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
ENST00000478749 [[12079522, 12079609], [12082151, 12082499], [12082889, 12082974], [12089089, 12089198], [12089279, 12089338], [12089821, 12089912]] None
ENST00000235332 [[12079522, 12079609], [12081701, 12081897], [12082151, 12082499], [12082889, 12082974], [12089089, 12089198], [12089279, 12089338], [12089821, 12089951], [12090084, 12090181], [12091322, 12091460], [12091778, 12092102]] [[12081783, 12081897], [12082151, 12082499], [12082889, 12082974], [12089089, 12089198], [12089279, 12089338], [12089821, 12089951], [12090084, 12090181], [12091322, 12091460], [12091778, 12091865]]
ENST00000436478 [[12079589, 12079609], [12081701, 12081897], [12082151, 12082499], [12082889, 12082974], [12089089, 12089198], [12089279, 12089338], [12089821, 12089951], [12091322, 12091460], [12091778, 12092095]] [[12081783, 12081897], [12082151, 12082499], [12082889, 12082974], [12089089, 12089198], [12089279, 12089338], [12089821, 12089951], [12091322, 12091460], [12091778, 12091872]]
ENST00000466860 [[12082278, 12082499], [12082889, 12082974], [12089089, 12089198], [12089279, 12090181], [12091322, 12091460], [12091778, 12092032]] None
ENST00000498685 [[12082920, 12082974], [12089089, 12089198], [12089279, 12089951], [12090084, 12090181], [12091322, 12091460], [12091778, 12092100]] None
ENST00000492256 [[12088777, 12089198], [12089279, 12089664]] None
ENST00000460823 [[12089152, 12089198], [12089279, 12089338], [12089821, 12089951], [12090084, 12090181], [12091322, 12091460], [12091597, 12092082]] None
ENST00000478299 [[12091183, 12091460], [12091778, 12092096]] None
NM_021933 [[12079298, 12079609], [12081701, 12081897], [12082151, 12082499], [12082889, 12082974], [12089089, 12089198], [12089279, 12089338], [12089821, 12089951], [12090084, 12090181], [12091322, 12091460], [12091778, 12092106]] [[12081783, 12081897], [12082151, 12082499], [12082889, 12082974], [12089089, 12089198], [12089279, 12089338], [12089821, 12089951], [12090084, 12090181], [12091322, 12091460], [12091778, 12091865]]
Promoter
Chrom Start End Description
chr1 12079492 12079501 CAGE_peak_2_at_MIIP_5end
chr1 12079517 12079595 CAGE_peak_1_at_MIIP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I012033 12031616 12033052 0.57 [{'connected_gene': 'MFN2', 'score': 12.3}, {'connected_gene': 'TNFRSF8', 'score': 11.99}, {'connected_gene': 'KIAA2013', 'score': 11.3}, {'connected_gene': 'PLOD1', 'score': 11.04}, {'connected_gene': 'RN7SL649P', 'score': 0.77}, {'connected_gene': 'MIR6729', 'score': 0.77}, {'connected_gene': 'MIIP', 'score': 0.39}]
chr1 GH01I011989 11989433 11991585 1.2 [{'connected_gene': 'MFN2', 'score': 72.86}, {'connected_gene': 'MIIP', 'score': 13.14}, {'connected_gene': 'PLOD1', 'score': 11.4}, {'connected_gene': 'KIAA2013', 'score': 11.29}, {'connected_gene': 'RNU5E-4P', 'score': 11.23}, {'connected_gene': 'RNU5E-1', 'score': 11.23}, {'connected_gene': 'NPPB', 'score': 3.73}, {'connected_gene': 'NPPA', 'score': 1.86}, {'connected_gene': 'ENSG00000270914', 'score': 0.31}]
chr1 GH01I011991 11991906 11993095 0.46 [{'connected_gene': 'MFN2', 'score': 69.4}, {'connected_gene': 'MIIP', 'score': 13.14}, {'connected_gene': 'PLOD1', 'score': 11.4}, {'connected_gene': 'KIAA2013', 'score': 11.29}, {'connected_gene': 'RNU5E-4P', 'score': 11.23}, {'connected_gene': 'RNU5E-1', 'score': 11.23}, {'connected_gene': 'ENSG00000270914', 'score': 0.34}]
chr1 GH01I011918 11918587 11919870 0.77 [{'connected_gene': 'MFN2', 'score': 18.28}, {'connected_gene': 'MIIP', 'score': 10.94}, {'connected_gene': 'NPPB', 'score': 10.82}, {'connected_gene': 'PLOD1', 'score': 5.66}, {'connected_gene': 'PIR39464', 'score': 0.44}, {'connected_gene': 'KIAA2013', 'score': 0.44}]
chr1 GH01I011978 11978437 11987026 2.78 [{'connected_gene': 'MFN2', 'score': 620.69}, {'connected_gene': 'ENSG00000226849', 'score': 21.95}, {'connected_gene': 'EXOSC10', 'score': 18.43}, {'connected_gene': 'MIIP', 'score': 18.04}, {'connected_gene': 'TNFRSF1B', 'score': 16.91}, {'connected_gene': 'PLOD1', 'score': 16.62}, {'connected_gene': 'CLCN6', 'score': 15.24}, {'connected_gene': 'TARDBP', 'score': 13.01}, {'connected_gene': 'KIAA2013', 'score': 11.56}, {'connected_gene': 'RNU5E-4P', 'score': 11.25}, {'connected_gene': 'RNU5E-1', 'score': 11.25}, {'connected_gene': 'NPPB', 'score': 10.29}, {'connected_gene': 'MTHFR', 'score': 7.41}, {'connected_gene': 'TNFRSF8', 'score': 6.4}, {'connected_gene': 'AGTRAP', 'score': 5.2}, {'connected_gene': 'FBXO6', 'score': 3.22}, {'connected_gene': 'ENSG00000270914', 'score': 0.29}]
chr1 GH01I012014 12014069 12015465 1.26 [{'connected_gene': 'MFN2', 'score': 41.45}, {'connected_gene': 'EXOSC10', 'score': 24.53}, {'connected_gene': 'MTOR', 'score': 19.76}, {'connected_gene': 'VPS13D', 'score': 12.53}, {'connected_gene': 'ENSG00000226849', 'score': 11.49}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'MIIP', 'score': 7.06}, {'connected_gene': 'KIAA2013', 'score': 5.85}, {'connected_gene': 'ENSG00000270914', 'score': 0.77}]
chr1 GH01I012032 12031504 12031533 0.59 [{'connected_gene': 'TNFRSF8', 'score': 11.85}, {'connected_gene': 'MFN2', 'score': 11.78}, {'connected_gene': 'KIAA2013', 'score': 11.3}, {'connected_gene': 'PLOD1', 'score': 10.81}, {'connected_gene': 'MIR6729', 'score': 0.77}, {'connected_gene': 'RN7SL649P', 'score': 0.44}, {'connected_gene': 'MIIP', 'score': 0.39}]
chr1 GH01I012031 12031384 12031493 0.62 [{'connected_gene': 'TNFRSF8', 'score': 11.85}, {'connected_gene': 'MFN2', 'score': 11.78}, {'connected_gene': 'KIAA2013', 'score': 11.3}, {'connected_gene': 'PLOD1', 'score': 10.81}, {'connected_gene': 'MIR6729', 'score': 0.77}, {'connected_gene': 'RN7SL649P', 'score': 0.44}, {'connected_gene': 'MIIP', 'score': 0.39}]
chr1 GH01I012066 12066856 12068982 1.39 [{'connected_gene': 'TNFRSF8', 'score': 12.83}, {'connected_gene': 'MIIP', 'score': 1.47}, {'connected_gene': 'GC01M012075', 'score': 0.44}, {'connected_gene': 'GC01P012045', 'score': 0.34}]
chr1 GH01I012063 12063192 12065061 2.02 [{'connected_gene': 'TNFRSF8', 'score': 577.74}, {'connected_gene': 'MIIP', 'score': 1.59}, {'connected_gene': 'GC01M012075', 'score': 0.39}, {'connected_gene': 'GC01P012045', 'score': 0.37}]
chr1 GH01I012067 12066027 12066372 0.89 [{'connected_gene': 'TNFRSF8', 'score': 28.57}, {'connected_gene': 'MIIP', 'score': 1.53}, {'connected_gene': 'GC01M012075', 'score': 0.44}, {'connected_gene': 'GC01P012045', 'score': 0.34}]
chr1 GH01I012051 12051760 12053724 1.63 [{'connected_gene': 'TNFRSF8', 'score': 12.22}, {'connected_gene': 'MIIP', 'score': 2.67}, {'connected_gene': 'GC01P012045', 'score': 0.44}]
chr1 GH01I012054 12054328 12054515 0.85 [{'connected_gene': 'TNFRSF8', 'score': 32.58}, {'connected_gene': 'RNU6-777P', 'score': 11.68}, {'connected_gene': 'RPL23AP89', 'score': 11.66}, {'connected_gene': 'MFN2', 'score': 10.9}, {'connected_gene': 'MIIP', 'score': 1.57}, {'connected_gene': 'GC01P012045', 'score': 0.44}]
chr1 GH01I012166 12166617 12182213 2.58 [{'connected_gene': 'TNFRSF1B', 'score': 571.23}, {'connected_gene': 'MTHFR', 'score': 22.31}, {'connected_gene': 'TNFRSF8', 'score': 16.19}, {'connected_gene': 'CLCN6', 'score': 14.8}, {'connected_gene': 'VPS13D', 'score': 14.44}, {'connected_gene': 'AGTRAP', 'score': 6.79}, {'connected_gene': 'MIIP', 'score': 1.65}, {'connected_gene': 'MFN2', 'score': 1.31}, {'connected_gene': 'MIR7846', 'score': 0.44}, {'connected_gene': 'MIR4632', 'score': 0.37}]
chr1 GH01I012018 12018670 12021069 2.04 [{'connected_gene': 'MIIP', 'score': 550.77}, {'connected_gene': 'UBIAD1', 'score': 27.44}, {'connected_gene': 'TNFRSF8', 'score': 12.1}, {'connected_gene': 'RNU6-777P', 'score': 11.37}, {'connected_gene': 'RPL23AP89', 'score': 11.36}, {'connected_gene': 'PLOD1', 'score': 10.86}, {'connected_gene': 'KIAA2013', 'score': 10.68}, {'connected_gene': 'LINC01647', 'score': 6.21}, {'connected_gene': 'NPPA-AS1', 'score': 5.03}, {'connected_gene': 'ENSG00000202461', 'score': 0.77}]
chr1 GH01I012087 12087385 12089954 1.16 [{'connected_gene': 'EXOSC10', 'score': 37.27}, {'connected_gene': 'CLCN6', 'score': 20.75}, {'connected_gene': 'MIIP', 'score': 11.55}, {'connected_gene': 'MFN2', 'score': 11.49}, {'connected_gene': 'RPL23AP89', 'score': 0.44}, {'connected_gene': 'TNFRSF8', 'score': 0.31}, {'connected_gene': 'GC01P012045', 'score': 0.26}, {'connected_gene': 'MIR7846', 'score': 0.18}]
chr1 GH01I011885 11885471 11889433 1.03 [{'connected_gene': 'PLOD1', 'score': 23.57}, {'connected_gene': 'MFN2', 'score': 21.79}, {'connected_gene': 'MIIP', 'score': 15.8}, {'connected_gene': 'NPPB', 'score': 12.05}, {'connected_gene': 'KIAA2013', 'score': 12.0}, {'connected_gene': 'NPPA-AS1', 'score': 9.46}, {'connected_gene': 'LOC390997', 'score': 0.44}, {'connected_gene': 'RNU5E-1', 'score': 0.34}]
chr1 GH01I011933 11933468 11935601 2.22 [{'connected_gene': 'PLOD1', 'score': 550.77}, {'connected_gene': 'ENSG00000226849', 'score': 13.84}, {'connected_gene': 'TARDBP', 'score': 13.02}, {'connected_gene': 'MFN2', 'score': 11.23}, {'connected_gene': 'MIIP', 'score': 6.51}, {'connected_gene': 'MTHFR', 'score': 4.29}]
chr1 GH01I011846 11846819 11848609 1.13 [{'connected_gene': 'NPPA', 'score': 550.77}, {'connected_gene': 'ENSG00000275915', 'score': 550.77}, {'connected_gene': 'NPPA-AS1', 'score': 23.44}, {'connected_gene': 'CLCN6', 'score': 7.55}, {'connected_gene': 'MIIP', 'score': 4.56}]
chr1 GH01I011663 11663624 11665424 1.95 [{'connected_gene': 'FBXO6', 'score': 564.76}, {'connected_gene': 'FBXO44', 'score': 6.28}, {'connected_gene': 'MIIP', 'score': 4.99}, {'connected_gene': 'PIR43631', 'score': 0.39}]
chr1 GH01I011800 11800062 11808394 2.32 [{'connected_gene': 'CLCN6', 'score': 569.42}, {'connected_gene': 'MTHFR', 'score': 564.29}, {'connected_gene': 'ENSG00000226849', 'score': 20.66}, {'connected_gene': 'TARDBP', 'score': 19.36}, {'connected_gene': 'NPPA-AS1', 'score': 13.69}, {'connected_gene': 'EXOSC10', 'score': 11.55}, {'connected_gene': 'UBIAD1', 'score': 9.85}, {'connected_gene': 'TNFRSF8', 'score': 5.79}, {'connected_gene': 'MIIP', 'score': 4.39}, {'connected_gene': 'GC01M011785', 'score': 0.44}]
chr1 GH01I012081 12081098 12082190 1.09 [{'connected_gene': 'RPL23AP89', 'score': 550.77}, {'connected_gene': 'MIIP', 'score': 11.27}, {'connected_gene': 'MFN2', 'score': 11.21}, {'connected_gene': 'UBIAD1', 'score': 10.83}, {'connected_gene': 'NPPA-AS1', 'score': 5.27}, {'connected_gene': 'TNFRSF8', 'score': 0.37}, {'connected_gene': 'GC01P012045', 'score': 0.28}, {'connected_gene': 'MIR7846', 'score': 0.17}]
chr1 GH01I011907 11907231 11910363 2.15 [{'connected_gene': 'RNU5E-4P', 'score': 550.77}, {'connected_gene': 'RNU5E-1', 'score': 550.77}, {'connected_gene': 'TARDBP', 'score': 57.49}, {'connected_gene': 'UBIAD1', 'score': 53.62}, {'connected_gene': 'ENSG00000226849', 'score': 41.84}, {'connected_gene': 'CLCN6', 'score': 16.17}, {'connected_gene': 'VPS13D', 'score': 12.6}, {'connected_gene': 'SNORA59A', 'score': 12.39}, {'connected_gene': 'MFN2', 'score': 10.93}, {'connected_gene': 'EXOSC10', 'score': 10.87}, {'connected_gene': 'DHRS3', 'score': 10.44}, {'connected_gene': 'ENSG00000271895', 'score': 10.01}, {'connected_gene': 'NPPA-AS1', 'score': 9.43}, {'connected_gene': 'PLOD1', 'score': 8.05}, {'connected_gene': 'KIAA2013', 'score': 7.32}, {'connected_gene': 'MTHFR', 'score': 1.73}, {'connected_gene': 'MIIP', 'score': 1.3}]
chr1 GH01I011840 11840252 11844207 1.25 [{'connected_gene': 'NPPA-AS1', 'score': 594.37}, {'connected_gene': 'GC01P011841', 'score': 550.77}, {'connected_gene': 'ENSG00000276470', 'score': 550.77}, {'connected_gene': 'PIR58989', 'score': 550.77}, {'connected_gene': 'TARDBP', 'score': 19.36}, {'connected_gene': 'ENSG00000226849', 'score': 12.73}, {'connected_gene': 'EXOSC10', 'score': 11.55}, {'connected_gene': 'MTHFR', 'score': 10.72}, {'connected_gene': 'CLCN6', 'score': 8.44}, {'connected_gene': 'MIIP', 'score': 4.34}]

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