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
ENST00000349459 [[66234215, 66234498], [66235598, 66235751], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66244799]] [[66235599, 66235751], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66243638]]
ENST00000320740 [[66234339, 66234498], [66235598, 66235751], [66236303, 66236375], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66244808]] [[66235599, 66235751], [66236303, 66236375], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66243638]]
ENST00000532970 [[66234388, 66234498], [66235598, 66235751], [66238712, 66238833], [66239818, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66244749]] [[66235599, 66235751], [66238712, 66238833], [66239818, 66239821]]
ENST00000524466 [[66234394, 66234498], [66235598, 66235751], [66236303, 66236375], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66242122]] [[66235599, 66235751], [66236303, 66236375], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241552]]
ENST00000526296 [[66234396, 66234498], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66243314]] [[66238809, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66243314]]
ENST00000531856 [[66234428, 66234498], [66243261, 66243480]] None
ENST00000527230 [[66234862, 66235029], [66235598, 66235751], [66236303, 66236375], [66238712, 66238845]] [[66235599, 66235751], [66236303, 66236375], [66238712, 66238845]]
ENST00000528752 [[66240894, 66240906], [66241207, 66241396], [66243042, 66244808]] [[66240894, 66240906], [66241207, 66241396], [66243042, 66243045]]
NM_001243135 [[66233797, 66233916], [66235598, 66235740], [66238818, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66244808]] [[66235599, 66235740], [66238818, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66243638]]
NM_001243136 [[66234335, 66234498], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66244808]] [[66238809, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66243638]]
NM_001098510 [[66234335, 66234498], [66235598, 66235751], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66244808]] [[66235599, 66235751], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66243638]]
NM_145065 [[66234335, 66234498], [66235598, 66235751], [66236303, 66236375], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66244808]] [[66235599, 66235751], [66236303, 66236375], [66238712, 66238842], [66239839, 66239941], [66240711, 66240906], [66241207, 66241396], [66243068, 66243638]]
Promoter
Chrom Start End Description
chr11 66234337 66234424 CAGE_peak_1_at_PELI3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I066458 66458888 66459948 0.6 [{'connected_gene': 'ACTN3', 'score': 54.53}, {'connected_gene': 'ENSG00000201733', 'score': 12.25}, {'connected_gene': 'LOC100505504', 'score': 11.21}, {'connected_gene': 'NPAS4', 'score': 10.84}, {'connected_gene': 'RNU1-84P', 'score': 10.76}, {'connected_gene': 'BRD9P1', 'score': 10.76}, {'connected_gene': 'ZDHHC24', 'score': 10.6}, {'connected_gene': 'RAD9A', 'score': 9.7}, {'connected_gene': 'GC11P066455', 'score': 0.44}, {'connected_gene': 'MRPL11', 'score': 0.44}, {'connected_gene': 'PELI3', 'score': 0.44}]
chr11 GH11I066000 66000800 66003765 2.13 [{'connected_gene': 'EIF1AD', 'score': 617.99}, {'connected_gene': 'BANF1', 'score': 563.5}, {'connected_gene': 'ENSG00000258297', 'score': 72.71}, {'connected_gene': 'ZFPL1', 'score': 68.46}, {'connected_gene': 'PCNX3', 'score': 63.17}, {'connected_gene': 'POLA2', 'score': 57.94}, {'connected_gene': 'SART1', 'score': 57.73}, {'connected_gene': 'RBM14', 'score': 56.02}, {'connected_gene': 'RBM4', 'score': 53.08}, {'connected_gene': 'SF3B2', 'score': 50.51}, {'connected_gene': 'ENSG00000255320', 'score': 48.84}, {'connected_gene': 'MUS81', 'score': 44.13}, {'connected_gene': 'ENSG00000245156', 'score': 42.5}, {'connected_gene': 'KAT5', 'score': 40.97}, {'connected_gene': 'ENSG00000255038', 'score': 38.53}, {'connected_gene': 'FRMD8', 'score': 36.34}, {'connected_gene': 'RCE1', 'score': 30.66}, {'connected_gene': 'RELA', 'score': 29.41}, {'connected_gene': 'SYVN1', 'score': 23.87}, {'connected_gene': 'FAU', 'score': 19.95}, {'connected_gene': 'LOC105369352', 'score': 19.74}, {'connected_gene': 'CCS', 'score': 18.0}, {'connected_gene': 'B4GAT1', 'score': 14.93}, {'connected_gene': 'PELI3', 'score': 14.49}, {'connected_gene': 'KLC2', 'score': 12.44}, {'connected_gene': 'SCYL1', 'score': 11.06}, {'connected_gene': 'NEAT1', 'score': 11.06}, {'connected_gene': 'EHBP1L1', 'score': 10.81}, {'connected_gene': 'BBS1', 'score': 10.74}, {'connected_gene': 'SSSCA1', 'score': 10.28}, {'connected_gene': 'RNASEH2C', 'score': 10.09}, {'connected_gene': 'DPF2', 'score': 10.0}, {'connected_gene': 'LTBP3', 'score': 9.93}, {'connected_gene': 'NAALADL1', 'score': 9.93}, {'connected_gene': 'MALAT1', 'score': 9.92}, {'connected_gene': 'SNX32', 'score': 9.85}, {'connected_gene': 'SSSCA1-AS1', 'score': 9.8}, {'connected_gene': 'MAP3K11', 'score': 9.79}, {'connected_gene': 'CST6', 'score': 8.35}]
chr11 GH11I066864 66864630 66864779 0.73 [{'connected_gene': 'SPTBN2', 'score': 1.9}, {'connected_gene': 'PELI3', 'score': 1.24}, {'connected_gene': 'LRFN4', 'score': 0.44}, {'connected_gene': 'GC11M066908', 'score': 0.26}, {'connected_gene': 'GC11M066909', 'score': 0.26}, {'connected_gene': 'PC', 'score': 0.16}]
chr11 GH11I066464 66464946 66468086 1.93 [{'connected_gene': 'MRPL11', 'score': 550.77}, {'connected_gene': 'PELI3', 'score': 550.77}, {'connected_gene': 'ACTN3', 'score': 44.08}, {'connected_gene': 'DPP3', 'score': 17.97}, {'connected_gene': 'LOC101928069', 'score': 4.77}]
chr11 GH11I066508 66508662 66511595 2.06 [{'connected_gene': 'BBS1', 'score': 550.77}, {'connected_gene': 'ENSG00000256349', 'score': 550.77}, {'connected_gene': 'ENSG00000258297', 'score': 36.55}, {'connected_gene': 'RBM14', 'score': 29.35}, {'connected_gene': 'RBM4', 'score': 28.81}, {'connected_gene': 'DPP3', 'score': 26.15}, {'connected_gene': 'EIF1AD', 'score': 26.11}, {'connected_gene': 'KDM2A', 'score': 25.15}, {'connected_gene': 'PCNX3', 'score': 24.96}, {'connected_gene': 'ENSG00000245156', 'score': 24.87}, {'connected_gene': 'MUS81', 'score': 23.64}, {'connected_gene': 'SART1', 'score': 23.04}, {'connected_gene': 'RAD9A', 'score': 22.88}, {'connected_gene': 'RELA', 'score': 21.18}, {'connected_gene': 'ENSG00000255038', 'score': 20.22}, {'connected_gene': 'ENSG00000255320', 'score': 19.97}, {'connected_gene': 'SF3B2', 'score': 17.94}, {'connected_gene': 'CTSF', 'score': 15.53}, {'connected_gene': 'CORO1B', 'score': 13.25}, {'connected_gene': 'RCE1', 'score': 11.81}, {'connected_gene': 'LOC101928069', 'score': 11.71}, {'connected_gene': 'MRPL11', 'score': 11.66}, {'connected_gene': 'PELI3', 'score': 11.66}, {'connected_gene': 'RPS6KB2', 'score': 11.21}, {'connected_gene': 'EHBP1L1', 'score': 10.79}, {'connected_gene': 'SSH3', 'score': 10.77}, {'connected_gene': 'RNU1-84P', 'score': 10.67}, {'connected_gene': 'BRD9P1', 'score': 10.67}, {'connected_gene': 'CLCF1', 'score': 10.65}, {'connected_gene': 'ZDHHC24', 'score': 10.59}, {'connected_gene': 'ACTN3', 'score': 10.59}, {'connected_gene': 'RBM4B', 'score': 10.57}, {'connected_gene': 'KAT5', 'score': 10.44}, {'connected_gene': 'LOC105369352', 'score': 10.15}, {'connected_gene': 'ENSG00000201733', 'score': 10.09}, {'connected_gene': 'CCS', 'score': 10.04}]
chr11 GH11I066421 66421514 66422339 1.12 [{'connected_gene': 'NPAS4', 'score': 550.77}, {'connected_gene': 'ENSG00000258297', 'score': 61.22}, {'connected_gene': 'KDM2A', 'score': 56.87}, {'connected_gene': 'PCNX3', 'score': 56.27}, {'connected_gene': 'RBM14', 'score': 54.97}, {'connected_gene': 'RBM4', 'score': 54.59}, {'connected_gene': 'SART1', 'score': 52.6}, {'connected_gene': 'ENSG00000245156', 'score': 46.05}, {'connected_gene': 'EIF1AD', 'score': 45.24}, {'connected_gene': 'RAD9A', 'score': 43.19}, {'connected_gene': 'KAT5', 'score': 40.63}, {'connected_gene': 'MUS81', 'score': 38.83}, {'connected_gene': 'ENSG00000255320', 'score': 34.49}, {'connected_gene': 'ENSG00000255038', 'score': 30.65}, {'connected_gene': 'SF3B2', 'score': 30.37}, {'connected_gene': 'LOC105369352', 'score': 27.77}, {'connected_gene': 'SCYL1', 'score': 27.75}, {'connected_gene': 'RELA', 'score': 25.45}, {'connected_gene': 'CTSF', 'score': 22.7}, {'connected_gene': 'RCE1', 'score': 21.74}, {'connected_gene': 'BBS1', 'score': 20.09}, {'connected_gene': 'NEAT1', 'score': 19.45}, {'connected_gene': 'SSH3', 'score': 19.26}, {'connected_gene': 'CLCF1', 'score': 18.92}, {'connected_gene': 'CCS', 'score': 18.06}, {'connected_gene': 'RAB1B', 'score': 11.46}, {'connected_gene': 'KLC2', 'score': 11.4}, {'connected_gene': 'MRPL11', 'score': 10.49}, {'connected_gene': 'KRT8P26', 'score': 10.34}, {'connected_gene': 'SSSCA1', 'score': 10.26}, {'connected_gene': 'PELI3', 'score': 10.2}, {'connected_gene': 'BRMS1', 'score': 9.98}, {'connected_gene': 'MALAT1', 'score': 9.91}, {'connected_gene': 'ACTN3', 'score': 8.37}, {'connected_gene': 'ENSG00000201733', 'score': 0.39}]
chr11 GH11I066578 66578930 66579636 1.03 [{'connected_gene': 'ZDHHC24', 'score': 12.28}, {'connected_gene': 'ACTN3', 'score': 12.28}, {'connected_gene': 'RBM4B', 'score': 12.18}, {'connected_gene': 'LOC101928069', 'score': 11.74}, {'connected_gene': 'DPP3', 'score': 11.74}, {'connected_gene': 'MRPL11', 'score': 11.72}, {'connected_gene': 'PELI3', 'score': 11.72}, {'connected_gene': 'RBM14', 'score': 11.24}, {'connected_gene': 'RNU4-39P', 'score': 11.24}, {'connected_gene': 'RBM14-RBM4', 'score': 11.24}, {'connected_gene': 'PIR41584', 'score': 0.77}, {'connected_gene': 'PIR43271', 'score': 0.39}]
chr11 GH11I067116 67116867 67122539 2.22 [{'connected_gene': 'KDM2A', 'score': 600.06}, {'connected_gene': 'ENSG00000258297', 'score': 125.36}, {'connected_gene': 'RBM14', 'score': 116.21}, {'connected_gene': 'ENSG00000254461', 'score': 108.43}, {'connected_gene': 'LOC105369352', 'score': 102.71}, {'connected_gene': 'RBM4', 'score': 64.52}, {'connected_gene': 'RCE1', 'score': 52.76}, {'connected_gene': 'RAD9A', 'score': 51.31}, {'connected_gene': 'ENSG00000245156', 'score': 51.2}, {'connected_gene': 'ENSG00000255320', 'score': 31.79}, {'connected_gene': 'SSH3', 'score': 29.73}, {'connected_gene': 'BBS1', 'score': 28.31}, {'connected_gene': 'CORO1B', 'score': 21.35}, {'connected_gene': 'FAM86C2P', 'score': 20.99}, {'connected_gene': 'RPS6KB2', 'score': 20.75}, {'connected_gene': 'CD248', 'score': 19.64}, {'connected_gene': 'KLC2', 'score': 19.48}, {'connected_gene': 'MRPL11', 'score': 18.34}, {'connected_gene': 'RBM4B', 'score': 13.8}, {'connected_gene': 'B4GAT1', 'score': 12.64}, {'connected_gene': 'CCS', 'score': 11.51}, {'connected_gene': 'PTPRCAP', 'score': 11.49}, {'connected_gene': 'RAB1B', 'score': 11.38}, {'connected_gene': 'CLCF1', 'score': 10.03}, {'connected_gene': 'PELI3', 'score': 9.97}, {'connected_gene': 'BRMS1', 'score': 9.83}, {'connected_gene': 'LOC101928069', 'score': 9.75}, {'connected_gene': 'CARNS1', 'score': 5.77}, {'connected_gene': 'ENSG00000179038', 'score': 0.18}]
chr11 GH11I066996 66996538 66998030 0.92 [{'connected_gene': 'RBM14', 'score': 91.42}, {'connected_gene': 'LOC105369352', 'score': 76.58}, {'connected_gene': 'ENSG00000254461', 'score': 68.72}, {'connected_gene': 'ENSG00000258297', 'score': 68.16}, {'connected_gene': 'RBM4', 'score': 53.79}, {'connected_gene': 'ENSG00000255038', 'score': 50.66}, {'connected_gene': 'SF3B2', 'score': 47.33}, {'connected_gene': 'RAD9A', 'score': 42.41}, {'connected_gene': 'RCE1', 'score': 41.91}, {'connected_gene': 'ENSG00000245156', 'score': 41.79}, {'connected_gene': 'EIF1AD', 'score': 41.59}, {'connected_gene': 'KDM2A', 'score': 39.91}, {'connected_gene': 'ENSG00000255320', 'score': 22.52}, {'connected_gene': 'RPS6KB2', 'score': 20.74}, {'connected_gene': 'KLC2', 'score': 19.48}, {'connected_gene': 'MRPL11', 'score': 18.34}, {'connected_gene': 'B4GAT1', 'score': 12.64}, {'connected_gene': 'CORO1B', 'score': 12.5}, {'connected_gene': 'FAM86C2P', 'score': 12.4}, {'connected_gene': 'BBS1', 'score': 11.64}, {'connected_gene': 'CCS', 'score': 11.53}, {'connected_gene': 'RAB1B', 'score': 11.38}, {'connected_gene': 'RHOD', 'score': 11.01}, {'connected_gene': 'SSH3', 'score': 10.25}, {'connected_gene': 'CLCF1', 'score': 10.01}, {'connected_gene': 'PELI3', 'score': 9.97}, {'connected_gene': 'BRMS1', 'score': 9.83}, {'connected_gene': 'LOC101928069', 'score': 9.75}, {'connected_gene': 'SYT12', 'score': 0.44}, {'connected_gene': 'C11orf86', 'score': 0.34}]
chr11 GH11I066454 66454309 66454495 0.37 [{'connected_gene': 'LOC100505524', 'score': 550.77}, {'connected_gene': 'GC11P066455', 'score': 550.77}, {'connected_gene': 'LOC101928069', 'score': 12.25}, {'connected_gene': 'DPP3', 'score': 12.25}, {'connected_gene': 'RBM4', 'score': 11.5}, {'connected_gene': 'NPAS4', 'score': 11.44}, {'connected_gene': 'LOC100505504', 'score': 11.33}, {'connected_gene': 'RNU1-84P', 'score': 11.09}, {'connected_gene': 'BRD9P1', 'score': 11.09}, {'connected_gene': 'CD248', 'score': 9.62}, {'connected_gene': 'MRPL11', 'score': 0.39}, {'connected_gene': 'PELI3', 'score': 0.39}]
chr11 GH11I066408 66408409 66411181 1.47 [{'connected_gene': 'LOC100505504', 'score': 556.29}, {'connected_gene': 'RIN1', 'score': 14.94}, {'connected_gene': 'ACTN3', 'score': 13.59}, {'connected_gene': 'ENSG00000201733', 'score': 11.51}, {'connected_gene': 'SLC29A2', 'score': 11.29}, {'connected_gene': 'MRPL11', 'score': 11.16}, {'connected_gene': 'PELI3', 'score': 11.16}, {'connected_gene': 'LOC101928069', 'score': 11.13}, {'connected_gene': 'DPP3', 'score': 11.13}, {'connected_gene': 'ENSG00000255320', 'score': 9.58}, {'connected_gene': 'PACS1', 'score': 9.54}, {'connected_gene': 'NPAS4', 'score': 0.39}]
chr11 GH11I066386 66386072 66386800 0.99 [{'connected_gene': 'LOC100505504', 'score': 12.34}, {'connected_gene': 'NPAS4', 'score': 11.42}, {'connected_gene': 'ENSG00000201733', 'score': 11.11}, {'connected_gene': 'PELI3', 'score': 10.55}, {'connected_gene': 'MRPL11', 'score': 10.55}, {'connected_gene': 'LOC101928069', 'score': 10.53}, {'connected_gene': 'DPP3', 'score': 10.53}, {'connected_gene': 'YIF1A', 'score': 10.44}, {'connected_gene': 'TMEM151A', 'score': 10.39}, {'connected_gene': 'KLC2', 'score': 10.03}, {'connected_gene': 'ENSG00000254461', 'score': 10.03}, {'connected_gene': 'BRD9P1', 'score': 0.77}, {'connected_gene': 'ENSG00000276918', 'score': 0.39}]

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