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
ENST00000311181 [[66112842, 66113711], [66113960, 66115163]] [[66113519, 66113711], [66113960, 66115016]]
NM_006876 [[66112842, 66113711], [66113960, 66115161]] [[66113519, 66113711], [66113960, 66115016]]
Promoter
Chrom Start End Description
chr11 66115008 66115026 CAGE_peak_2_at_B3GNT1_5end
chr11 66115032 66115144 CAGE_peak_1_at_B3GNT1_5end
chr11 66115306 66115327 CAGE_peak_4_at_B3GNT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I066333 66333590 66339767 2.21 [{'connected_gene': 'RIN1', 'score': 601.48}, {'connected_gene': 'ACTN3', 'score': 23.52}, {'connected_gene': 'ENSG00000254458', 'score': 11.73}, {'connected_gene': 'B4GAT1', 'score': 10.39}, {'connected_gene': 'RAB1B', 'score': 10.32}, {'connected_gene': 'LOC105369351', 'score': 10.32}, {'connected_gene': 'LOC105369352', 'score': 10.31}, {'connected_gene': 'ENSG00000255320', 'score': 10.14}, {'connected_gene': 'PACS1', 'score': 10.04}, {'connected_gene': 'EIF1AD', 'score': 9.29}, {'connected_gene': 'BANF1', 'score': 9.29}, {'connected_gene': 'CST6', 'score': 9.29}, {'connected_gene': 'LOC102724064', 'score': 8.84}, {'connected_gene': 'ANKRD13D', 'score': 8.72}, {'connected_gene': 'RHOD', 'score': 5.03}, {'connected_gene': 'EHBP1L1', 'score': 4.45}, {'connected_gene': 'ENSG00000254756', 'score': 0.77}, {'connected_gene': 'BRMS1', 'score': 0.44}]
chr11 GH11I066324 66324158 66329552 1.68 [{'connected_gene': 'RIN1', 'score': 42.21}, {'connected_gene': 'ACTN3', 'score': 23.09}, {'connected_gene': 'YIF1A', 'score': 12.93}, {'connected_gene': 'TMEM151A', 'score': 11.69}, {'connected_gene': 'LOC100505504', 'score': 10.75}, {'connected_gene': 'SLC29A2', 'score': 10.68}, {'connected_gene': 'ENSG00000255320', 'score': 10.11}, {'connected_gene': 'PACS1', 'score': 10.01}, {'connected_gene': 'ENSG00000201733', 'score': 9.7}, {'connected_gene': 'CTSF', 'score': 9.69}, {'connected_gene': 'LOC101928069', 'score': 4.22}, {'connected_gene': 'B4GAT1', 'score': 4.19}, {'connected_gene': 'RHOD', 'score': 4.04}, {'connected_gene': 'C11orf80', 'score': 3.81}, {'connected_gene': 'FIBP', 'score': 2.06}, {'connected_gene': 'DRAP1', 'score': 1.85}, {'connected_gene': 'CD248', 'score': 1.72}, {'connected_gene': 'CFL1', 'score': 1.53}, {'connected_gene': 'ENSG00000254756', '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 GH11I065414 65414759 65433603 2.43 [{'connected_gene': 'NEAT1', 'score': 621.1}, {'connected_gene': 'ENSG00000278050', 'score': 550.77}, {'connected_gene': 'ENSG00000278144', 'score': 550.77}, {'connected_gene': 'ENSG00000277599', 'score': 550.77}, {'connected_gene': 'GC11P065529', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 122.53}, {'connected_gene': 'ZFPL1', 'score': 104.38}, {'connected_gene': 'EIF1AD', 'score': 100.29}, {'connected_gene': 'POLA2', 'score': 94.05}, {'connected_gene': 'PCNX3', 'score': 92.79}, {'connected_gene': 'LOC105369352', 'score': 88.99}, {'connected_gene': 'MUS81', 'score': 79.86}, {'connected_gene': 'KAT5', 'score': 78.49}, {'connected_gene': 'SART1', 'score': 75.75}, {'connected_gene': 'RELA', 'score': 67.36}, {'connected_gene': 'ENSG00000255320', 'score': 67.33}, {'connected_gene': 'ENSG00000245156', 'score': 61.64}, {'connected_gene': 'ENSG00000254461', 'score': 57.96}, {'connected_gene': 'FRMD8', 'score': 50.93}, {'connected_gene': 'SF3B2', 'score': 50.6}, {'connected_gene': 'FAU', 'score': 48.27}, {'connected_gene': 'ENSG00000255038', 'score': 46.75}, {'connected_gene': 'SCYL1', 'score': 40.16}, {'connected_gene': 'NAALADL1', 'score': 32.4}, {'connected_gene': 'SSSCA1', 'score': 28.83}, {'connected_gene': 'ATG2A', 'score': 26.83}, {'connected_gene': 'ZNHIT2', 'score': 25.36}, {'connected_gene': 'SYVN1', 'score': 22.96}, {'connected_gene': 'ENSG00000269038', 'score': 22.26}, {'connected_gene': 'SSSCA1-AS1', 'score': 21.88}, {'connected_gene': 'RNASEH2C', 'score': 21.88}, {'connected_gene': 'RAB1B', 'score': 21.84}, {'connected_gene': 'MEN1', 'score': 20.75}, {'connected_gene': 'DPF2', 'score': 19.76}, {'connected_gene': 'MAP3K11', 'score': 18.69}, {'connected_gene': 'AP5B1', 'score': 18.38}, {'connected_gene': 'B4GAT1', 'score': 14.91}, {'connected_gene': 'VPS51', 'score': 13.42}, {'connected_gene': 'NRXN2', 'score': 13.05}, {'connected_gene': 'KLC2', 'score': 12.4}, {'connected_gene': 'EHBP1L1', 'score': 12.35}, {'connected_gene': 'BRMS1', 'score': 11.93}, {'connected_gene': 'SIPA1', 'score': 11.4}, {'connected_gene': 'SAC3D1', 'score': 10.99}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'LTBP3', 'score': 10.1}, {'connected_gene': 'MALAT1', 'score': 10.08}, {'connected_gene': 'MRPL49', 'score': 10.07}, {'connected_gene': 'SNX32', 'score': 9.8}, {'connected_gene': 'CD248', 'score': 9.73}, {'connected_gene': 'TIGD3', 'score': 9.56}, {'connected_gene': 'BATF2', 'score': 9.28}, {'connected_gene': 'KCNK7', 'score': 6.66}, {'connected_gene': 'KRT8P26', 'score': 4.82}, {'connected_gene': 'CDC42EP2', 'score': 4.67}, {'connected_gene': 'ARL2', 'score': 4.59}, {'connected_gene': 'LOC101927789', 'score': 4.54}, {'connected_gene': 'TSGA10IP', 'score': 3.92}, {'connected_gene': 'SLC25A45', 'score': 2.61}, {'connected_gene': 'GC11P065418', 'score': 0.44}, {'connected_gene': 'GC11P065531', 'score': 0.37}]
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 GH11I066342 66342656 66354433 2.59 [{'connected_gene': 'LOC102724064', 'score': 561.62}, {'connected_gene': 'B4GAT1', 'score': 560.78}, {'connected_gene': 'TRS-GCT3-1', 'score': 550.77}, {'connected_gene': 'BRMS1', 'score': 550.77}, {'connected_gene': 'RIN1', 'score': 37.29}, {'connected_gene': 'ENSG00000258297', 'score': 36.88}, {'connected_gene': 'RBM14', 'score': 31.44}, {'connected_gene': 'LOC105369352', 'score': 29.59}, {'connected_gene': 'ACTN3', 'score': 23.57}, {'connected_gene': 'RBM4', 'score': 22.74}, {'connected_gene': 'ENSG00000255320', 'score': 21.53}, {'connected_gene': 'EIF1AD', 'score': 21.44}, {'connected_gene': 'CTSF', 'score': 18.73}, {'connected_gene': 'ENSG00000254458', 'score': 17.78}, {'connected_gene': 'MUS81', 'score': 15.0}, {'connected_gene': 'ENSG00000245156', 'score': 14.14}, {'connected_gene': 'ENSG00000254461', 'score': 13.76}, {'connected_gene': 'SART1', 'score': 13.37}, {'connected_gene': 'RELA', 'score': 13.11}, {'connected_gene': 'PCNX3', 'score': 12.85}, {'connected_gene': 'KDM2A', 'score': 12.16}, {'connected_gene': 'RAD9A', 'score': 12.13}, {'connected_gene': 'SSSCA1-AS1', 'score': 11.4}, {'connected_gene': 'CD248', 'score': 11.06}, {'connected_gene': 'NEAT1', 'score': 11.06}, {'connected_gene': 'RCE1', 'score': 10.96}, {'connected_gene': 'ENSG00000255038', 'score': 10.91}, {'connected_gene': 'SSH3', 'score': 10.76}, {'connected_gene': 'KAT5', 'score': 10.44}, {'connected_gene': 'FRMD8', 'score': 10.05}, {'connected_gene': 'SF3B2', 'score': 9.93}, {'connected_gene': 'CCS', 'score': 9.93}, {'connected_gene': 'MALAT1', 'score': 9.91}, {'connected_gene': 'RAB1B', 'score': 9.74}, {'connected_gene': 'LOC105369351', 'score': 9.68}, {'connected_gene': 'PACS1', 'score': 9.52}, {'connected_gene': 'CST6', 'score': 9.29}, {'connected_gene': 'BANF1', 'score': 9.29}, {'connected_gene': 'PC', 'score': 8.67}, {'connected_gene': 'LOC101928069', 'score': 4.25}, {'connected_gene': 'GC11P066354', 'score': 0.44}]

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