected_gene': 'TM6SF1', 'score': 8.14}, {'connected_gene': 'LOC105370928', 'score': 0.08}]
chr15 GH15I083100 83100401 83100600 0.58 [{'connected_gene': 'PIR36535', 'score': 550.77}, {'connected_gene': 'BTBD1', 'score': 11.84}, {'connected_gene': 'C15orf40', 'score': 10.56}, {'connected_gene': 'TM6SF1', 'score': 0.44}, {'connected_gene': 'LOC105370928', 'score': 0.08}]
chr15 GH15I083093 83093858 83095384 0.43 [{'connected_gene': 'GC15P083164', 'score': 550.77}, {'connected_gene': 'GC15P083169', 'score': 550.77}, {'connected_gene': 'BTBD1', 'score': 12.37}, {'connected_gene': 'PIR36535', 'score': 0.77}, {'connected_gene': 'LOC105370928', 'score': 0.08}]

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