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
ENST00000319285 [[30434939, 30435854], [30440377, 30440488], [30441200, 30441396]] [[30435553, 30435854], [30440377, 30440488], [30441200, 30441301]]
ENST00000567983 [[30435018, 30435744], [30441276, 30441351]] [[30435553, 30435744], [30441276, 30441301]]
ENST00000568434 [[30435234, 30435854], [30440377, 30440610]] [[30435553, 30435703]]
ENST00000568973 [[30435299, 30435854], [30440377, 30440488], [30440909, 30441121]] [[30435553, 30435703]]
ENST00000565758 [[30435354, 30435854], [30440377, 30440488], [30441175, 30441313]] [[30435553, 30435703]]
NR_134471 [[30435018, 30435854], [30440377, 30440488], [30440909, 30441121]] None
NR_134470 [[30435018, 30435854], [30440377, 30440488], [30441175, 30441373]] None
NM_024096 [[30435018, 30435854], [30440377, 30440488], [30441200, 30441373]] [[30435553, 30435854], [30440377, 30440488], [30441200, 30441301]]
Promoter
Chrom Start End Description
chr16 30441293 30441370 CAGE_peak_1_at_DCTPP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I030538 30538731 30544072 1.37 [{'connected_gene': 'ZNF764', 'score': 32.06}, {'connected_gene': 'ZNF785', 'score': 29.15}, {'connected_gene': 'INO80E', 'score': 18.19}, {'connected_gene': 'ENSG00000235560', 'score': 16.96}, {'connected_gene': 'SRCAP', 'score': 16.18}, {'connected_gene': 'SMG1P2', 'score': 15.52}, {'connected_gene': 'ENSG00000260267', 'score': 15.37}, {'connected_gene': 'SMG1P5', 'score': 14.75}, {'connected_gene': 'ENSG00000260304', 'score': 14.46}, {'connected_gene': 'ENSG00000260114', 'score': 13.11}, {'connected_gene': 'ZNF688', 'score': 12.59}, {'connected_gene': 'ENSG00000239791', 'score': 12.59}, {'connected_gene': 'BCL7C', 'score': 12.3}, {'connected_gene': 'SEPHS2', 'score': 11.66}, {'connected_gene': 'DCTPP1', 'score': 11.64}, {'connected_gene': 'FBRS', 'score': 11.58}, {'connected_gene': 'MVP', 'score': 11.57}, {'connected_gene': 'ENSG00000222701', 'score': 11.42}, {'connected_gene': 'ITGAL', 'score': 11.42}, {'connected_gene': 'RNF40', 'score': 11.03}, {'connected_gene': 'PRR14', 'score': 10.98}, {'connected_gene': 'ZNF689', 'score': 10.98}, {'connected_gene': 'FUS', 'score': 10.83}, {'connected_gene': 'SETD1A', 'score': 10.36}, {'connected_gene': 'STX4', 'score': 10.25}, {'connected_gene': 'SLX1A', 'score': 10.24}, {'connected_gene': 'ORAI3', 'score': 10.08}, {'connected_gene': 'TAOK2', 'score': 9.86}, {'connected_gene': 'CD2BP2', 'score': 9.58}, {'connected_gene': 'CCDC189', 'score': 7.13}, {'connected_gene': 'VKORC1', 'score': 4.98}, {'connected_gene': 'LOC100127965', 'score': 0.77}, {'connected_gene': 'PIR49345', 'score': 0.39}, {'connected_gene': 'ENSG00000260869', 'score': 0.37}]
chr16 GH16I030428 30428703 30431099 2.11 [{'connected_gene': 'DCTPP1', 'score': 550.77}, {'connected_gene': 'SETD1A', 'score': 27.29}, {'connected_gene': 'ZNF689', 'score': 19.0}, {'connected_gene': 'FUS', 'score': 18.75}, {'connected_gene': 'ZNF646', 'score': 17.43}, {'connected_gene': 'FBRS', 'score': 13.93}, {'connected_gene': 'INO80E', 'score': 12.67}, {'connected_gene': 'ZNF688', 'score': 12.12}, {'connected_gene': 'ENSG00000260304', 'score': 11.93}, {'connected_gene': 'ZNF764', 'score': 11.32}, {'connected_gene': 'ZNF668', 'score': 11.16}, {'connected_gene': 'SRCAP', 'score': 11.13}, {'connected_gene': 'ZNF785', 'score': 10.29}, {'connected_gene': 'ZNF629', 'score': 10.27}, {'connected_gene': 'STX4', 'score': 10.27}, {'connected_gene': 'RNF40', 'score': 10.19}, {'connected_gene': 'ENSG00000238045', 'score': 9.79}, {'connected_gene': 'ENSG00000262766', 'score': 9.7}, {'connected_gene': 'CDIPT-AS1', 'score': 4.57}, {'connected_gene': 'GC16M030421', 'score': 0.39}, {'connected_gene': 'SNORA80C', 'score': 0.39}, {'connected_gene': 'ZNF771', 'score': 0.34}]
chr16 GH16I030546 30546201 30546800 0.31 [{'connected_gene': 'DCTPP1', 'score': 11.79}, {'connected_gene': 'ITGAL', 'score': 11.56}, {'connected_gene': 'ENSG00000222701', 'score': 11.56}, {'connected_gene': 'SEPHS2', 'score': 11.39}, {'connected_gene': 'ZNF689', 'score': 11.3}, {'connected_gene': 'TBC1D10B', 'score': 10.11}, {'connected_gene': 'LOC730183', 'score': 3.84}, {'connected_gene': 'LOC100127965', 'score': 0.44}, {'connected_gene': 'PIR49345', 'score': 0.44}, {'connected_gene': 'ENSG00000260869', 'score': 0.39}]
chr16 GH16I030426 30426040 30426189 0.49 [{'connected_gene': 'DCTPP1', 'score': 0.77}, {'connected_gene': 'GC16M030421', 'score': 0.44}, {'connected_gene': 'SNORA80C', 'score': 0.44}, {'connected_gene': 'ZNF771', 'score': 0.37}]
chr16 GH16I030649 30649446 30653053 2.3 [{'connected_gene': 'PRR14', 'score': 565.28}, {'connected_gene': 'SETD1A', 'score': 50.56}, {'connected_gene': 'ENSG00000260267', 'score': 41.24}, {'connected_gene': 'SRCAP', 'score': 41.24}, {'connected_gene': 'SMG1P5', 'score': 40.84}, {'connected_gene': 'ENSG00000260304', 'score': 33.28}, {'connected_gene': 'BCL7C', 'score': 29.77}, {'connected_gene': 'ZNF747', 'score': 29.29}, {'connected_gene': 'FUS', 'score': 28.74}, {'connected_gene': 'INO80E', 'score': 22.45}, {'connected_gene': 'ZNF764', 'score': 22.09}, {'connected_gene': 'NPIPB13', 'score': 21.93}, {'connected_gene': 'ENSG00000235560', 'score': 13.93}, {'connected_gene': 'ENSG00000260625', 'score': 13.58}, {'connected_gene': 'SLX1A', 'score': 12.73}, {'connected_gene': 'MIR762HG', 'score': 12.73}, {'connected_gene': 'ZNF689', 'score': 11.85}, {'connected_gene': 'DCTPP1', 'score': 11.45}, {'connected_gene': 'C16orf58', 'score': 11.28}, {'connected_gene': 'ZNF668', 'score': 11.18}, {'connected_gene': 'LOC730183', 'score': 11.07}, {'connected_gene': 'STX4', 'score': 11.05}, {'connected_gene': 'ENSG00000260114', 'score': 11.05}, {'connected_gene': 'TAOK2', 'score': 10.27}, {'connected_gene': 'GDPD3', 'score': 10.24}, {'connected_gene': 'ORAI3', 'score': 10.19}, {'connected_gene': 'ZNF768', 'score': 10.04}, {'connected_gene': 'TGFB1I1', 'score': 9.65}, {'connected_gene': 'FBRS', 'score': 0.44}]
chr16 GH16I030633 30633401 30636000 1.62 [{'connected_gene': 'FBRS', 'score': 35.19}, {'connected_gene': 'SRCAP', 'score': 32.02}, {'connected_gene': 'ZNF688', 'score': 29.8}, {'connected_gene': 'ZNF764', 'score': 26.5}, {'connected_gene': 'ZNF689', 'score': 23.54}, {'connected_gene': 'SETD1A', 'score': 22.61}, {'connected_gene': 'ZNF785', 'score': 22.4}, {'connected_gene': 'ZNF646', 'score': 19.78}, {'connected_gene': 'ZNF629', 'score': 19.76}, {'connected_gene': 'CCDC189', 'score': 18.18}, {'connected_gene': 'PRR14', 'score': 16.62}, {'connected_gene': 'LOC730183', 'score': 16.17}, {'connected_gene': 'MIR762HG', 'score': 16.15}, {'connected_gene': 'PHKG2', 'score': 16.13}, {'connected_gene': 'INO80E', 'score': 15.53}, {'connected_gene': 'RNF40', 'score': 15.48}, {'connected_gene': 'SLX1A', 'score': 14.33}, {'connected_gene': 'SMG1P5', 'score': 14.32}, {'connected_gene': 'ENSG00000260304', 'score': 13.51}, {'connected_gene': 'PPP4C', 'score': 12.27}, {'connected_gene': 'ENSG00000260267', 'score': 12.25}, {'connected_gene': 'ENSG00000239791', 'score': 12.17}, {'connected_gene': 'GDPD3', 'score': 11.59}, {'connected_gene': 'DCTPP1', 'score': 11.49}, {'connected_gene': 'RNU6-1043P', 'score': 11.13}, {'connected_gene': 'MVP', 'score': 10.17}, {'connected_gene': 'ORAI3', 'score': 10.03}, {'connected_gene': 'ENSG00000262766', 'score': 9.82}, {'connected_gene': 'ZNF48', 'score': 3.78}, {'connected_gene': 'KAT8', 'score': 3.65}, {'connected_gene': 'ZNF747', 'score': 3.3}, {'connected_gene': 'ITGAL', 'score': 1.86}, {'connected_gene': 'CORO1A', 'score': 1.09}, {'connected_gene': 'PIR47019', 'score': 0.44}, {'connected_gene': 'GC16M030651', 'score': 0.44}]
chr16 GH16I030598 30598001 30598601 1.26 [{'connected_gene': 'INO80E', 'score': 53.52}, {'connected_gene': 'SRCAP', 'score': 48.69}, {'connected_gene': 'FBRS', 'score': 46.42}, {'connected_gene': 'ZNF764', 'score': 45.57}, {'connected_gene': 'ENSG00000260267', 'score': 41.23}, {'connected_gene': 'SETD1A', 'score': 40.94}, {'connected_gene': 'PRR14', 'score': 37.23}, {'connected_gene': 'RNF40', 'score': 35.18}, {'connected_gene': 'SMG1P5', 'score': 30.48}, {'connected_gene': 'ENSG00000235560', 'score': 27.98}, {'connected_gene': 'ENSG00000260304', 'score': 27.24}, {'connected_gene': 'NPIPB13', 'score': 24.65}, {'connected_gene': 'SLX1A', 'score': 22.59}, {'connected_gene': 'BCL7C', 'score': 21.12}, {'connected_gene': 'STX4', 'score': 19.8}, {'connected_gene': 'ORAI3', 'score': 18.71}, {'connected_gene': 'ZNF646', 'score': 15.11}, {'connected_gene': 'C16orf58', 'score': 14.39}, {'connected_gene': 'PHKG2', 'score': 12.5}, {'connected_gene': 'ENSG00000239791', 'score': 12.49}, {'connected_gene': 'ENSG00000261474', 'score': 12.14}, {'connected_gene': 'DCTPP1', 'score': 11.84}, {'connected_gene': 'MVP', 'score': 11.57}, {'connected_gene': 'SEPHS2', 'score': 11.54}, {'connected_gene': 'ZNF688', 'score': 11.49}, {'connected_gene': 'GDPD3', 'score': 11.15}, {'connected_gene': 'ARMC5', 'score': 10.99}, {'connected_gene': 'KIF22', 'score': 10.97}, {'connected_gene': 'ZNF747', 'score': 10.8}, {'connected_gene': 'ENSG00000262766', 'score': 10.38}, {'connected_gene': 'ZNF668', 'score': 10.17}, {'connected_gene': 'FUS', 'score': 9.97}, {'connected_gene': 'PIR58155', 'score': 0.44}, {'connected_gene': 'ENSG00000261588', 'score': 0.39}, {'connected_gene': 'ENSG00000260167', 'score': 0.39}]
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 GH16I030550 30550959 30553831 1.02 [{'connected_gene': 'ZNF688', 'score': 11.98}, {'connected_gene': 'ZNF785', 'score': 11.94}, {'connected_gene': 'DCTPP1', 'score': 11.18}, {'connected_gene': 'ZNF689', 'score': 10.9}, {'connected_gene': 'SEPHS2', 'score': 10.87}, {'connected_gene': 'ITGAL', 'score': 10.46}, {'connected_gene': 'ENSG00000222701', 'score': 10.45}, {'connected_gene': 'CD2BP2', 'score': 9.85}, {'connected_gene': 'ENSG00000235560', 'score': 5.55}, {'connected_gene': 'PIR49345', 'score': 0.77}, {'connected_gene': 'ZNF764', 'score': 0.44}, {'connected_gene': 'ENSG00000260869', 'score': 0.44}, {'connected_gene': 'LOC100127965', 'score': 0.39}]
chr16 GH16I030547 30547776 30550169 1.32 [{'connected_gene': 'ZNF689', 'score': 22.41}, {'connected_gene': 'ZNF764', 'score': 20.53}, {'connected_gene': 'SETD1A', 'score': 15.84}, {'connected_gene': 'ZNF688', 'score': 11.98}, {'connected_gene': 'ENSG00000239791', 'score': 11.98}, {'connected_gene': 'ZNF785', 'score': 11.92}, {'connected_gene': 'DCTPP1', 'score': 11.79}, {'connected_gene': 'ENSG00000222701', 'score': 11.55}, {'connected_gene': 'ITGAL', 'score': 11.55}, {'connected_gene': 'SEPHS2', 'score': 11.39}, {'connected_gene': 'INO80E', 'score': 11.35}, {'connected_gene': 'SRCAP', 'score': 11.18}, {'connected_gene': 'ZNF768', 'score': 11.07}, {'connected_gene': 'CDIPT', 'score': 10.9}, {'connected_gene': 'BCL7C', 'score': 10.66}, {'connected_gene': 'TBC1D10B', 'score': 10.58}, {'connected_gene': 'FUS', 'score': 10.22}, {'connected_gene': 'CD2BP2', 'score': 9.86}, {'connected_gene': 'PIR49345', 'score': 0.44}, {'connected_gene': 'ENSG00000260869', 'score': 0.44}, {'connected_gene': 'LOC100127965', 'score': 0.39}]
chr16 GH16I030491 30491609 30492367 0.95 [{'connected_gene': 'MIR762HG', 'score': 12.7}, {'connected_gene': 'SEPHS2', 'score': 12.31}, {'connected_gene': 'ZNF688', 'score': 12.22}, {'connected_gene': 'ENSG00000239791', 'score': 12.22}, {'connected_gene': 'ZNF785', 'score': 12.2}, {'connected_gene': 'DCTPP1', 'score': 11.95}, {'connected_gene': 'ZNF689', 'score': 11.25}, {'connected_gene': 'SNORA80C', 'score': 11.17}, {'connected_gene': 'ENSG00000260114', 'score': 11.05}, {'connected_gene': 'LOC730183', 'score': 10.9}, {'connected_gene': 'TBC1D10B', 'score': 10.5}, {'connected_gene': 'TAOK2', 'score': 10.27}, {'connected_gene': 'SRCAP', 'score': 10.19}, {'connected_gene': 'RNU6-1043P', 'score': 10.19}, {'connected_gene': 'SNORA30', 'score': 9.46}, {'connected_gene': 'DOC2A', 'score': 4.88}, {'connected_gene': 'ENSG00000261346', 'score': 0.77}, {'connected_gene': 'ENSG00000261332', 'score': 0.44}, {'connected_gene': 'ITGAL', 'score': 0.37}]
chr16 GH16I030437 30437540 30437669 0.78 [{'connected_gene': 'GC16M030436', 'score': 550.77}, {'connected_gene': 'DCTPP1', 'score': 0.44}]
chr16 GH16I030615 30615400 30615800 1.1 [{'connected_gene': 'ENSG00000260678', 'score': 550.77}, {'connected_gene': 'INO80E', 'score': 18.18}, {'connected_gene': 'SRCAP', 'score': 16.26}, {'connected_gene': 'ENSG00000260267', 'score': 15.37}, {'connected_gene': 'SMG1P5', 'score': 14.73}, {'connected_gene': 'ENSG00000260304', 'score': 14.46}, {'connected_gene': 'ZNF764', 'score': 12.97}, {'connected_gene': 'ENSG00000239791', 'score': 12.64}, {'connected_gene': 'ZNF785', 'score': 12.44}, {'connected_gene': 'ZNF688', 'score': 12.39}, {'connected_gene': 'BCL7C', 'score': 12.31}, {'connected_gene': 'FBRS', 'score': 11.72}, {'connected_gene': 'DCTPP1', 'score': 11.63}, {'connected_gene': 'MVP', 'score': 11.58}, {'connected_gene': 'PRR14', 'score': 11.12}, {'connected_gene': 'RNF40', 'score': 11.07}, {'connected_gene': 'ENSG00000235560', 'score': 10.78}, {'connected_gene': 'SETD1A', 'score': 10.36}, {'connected_gene': 'STX4', 'score': 10.26}, {'connected_gene': 'SLX1A', 'score': 10.24}, {'connected_gene': 'ORAI3', 'score': 10.09}, {'connected_gene': 'GC16P030610', 'score': 0.44}, {'connected_gene': 'ZNF689', 'score': 0.44}, {'connected_gene': 'PIR33909', 'score': 0.44}]
chr16 GH16I030490 30490400 30490489 0.31 [{'connected_gene': 'ENSG00000261346', 'score': 550.77}, {'connected_gene': 'SEPHS2', 'score': 12.33}, {'connected_gene': 'ENSG00000239791', 'score': 12.22}, {'connected_gene': 'ZNF688', 'score': 12.22}, {'connected_gene': 'ZNF785', 'score': 12.19}, {'connected_gene': 'DCTPP1', 'score': 11.95}, {'connected_gene': 'ZNF689', 'score': 11.25}, {'connected_gene': 'SNORA80C', 'score': 11.17}, {'connected_gene': 'TBC1D10B', 'score': 10.5}, {'connected_gene': 'SRCAP', 'score': 10.19}, {'connected_gene': 'RNU6-1043P', 'score': 10.18}, {'connected_gene': 'SNORA30', 'score': 9.45}, {'connected_gene': 'ENSG00000261332', 'score': 0.44}, {'connected_gene': 'ITGAL', 'score': 0.37}]
chr16 GH16I030488 30488800 30488949 0.86 [{'connected_gene': 'ENSG00000261346', 'score': 550.77}, {'connected_gene': 'SEPHS2', 'score': 12.33}, {'connected_gene': 'ENSG00000239791', 'score': 12.22}, {'connected_gene': 'ZNF688', 'score': 12.22}, {'connected_gene': 'ZNF785', 'score': 12.19}, {'connected_gene': 'DCTPP1', 'score': 11.96}, {'connected_gene': 'ZNF689', 'score': 11.25}, {'connected_gene': 'SNORA80C', 'score': 11.18}, {'connected_gene': 'TBC1D10B', 'score': 10.5}, {'connected_gene': 'SRCAP', 'score': 10.19}, {'connected_gene': 'RNU6-1043P', 'score': 10.18}, {'connected_gene': 'SNORA30', 'score': 9.45}, {'connected_gene': 'RNU7-61P', 'score': 0.44}, {'connected_gene': 'ITGAL', 'score': 0.37}]
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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