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
ENST00000354655 [[114133775, 114134027], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114188134]] [[114154704, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114187116]]
ENST00000479936 [[114134992, 114135300], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279]] None
ENST00000393081 [[114135022, 114135300], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114188137]] [[114154704, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114187116]]
ENST00000433418 [[114135955, 114136206], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186975, 114188137]] [[114154704, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186975, 114187116]]
ENST00000356116 [[114135955, 114136206], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114188137]] [[114136067, 114136206], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114187116]]
ENST00000354273 [[114135956, 114136206], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114188138]] [[114154704, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114187116]]
ENST00000495539 [[114169290, 114169443], [114170220, 114170253], [114170341, 114170393], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181384]] None
ENST00000369410 [[114169304, 114169443], [114170015, 114170097], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114187137]] [[114170040, 114170097], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114187116]]
ENST00000467340 [[114171140, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177696]] None
ENST00000496328 [[114181738, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186366]] None
NM_203379 [[114133915, 114134027], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114188138]] [[114154704, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114187116]]
NM_203380 [[114135022, 114135300], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114188138]] [[114154704, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114187116]]
NM_016234 [[114135955, 114136206], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114188138]] [[114136067, 114136206], [114154675, 114154860], [114158658, 114158767], [114164268, 114164333], [114164462, 114164564], [114168179, 114168279], [114169264, 114169443], [114170220, 114170253], [114170341, 114170393], [114171213, 114171287], [114171659, 114171737], [114172930, 114173065], [114176645, 114176780], [114177603, 114177699], [114181350, 114181423], [114181704, 114181793], [114182082, 114182199], [114185095, 114185239], [114186015, 114186117], [114186545, 114186617], [114186975, 114187116]]
Promoter
Chrom Start End Description
chr10 114133773 114133784 CAGE_peak_9_at_ACSL5_5end
chr10 114133868 114133893 CAGE_peak_3_at_ACSL5_5end
chr10 114133905 114133922 CAGE_peak_2_at_ACSL5_5end
chr10 114133934 114133945 CAGE_peak_8_at_ACSL5_5end
chr10 114133946 114133953 CAGE_peak_11_at_ACSL5_5end
chr10 114134846 114134867 CAGE_peak_10_at_ACSL5_5end
chr10 114134954 114135003 CAGE_peak_5_at_ACSL5_5end
chr10 114135004 114135033 CAGE_peak_6_at_ACSL5_5end
chr10 114135045 114135058 CAGE_peak_12_at_ACSL5_5end
chr10 114135060 114135085 CAGE_peak_14_at_ACSL5_5end
chr10 114135111 114135120 CAGE_peak_25_at_ACSL5_5end
chr10 114135571 114135585 CAGE_peak_15_at_ACSL5_5end
chr10 114135850 114135859 CAGE_peak_21_at_ACSL5_5end
chr10 114135865 114135874 CAGE_peak_16_at_ACSL5_5end
chr10 114135952 114136022 CAGE_peak_1_at_ACSL5_5end
chr10 114136035 114136051 CAGE_peak_4_at_ACSL5_5end
chr10 114136055 114136067 CAGE_peak_13_at_ACSL5_5end
chr10 114154468 114154485 CAGE_peak_17_at_ACSL5_5end
chr10 114154517 114154559 CAGE_peak_7_at_ACSL5_5end
chr10 114154671 114154685 CAGE_peak_19_at_ACSL5_5end
chr10 114154704 114154719 CAGE_peak_32_at_ACSL5_5end
chr10 114169287 114169290 CAGE_peak_37_at_ACSL5_5end
chr10 114169299 114169310 CAGE_peak_29_at_ACSL5_5end
chr10 114169320 114169329 CAGE_peak_33_at_ACSL5_5end
chr10 114169348 114169360 CAGE_peak_22_at_ACSL5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I112445 112445787 112448298 2.27 [{'connected_gene': 'ZDHHC6', 'score': 583.62}, {'connected_gene': 'VTI1A', 'score': 563.15}, {'connected_gene': 'ACSL5', 'score': 18.13}, {'connected_gene': 'LOC105378488', 'score': 10.72}, {'connected_gene': 'TCF7L2', 'score': 9.86}, {'connected_gene': 'GC10M112255', 'score': 0.1}]
chr10 GH10I112330 112330269 112337359 1.24 [{'connected_gene': 'ACSL5', 'score': 22.95}, {'connected_gene': 'TECTB', 'score': 10.8}, {'connected_gene': 'ZDHHC6', 'score': 5.02}, {'connected_gene': 'PIR60176', 'score': 0.37}, {'connected_gene': 'GUCY2GP', 'score': 0.34}, {'connected_gene': 'MIR6715B', 'score': 0.29}, {'connected_gene': 'GC10M112255', 'score': 0.06}]
chr10 GH10I112338 112338285 112339884 0.4 [{'connected_gene': 'ACSL5', 'score': 28.05}, {'connected_gene': 'TECTB', 'score': 10.39}, {'connected_gene': 'PIR60176', 'score': 0.39}, {'connected_gene': 'GUCY2GP', 'score': 0.37}, {'connected_gene': 'MIR6715B', 'score': 0.28}, {'connected_gene': 'GC10M112255', 'score': 0.06}]
chr10 GH10I112307 112307562 112308612 0.94 [{'connected_gene': 'ACSL5', 'score': 18.32}, {'connected_gene': 'TECTB', 'score': 11.74}, {'connected_gene': 'MIR6715B', 'score': 0.44}, {'connected_gene': 'PIR60176', 'score': 0.26}, {'connected_gene': 'GUCY2GP', 'score': 0.25}, {'connected_gene': 'GC10M112255', 'score': 0.06}]
chr10 GH10I112359 112359715 112367251 1.27 [{'connected_gene': 'ACSL5', 'score': 24.88}, {'connected_gene': 'ZDHHC6', 'score': 7.09}, {'connected_gene': 'GUCY2GP', 'score': 0.44}, {'connected_gene': 'GC10M112255', 'score': 0.07}]
chr10 GH10I112460 112460362 112462157 0.89 [{'connected_gene': 'ACSL5', 'score': 10.66}, {'connected_gene': 'ZDHHC6', 'score': 0.39}, {'connected_gene': 'VTI1A', 'score': 0.39}, {'connected_gene': 'GC10P112522', 'score': 0.21}, {'connected_gene': 'GC10M112255', 'score': 0.11}]
chr10 GH10I112478 112478630 112480044 0.2 [{'connected_gene': 'ACSL5', 'score': 9.99}, {'connected_gene': 'ZDHHC6', 'score': 0.29}, {'connected_gene': 'VTI1A', 'score': 0.29}, {'connected_gene': 'GC10P112522', 'score': 0.26}, {'connected_gene': 'GC10M112255', 'score': 0.13}]
chr10 GH10I112381 112381827 112392117 2.26 [{'connected_gene': 'ACSL5', 'score': 615.16}, {'connected_gene': 'ZDHHC6', 'score': 7.05}, {'connected_gene': 'VTI1A', 'score': 3.22}, {'connected_gene': 'ENSG00000232934', 'score': 0.28}, {'connected_gene': 'GC10M112255', 'score': 0.08}]
chr10 GH10I112480 112480126 112481183 0.2 [{'connected_gene': 'ACSL5', 'score': 9.99}, {'connected_gene': 'ZDHHC6', 'score': 0.29}, {'connected_gene': 'VTI1A', 'score': 0.29}, {'connected_gene': 'GC10P112522', 'score': 0.26}, {'connected_gene': 'GC10M112255', 'score': 0.13}]
chr10 GH10I112372 112372297 112381554 2.44 [{'connected_gene': 'ACSL5', 'score': 610.36}, {'connected_gene': 'ZDHHC6', 'score': 7.96}, {'connected_gene': 'VTI1A', 'score': 2.84}, {'connected_gene': 'ENSG00000232934', 'score': 0.25}, {'connected_gene': 'GC10M112255', 'score': 0.07}]
chr10 GH10I112427 112427564 112431419 0.4 [{'connected_gene': 'ACSL5', 'score': 21.37}, {'connected_gene': 'ZDHHC6', 'score': 14.48}, {'connected_gene': 'ENSG00000232934', 'score': 0.77}, {'connected_gene': 'VTI1A', 'score': 0.37}, {'connected_gene': 'GC10M112255', 'score': 0.1}]
chr10 GH10I112407 112407411 112410264 0.51 [{'connected_gene': 'ACSL5', 'score': 22.35}, {'connected_gene': 'ZDHHC6', 'score': 15.39}, {'connected_gene': 'ENSG00000232934', 'score': 7.39}, {'connected_gene': 'GC10M112255', 'score': 0.08}]
chr10 GH10I112401 112401350 112401803 0.38 [{'connected_gene': 'ACSL5', 'score': 48.65}, {'connected_gene': 'ZDHHC6', 'score': 13.47}, {'connected_gene': 'ENSG00000232934', 'score': 0.34}, {'connected_gene': 'GC10M112255', 'score': 0.08}]
chr10 GH10I112402 112402573 112407236 0.69 [{'connected_gene': 'ACSL5', 'score': 37.41}, {'connected_gene': 'ZDHHC6', 'score': 14.61}, {'connected_gene': 'ENSG00000232934', 'score': 7.36}, {'connected_gene': 'GC10M112255', 'score': 0.08}]
chr10 GH10I112368 112368924 112369954 0.31 [{'connected_gene': 'ACSL5', 'score': 20.09}, {'connected_gene': 'GUCY2GP', 'score': 0.39}, {'connected_gene': 'GC10M112255', 'score': 0.07}]
chr10 GH10I112358 112358832 112359312 0.2 [{'connected_gene': 'ACSL5', 'score': 16.85}, {'connected_gene': 'GUCY2GP', 'score': 0.77}, {'connected_gene': 'GC10M112255', 'score': 0.07}]
chr10 GH10I112663 112663357 112663801 0.61 [{'connected_gene': 'ACSL5', 'score': 5.47}, {'connected_gene': 'VTI1A', 'score': 2.31}, {'connected_gene': 'TCF7L2', 'score': 2.21}, {'connected_gene': 'ENSG00000233340', 'score': 0.39}, {'connected_gene': 'MIR4295', 'score': 0.31}]
chr10 GH10I112392 112392841 112396462 1.1 [{'connected_gene': 'ACSL5', 'score': 49.34}, {'connected_gene': 'ENSG00000232934', 'score': 7.28}, {'connected_gene': 'GC10M112255', 'score': 0.08}]
chr10 GH10I112350 112350163 112350375 0.27 [{'connected_gene': 'PIR60176', 'score': 550.77}, {'connected_gene': 'ACSL5', 'score': 12.03}, {'connected_gene': 'ZDHHC6', 'score': 7.03}, {'connected_gene': 'GUCY2GP', 'score': 0.44}, {'connected_gene': 'MIR6715B', 'score': 0.23}, {'connected_gene': 'GC10M112255', 'score': 0.07}]
chr10 GH10I112423 112423526 112425587 0.58 [{'connected_gene': 'ENSG00000232934', 'score': 550.77}, {'connected_gene': 'ACSL5', 'score': 8.21}, {'connected_gene': 'ZDHHC6', 'score': 0.34}, {'connected_gene': 'GC10M112255', 'score': 0.09}]
chr10 GH10I112349 112349363 112349431 0.33 [{'connected_gene': 'PIR60176', 'score': 550.77}, {'connected_gene': 'ACSL5', 'score': 12.03}, {'connected_gene': 'GUCY2GP', 'score': 0.44}, {'connected_gene': 'MIR6715B', 'score': 0.25}, {'connected_gene': 'GC10M112255', 'score': 0.07}]
chr10 GH10I113125 113125393 113134439 2.4 [{'connected_gene': 'ENSG00000233340', 'score': 10.41}, {'connected_gene': 'RNU7-165P', 'score': 9.62}, {'connected_gene': 'ACSL5', 'score': 4.66}, {'connected_gene': 'TCF7L2', 'score': 2.67}, {'connected_gene': 'LOC105378489', 'score': 0.15}, {'connected_gene': 'RPS15AP30', 'score': 0.11}]

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