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
ENST00000342711 [[64590858, 64592001], [64593941, 64594027], [64594142, 64594266], [64594521, 64594639], [64594749, 64594870], [64594998, 64595083], [64595157, 64595255], [64596942, 64597542], [64597665, 64597728], [64598976, 64599193], [64599899, 64599981], [64600075, 64600215], [64600297, 64600431], [64600702, 64600808], [64601071, 64601131], [64601209, 64601308], [64601396, 64601449], [64601737, 64601826], [64601900, 64602049], [64602320, 64602435], [64602518, 64602625], [64602818, 64602891], [64602971, 64603093], [64603233, 64603323], [64603588, 64603768], [64603898, 64604002], [64604210, 64604291], [64604393, 64604491], [64605554, 64605634], [64606125, 64606374], [64606504, 64606705], [64606949, 64607043], [64607591, 64607740], [64608024, 64608120], [64609121, 64609205], [64609284, 64609376], [64611881, 64612041]] [[64591944, 64592001], [64593941, 64594027], [64594142, 64594266], [64594521, 64594639], [64594749, 64594870], [64594998, 64595083], [64595157, 64595255], [64596942, 64597542], [64597665, 64597728], [64598976, 64599193], [64599899, 64599981], [64600075, 64600215], [64600297, 64600431], [64600702, 64600808], [64601071, 64601131], [64601209, 64601308], [64601396, 64601449], [64601737, 64601826], [64601900, 64602049], [64602320, 64602435], [64602518, 64602625], [64602818, 64602891], [64602971, 64603093], [64603233, 64603323], [64603588, 64603768], [64603898, 64604002], [64604210, 64604291], [64604393, 64604491], [64605554, 64605634], [64606125, 64606374], [64606504, 64606705], [64606949, 64607043], [64607591, 64607740], [64608024, 64608120], [64609121, 64609205], [64609284, 64609376], [64611881, 64612041]]
ENST00000491280 [[64597863, 64597930], [64598976, 64599193], [64599899, 64599954]] None
ENST00000468512 [[64600391, 64600431], [64600662, 64600808], [64601071, 64601131], [64601209, 64601257]] None
ENST00000480767 [[64600751, 64601131], [64601209, 64601283]] None
NM_017525 [[64591660, 64592001], [64593941, 64594027], [64594142, 64594266], [64594521, 64594639], [64594749, 64594870], [64594998, 64595083], [64595157, 64595255], [64596942, 64597542], [64597665, 64597728], [64598976, 64599193], [64599899, 64599981], [64600075, 64600215], [64600297, 64600431], [64600702, 64600808], [64601071, 64601131], [64601209, 64601308], [64601396, 64601449], [64601737, 64601826], [64601900, 64602049], [64602320, 64602435], [64602518, 64602625], [64602818, 64602891], [64602971, 64603093], [64603233, 64603323], [64603588, 64603768], [64603898, 64604002], [64604210, 64604291], [64604393, 64604491], [64605554, 64605634], [64606125, 64606374], [64606504, 64606705], [64606949, 64607043], [64607591, 64607740], [64608024, 64608120], [64609121, 64609205], [64609284, 64609376], [64611881, 64612041]] [[64591944, 64592001], [64593941, 64594027], [64594142, 64594266], [64594521, 64594639], [64594749, 64594870], [64594998, 64595083], [64595157, 64595255], [64596942, 64597542], [64597665, 64597728], [64598976, 64599193], [64599899, 64599981], [64600075, 64600215], [64600297, 64600431], [64600702, 64600808], [64601071, 64601131], [64601209, 64601308], [64601396, 64601449], [64601737, 64601826], [64601900, 64602049], [64602320, 64602435], [64602518, 64602625], [64602818, 64602891], [64602971, 64603093], [64603233, 64603323], [64603588, 64603768], [64603898, 64604002], [64604210, 64604291], [64604393, 64604491], [64605554, 64605634], [64606125, 64606374], [64606504, 64606705], [64606949, 64607043], [64607591, 64607740], [64608024, 64608120], [64609121, 64609205], [64609284, 64609376], [64611881, 64612041]]
Promoter
Chrom Start End Description
chr11 64612091 64612116 CAGE_peak_3_at_CDC42BPG_5end
chr11 64612118 64612152 CAGE_peak_1_at_CDC42BPG_5end
chr11 64612199 64612220 CAGE_peak_2_at_CDC42BPG_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I064354 64354689 64361259 2.72 [{'connected_gene': 'RPS6KA4', 'score': 559.68}, {'connected_gene': 'LOC102723878', 'score': 20.26}, {'connected_gene': 'PLCB3', 'score': 13.55}, {'connected_gene': 'ENSG00000231680', 'score': 6.78}, {'connected_gene': 'TRPT1', 'score': 4.82}, {'connected_gene': 'MARK2', 'score': 4.13}, {'connected_gene': 'PPP1R14B', 'score': 3.69}, {'connected_gene': 'ESRRA', 'score': 3.36}, {'connected_gene': 'PRDX5', 'score': 2.81}, {'connected_gene': 'TRMT112', 'score': 2.76}, {'connected_gene': 'BAD', 'score': 2.56}, {'connected_gene': 'NUDT22', 'score': 2.25}, {'connected_gene': 'CDC42BPG', 'score': 1.9}, {'connected_gene': 'FKBP2', 'score': 1.29}, {'connected_gene': 'GC11M064349', 'score': 0.77}, {'connected_gene': 'CCDC88B', 'score': 0.37}]
chr11 GH11I064841 64841546 64845844 2.26 [{'connected_gene': 'CDC42BPG', 'score': 554.87}, {'connected_gene': 'SF1', 'score': 31.79}, {'connected_gene': 'POLA2', 'score': 26.52}, {'connected_gene': 'ZFPL1', 'score': 24.35}, {'connected_gene': 'PLCB3', 'score': 20.51}, {'connected_gene': 'PCNX3', 'score': 19.19}, {'connected_gene': 'ENSG00000257086', 'score': 14.05}, {'connected_gene': 'KAT5', 'score': 12.57}, {'connected_gene': 'EHD1', 'score': 12.53}, {'connected_gene': 'MEN1', 'score': 12.02}, {'connected_gene': 'MAP4K2', 'score': 11.99}, {'connected_gene': 'SCYL1', 'score': 11.04}, {'connected_gene': 'RELA', 'score': 10.56}, {'connected_gene': 'NAALADL1', 'score': 10.41}, {'connected_gene': 'SSSCA1', 'score': 10.26}, {'connected_gene': 'FRMD8', 'score': 10.13}, {'connected_gene': 'ATG2A', 'score': 9.86}]
chr11 GH11I064836 64836727 64837565 0.43 [{'connected_gene': 'CDC42BPG', 'score': 0.44}, {'connected_gene': 'MEN1', 'score': 0.31}]
chr11 GH11I064835 64835299 64835701 0.8 [{'connected_gene': 'CDC42BPG', 'score': 7.08}, {'connected_gene': 'NEAT1', 'score': 4.47}, {'connected_gene': 'MEN1', 'score': 0.34}]
chr11 GH11I064793 64793151 64794940 0.31 [{'connected_gene': 'CDC42BPG', 'score': 12.13}, {'connected_gene': 'EHD1', 'score': 11.11}, {'connected_gene': 'MEN1', 'score': 6.77}, {'connected_gene': 'GC11P064802', 'score': 0.44}, {'connected_gene': 'GC11M064785', 'score': 0.44}, {'connected_gene': 'MAP4K2', 'score': 0.44}]
chr11 GH11I064814 64814749 64814898 0.67 [{'connected_gene': 'MEN1', 'score': 0.77}, {'connected_gene': 'CDC42BPG', 'score': 0.31}]
chr11 GH11I065065 65065979 65068270 0.87 [{'connected_gene': 'SNX15', 'score': 28.3}, {'connected_gene': 'ARL2', 'score': 11.84}, {'connected_gene': 'VPS51', 'score': 11.57}, {'connected_gene': 'ENSG00000254501', 'score': 11.49}, {'connected_gene': 'TM7SF2', 'score': 11.49}, {'connected_gene': 'CDC42BPG', 'score': 10.68}, {'connected_gene': 'MAJIN', 'score': 10.25}, {'connected_gene': 'EHD1', 'score': 9.55}, {'connected_gene': 'MEN1', 'score': 4.79}, {'connected_gene': 'LOC728975', 'score': 4.57}, {'connected_gene': 'GC11M065053', 'score': 0.44}, {'connected_gene': 'PIR38481', 'score': 0.39}, {'connected_gene': 'GC11M065079', 'score': 0.39}, {'connected_gene': 'CDCA5', 'score': 0.37}]
chr11 GH11I065069 65069181 65069952 0.74 [{'connected_gene': 'SNX15', 'score': 21.73}, {'connected_gene': 'ARL2', 'score': 11.83}, {'connected_gene': 'ENSG00000254501', 'score': 11.49}, {'connected_gene': 'TM7SF2', 'score': 11.49}, {'connected_gene': 'CDC42BPG', 'score': 10.68}, {'connected_gene': 'MAJIN', 'score': 10.25}, {'connected_gene': 'EHD1', 'score': 9.55}, {'connected_gene': 'PIR38481', 'score': 0.44}, {'connected_gene': 'GC11M065079', 'score': 0.44}, {'connected_gene': 'GC11M065053', 'score': 0.44}, {'connected_gene': 'CDCA5', 'score': 0.39}]
chr11 GH11I065402 65402884 65405178 1.15 [{'connected_gene': 'NEAT1', 'score': 40.29}, {'connected_gene': 'PYGM', 'score': 5.07}, {'connected_gene': 'CDC42BPG', 'score': 4.28}, {'connected_gene': 'GC11P065418', 'score': 0.39}, {'connected_gene': 'FRMD8', 'score': 0.37}]
chr11 GH11I064884 64884930 64886670 1.72 [{'connected_gene': 'ATG2A', 'score': 12.35}, {'connected_gene': 'EHD1', 'score': 12.23}, {'connected_gene': 'PCNX3', 'score': 11.94}, {'connected_gene': 'SF1', 'score': 7.22}, {'connected_gene': 'CDC42BPG', 'score': 6.82}, {'connected_gene': 'TIGD3', 'score': 3.73}, {'connected_gene': 'RASGRP2', 'score': 2.18}, {'connected_gene': 'MAP4K2', 'score': 1.64}, {'connected_gene': 'PYGM', 'score': 1.22}, {'connected_gene': 'RPS16P6', 'score': 0.77}]
chr11 GH11I064437 64437551 64437772 0.24 [{'connected_gene': 'SLC22A12', 'score': 11.64}, {'connected_gene': 'NRXN2', 'score': 11.6}, {'connected_gene': 'SLC22A11', 'score': 11.25}, {'connected_gene': 'MIR1237', 'score': 11.18}, {'connected_gene': 'RPS6KA4', 'score': 2.27}, {'connected_gene': 'CDC42BPG', 'score': 1.58}, {'connected_gene': 'GC11P064445', 'score': 0.44}, {'connected_gene': 'ENSG00000231492', 'score': 0.37}]
chr11 GH11I064874 64874247 64881311 2.28 [{'connected_gene': 'EHD1', 'score': 550.39}, {'connected_gene': 'ZFPL1', 'score': 14.57}, {'connected_gene': 'PCNX3', 'score': 13.0}, {'connected_gene': 'TRMT112', 'score': 12.21}, {'connected_gene': 'SF1', 'score': 12.04}, {'connected_gene': 'FRMD8', 'score': 11.0}, {'connected_gene': 'PLCB3', 'score': 10.83}, {'connected_gene': 'KAT5', 'score': 10.74}, {'connected_gene': 'FAU', 'score': 10.35}, {'connected_gene': 'POLA2', 'score': 10.34}, {'connected_gene': 'RELA', 'score': 9.96}, {'connected_gene': 'CDC42BPG', 'score': 6.61}, {'connected_gene': 'PPP1R14B', 'score': 4.87}, {'connected_gene': 'SNX15', 'score': 4.52}, {'connected_gene': 'RPS16P6', 'score': 0.77}]
chr11 GH11I064846 64846749 64867357 1.83 [{'connected_gene': 'EHD1', 'score': 55.42}, {'connected_gene': 'MAP4K2', 'score': 13.31}, {'connected_gene': 'MIR192', 'score': 12.44}, {'connected_gene': 'MEN1', 'score': 12.2}, {'connected_gene': 'MAJIN', 'score': 10.5}, {'connected_gene': 'GPHA2', 'score': 10.45}, {'connected_gene': 'MAP3K11', 'score': 9.76}, {'connected_gene': 'CDC42EP2', 'score': 7.62}, {'connected_gene': 'CDC42BPG', 'score': 6.02}, {'connected_gene': 'NEAT1', 'score': 5.49}, {'connected_gene': 'ARL2', 'score': 5.35}, {'connected_gene': 'SNX15', 'score': 4.42}, {'connected_gene': 'LOC101927789', 'score': 4.27}, {'connected_gene': 'ATG2A', 'score': 4.1}, {'connected_gene': 'SF1', 'score': 3.8}, {'connected_gene': 'RASGRP2', 'score': 2.39}, {'connected_gene': 'FAU', 'score': 2.14}, {'connected_gene': 'BATF2', 'score': 1.7}, {'connected_gene': 'TIGD3', 'score': 1.59}, {'connected_gene': 'RPS16P6', 'score': 0.34}]
chr11 GH11I064867 64867579 64873793 1.7 [{'connected_gene': 'EHD1', 'score': 31.48}, {'connected_gene': 'EEF1A1P18', 'score': 5.38}, {'connected_gene': 'CDC42EP2', 'score': 5.23}, {'connected_gene': 'ARL2', 'score': 4.67}, {'connected_gene': 'SNX15', 'score': 4.48}, {'connected_gene': 'FLRT1', 'score': 4.4}, {'connected_gene': 'NEAT1', 'score': 4.27}, {'connected_gene': 'LOC101927789', 'score': 4.27}, {'connected_gene': 'SF1', 'score': 2.54}, {'connected_gene': 'FAU', 'score': 1.84}, {'connected_gene': 'RASGRP2', 'score': 1.79}, {'connected_gene': 'ATG2A', 'score': 1.75}, {'connected_gene': 'RPS16P6', 'score': 0.39}, {'connected_gene': 'CDC42BPG', 'score': 0.31}]
chr11 GH11I064372 64372748 64374083 1.29 [{'connected_gene': 'LOC102723878', 'score': 21.83}, {'connected_gene': 'NRXN2', 'score': 5.48}, {'connected_gene': 'RCOR2', 'score': 4.55}, {'connected_gene': 'KCNK4', 'score': 3.49}, {'connected_gene': 'NAA40', 'score': 3.02}, {'connected_gene': 'GPR137', 'score': 1.93}, {'connected_gene': 'CDC42BPG', 'score': 1.61}, {'connected_gene': 'MIR1237', 'score': 0.77}, {'connected_gene': 'GC11M064381', 'score': 0.44}]
chr11 GH11I064742 64742029 64747507 2.22 [{'connected_gene': 'RASGRP2', 'score': 557.89}, {'connected_gene': 'PCNX3', 'score': 34.05}, {'connected_gene': 'POLA2', 'score': 26.48}, {'connected_gene': 'ZFPL1', 'score': 25.47}, {'connected_gene': 'ENSG00000257086', 'score': 24.55}, {'connected_gene': 'FRMD8', 'score': 18.98}, {'connected_gene': 'SF1', 'score': 17.73}, {'connected_gene': 'KAT5', 'score': 12.57}, {'connected_gene': 'PLCB3', 'score': 11.62}, {'connected_gene': 'SCYL1', 'score': 11.04}, {'connected_gene': 'SSSCA1', 'score': 10.26}, {'connected_gene': 'MEN1', 'score': 10.06}, {'connected_gene': 'ATG2A', 'score': 9.76}, {'connected_gene': 'CDC42BPG', 'score': 6.35}, {'connected_gene': 'PYGM', 'score': 0.37}, {'connected_gene': 'NRXN2', 'score': 0.34}]
chr11 GH11I064886 64886925 64895143 1.5 [{'connected_gene': 'GC11M064954', 'score': 550.77}, {'connected_gene': 'MIR192', 'score': 550.77}, {'connected_gene': 'GC11M064957', 'score': 550.77}, {'connected_gene': 'MIR194-2', 'score': 550.77}, {'connected_gene': 'MAJIN', 'score': 11.18}, {'connected_gene': 'EEF1A1P18', 'score': 5.83}, {'connected_gene': 'ARL2', 'score': 5.5}, {'connected_gene': 'CDC42BPG', 'score': 5.47}, {'connected_gene': 'SPDYC', 'score': 5.26}, {'connected_gene': 'PLCB3', 'score': 4.42}, {'connected_gene': 'NEAT1', 'score': 4.13}, {'connected_gene': 'LOC101927789', 'score': 3.82}, {'connected_gene': 'GC11P064900', 'score': 0.77}, {'connected_gene': 'MIR194-2HG', 'score': 0.77}, {'connected_gene': 'EHD1', 'score': 0.77}, {'connected_gene': 'GC11M064946', 'score': 0.77}, {'connected_gene': 'ATG2A', 'score': 0.31}]

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