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
ENST00000429054 [[18368778, 18369049], [18457385, 18457590], [18459837, 18459982], [18463521, 18463611], [18465157, 18465445]] [[18368985, 18369049], [18457385, 18457590], [18459837, 18459982], [18463521, 18463611], [18465157, 18465298]]
ENST00000259939 [[18387580, 18387861], [18399729, 18399930], [18427811, 18427916], [18439914, 18439975], [18457385, 18457590], [18459837, 18459982], [18463521, 18463611], [18465157, 18469105]] [[18399765, 18399930], [18427811, 18427916], [18439914, 18439975], [18457385, 18457590], [18459837, 18459982], [18463521, 18463611], [18465157, 18465298]]
ENST00000486622 [[18387744, 18387861], [18399729, 18399930], [18402187, 18402326]] None
NM_182757 [[18387580, 18387861], [18399729, 18399930], [18427811, 18427916], [18439914, 18439975], [18457385, 18457590], [18459837, 18459982], [18463521, 18463611], [18465157, 18469105]] [[18399765, 18399930], [18427811, 18427916], [18439914, 18439975], [18457385, 18457590], [18459837, 18459982], [18463521, 18463611], [18465157, 18465298]]
Promoter
Chrom Start End Description
chr6 18387570 18387588 CAGE_peak_2_at_RNF144B_5end
chr6 18387686 18387739 CAGE_peak_1_at_RNF144B_5end
chr6 18467579 18467597 CAGE_peak_4_at_RNF144B_5end
chr6 18467649 18467652 CAGE_peak_3_at_RNF144B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I018259 18259670 18265857 2.52 [{'connected_gene': 'DEK', 'score': 575.62}, {'connected_gene': 'NUP153', 'score': 28.41}, {'connected_gene': 'LOC105374952', 'score': 25.45}, {'connected_gene': 'IMPDH1P9', 'score': 11.8}, {'connected_gene': 'RNF144B', 'score': 1.96}, {'connected_gene': 'GC06M018248', 'score': 0.34}, {'connected_gene': 'KDM1B', 'score': 0.14}]
chr6 GH06I018245 18245753 18247515 0.68 [{'connected_gene': 'DEK', 'score': 6.77}, {'connected_gene': 'RNF144B', 'score': 5.5}, {'connected_gene': 'KDM1B', 'score': 0.16}]
chr6 GH06I018412 18412600 18413200 0.4 [{'connected_gene': 'DEK', 'score': 4.44}, {'connected_gene': 'PIR42478', 'score': 0.44}, {'connected_gene': 'GC06P018451', 'score': 0.28}, {'connected_gene': 'RNF144B', 'score': 0.12}]
chr6 GH06I018313 18313855 18314663 0.2 [{'connected_gene': 'DEK', 'score': 5.68}, {'connected_gene': 'PIR61433', 'score': 0.44}, {'connected_gene': 'RNU6-263P', 'score': 0.44}, {'connected_gene': 'RNF144B', 'score': 0.28}]
chr6 GH06I018152 18152450 18156690 2.58 [{'connected_gene': 'TPMT', 'score': 570.69}, {'connected_gene': 'KDM1B', 'score': 552.37}, {'connected_gene': 'NHLRC1', 'score': 20.15}, {'connected_gene': 'RNF144B', 'score': 5.63}]
chr6 GH06I017927 17927633 17934799 1.83 [{'connected_gene': 'KIF13A', 'score': 19.25}, {'connected_gene': 'NHLRC1', 'score': 10.23}, {'connected_gene': 'LOC105374952', 'score': 5.33}, {'connected_gene': 'RNF144B', 'score': 2.73}, {'connected_gene': 'KDM1B', 'score': 2.59}, {'connected_gene': 'RPS12P12', 'score': 0.34}, {'connected_gene': 'GC06P017893', 'score': 0.28}]
chr6 GH06I017910 17910201 17910600 0.84 [{'connected_gene': 'KIF13A', 'score': 18.3}, {'connected_gene': 'RNF144B', 'score': 6.14}, {'connected_gene': 'GC06P017893', 'score': 0.37}, {'connected_gene': 'RPS12P12', 'score': 0.26}]
chr6 GH06I018325 18325733 18326793 0.2 [{'connected_gene': 'IMPDH1P9', 'score': 5.22}, {'connected_gene': 'PIR61433', 'score': 0.44}, {'connected_gene': 'GC06P018364', 'score': 0.28}, {'connected_gene': 'PIR39754', 'score': 0.28}, {'connected_gene': 'RNF144B', 'score': 0.25}]
chr6 GH06I018146 18146696 18149239 1.46 [{'connected_gene': 'NHLRC1', 'score': 19.85}, {'connected_gene': 'TPMT', 'score': 19.7}, {'connected_gene': 'KIF13A', 'score': 10.73}, {'connected_gene': 'RNF144B', 'score': 6.87}, {'connected_gene': 'KDM1B', 'score': 1.69}]
chr6 GH06I018327 18327150 18331432 1.4 [{'connected_gene': 'RNF144B', 'score': 13.71}, {'connected_gene': 'DEK', 'score': 7.6}, {'connected_gene': 'KDM1B', 'score': 4.62}, {'connected_gene': 'KIF13A', 'score': 1.68}, {'connected_gene': 'PIR61433', 'score': 0.44}, {'connected_gene': 'GC06P018364', 'score': 0.29}, {'connected_gene': 'PIR39754', 'score': 0.29}]
chr6 GH06I018378 18378898 18381403 0.38 [{'connected_gene': 'RNF144B', 'score': 19.16}, {'connected_gene': 'IMPDH1P9', 'score': 0.39}, {'connected_gene': 'PIR43810', 'score': 0.37}]
chr6 GH06I018394 18394812 18395924 0.83 [{'connected_gene': 'RNF144B', 'score': 18.74}, {'connected_gene': 'PIR43810', 'score': 0.77}, {'connected_gene': 'IMPDH1P9', 'score': 0.31}]
chr6 GH06I017992 17992618 17994527 1.46 [{'connected_gene': 'RNF144B', 'score': 5.47}, {'connected_gene': 'KDM1B', 'score': 1.43}, {'connected_gene': 'KIF13A', 'score': 0.44}, {'connected_gene': 'GC06P017969', 'score': 0.34}, {'connected_gene': 'GC06P018054', 'score': 0.21}]
chr6 GH06I018431 18431599 18435366 1.37 [{'connected_gene': 'RNF144B', 'score': 33.77}, {'connected_gene': 'KDM1B', 'score': 1.93}, {'connected_gene': 'KIF13A', 'score': 1.76}, {'connected_gene': 'GC06P018451', 'score': 0.37}, {'connected_gene': 'PIR42478', 'score': 0.31}]
chr6 GH06I018402 18402502 18402889 0.9 [{'connected_gene': 'RNF144B', 'score': 18.89}, {'connected_gene': 'KDM1B', 'score': 1.58}, {'connected_gene': 'PIR43810', 'score': 0.77}, {'connected_gene': 'PIR42478', 'score': 0.77}]
chr6 GH06I018413 18413293 18413803 0.51 [{'connected_gene': 'RNF144B', 'score': 16.94}, {'connected_gene': 'KDM1B', 'score': 1.3}, {'connected_gene': 'PIR42478', 'score': 0.44}, {'connected_gene': 'GC06P018451', 'score': 0.28}]
chr6 GH06I018436 18436394 18436662 0.47 [{'connected_gene': 'RNF144B', 'score': 11.2}, {'connected_gene': 'KDM1B', 'score': 2.38}, {'connected_gene': 'GC06P018451', 'score': 0.39}, {'connected_gene': 'PIR42478', 'score': 0.31}]
chr6 GH06I018386 18386027 18391484 2.47 [{'connected_gene': 'RNF144B', 'score': 579.98}, {'connected_gene': 'RNU6-263P', 'score': 10.28}, {'connected_gene': 'DEK', 'score': 6.36}, {'connected_gene': 'IMPDH1P9', 'score': 6.21}, {'connected_gene': 'KDM1B', 'score': 4.25}, {'connected_gene': 'KIF13A', 'score': 3.7}, {'connected_gene': 'PIR43810', 'score': 0.39}]
chr6 GH06I018340 18340511 18344684 1.32 [{'connected_gene': 'RNF144B', 'score': 17.31}, {'connected_gene': 'RNU6-263P', 'score': 10.83}, {'connected_gene': 'DEK', 'score': 8.11}, {'connected_gene': 'IMPDH1P9', 'score': 4.97}, {'connected_gene': 'PIR61433', 'score': 0.34}, {'connected_gene': 'GC06P018364', 'score': 0.34}, {'connected_gene': 'PIR39754', 'score': 0.34}]
chr6 GH06I018369 18369344 18372780 0.49 [{'connected_gene': 'RNF144B', 'score': 21.04}, {'connected_gene': 'RNU6-263P', 'score': 9.83}, {'connected_gene': 'DEK', 'score': 5.77}, {'connected_gene': 'IMPDH1P9', 'score': 0.77}, {'connected_gene': 'PIR43810', 'score': 0.31}]
chr6 GH06I018346 18346159 18348842 0.71 [{'connected_gene': 'RNF144B', 'score': 18.58}, {'connected_gene': 'RNU6-263P', 'score': 11.13}, {'connected_gene': 'DEK', 'score': 7.96}, {'connected_gene': 'GC06P018364', 'score': 0.37}, {'connected_gene': 'PIR39754', 'score': 0.37}, {'connected_gene': 'PIR61433', 'score': 0.31}]
chr6 GH06I018351 18351961 18353826 0.85 [{'connected_gene': 'RNF144B', 'score': 41.52}, {'connected_gene': 'RNU6-263P', 'score': 10.73}, {'connected_gene': 'DEK', 'score': 5.54}, {'connected_gene': 'GC06P018364', 'score': 0.39}, {'connected_gene': 'PIR39754', 'score': 0.39}, {'connected_gene': 'PIR61433', 'score': 0.29}]
chr6 GH06I018392 18392401 18392600 0.38 [{'connected_gene': 'RNF144B', 'score': 20.5}, {'connected_gene': 'RNU6-263P', 'score': 10.13}, {'connected_gene': 'PIR43810', 'score': 0.44}, {'connected_gene': 'IMPDH1P9', 'score': 0.34}]
chr6 GH06I018350 18350734 18351102 0.72 [{'connected_gene': 'RNF144B', 'score': 45.57}, {'connected_gene': 'RNU6-263P', 'score': 10.74}, {'connected_gene': 'KDM1B', 'score': 1.89}, {'connected_gene': 'GC06P018364', 'score': 0.39}, {'connected_gene': 'PIR39754', 'score': 0.39}, {'connected_gene': 'PIR61433', 'score': 0.29}]
chr6 GH06I018487 18487731 18489640 0.76 [{'connected_gene': 'RNF144B', 'score': 4.83}, {'connected_gene': 'LOC105374955', 'score': 0.44}, {'connected_gene': 'PIR57948', 'score': 0.34}]
chr6 GH06I018443 18443591 18448307 0.46 [{'connected_gene': 'RNF144B', 'score': 9.19}, {'connected_gene': 'GC06P018451', 'score': 0.77}, {'connected_gene': 'PIR42478', 'score': 0.28}]
chr6 GH06I018409 18409418 18411397 0.2 [{'connected_gene': 'RNF144B', 'score': 5.27}, {'connected_gene': 'PIR42478', 'score': 0.77}, {'connected_gene': 'GC06P018451', 'score': 0.26}]
chr6 GH06I018424 18424815 18426091 0.54 [{'connected_gene': 'RNF144B', 'score': 6.78}, {'connected_gene': 'PIR42478', 'score': 0.37}, {'connected_gene': 'GC06P018451', 'score': 0.31}]
chr6 GH06I018430 18430294 18430808 0.2 [{'connected_gene': 'RNF144B', 'score': 9.52}, {'connected_gene': 'GC06P018451', 'score': 0.34}, {'connected_gene': 'PIR42478', 'score': 0.34}]
chr6 GH06I018403 18403556 18404185 0.31 [{'connected_gene': 'RNF144B', 'score': 11.36}, {'connected_gene': 'PIR43810', 'score': 0.77}, {'connected_gene': 'PIR42478', 'score': 0.77}]
chr6 GH06I018428 18428588 18428983 0.2 [{'connected_gene': 'RNF144B', 'score': 9.34}, {'connected_gene': 'GC06P018451', 'score': 0.34}, {'connected_gene': 'PIR42478', 'score': 0.34}]
chr6 GH06I018426 18426477 18428113 0.43 [{'connected_gene': 'RNF144B', 'score': 9.51}, {'connected_gene': 'GC06P018451', 'score': 0.34}, {'connected_gene': 'PIR42478', 'score': 0.34}]
chr6 GH06I018439 18439095 18441876 0.46 [{'connected_gene': 'RNF144B', 'score': 9.56}, {'connected_gene': 'GC06P018451', 'score': 0.39}, {'connected_gene': 'PIR42478', 'score': 0.29}]
chr6 GH06I018306 18306351 18309319 0.69 [{'connected_gene': 'RNU6-263P', 'score': 550.77}, {'connected_gene': 'GC06M018306', 'score': 550.77}, {'connected_gene': 'IMPDH1P9', 'score': 6.05}, {'connected_gene': 'DEK', 'score': 4.82}, {'connected_gene': 'PIR61433', 'score': 0.39}, {'connected_gene': 'RNF144B', 'score': 0.29}]
chr6 GH06I018415 18415058 18416922 0.46 [{'connected_gene': 'RNU6-263P', 'score': 10.24}, {'connected_gene': 'RNF144B', 'score': 9.37}, {'connected_gene': 'DEK', 'score': 5.03}, {'connected_gene': 'PIR42478', 'score': 0.44}, {'connected_gene': 'GC06P018451', 'score': 0.29}]
chr6 GH06I018381 18381525 18381963 0.43 [{'connected_gene': 'RNU6-263P', 'score': 10.29}, {'connected_gene': 'RNF144B', 'score': 7.5}, {'connected_gene': 'IMPDH1P9', 'score': 0.39}, {'connected_gene': 'PIR43810', 'score': 0.37}]
chr6 GH06I018503 18503202 18504739 1.27 [{'connected_gene': 'RNU6-263P', 'score': 11.25}, {'connected_gene': 'RNF144B', 'score': 4.15}, {'connected_gene': 'LOC105374955', 'score': 0.44}, {'connected_gene': 'MIR548A1HG', 'score': 0.37}]
chr6 GH06I018456 18456835 18459317 0.2 [{'connected_gene': 'RNU6-263P', 'score': 10.56}, {'connected_gene': 'RNF144B', 'score': 8.5}, {'connected_gene': 'PIR35625', 'score': 0.44}, {'connected_gene': 'GC06P018467', 'score': 0.44}, {'connected_gene': 'GC06P018451', 'score': 0.44}]
chr6 GH06I018352 18350201 18350601 0.66 [{'connected_gene': 'RNU6-263P', 'score': 11.13}, {'connected_gene': 'RNF144B', 'score': 7.36}, {'connected_gene': 'GC06P018364', 'score': 0.39}, {'connected_gene': 'PIR39754', 'score': 0.39}, {'connected_gene': 'PIR61433', 'score': 0.31}]
chr6 GH06I018461 18461228 18463803 0.31 [{'connected_gene': 'RNU6-263P', 'score': 10.68}, {'connected_gene': 'RNF144B', 'score': 8.8}, {'connected_gene': 'PIR35625', 'score': 0.77}, {'connected_gene': 'GC06P018467', 'score': 0.77}, {'connected_gene': 'GC06P018451', 'score': 0.39}]
chr6 GH06I018349 18349146 18349732 0.51 [{'connected_gene': 'RNU6-263P', 'score': 11.13}, {'connected_gene': 'GC06P018364', 'score': 0.39}, {'connected_gene': 'PIR39754', 'score': 0.39}, {'connected_gene': 'PIR61433', 'score': 0.31}, {'connected_gene': 'RNF144B', 'score': 0.19}]
chr6 GH06I018418 18418854 18421058 0.2 [{'connected_gene': 'RNU6-263P', 'score': 9.69}, {'connected_gene': 'PIR42478', 'score': 0.39}, {'connected_gene': 'GC06P018451', 'score': 0.29}, {'connected_gene': 'RNF144B', 'score': 0.11}]
chr6 GH06I018365 18365474 18365802 0.22 [{'connected_gene': 'PIR43604', 'score': 550.77}, {'connected_gene': 'GC06P018376', 'score': 550.77}, {'connected_gene': 'PIR44758', 'score': 550.77}, {'connected_gene': 'PIR41261', 'score': 550.77}, {'connected_gene': 'DDX18P3', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 13.45}]
chr6 GH06I018363 18363470 18364203 0.58 [{'connected_gene': 'GC06P018364', 'score': 550.77}, {'connected_gene': 'DDX18P3', 'score': 550.77}, {'connected_gene': 'PIR39754', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 7.8}]
chr6 GH06I018361 18361675 18363062 0.89 [{'connected_gene': 'GC06P018364', 'score': 550.77}, {'connected_gene': 'PIR39754', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 19.7}, {'connected_gene': 'DEK', 'score': 5.79}, {'connected_gene': 'FAM8A1', 'score': 5.14}, {'connected_gene': 'PIR61433', 'score': 0.26}]
chr6 GH06I018397 18397534 18398267 0.54 [{'connected_gene': 'PIR43810', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 11.77}, {'connected_gene': 'DEK', 'score': 4.93}, {'connected_gene': 'IMPDH1P9', 'score': 0.31}]
chr6 GH06I018400 18400285 18401999 1.45 [{'connected_gene': 'PIR43810', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 37.97}, {'connected_gene': 'KDM1B', 'score': 11.21}, {'connected_gene': 'DEK', 'score': 6.35}, {'connected_gene': 'KIF13A', 'score': 5.84}, {'connected_gene': 'PIR42478', 'score': 0.44}]
chr6 GH06I018404 18404909 18407294 1.6 [{'connected_gene': 'PIR42478', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 26.79}, {'connected_gene': 'KDM1B', 'score': 2.81}, {'connected_gene': 'KIF13A', 'score': 2.45}, {'connected_gene': 'PIR43810', 'score': 0.44}]
chr6 GH06I018408 18408458 18408925 0.2 [{'connected_gene': 'PIR42478', 'score': 550.77}, {'connected_gene': 'GC06P018451', 'score': 0.26}, {'connected_gene': 'RNF144B', 'score': 0.12}]
chr6 GH06I018407 18407454 18407911 0.49 [{'connected_gene': 'PIR42478', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 6.18}, {'connected_gene': 'GC06P018451', 'score': 0.26}]
chr6 GH06I018448 18448321 18449421 0.2 [{'connected_gene': 'GC06P018451', 'score': 550.77}, {'connected_gene': 'RNF144B', 'score': 9.09}, {'connected_gene': 'PIR42478', 'score': 0.26}]
chr6 GH06I018411 18411601 18411800 0.4 [{'connected_gene': 'PIR42478', 'score': 0.77}, {'connected_gene': 'GC06P018451', 'score': 0.28}, {'connected_gene': 'RNF144B', 'score': 0.12}]
chr6 GH06I018464 18464207 18466113 0.57 [{'connected_gene': 'PIR57948', 'score': 550.77}, {'connected_gene': 'PIR35625', 'score': 550.77}, {'connected_gene': 'GC06P018467', 'score': 550.77}, {'connected_gene': 'GC06P018451', 'score': 0.39}, {'connected_gene': 'RNF144B', 'score': 0.09}]
chr6 GH06I018449 18449642 18452483 0.43 [{'connected_gene': 'GC06P018451', 'score': 550.77}, {'connected_gene': 'RNU6-263P', 'score': 10.57}, {'connected_gene': 'RNF144B', 'score': 9.56}, {'connected_gene': 'PIR35625', 'score': 0.39}, {'connected_gene': 'GC06P018467', 'score': 0.39}]
chr6 GH06I018467 18467645 18468464 0.73 [{'connected_gene': 'PIR57948', 'score': 550.77}, {'connected_gene': 'LOC105374955', 'score': 0.31}, {'connected_gene': 'RNF144B', 'score': 0.08}]
chr6 GH06I018468 18468550 18468699 0.63 [{'connected_gene': 'PIR57948', 'score': 550.77}, {'connected_gene': 'LOC105374955', 'score': 0.31}, {'connected_gene': 'RNF144B', 'score': 0.08}]

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