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
ENST00000279804 [[30907927, 30907989], [30910735, 30910854], [30913398, 30914881]] [[30907964, 30907989], [30910735, 30910854], [30913398, 30913860]]
ENST00000395019 [[30907958, 30907989], [30910738, 30910854], [30913398, 30914868]] [[30907964, 30907989], [30910738, 30910854], [30913398, 30913860]]
NM_001142544 [[30907927, 30907989], [30910738, 30910854], [30913398, 30914881]] [[30907964, 30907989], [30910738, 30910854], [30913398, 30913860]]
NM_001330 [[30907927, 30907989], [30910735, 30910854], [30913398, 30914881]] [[30907964, 30907989], [30910735, 30910854], [30913398, 30913860]]
Promoter
Chrom Start End Description
chr16 30907927 30907963 CAGE_peak_1_at_CTF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I030892 30892621 30897749 2.31 [{'connected_gene': 'BCL7C', 'score': 582.05}, {'connected_gene': 'MIR762', 'score': 550.77}, {'connected_gene': 'CTF1', 'score': 550.77}, {'connected_gene': 'ENSG00000262721', 'score': 550.77}, {'connected_gene': 'ENSG00000260267', 'score': 36.06}, {'connected_gene': 'SRCAP', 'score': 34.98}, {'connected_gene': 'INO80E', 'score': 31.19}, {'connected_gene': 'SETD1A', 'score': 29.78}, {'connected_gene': 'FUS', 'score': 29.76}, {'connected_gene': 'SMG1P5', 'score': 28.64}, {'connected_gene': 'ZNF747', 'score': 28.39}, {'connected_gene': 'ZNF764', 'score': 25.66}, {'connected_gene': 'PRR14', 'score': 24.28}, {'connected_gene': 'ENSG00000260304', 'score': 22.09}, {'connected_gene': 'SLX1A', 'score': 21.53}, {'connected_gene': 'FBRS', 'score': 17.73}, {'connected_gene': 'GDPD3', 'score': 16.74}, {'connected_gene': 'RNF40', 'score': 16.45}, {'connected_gene': 'ZNF785', 'score': 16.35}, {'connected_gene': 'ZNF646', 'score': 14.75}, {'connected_gene': 'ZNF720', 'score': 14.02}, {'connected_gene': 'ENSG00000235560', 'score': 13.86}, {'connected_gene': 'MIR762HG', 'score': 13.1}, {'connected_gene': 'NPIPB13', 'score': 12.52}, {'connected_gene': 'ENSG00000260114', 'score': 11.6}, {'connected_gene': 'ZNF689', 'score': 11.55}, {'connected_gene': 'TAOK2', 'score': 11.47}, {'connected_gene': 'C16orf58', 'score': 11.28}, {'connected_gene': 'TGFB1I1', 'score': 11.28}, {'connected_gene': 'STX4', 'score': 11.12}, {'connected_gene': 'ENSG00000262766', 'score': 11.06}, {'connected_gene': 'ENSG00000260625', 'score': 10.72}, {'connected_gene': 'ZNF688', 'score': 10.69}, {'connected_gene': 'ZNF629', 'score': 10.57}, {'connected_gene': 'ORAI3', 'score': 10.36}, {'connected_gene': 'PPP4C', 'score': 9.68}, {'connected_gene': 'ENSG00000260911', 'score': 6.92}, {'connected_gene': 'ENSG00000260487', 'score': 4.4}]
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 GH16I030901 30901201 30905272 1.15 [{'connected_gene': 'HSD3B7', 'score': 28.36}, {'connected_gene': 'ENSG00000260911', 'score': 16.04}, {'connected_gene': 'SMG1P5', 'score': 15.57}, {'connected_gene': 'ENSG00000260267', 'score': 14.91}, {'connected_gene': 'VKORC1', 'score': 12.88}, {'connected_gene': 'SRCAP', 'score': 12.25}, {'connected_gene': 'ZNF629', 'score': 11.56}, {'connected_gene': 'BCL7C', 'score': 11.29}, {'connected_gene': 'TGFB1I1', 'score': 11.27}, {'connected_gene': 'KAT8', 'score': 10.99}, {'connected_gene': 'ZNF747', 'score': 10.99}, {'connected_gene': 'ENSG00000260304', 'score': 10.8}, {'connected_gene': 'NPIPB13', 'score': 10.27}, {'connected_gene': 'SETD1A', 'score': 10.0}, {'connected_gene': 'C16orf58', 'score': 9.72}, {'connected_gene': 'GDPD3', 'score': 4.51}, {'connected_gene': 'CTF2P', 'score': 0.44}, {'connected_gene': 'CTF1', 'score': 0.44}]
chr16 GH16I030808 30808001 30809529 1.04 [{'connected_gene': 'ZNF629', 'score': 13.49}, {'connected_gene': 'RNF40', 'score': 12.21}, {'connected_gene': 'CCDC189', 'score': 12.21}, {'connected_gene': 'MIR762', 'score': 11.74}, {'connected_gene': 'BCL7C', 'score': 11.74}, {'connected_gene': 'CTF1', 'score': 11.74}, {'connected_gene': 'SRCAP', 'score': 10.88}, {'connected_gene': 'SNORA30', 'score': 10.81}, {'connected_gene': 'ENSG00000274848', 'score': 0.44}]
chr16 GH16I030805 30805001 30807631 1.31 [{'connected_gene': 'SRCAP', 'score': 53.97}, {'connected_gene': 'INO80E', 'score': 52.78}, {'connected_gene': 'RNF40', 'score': 52.65}, {'connected_gene': 'SETD1A', 'score': 47.8}, {'connected_gene': 'SMG1P5', 'score': 38.93}, {'connected_gene': 'FBRS', 'score': 38.67}, {'connected_gene': 'FUS', 'score': 36.8}, {'connected_gene': 'ENSG00000260267', 'score': 36.03}, {'connected_gene': 'ZNF764', 'score': 34.0}, {'connected_gene': 'PRR14', 'score': 33.28}, {'connected_gene': 'ZNF720', 'score': 32.06}, {'connected_gene': 'C16orf58', 'score': 31.36}, {'connected_gene': 'STX4', 'score': 30.27}, {'connected_gene': 'BCL7C', 'score': 29.85}, {'connected_gene': 'ZNF646', 'score': 27.94}, {'connected_gene': 'ENSG00000260304', 'score': 22.08}, {'connected_gene': 'SLX1A', 'score': 21.53}, {'connected_gene': 'ZNF785', 'score': 20.6}, {'connected_gene': 'ZNF688', 'score': 20.17}, {'connected_gene': 'ZNF668', 'score': 19.62}, {'connected_gene': 'ZNF747', 'score': 19.53}, {'connected_gene': 'HSD3B7', 'score': 14.19}, {'connected_gene': 'ENSG00000235560', 'score': 13.87}, {'connected_gene': 'PHKG2', 'score': 12.61}, {'connected_gene': 'NPIPB13', 'score': 12.52}, {'connected_gene': 'CCDC189', 'score': 12.23}, {'connected_gene': 'ZNF689', 'score': 11.58}, {'connected_gene': 'MIR762', 'score': 11.42}, {'connected_gene': 'CTF1', 'score': 11.42}, {'connected_gene': 'ENSG00000262766', 'score': 11.04}, {'connected_gene': 'SNORA30', 'score': 10.81}, {'connected_gene': 'ZNF629', 'score': 10.58}, {'connected_gene': 'GDPD3', 'score': 10.24}, {'connected_gene': 'ORAI3', 'score': 10.24}, {'connected_gene': 'ENSG00000238045', 'score': 9.83}, {'connected_gene': 'PPP4C', 'score': 9.68}, {'connected_gene': 'ENSG00000274848', 'score': 0.44}]
chr16 GH16I030767 30767259 30768491 0.46 [{'connected_gene': 'RNU6-1043P', 'score': 11.63}, {'connected_gene': 'SRCAP', 'score': 11.63}, {'connected_gene': 'SNORA30', 'score': 11.45}, {'connected_gene': 'MIR762', 'score': 10.9}, {'connected_gene': 'BCL7C', 'score': 10.9}, {'connected_gene': 'CTF1', 'score': 10.9}, {'connected_gene': 'ENSG00000260911', 'score': 6.63}, {'connected_gene': 'PIR45630', 'score': 0.77}, {'connected_gene': 'RNF40', 'score': 0.44}, {'connected_gene': 'ENSG00000280211', 'score': 0.44}]
chr16 GH16I030872 30872255 30877514 1.93 [{'connected_gene': 'MIR762HG', 'score': 563.42}, {'connected_gene': 'MIR4519', 'score': 550.77}, {'connected_gene': 'RNF40', 'score': 57.05}, {'connected_gene': 'INO80E', 'score': 50.99}, {'connected_gene': 'ENSG00000260267', 'score': 49.69}, {'connected_gene': 'SETD1A', 'score': 48.11}, {'connected_gene': 'FUS', 'score': 47.36}, {'connected_gene': 'BCL7C', 'score': 46.14}, {'connected_gene': 'FBRS', 'score': 39.32}, {'connected_gene': 'SRCAP', 'score': 37.51}, {'connected_gene': 'SMG1P5', 'score': 35.94}, {'connected_gene': 'PRR14', 'score': 33.52}, {'connected_gene': 'ZNF720', 'score': 29.0}, {'connected_gene': 'ZNF764', 'score': 25.74}, {'connected_gene': 'ENSG00000260304', 'score': 23.72}, {'connected_gene': 'SLX1A', 'score': 23.1}, {'connected_gene': 'ZNF646', 'score': 22.96}, {'connected_gene': 'CCDC189', 'score': 22.85}, {'connected_gene': 'ZNF629', 'score': 22.67}, {'connected_gene': 'ENSG00000260625', 'score': 22.4}, {'connected_gene': 'ZNF747', 'score': 21.9}, {'connected_gene': 'C16orf58', 'score': 21.57}, {'connected_gene': 'PPP4C', 'score': 20.21}, {'connected_gene': 'ENSG00000262766', 'score': 19.14}, {'connected_gene': 'HSD3B7', 'score': 19.05}, {'connected_gene': 'KAT8', 'score': 17.87}, {'connected_gene': 'ZNF785', 'score': 16.64}, {'connected_gene': 'ZNF771', 'score': 13.08}, {'connected_gene': 'STX4', 'score': 12.55}, {'connected_gene': 'CTF1', 'score': 12.3}, {'connected_gene': 'GDPD3', 'score': 11.59}, {'connected_gene': 'ZNF689', 'score': 11.51}, {'connected_gene': 'TGFB1I1', 'score': 11.28}, {'connected_gene': 'ENSG00000260114', 'score': 11.04}, {'connected_gene': 'LOC730183', 'score': 10.92}, {'connected_gene': 'ZNF688', 'score': 10.69}, {'connected_gene': 'TAOK2', 'score': 10.26}, {'connected_gene': 'ORAI3', 'score': 10.17}, {'connected_gene': 'NPIPB13', 'score': 10.1}, {'connected_gene': 'ENSG00000260911', 'score': 6.62}, {'connected_gene': 'PRSS53', 'score': 4.18}, {'connected_gene': 'PHKG2', 'score': 1.63}, {'connected_gene': 'ZNF668', 'score': 1.33}, {'connected_gene': 'ENSG00000262721', 'score': 0.34}, {'connected_gene': 'LOC647086', 'score': 0.23}]
chr16 GH16I030865 30865170 30865285 0.28 [{'connected_gene': 'MIR762', 'score': 12.31}, {'connected_gene': 'BCL7C', 'score': 12.31}, {'connected_gene': 'CTF1', 'score': 12.3}, {'connected_gene': 'ZNF629', 'score': 11.69}, {'connected_gene': 'SRCAP', 'score': 10.7}, {'connected_gene': 'SNORA30', 'score': 10.5}, {'connected_gene': 'MIR762HG', 'score': 0.44}, {'connected_gene': 'LOC647086', 'score': 0.26}]
chr16 GH16I030813 30813133 30815250 1.57 [{'connected_gene': 'ENSG00000274848', 'score': 550.77}, {'connected_gene': 'HSD3B7', 'score': 15.14}, {'connected_gene': 'ZNF629', 'score': 13.46}, {'connected_gene': 'MIR762', 'score': 11.75}, {'connected_gene': 'BCL7C', 'score': 11.75}, {'connected_gene': 'CTF1', 'score': 11.75}]
chr16 GH16I030758 30758471 30759778 0.43 [{'connected_gene': 'GC16P030758', 'score': 550.77}, {'connected_gene': 'ZNF629', 'score': 12.14}, {'connected_gene': 'SNORA30', 'score': 11.83}, {'connected_gene': 'SRCAP', 'score': 11.79}, {'connected_gene': 'RNU6-1043P', 'score': 11.44}, {'connected_gene': 'BCL7C', 'score': 10.47}, {'connected_gene': 'CTF1', 'score': 10.47}, {'connected_gene': 'MIR762', 'score': 10.47}, {'connected_gene': 'STX1B', 'score': 7.56}, {'connected_gene': 'ENSG00000260911', 'score': 6.63}, {'connected_gene': 'RNF40', 'score': 0.77}, {'connected_gene': 'CCDC189', 'score': 0.77}, {'connected_gene': 'PHKG2', 'score': 0.39}]
chr16 GH16I030669 30669329 30670649 0.59 [{'connected_gene': 'PIR35911', 'score': 550.77}, {'connected_gene': 'SRCAP', 'score': 12.22}, {'connected_gene': 'RNU6-1043P', 'score': 12.2}, {'connected_gene': 'SNORA30', 'score': 11.07}, {'connected_gene': 'DCTPP1', 'score': 10.6}, {'connected_gene': 'CTF1', 'score': 10.07}, {'connected_gene': 'MIR762', 'score': 10.07}, {'connected_gene': 'BCL7C', 'score': 10.07}, {'connected_gene': 'RNU6-416P', 'score': 0.44}, {'connected_gene': 'FBRS', 'score': 0.39}]

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