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
ENST00000312515 [[65686727, 65687014], [65687250, 65687323], [65687418, 65687512], [65687813, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65689032]] [[65686972, 65687014], [65687250, 65687323], [65687418, 65687512], [65687813, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65688906]]
ENST00000525501 [[65686744, 65687014], [65687250, 65687323], [65687418, 65687468], [65687886, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65688872]] [[65686972, 65687014], [65687250, 65687323], [65687418, 65687468], [65687886, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65688872]]
ENST00000376991 [[65686805, 65687014], [65687250, 65687323], [65687418, 65687512], [65687813, 65687933], [65688018, 65688133], [65688354, 65688443], [65688800, 65688919]] [[65686972, 65687014], [65687250, 65687323], [65687418, 65687512], [65687813, 65687933], [65688018, 65688133], [65688354, 65688443], [65688800, 65688906]]
ENST00000531121 [[65686907, 65687014], [65687250, 65687512], [65687813, 65687933], [65688039, 65688133], [65688354, 65688443]] None
ENST00000527119 [[65686972, 65687014], [65687477, 65687512], [65687813, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65689001]] [[65686972, 65687014], [65687477, 65687512], [65687813, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65688906]]
ENST00000532933 [[65687194, 65687323], [65687418, 65687512], [65687813, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65689025]] [[65687268, 65687323], [65687418, 65687512], [65687813, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65688906]]
ENST00000530791 [[65687600, 65688133], [65688354, 65688443], [65688800, 65689015]] None
ENST00000534333 [[65687784, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65688921]] None
ENST00000525190 [[65688522, 65688996]] None
NM_006442 [[65686727, 65687014], [65687250, 65687323], [65687418, 65687512], [65687813, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65689048]] [[65686972, 65687014], [65687250, 65687323], [65687418, 65687512], [65687813, 65687933], [65688039, 65688133], [65688354, 65688443], [65688800, 65688906]]
Promoter
Chrom Start End Description
chr11 65686689 65686700 CAGE_peak_14_at_DRAP1_5end
chr11 65686702 65686715 CAGE_peak_11_at_DRAP1_5end
chr11 65686732 65686756 CAGE_peak_2_at_DRAP1_5end
chr11 65686776 65686787 CAGE_peak_9_at_DRAP1_5end
chr11 65686802 65686818 CAGE_peak_6_at_DRAP1_5end
chr11 65686855 65686946 CAGE_peak_1_at_DRAP1_5end
chr11 65686952 65686975 CAGE_peak_5_at_DRAP1_5end
chr11 65687158 65687216 CAGE_peak_4_at_DRAP1_5end
chr11 65687222 65687240 CAGE_peak_7_at_DRAP1_5end
chr11 65687243 65687276 CAGE_peak_8_at_DRAP1_5end
chr11 65687362 65687436 CAGE_peak_3_at_DRAP1_5end
chr11 65687882 65687902 CAGE_peak_10_at_DRAP1_5end
chr11 65688056 65688069 CAGE_peak_21_at_DRAP1_5end
chr11 65688877 65688891 CAGE_peak_13_at_DRAP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH11I065940 65940354 65942382 1.09 [{'connected_gene': 'SART1', 'score': 12.75}, {'connected_gene': 'DRAP1', 'score': 12.19}, {'connected_gene': 'C11orf68', 'score': 12.19}, {'connected_gene': 'FOSL1', 'score': 12.11}, {'connected_gene': 'CCDC85B', 'score': 11.67}, {'connected_gene': 'FIBP', 'score': 11.67}, {'connected_gene': 'CTSW', 'score': 11.33}, {'connected_gene': 'EFEMP2', 'score': 11.32}, {'connected_gene': 'CFL1', 'score': 11.3}, {'connected_gene': 'EIF1AD', 'score': 11.3}, {'connected_gene': 'BANF1', 'score': 11.3}, {'connected_gene': 'MUS81', 'score': 11.29}, {'connected_gene': 'CST6', 'score': 11.28}, {'connected_gene': 'TSGA10IP', 'score': 10.91}, {'connected_gene': 'LOC105369350', 'score': 0.77}, {'connected_gene': 'LOC105369349', 'score': 0.37}]
chr11 GH11I065886 65886248 65904668 2.68 [{'connected_gene': 'FOSL1', 'score': 559.75}, {'connected_gene': 'FIBP', 'score': 554.55}, {'connected_gene': 'CCDC85B', 'score': 552.32}, {'connected_gene': 'SNX32', 'score': 68.65}, {'connected_gene': 'ENSG00000258297', 'score': 64.02}, {'connected_gene': 'EIF1AD', 'score': 63.47}, {'connected_gene': 'RBM14', 'score': 58.97}, {'connected_gene': 'MUS81', 'score': 56.98}, {'connected_gene': 'SART1', 'score': 55.66}, {'connected_gene': 'POLA2', 'score': 54.83}, {'connected_gene': 'CTSW', 'score': 51.18}, {'connected_gene': 'KAT5', 'score': 49.25}, {'connected_gene': 'ZFPL1', 'score': 47.51}, {'connected_gene': 'RBM4', 'score': 43.51}, {'connected_gene': 'PCNX3', 'score': 41.52}, {'connected_gene': 'ENSG00000254461', 'score': 40.96}, {'connected_gene': 'SF3B2', 'score': 40.58}, {'connected_gene': 'RELA', 'score': 39.91}, {'connected_gene': 'ENSG00000255320', 'score': 36.37}, {'connected_gene': 'LOC105369352', 'score': 31.47}, {'connected_gene': 'FAU', 'score': 31.06}, {'connected_gene': 'FRMD8', 'score': 27.41}, {'connected_gene': 'DPF2', 'score': 26.38}, {'connected_gene': 'ENSG00000245156', 'score': 23.58}, {'connected_gene': 'RNASEH2C', 'score': 22.43}, {'connected_gene': 'NAALADL1', 'score': 21.52}, {'connected_gene': 'RBM4B', 'score': 20.24}, {'connected_gene': 'ENSG00000255038', 'score': 20.0}, {'connected_gene': 'CCS', 'score': 18.22}, {'connected_gene': 'RAB1B', 'score': 15.6}, {'connected_gene': 'BBS1', 'score': 15.21}, {'connected_gene': 'CFL1', 'score': 15.2}, {'connected_gene': 'NEAT1', 'score': 14.48}, {'connected_gene': 'SSSCA1-AS1', 'score': 13.19}, {'connected_gene': 'SYVN1', 'score': 12.92}, {'connected_gene': 'SSSCA1', 'score': 12.89}, {'connected_gene': 'SCYL1', 'score': 12.65}, {'connected_gene': 'BANF1', 'score': 12.26}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'KLC2', 'score': 11.19}, {'connected_gene': 'CST6', 'score': 11.05}, {'connected_gene': 'RCE1', 'score': 10.87}, {'connected_gene': 'ATG2A', 'score': 10.86}, {'connected_gene': 'NPAS4', 'score': 10.09}, {'connected_gene': 'CTSF', 'score': 10.05}, {'connected_gene': 'MALAT1', 'score': 9.93}, {'connected_gene': 'CD248', 'score': 9.75}, {'connected_gene': 'EFEMP2', 'score': 9.32}, {'connected_gene': 'TSGA10IP', 'score': 7.63}, {'connected_gene': 'OVOL1-AS1', 'score': 5.95}, {'connected_gene': 'DRAP1', 'score': 4.48}, {'connected_gene': 'RIN1', 'score': 3.28}, {'connected_gene': 'BRMS1', 'score': 2.64}, {'connected_gene': 'YIF1A', 'score': 2.47}, {'connected_gene': 'AP5B1', 'score': 2.34}, {'connected_gene': 'MAP3K11', 'score': 1.99}, {'connected_gene': 'C11orf68', 'score': 1.93}, {'connected_gene': 'EHBP1L1', 'score': 1.52}]
chr11 GH11I065945 65945172 65946419 0.77 [{'connected_gene': 'TSGA10IP', 'score': 550.77}, {'connected_gene': 'LOC105369350', 'score': 550.77}, {'connected_gene': 'DRAP1', 'score': 12.6}, {'connected_gene': 'C11orf68', 'score': 12.6}, {'connected_gene': 'FOSL1', 'score': 12.53}, {'connected_gene': 'EIF1AD', 'score': 11.4}, {'connected_gene': 'BANF1', 'score': 11.4}, {'connected_gene': 'CST6', 'score': 11.38}, {'connected_gene': 'CTSW', 'score': 11.37}, {'connected_gene': 'EFEMP2', 'score': 11.36}, {'connected_gene': 'CFL1', 'score': 11.34}, {'connected_gene': 'MUS81', 'score': 11.33}, {'connected_gene': 'CCDC85B', 'score': 11.18}, {'connected_gene': 'FIBP', 'score': 11.18}, {'connected_gene': 'CATSPER1', 'score': 10.78}, {'connected_gene': 'OVOL1-AS1', 'score': 10.13}, {'connected_gene': 'OVOL1', 'score': 10.12}, {'connected_gene': 'AP5B1', 'score': 10.12}, {'connected_gene': 'SART1', 'score': 0.37}]
chr11 GH11I065910 65910046 65921408 2.63 [{'connected_gene': 'DRAP1', 'score': 555.34}, {'connected_gene': 'C11orf68', 'score': 553.0}, {'connected_gene': 'RBM14', 'score': 55.65}, {'connected_gene': 'LOC105369352', 'score': 49.09}, {'connected_gene': 'ZFPL1', 'score': 46.26}, {'connected_gene': 'ENSG00000254461', 'score': 44.43}, {'connected_gene': 'MUS81', 'score': 43.91}, {'connected_gene': 'ENSG00000258297', 'score': 43.65}, {'connected_gene': 'EIF1AD', 'score': 40.3}, {'connected_gene': 'PCNX3', 'score': 37.29}, {'connected_gene': 'RBM4', 'score': 36.59}, {'connected_gene': 'KAT5', 'score': 35.98}, {'connected_gene': 'POLA2', 'score': 34.75}, {'connected_gene': 'SF3B2', 'score': 30.26}, {'connected_gene': 'DPF2', 'score': 25.4}, {'connected_gene': 'SART1', 'score': 25.04}, {'connected_gene': 'ENSG00000255320', 'score': 24.78}, {'connected_gene': 'SCYL1', 'score': 23.06}, {'connected_gene': 'RNASEH2C', 'score': 21.42}, {'connected_gene': 'ENSG00000245156', 'score': 21.01}, {'connected_gene': 'MRPL11', 'score': 19.16}, {'connected_gene': 'RAB1B', 'score': 17.29}, {'connected_gene': 'SSSCA1', 'score': 14.18}, {'connected_gene': 'RELA', 'score': 13.52}, {'connected_gene': 'FOSL1', 'score': 12.8}, {'connected_gene': 'BRMS1', 'score': 12.55}, {'connected_gene': 'NAALADL1', 'score': 11.93}, {'connected_gene': 'CTSF', 'score': 11.78}, {'connected_gene': 'BBS1', 'score': 11.39}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'ATG2A', 'score': 11.08}, {'connected_gene': 'ENSG00000255038', 'score': 10.63}, {'connected_gene': 'TSGA10IP', 'score': 10.33}, {'connected_gene': 'FRMD8', 'score': 10.02}, {'connected_gene': 'RCE1', 'score': 10.0}, {'connected_gene': 'RBM4B', 'score': 9.86}, {'connected_gene': 'SSSCA1-AS1', 'score': 9.81}, {'connected_gene': 'SNX32', 'score': 9.3}, {'connected_gene': 'CST6', 'score': 6.93}, {'connected_gene': 'CTSW', 'score': 5.7}, {'connected_gene': 'RIN1', 'score': 5.33}, {'connected_gene': 'FIBP', 'score': 5.23}, {'connected_gene': 'TMEM151A', 'score': 4.85}, {'connected_gene': 'CFL1', 'score': 3.71}, {'connected_gene': 'YIF1A', 'score': 3.31}, {'connected_gene': 'CCDC85B', 'score': 2.54}, {'connected_gene': 'KLC2', 'score': 1.69}, {'connected_gene': 'BANF1', 'score': 1.44}, {'connected_gene': 'GC11P065910', 'score': 0.77}]
chr11 GH11I065470 65470088 65510079 2.89 [{'connected_gene': 'LOC105369346', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 189.69}, {'connected_gene': 'PCNX3', 'score': 160.7}, {'connected_gene': 'POLA2', 'score': 158.56}, {'connected_gene': 'ZFPL1', 'score': 157.11}, {'connected_gene': 'EIF1AD', 'score': 154.22}, {'connected_gene': 'SART1', 'score': 127.69}, {'connected_gene': 'MUS81', 'score': 123.55}, {'connected_gene': 'LOC105369352', 'score': 116.17}, {'connected_gene': 'KAT5', 'score': 100.18}, {'connected_gene': 'ENSG00000255320', 'score': 96.85}, {'connected_gene': 'RELA', 'score': 96.16}, {'connected_gene': 'SF3B2', 'score': 94.84}, {'connected_gene': 'FRMD8', 'score': 88.89}, {'connected_gene': 'ENSG00000245156', 'score': 84.38}, {'connected_gene': 'ENSG00000255038', 'score': 77.14}, {'connected_gene': 'ENSG00000254461', 'score': 73.84}, {'connected_gene': 'SCYL1', 'score': 66.44}, {'connected_gene': 'MRPL11', 'score': 65.32}, {'connected_gene': 'NEAT1', 'score': 64.84}, {'connected_gene': 'SYVN1', 'score': 59.82}, {'connected_gene': 'ATG2A', 'score': 54.93}, {'connected_gene': 'NAALADL1', 'score': 54.58}, {'connected_gene': 'FAU', 'score': 50.66}, {'connected_gene': 'MEN1', 'score': 46.37}, {'connected_gene': 'RAB1B', 'score': 35.68}, {'connected_gene': 'ZNHIT2', 'score': 33.24}, {'connected_gene': 'VPS51', 'score': 31.76}, {'connected_gene': 'SSSCA1-AS1', 'score': 31.65}, {'connected_gene': 'EHBP1L1', 'score': 31.53}, {'connected_gene': 'ENSG00000269038', 'score': 30.32}, {'connected_gene': 'SSSCA1', 'score': 29.87}, {'connected_gene': 'LOC101928069', 'score': 29.44}, {'connected_gene': 'LOC101927789', 'score': 25.95}, {'connected_gene': 'CD248', 'score': 20.19}, {'connected_gene': 'BRMS1', 'score': 18.17}, {'connected_gene': 'CDC42EP2', 'score': 17.45}, {'connected_gene': 'SLC25A45', 'score': 14.01}, {'connected_gene': 'DPF2', 'score': 13.74}, {'connected_gene': 'MIR612', 'score': 12.86}, {'connected_gene': 'ENSG00000255478', 'score': 12.09}, {'connected_gene': 'KCNK7', 'score': 11.86}, {'connected_gene': 'RNASEH2C', 'score': 11.28}, {'connected_gene': 'SAC3D1', 'score': 10.98}, {'connected_gene': 'SNX32', 'score': 10.73}, {'connected_gene': 'MALAT1', 'score': 10.32}, {'connected_gene': 'MRPL49', 'score': 10.06}, {'connected_gene': 'AP5B1', 'score': 6.63}, {'connected_gene': 'LOC728975', 'score': 5.96}, {'connected_gene': 'YIF1A', 'score': 5.76}, {'connected_gene': 'KRT8P26', 'score': 5.19}, {'connected_gene': 'TSGA10IP', 'score': 4.06}, {'connected_gene': 'MAP3K11', 'score': 3.96}, {'connected_gene': 'BATF2', 'score': 3.6}, {'connected_gene': 'EFEMP2', 'score': 2.32}, {'connected_gene': 'C11orf68', 'score': 1.81}, {'connected_gene': 'LTBP3', 'score': 1.66}, {'connected_gene': 'DRAP1', 'score': 1.46}, {'connected_gene': 'SIPA1', 'score': 1.37}, {'connected_gene': 'GC11M065481', 'score': 0.44}, {'connected_gene': 'GC11P065503', 'score': 0.44}, {'connected_gene': 'ENSG00000270117', 'score': 0.44}, {'connected_gene': 'GC11P065527', 'score': 0.39}, {'connected_gene': 'ENSG00000278217', 'score': 0.39}, {'connected_gene': 'ENSG00000274072', 'score': 0.37}]

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