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
ENST00000562798 [[30934375, 30934473], [30937051, 30937252]] [[30937075, 30937252]]
ENST00000471231 [[30934391, 30934473], [30937089, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939951], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30960097]] [[30941480, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30958551]]
ENST00000338343 [[30935417, 30935780], [30937051, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939949], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30960104]] [[30937075, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939949], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30958551]]
ENST00000562319 [[30935895, 30936089], [30937051, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939949], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30958770]] [[30937075, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939949], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30958551]]
ENST00000380310 [[30935895, 30936089], [30937051, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939949], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30960104]] [[30936053, 30936089], [30937051, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939949], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30958551]]
ENST00000565690 [[30936970, 30937252], [30938628, 30938772], [30938893, 30938980], [30939787, 30939820], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30959339]] [[30937075, 30937252], [30938628, 30938772], [30938893, 30938980], [30939787, 30939820], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30958551]]
ENST00000427128 [[30937212, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939820], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30960104]] [[30937212, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939820], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30958551]]
ENST00000566320 [[30953695, 30953857], [30958050, 30958269], [30959168, 30959333]] [[30953695, 30953857], [30958050, 30958269], [30959168, 30959203]]
ENST00000565939 [[30953752, 30953857], [30958157, 30958269], [30958372, 30958972]] [[30953752, 30953857], [30958157, 30958269], [30958372, 30958523]]
NM_001282351 [[30934375, 30934473], [30937089, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939951], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30960104]] [[30941480, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30958551]]
NM_001099784 [[30935895, 30936089], [30937051, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939949], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30960104]] [[30936053, 30936089], [30937051, 30937252], [30938628, 30938772], [30938893, 30938980], [30939065, 30939284], [30939787, 30939949], [30941393, 30941905], [30953436, 30953600], [30953695, 30953857], [30958050, 30958269], [30958372, 30958551]]
Promoter
Chrom Start End Description
chr16 30934890 30934932 CAGE_peak_1_at_FBXL19_5end
chr16 30935164 30935196 CAGE_peak_2_at_FBXL19_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I030946 30946767 30951326 2.3 [{'connected_gene': 'SETD1A', 'score': 568.13}, {'connected_gene': 'PIR42450', 'score': 550.77}, {'connected_gene': 'ORAI3', 'score': 550.77}, {'connected_gene': 'ENSG00000261487', 'score': 550.77}, {'connected_gene': 'RNF40', 'score': 30.88}, {'connected_gene': 'ZNF646', 'score': 28.39}, {'connected_gene': 'HSD3B7', 'score': 22.43}, {'connected_gene': 'INO80E', 'score': 22.35}, {'connected_gene': 'FBRS', 'score': 22.1}, {'connected_gene': 'ZNF689', 'score': 18.97}, {'connected_gene': 'STX4', 'score': 12.62}, {'connected_gene': 'SMG1P5', 'score': 12.14}, {'connected_gene': 'ZNF688', 'score': 12.06}, {'connected_gene': 'ENSG00000260304', 'score': 11.98}, {'connected_gene': 'ZNF764', 'score': 11.25}, {'connected_gene': 'SRCAP', 'score': 11.13}, {'connected_gene': 'ZNF668', 'score': 10.99}, {'connected_gene': 'PRR14', 'score': 10.8}, {'connected_gene': 'ENSG00000260267', 'score': 10.49}, {'connected_gene': 'CCDC189', 'score': 10.27}, {'connected_gene': 'ENSG00000262766', 'score': 9.78}, {'connected_gene': 'FBXL19', 'score': 0.31}]
chr16 GH16I030937 30937106 30938021 0.38 [{'connected_gene': 'HSD3B7', 'score': 29.99}, {'connected_gene': 'KAT8', 'score': 3.92}, {'connected_gene': 'PIR56097', 'score': 0.44}, {'connected_gene': 'FBXL19-AS1', 'score': 0.39}, {'connected_gene': 'FBXL19', 'score': 0.39}]
chr16 GH16I030939 30939714 30943358 1.13 [{'connected_gene': 'HSD3B7', 'score': 41.09}, {'connected_gene': 'ZNF668', 'score': 22.48}, {'connected_gene': 'KAT8', 'score': 12.71}, {'connected_gene': 'SETD1A', 'score': 12.17}, {'connected_gene': 'ZNF646', 'score': 11.35}, {'connected_gene': 'MIR762', 'score': 11.33}, {'connected_gene': 'CTF1', 'score': 11.33}, {'connected_gene': 'BCL7C', 'score': 11.33}, {'connected_gene': 'CCDC189', 'score': 11.12}, {'connected_gene': 'RNF40', 'score': 11.12}, {'connected_gene': 'STX1B', 'score': 11.08}, {'connected_gene': 'STX4', 'score': 11.03}, {'connected_gene': 'FUS', 'score': 10.62}, {'connected_gene': 'SRCAP', 'score': 10.45}, {'connected_gene': 'PRSS36', 'score': 10.33}, {'connected_gene': 'SNORA30', 'score': 10.29}, {'connected_gene': 'ZNF720', 'score': 9.93}, {'connected_gene': 'PIR56097', 'score': 0.77}, {'connected_gene': 'FBXL19-AS1', 'score': 0.37}, {'connected_gene': 'FBXL19', 'score': 0.37}]
chr16 GH16I030930 30930973 30931621 0.2 [{'connected_gene': 'HSD3B7', 'score': 29.98}, {'connected_gene': 'FBXL19-AS1', 'score': 0.44}, {'connected_gene': 'FBXL19', 'score': 0.44}, {'connected_gene': 'PIR56097', 'score': 0.39}]
chr16 GH16I030926 30926014 30926925 0.56 [{'connected_gene': 'HSD3B7', 'score': 29.29}, {'connected_gene': 'FBXL19-AS1', 'score': 0.77}, {'connected_gene': 'FBXL19', 'score': 0.77}, {'connected_gene': 'PIR56097', 'score': 0.37}]
chr16 GH16I030927 30927337 30928769 0.83 [{'connected_gene': 'HSD3B7', 'score': 29.97}, {'connected_gene': 'FBXL19-AS1', 'score': 0.77}, {'connected_gene': 'FBXL19', 'score': 0.77}, {'connected_gene': 'PIR56097', 'score': 0.37}]
chr16 GH16I031031 31031820 31034764 2.13 [{'connected_gene': 'STX4', 'score': 550.77}, {'connected_gene': 'ZNF785', 'score': 31.34}, {'connected_gene': 'FUS', 'score': 28.45}, {'connected_gene': 'ENSG00000260267', 'score': 26.48}, {'connected_gene': 'SMG1P5', 'score': 25.95}, {'connected_gene': 'SRCAP', 'score': 24.71}, {'connected_gene': 'SETD1A', 'score': 23.97}, {'connected_gene': 'HSD3B7', 'score': 23.96}, {'connected_gene': 'NPIPB13', 'score': 23.29}, {'connected_gene': 'ZNF747', 'score': 22.47}, {'connected_gene': 'ZNF720', 'score': 21.73}, {'connected_gene': 'C16orf58', 'score': 21.42}, {'connected_gene': 'BCL7C', 'score': 20.6}, {'connected_gene': 'ENSG00000260304', 'score': 20.4}, {'connected_gene': 'ENSG00000260625', 'score': 18.57}, {'connected_gene': 'TGFB1I1', 'score': 11.29}, {'connected_gene': 'ZNF764', 'score': 11.23}, {'connected_gene': 'ZNF629', 'score': 11.21}, {'connected_gene': 'FBXL19', 'score': 10.44}, {'connected_gene': 'MIR762HG', 'score': 10.23}, {'connected_gene': 'LOC101928762', 'score': 0.44}]
chr16 GH16I030921 30921076 30925728 2.12 [{'connected_gene': 'FBXL19-AS1', 'score': 550.77}, {'connected_gene': 'FBXL19', 'score': 550.77}, {'connected_gene': 'HSD3B7', 'score': 29.95}, {'connected_gene': 'SRCAP', 'score': 18.42}, {'connected_gene': 'SMG1P5', 'score': 17.33}, {'connected_gene': 'GDPD3', 'score': 16.49}, {'connected_gene': 'ENSG00000260267', 'score': 15.52}, {'connected_gene': 'PRR14', 'score': 14.57}, {'connected_gene': 'INO80E', 'score': 13.9}, {'connected_gene': 'ENSG00000235560', 'score': 13.86}, {'connected_gene': 'KAT8', 'score': 13.19}, {'connected_gene': 'ZNF764', 'score': 13.12}, {'connected_gene': 'SLX1A', 'score': 12.71}, {'connected_gene': 'SETD1A', 'score': 12.57}, {'connected_gene': 'NPIPB13', 'score': 12.51}, {'connected_gene': 'ENSG00000260304', 'score': 11.88}, {'connected_gene': 'C16orf58', 'score': 11.28}, {'connected_gene': 'STX4', 'score': 11.14}, {'connected_gene': 'FUS', 'score': 10.74}, {'connected_gene': 'ZNF747', 'score': 10.47}, {'connected_gene': 'ORAI3', 'score': 10.44}, {'connected_gene': 'BCL7C', 'score': 10.21}, {'connected_gene': 'PIR56097', 'score': 0.34}]
chr16 GH16I030935 30935220 30935429 0.82 [{'connected_gene': 'FBXL19-AS1', 'score': 0.39}, {'connected_gene': 'PIR56097', 'score': 0.39}, {'connected_gene': 'FBXL19', 'score': 0.39}]
chr16 GH16I031178 31178498 31183169 2.14 [{'connected_gene': 'FUS', 'score': 587.91}, {'connected_gene': 'SRCAP', 'score': 70.92}, {'connected_gene': 'SETD1A', 'score': 66.98}, {'connected_gene': 'SMG1P5', 'score': 54.83}, {'connected_gene': 'ZNF764', 'score': 51.91}, {'connected_gene': 'ENSG00000260267', 'score': 47.4}, {'connected_gene': 'PRR14', 'score': 47.37}, {'connected_gene': 'RNF40', 'score': 45.46}, {'connected_gene': 'ENSG00000260304', 'score': 37.47}, {'connected_gene': 'FBRS', 'score': 36.32}, {'connected_gene': 'ZNF646', 'score': 33.91}, {'connected_gene': 'PYCARD', 'score': 32.36}, {'connected_gene': 'C16orf58', 'score': 31.34}, {'connected_gene': 'ZNF668', 'score': 29.02}, {'connected_gene': 'ORAI3', 'score': 26.43}, {'connected_gene': 'SLX1A', 'score': 25.19}, {'connected_gene': 'ENSG00000235560', 'score': 22.43}, {'connected_gene': 'STX4', 'score': 21.82}, {'connected_gene': 'PHKG2', 'score': 21.61}, {'connected_gene': 'BCL7C', 'score': 18.88}, {'connected_gene': 'ENSG00000260625', 'score': 18.58}, {'connected_gene': 'ZNF785', 'score': 16.6}, {'connected_gene': 'PYDC1', 'score': 16.36}, {'connected_gene': 'ZNF771', 'score': 13.07}, {'connected_gene': 'PRSS36', 'score': 12.69}, {'connected_gene': 'NPIPB13', 'score': 12.51}, {'connected_gene': 'PRSS8', 'score': 12.1}, {'connected_gene': 'LOC730183', 'score': 11.26}, {'connected_gene': 'ZNF688', 'score': 11.21}, {'connected_gene': 'ZNF689', 'score': 11.14}, {'connected_gene': 'TRIM72', 'score': 11.02}, {'connected_gene': 'HSD3B7', 'score': 10.98}, {'connected_gene': 'ZNF768', 'score': 10.76}, {'connected_gene': 'FBXL19', 'score': 10.37}, {'connected_gene': 'ZNF720', 'score': 10.24}, {'connected_gene': 'MIR762HG', 'score': 10.19}, {'connected_gene': 'KAT8', 'score': 10.14}, {'connected_gene': 'ENSG00000262766', 'score': 9.99}]
chr16 GH16I030393 30393668 30396584 2.08 [{'connected_gene': 'SEPT1', 'score': 550.77}, {'connected_gene': 'ZNF48', 'score': 550.37}, {'connected_gene': 'SETD1A', 'score': 42.94}, {'connected_gene': 'FUS', 'score': 37.23}, {'connected_gene': 'INO80E', 'score': 28.7}, {'connected_gene': 'SRCAP', 'score': 27.78}, {'connected_gene': 'ZNF785', 'score': 25.08}, {'connected_gene': 'ZNF764', 'score': 24.7}, {'connected_gene': 'ZNF689', 'score': 20.95}, {'connected_gene': 'SMG1P5', 'score': 20.8}, {'connected_gene': 'ZNF629', 'score': 19.71}, {'connected_gene': 'BCL7C', 'score': 19.17}, {'connected_gene': 'FBRS', 'score': 17.73}, {'connected_gene': 'RNF40', 'score': 16.39}, {'connected_gene': 'NPIPB12', 'score': 16.28}, {'connected_gene': 'ZNF646', 'score': 14.68}, {'connected_gene': 'SMG1P2', 'score': 13.42}, {'connected_gene': 'ENSG00000260114', 'score': 13.12}, {'connected_gene': 'TBC1D10B', 'score': 11.98}, {'connected_gene': 'ENSG00000260304', 'score': 11.98}, {'connected_gene': 'SNORA80C', 'score': 11.93}, {'connected_gene': 'DCTPP1', 'score': 11.84}, {'connected_gene': 'CD2BP2', 'score': 11.67}, {'connected_gene': 'MYLPF', 'score': 11.6}, {'connected_gene': 'PRR14', 'score': 11.56}, {'connected_gene': 'ZNF668', 'score': 11.16}, {'connected_gene': 'ENSG00000262766', 'score': 11.01}, {'connected_gene': 'CDIPT', 'score': 10.9}, {'connected_gene': 'ZNF768', 'score': 10.85}, {'connected_gene': 'SEPHS2', 'score': 10.82}, {'connected_gene': 'ZNF688', 'score': 10.73}, {'connected_gene': 'SLX1A', 'score': 10.64}, {'connected_gene': 'TAOK2', 'score': 9.88}, {'connected_gene': 'ENSG00000238045', 'score': 9.84}, {'connected_gene': 'PPP4C', 'score': 9.71}, {'connected_gene': 'YPEL3', 'score': 7.4}, {'connected_gene': 'FBXL19', 'score': 5.98}, {'connected_gene': 'GC16P030388', 'score': 0.44}]
chr16 GH16I030697 30697245 30701024 2.14 [{'connected_gene': 'SRCAP', 'score': 597.17}, {'connected_gene': 'LOC730183', 'score': 550.77}, {'connected_gene': 'ZNF785', 'score': 70.39}, {'connected_gene': 'FUS', 'score': 47.68}, {'connected_gene': 'SETD1A', 'score': 43.34}, {'connected_gene': 'TAOK2', 'score': 40.04}, {'connected_gene': 'ENSG00000260267', 'score': 38.25}, {'connected_gene': 'ENSG00000260114', 'score': 32.81}, {'connected_gene': 'BCL7C', 'score': 32.62}, {'connected_gene': 'SMG1P5', 'score': 31.33}, {'connected_gene': 'MIR762HG', 'score': 29.58}, {'connected_gene': 'ZNF747', 'score': 28.78}, {'connected_gene': 'NPIPB13', 'score': 28.18}, {'connected_gene': 'ENSG00000260625', 'score': 27.5}, {'connected_gene': 'ENSG00000260304', 'score': 23.62}, {'connected_gene': 'C16orf58', 'score': 21.43}, {'connected_gene': 'TGFB1I1', 'score': 20.8}, {'connected_gene': 'ZNF629', 'score': 19.83}, {'connected_gene': 'PRR14', 'score': 17.6}, {'connected_gene': 'INO80E', 'score': 16.81}, {'connected_gene': 'SLX1A', 'score': 14.13}, {'connected_gene': 'ZNF764', 'score': 13.94}, {'connected_gene': 'FBRS', 'score': 13.36}, {'connected_gene': 'ENSG00000247735', 'score': 12.79}, {'connected_gene': 'RNF40', 'score': 12.34}, {'connected_gene': 'PYCARD', 'score': 11.59}, {'connected_gene': 'CD2BP2', 'score': 11.55}, {'connected_gene': 'STX4', 'score': 11.31}, {'connected_gene': 'KAT8', 'score': 11.26}, {'connected_gene': 'GDPD3', 'score': 11.14}, {'connected_gene': 'ENSG00000235560', 'score': 11.01}, {'connected_gene': 'ENSG00000262766', 'score': 10.39}, {'connected_gene': 'ORAI3', 'score': 10.38}, {'connected_gene': 'FBXL19', 'score': 10.37}, {'connected_gene': 'ARMC5', 'score': 9.92}, {'connected_gene': 'C16orf54', 'score': 9.74}, {'connected_gene': 'HIRIP3', 'score': 9.7}, {'connected_gene': 'RNU6-1043P', 'score': 0.77}]
chr16 GH16I030693 30693433 30694669 1.01 [{'connected_gene': 'ENSG00000247735', 'score': 12.78}, {'connected_gene': 'ENSG00000260114', 'score': 11.71}, {'connected_gene': 'FBXL19', 'score': 10.37}, {'connected_gene': 'MIR762HG', 'score': 10.22}, {'connected_gene': 'ZNF629', 'score': 10.0}, {'connected_gene': 'HIRIP3', 'score': 9.7}, {'connected_gene': 'ENSG00000260625', 'score': 9.66}, {'connected_gene': 'ENSG00000260911', 'score': 6.5}, {'connected_gene': 'SRCAP', 'score': 0.77}, {'connected_gene': 'RNU6-416P', 'score': 0.37}]
chr16 GH16I030916 30916500 30916524 0.39 [{'connected_gene': 'PIR60794', 'score': 550.77}, {'connected_gene': 'FBXL19', 'score': 0.44}]

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