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
ENST00000338677 [[76135621, 76136187], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76191767, 76193380]] [[76136007, 76136187], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76191767, 76191828]]
ENST00000267938 [[76135625, 76136187], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76193419]] [[76136007, 76136187], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76191799]]
ENST00000569423 [[76135647, 76136187], [76146726, 76146828], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76193385]] [[76136007, 76136187], [76146726, 76146828], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76191799]]
ENST00000561723 [[76135908, 76136187], [76146726, 76146828], [76175706, 76175765], [76189335, 76189402], [76191767, 76191835]] [[76136007, 76136187], [76146726, 76146828], [76175706, 76175765], [76189335, 76189351]]
ENST00000561851 [[76136384, 76136826], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76191991]] [[76136694, 76136826], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76191799]]
ENST00000426727 [[76152280, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76191767, 76193385]] [[76152280, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76191767, 76191828]]
ENST00000562635 [[76136487, 76136930], [76146726, 76146828], [76152218, 76152226]] None
ENST00000567921 [[76161291, 76161351], [76165768, 76165909], [76175706, 76175765], [76189335, 76189402], [76191767, 76191918]] [[76161291, 76161351], [76165768, 76165909], [76175706, 76175765], [76189335, 76189351]]
ENST00000563966 [[76170526, 76170701], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189403]] None
NM_001284382 [[76135626, 76136187], [76146726, 76146828], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76193388]] [[76136007, 76136187], [76146726, 76146828], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76191799]]
NM_173469 [[76135626, 76136187], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76193388]] [[76136007, 76136187], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76191799]]
NM_001145335 [[76136384, 76136826], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76193388]] [[76136694, 76136826], [76146726, 76146828], [76152218, 76152323], [76161291, 76161351], [76165768, 76165909], [76168527, 76168612], [76170301, 76170362], [76171438, 76171529], [76175706, 76175765], [76182775, 76182824], [76183259, 76183355], [76189335, 76189402], [76191767, 76191799]]
Promoter
Chrom Start End Description
chr15 76135710 76135719 CAGE_peak_13_at_UBE2Q2_5end
chr15 76135757 76135766 CAGE_peak_8_at_UBE2Q2_5end
chr15 76135779 76135795 CAGE_peak_2_at_UBE2Q2_5end
chr15 76135796 76135807 CAGE_peak_4_at_UBE2Q2_5end
chr15 76135814 76135869 CAGE_peak_1_at_UBE2Q2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I075836 75836253 75837677 0.84 [{'connected_gene': 'UBE2Q2', 'score': 0.44}, {'connected_gene': 'DNM1P49', 'score': 0.26}]
chr15 GH15I075822 75822351 75822469 0.38 [{'connected_gene': 'UBE2Q2', 'score': 0.34}, {'connected_gene': 'DNM1P49', 'score': 0.31}]
chr15 GH15I075572 75572402 75573529 0.69 [{'connected_gene': 'UBE2Q2', 'score': 5.53}, {'connected_gene': 'PTPN9', 'score': 0.44}, {'connected_gene': 'ENSG00000260269', 'score': 0.31}, {'connected_gene': 'ENSG00000259931', 'score': 0.22}]
chr15 GH15I075842 75842478 75845598 2 [{'connected_gene': 'UBE2Q2', 'score': 557.4}, {'connected_gene': 'SIN3A', 'score': 19.85}, {'connected_gene': 'ENSG00000260274', 'score': 14.62}, {'connected_gene': 'MAN2C1', 'score': 12.03}, {'connected_gene': 'COMMD4', 'score': 11.42}, {'connected_gene': 'FBXO22', 'score': 10.59}, {'connected_gene': 'MIR631', 'score': 7.91}, {'connected_gene': 'SCAMP5', 'score': 7.38}, {'connected_gene': 'LOC101929439', 'score': 4.72}, {'connected_gene': 'RN7SL510P', 'score': 0.23}]
chr15 GH15I075862 75862509 75863769 0.49 [{'connected_gene': 'UBE2Q2', 'score': 0.37}, {'connected_gene': 'RN7SL510P', 'score': 0.29}]
chr15 GH15I075847 75847201 75847400 0.49 [{'connected_gene': 'UBE2Q2', 'score': 0.77}, {'connected_gene': 'RN7SL510P', 'score': 0.25}]
chr15 GH15I075346 75346626 75351600 2.22 [{'connected_gene': 'NEIL1', 'score': 560.67}, {'connected_gene': 'ENSG00000275645', 'score': 550.77}, {'connected_gene': 'ENSG00000260274', 'score': 43.34}, {'connected_gene': 'DNM1P35', 'score': 40.61}, {'connected_gene': 'EDC3', 'score': 37.93}, {'connected_gene': 'SIN3A', 'score': 36.7}, {'connected_gene': 'MAN2C1', 'score': 32.78}, {'connected_gene': 'SNUPN', 'score': 32.64}, {'connected_gene': 'FBXO22', 'score': 25.38}, {'connected_gene': 'LOC441728', 'score': 23.02}, {'connected_gene': 'SNX33', 'score': 14.29}, {'connected_gene': 'ENSG00000203392', 'score': 14.1}, {'connected_gene': 'COMMD4', 'score': 12.47}, {'connected_gene': 'PTPN9', 'score': 10.5}, {'connected_gene': 'UBE2Q2', 'score': 9.81}, {'connected_gene': 'MIR631', 'score': 0.77}, {'connected_gene': 'GC15M075347', 'score': 0.77}]
chr15 GH15I075810 75810060 75810209 0.66 [{'connected_gene': 'DNM1P49', 'score': 0.37}, {'connected_gene': 'UBE2Q2', 'score': 0.29}]
chr15 GH15I074888 74888649 74892609 2.27 [{'connected_gene': 'MPI', 'score': 568.72}, {'connected_gene': 'RPP25', 'score': 38.07}, {'connected_gene': 'SIN3A', 'score': 34.3}, {'connected_gene': 'ENSG00000203392', 'score': 28.81}, {'connected_gene': 'SNX33', 'score': 26.98}, {'connected_gene': 'ISLR', 'score': 24.52}, {'connected_gene': 'PTPN9', 'score': 19.83}, {'connected_gene': 'MAN2C1', 'score': 13.77}, {'connected_gene': 'PML', 'score': 13.29}, {'connected_gene': 'SCAMP5', 'score': 11.49}, {'connected_gene': 'EDC3', 'score': 11.41}, {'connected_gene': 'COMMD4', 'score': 11.1}, {'connected_gene': 'LOC441728', 'score': 10.83}, {'connected_gene': 'DNM1P35', 'score': 10.38}, {'connected_gene': 'ENSG00000260274', 'score': 10.25}, {'connected_gene': 'UBE2Q2', 'score': 9.79}, {'connected_gene': 'GC15P074895', 'score': 0.77}]
chr15 GH15I075817 75817001 75817600 0.46 [{'connected_gene': 'FBXO22', 'score': 9.44}, {'connected_gene': 'UBE2Q2', 'score': 5.66}, {'connected_gene': 'DNM1P49', 'score': 0.34}]
chr15 GH15I075801 75801801 75802523 1.06 [{'connected_gene': 'FBXO22', 'score': 9.42}, {'connected_gene': 'DNM1P49', 'score': 0.44}, {'connected_gene': 'UBE2Q2', 'score': 0.26}]
chr15 GH15I075890 75890573 75892874 0.8 [{'connected_gene': 'FBXO22', 'score': 28.5}, {'connected_gene': 'NRG4', 'score': 18.25}, {'connected_gene': 'MIR631', 'score': 8.34}, {'connected_gene': 'RN7SL510P', 'score': 0.77}, {'connected_gene': 'UBE2Q2', 'score': 0.25}]
chr15 GH15I075946 75946639 75948044 0.31 [{'connected_gene': 'FBXO22', 'score': 22.64}, {'connected_gene': 'TMEM266', 'score': 10.87}, {'connected_gene': 'NRG4', 'score': 10.87}, {'connected_gene': 'UBE2Q2', 'score': 6.2}, {'connected_gene': 'MIR631', 'score': 5.05}, {'connected_gene': 'ENSG00000260685', 'score': 0.77}, {'connected_gene': 'GC15M075933', 'score': 0.39}]
chr15 GH15I075901 75901235 75905001 2.12 [{'connected_gene': 'FBXO22', 'score': 588.12}, {'connected_gene': 'DNM1P35', 'score': 20.7}, {'connected_gene': 'NRG4', 'score': 18.26}, {'connected_gene': 'SIN3A', 'score': 17.35}, {'connected_gene': 'MAN2C1', 'score': 15.45}, {'connected_gene': 'ENSG00000260274', 'score': 14.27}, {'connected_gene': 'ENSG00000203392', 'score': 10.36}, {'connected_gene': 'UBE2Q2', 'score': 6.87}, {'connected_gene': 'RN7SL510P', 'score': 0.44}]
chr15 GH15I074841 74841366 74846351 2.26 [{'connected_gene': 'ULK3', 'score': 565.6}, {'connected_gene': 'SIN3A', 'score': 39.19}, {'connected_gene': 'RPP25', 'score': 30.79}, {'connected_gene': 'EDC3', 'score': 24.9}, {'connected_gene': 'ENSG00000260274', 'score': 24.07}, {'connected_gene': 'ENSG00000203392', 'score': 22.61}, {'connected_gene': 'MPI', 'score': 15.75}, {'connected_gene': 'SCAMP2', 'score': 15.56}, {'connected_gene': 'MAN2C1', 'score': 15.45}, {'connected_gene': 'SNX33', 'score': 14.25}, {'connected_gene': 'ISLR', 'score': 13.8}, {'connected_gene': 'SNUPN', 'score': 11.61}, {'connected_gene': 'FAM219B', 'score': 11.13}, {'connected_gene': 'CLK3', 'score': 11.02}, {'connected_gene': 'PTPN9', 'score': 10.45}, {'connected_gene': 'UBL7-AS1', 'score': 9.85}, {'connected_gene': 'UBE2Q2', 'score': 9.79}, {'connected_gene': 'DNM1P34', 'score': 9.75}]
chr15 GH15I075830 75830816 75832589 0.9 [{'connected_gene': 'SIN3A', 'score': 19.85}, {'connected_gene': 'ENSG00000260274', 'score': 14.62}, {'connected_gene': 'MAN2C1', 'score': 14.51}, {'connected_gene': 'COMMD4', 'score': 11.43}, {'connected_gene': 'FBXO22', 'score': 10.56}, {'connected_gene': 'MIR631', 'score': 7.99}, {'connected_gene': 'UBE2Q2', 'score': 5.18}, {'connected_gene': 'DNM1P49', 'score': 0.28}]
chr15 GH15I075823 75822924 75824615 0.66 [{'connected_gene': 'SIN3A', 'score': 21.0}, {'connected_gene': 'SNX33', 'score': 12.51}, {'connected_gene': 'ENSG00000203392', 'score': 12.21}, {'connected_gene': 'MAN2C1', 'score': 10.72}, {'connected_gene': 'ENSG00000260274', 'score': 10.44}, {'connected_gene': 'DNM1P34', 'score': 10.16}, {'connected_gene': 'FBXO22', 'score': 9.95}, {'connected_gene': 'MIR631', 'score': 7.96}, {'connected_gene': 'UBE2Q2', 'score': 0.37}, {'connected_gene': 'DNM1P49', 'score': 0.29}]
chr15 GH15I075840 75840408 75841087 0.79 [{'connected_gene': 'NRG4', 'score': 7.07}, {'connected_gene': 'UBE2Q2', 'score': 0.77}, {'connected_gene': 'DNM1P49', 'score': 0.25}]
chr15 GH15I075816 75816220 75816369 0.38 [{'connected_gene': 'TMEM266', 'score': 9.7}, {'connected_gene': 'NRG4', 'score': 9.7}, {'connected_gene': 'DNM1P49', 'score': 0.34}, {'connected_gene': 'UBE2Q2', 'score': 0.31}]
chr15 GH15I076149 76149924 76152262 0.94 [{'connected_gene': 'TMEM266', 'score': 10.58}, {'connected_gene': 'NRG4', 'score': 10.58}, {'connected_gene': 'FBXO22', 'score': 5.96}, {'connected_gene': 'UBE2Q2', 'score': 4.28}, {'connected_gene': 'LOC101929439', 'score': 0.29}]
chr15 GH15I075022 75022940 75025318 2.3 [{'connected_gene': 'ENSG00000260483', 'score': 550.77}, {'connected_gene': 'PPCDC', 'score': 550.77}, {'connected_gene': 'SCAMP5', 'score': 52.13}, {'connected_gene': 'SIN3A', 'score': 26.53}, {'connected_gene': 'CLK3', 'score': 16.83}, {'connected_gene': 'MAN2C1', 'score': 15.03}, {'connected_gene': 'ENSG00000260274', 'score': 14.62}, {'connected_gene': 'SNX33', 'score': 14.25}, {'connected_gene': 'ENSG00000203392', 'score': 14.08}, {'connected_gene': 'ISLR', 'score': 13.8}, {'connected_gene': 'LOC101929333', 'score': 11.21}, {'connected_gene': 'PTPN9', 'score': 10.45}, {'connected_gene': 'EDC3', 'score': 9.97}, {'connected_gene': 'UBE2Q2', 'score': 9.79}, {'connected_gene': 'GC15P075113', 'score': 0.17}, {'connected_gene': 'GC15M075020', 'score': 0.13}]
chr15 GH15I075574 75574672 75575013 0.25 [{'connected_gene': 'ENSG00000260274', 'score': 14.56}, {'connected_gene': 'MAN2C1', 'score': 2.69}, {'connected_gene': 'ODF3L1', 'score': 2.08}, {'connected_gene': 'C15orf39', 'score': 2.06}, {'connected_gene': 'UBE2Q2', 'score': 1.63}, {'connected_gene': 'SIN3A', 'score': 1.23}, {'connected_gene': 'PTPN9', 'score': 0.77}, {'connected_gene': 'ENSG00000260269', 'score': 0.31}, {'connected_gene': 'ENSG00000259931', 'score': 0.21}]

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