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
ENST00000303375 [[60704761, 60705281], [60741908, 60742310], [60743454, 60743628], [60743815, 60743980], [60744117, 60744231], [60744750, 60744894], [60749009, 60749198], [60749358, 60749513], [60751423, 60751531], [60753150, 60753266], [60753743, 60753892], [60754629, 60754847], [60755864, 60756007], [60757160, 60757263], [60757530, 60757669], [60757778, 60757814], [60758160, 60758321], [60758422, 60758490], [60759197, 60759298], [60759595, 60759738], [60765649, 60765764], [60765861, 60766025], [60766212, 60766321], [60766882, 60767121], [60767254, 60767423], [60767516, 60767666], [60768002, 60768122], [60768309, 60768489], [60769472, 60769499], [60769591, 60770958]] [[60705163, 60705281], [60741908, 60742310], [60743454, 60743628], [60743815, 60743980], [60744117, 60744231], [60744750, 60744894], [60749009, 60749198], [60749358, 60749513], [60751423, 60751531], [60753150, 60753266], [60753743, 60753892], [60754629, 60754847], [60755864, 60756007], [60757160, 60757263], [60757530, 60757669], [60757778, 60757814], [60758160, 60758321], [60758422, 60758490], [60759197, 60759298], [60759595, 60759738], [60765649, 60765764], [60765861, 60766025], [60766212, 60766321], [60766882, 60767121], [60767254, 60767423], [60767516, 60767666], [60768002, 60768122], [60768309, 60768489], [60769472, 60769499], [60769591, 60769812]]
ENST00000584265 [[60705045, 60705281], [60741908, 60742310], [60743454, 60743628], [60743815, 60743980], [60744117, 60744231], [60744750, 60744894], [60749009, 60749198], [60749358, 60749513], [60751423, 60751531], [60753150, 60753266], [60753743, 60753965]] None
ENST00000584682 [[60753754, 60753892], [60754629, 60754847], [60755864, 60755978], [60757160, 60757263], [60757530, 60757555]] [[60753754, 60753892], [60754629, 60754847], [60755864, 60755978], [60757160, 60757163]]
ENST00000583597 [[60757991, 60758321], [60758422, 60758490], [60759197, 60759298], [60759595, 60759738], [60765649, 60765764], [60765861, 60766025], [60766212, 60766321], [60766882, 60767121], [60767254, 60767423], [60767516, 60767666], [60768002, 60768122], [60768309, 60768489], [60769472, 60769499], [60769591, 60770914]] None
ENST00000579432 [[60758813, 60759298], [60759595, 60759684]] [[60759282, 60759298], [60759595, 60759684]]
ENST00000446119 [[60758818, 60759298], [60759416, 60759738], [60765649, 60765764], [60765861, 60766025], [60766212, 60766321], [60767254, 60767423], [60767516, 60767666], [60768002, 60768122], [60768309, 60768489], [60769472, 60769499], [60769591, 60770956]] [[60765963, 60766025], [60766212, 60766321], [60767254, 60767423], [60767516, 60767666], [60768002, 60768122], [60768309, 60768489], [60769472, 60769499], [60769591, 60769812]]
ENST00000580916 [[60766218, 60766321], [60766731, 60766798], [60767254, 60767294]] None
NM_006039 [[60704761, 60705281], [60741908, 60742310], [60743454, 60743628], [60743815, 60743980], [60744117, 60744231], [60744750, 60744894], [60749009, 60749198], [60749358, 60749513], [60751423, 60751531], [60753150, 60753266], [60753743, 60753892], [60754629, 60754847], [60755864, 60756007], [60757160, 60757263], [60757530, 60757669], [60757778, 60757814], [60758160, 60758321], [60758422, 60758490], [60759197, 60759298], [60759595, 60759738], [60765649, 60765764], [60765861, 60766025], [60766212, 60766321], [60766882, 60767121], [60767254, 60767423], [60767516, 60767666], [60768002, 60768122], [60768309, 60768489], [60769472, 60769499], [60769591, 60770962]] [[60705163, 60705281], [60741908, 60742310], [60743454, 60743628], [60743815, 60743980], [60744117, 60744231], [60744750, 60744894], [60749009, 60749198], [60749358, 60749513], [60751423, 60751531], [60753150, 60753266], [60753743, 60753892], [60754629, 60754847], [60755864, 60756007], [60757160, 60757263], [60757530, 60757669], [60757778, 60757814], [60758160, 60758321], [60758422, 60758490], [60759197, 60759298], [60759595, 60759738], [60765649, 60765764], [60765861, 60766025], [60766212, 60766321], [60766882, 60767121], [60767254, 60767423], [60767516, 60767666], [60768002, 60768122], [60768309, 60768489], [60769472, 60769499], [60769591, 60769812]]
Promoter
Chrom Start End Description
chr17 60704454 60704461 CAGE_peak_21_at_MRC2_5end
chr17 60705021 60705044 CAGE_peak_1_at_MRC2_5end
chr17 60705055 60705066 CAGE_peak_3_at_MRC2_5end
chr17 60705074 60705088 CAGE_peak_2_at_MRC2_5end
chr17 60757813 60757817 CAGE_peak_4_at_MRC2_5end
chr17 60759102 60759118 CAGE_peak_5_at_MRC2_5end
chr17 60759119 60759136 CAGE_peak_8_at_MRC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I062632 62632456 62634787 1.09 [{'connected_gene': 'MED13', 'score': 10.96}, {'connected_gene': 'MRC2', 'score': 5.43}, {'connected_gene': 'GC17P062639', 'score': 0.44}, {'connected_gene': 'ENSG00000274565', 'score': 0.44}]
chr17 GH17I062644 62644100 62644971 1.22 [{'connected_gene': 'MED13', 'score': 10.96}, {'connected_gene': 'GC17P062639', 'score': 0.44}, {'connected_gene': 'ENSG00000207382', 'score': 0.37}, {'connected_gene': 'MRC2', 'score': 0.37}, {'connected_gene': 'GC17M062662', 'score': 0.37}]
chr17 GH17I062723 62723781 62726521 1.36 [{'connected_gene': 'MED13', 'score': 22.82}, {'connected_gene': 'TLK2', 'score': 15.95}, {'connected_gene': 'RPS10P26', 'score': 11.97}, {'connected_gene': 'MIR633', 'score': 10.35}, {'connected_gene': 'MARCH10', 'score': 6.81}, {'connected_gene': 'LOC105371855', 'score': 5.3}, {'connected_gene': 'MRC2', 'score': 4.91}, {'connected_gene': 'GC17M062741', 'score': 0.37}]
chr17 GH17I062616 62616926 62620313 1.07 [{'connected_gene': 'MED13', 'score': 23.84}, {'connected_gene': 'RPS10P26', 'score': 12.04}, {'connected_gene': 'MRC2', 'score': 5.61}, {'connected_gene': 'METTL2A', 'score': 4.31}, {'connected_gene': 'ENSG00000277463', 'score': 0.44}, {'connected_gene': 'GC17P062611', 'score': 0.44}]
chr17 GH17I062714 62714026 62715663 0.89 [{'connected_gene': 'MED13', 'score': 12.05}, {'connected_gene': 'RPS10P26', 'score': 11.97}, {'connected_gene': 'MRC2', 'score': 11.48}, {'connected_gene': 'MARCH10', 'score': 5.44}, {'connected_gene': 'LOC105371855', 'score': 5.12}, {'connected_gene': 'GC17M062741', 'score': 0.31}]
chr17 GH17I062718 62718640 62718789 0.87 [{'connected_gene': 'MED13', 'score': 12.05}, {'connected_gene': 'RPS10P26', 'score': 11.97}, {'connected_gene': 'MRC2', 'score': 11.2}, {'connected_gene': 'LOC105371855', 'score': 0.37}, {'connected_gene': 'GC17M062741', 'score': 0.34}, {'connected_gene': 'MARCH10', 'score': 0.17}]
chr17 GH17I062142 62142706 62144369 1 [{'connected_gene': 'MED13', 'score': 12.59}, {'connected_gene': 'RPS10P26', 'score': 11.81}, {'connected_gene': 'ENSG00000266934', 'score': 10.56}, {'connected_gene': 'INTS2', 'score': 9.93}, {'connected_gene': 'MRC2', 'score': 9.84}, {'connected_gene': 'LOC101927855', 'score': 9.72}, {'connected_gene': 'C17orf82', 'score': 4.04}, {'connected_gene': 'POLRMTP1', 'score': 0.77}, {'connected_gene': 'GC17P062238', 'score': 0.16}]
chr17 GH17I062669 62669857 62672549 1.06 [{'connected_gene': 'MRC2', 'score': 19.31}, {'connected_gene': 'MED13', 'score': 12.05}, {'connected_gene': 'RPS10P26', 'score': 11.99}, {'connected_gene': 'ENSG00000207382', 'score': 0.44}, {'connected_gene': 'GC17M062662', 'score': 0.44}, {'connected_gene': 'ENSG00000279713', 'score': 0.39}]
chr17 GH17I062489 62489725 62491980 0.43 [{'connected_gene': 'MRC2', 'score': 5.79}, {'connected_gene': 'METTL2A', 'score': 4.8}, {'connected_gene': 'INTS2', 'score': 4.73}, {'connected_gene': 'RPS10P26', 'score': 0.31}, {'connected_gene': 'TLK2', 'score': 0.29}]
chr17 GH17I062421 62421600 62421800 0.77 [{'connected_gene': 'MRC2', 'score': 5.79}, {'connected_gene': 'METTL2A', 'score': 0.77}, {'connected_gene': 'PIR38858', 'score': 0.37}]
chr17 GH17I062702 62702834 62706791 1.67 [{'connected_gene': 'MRC2', 'score': 19.3}, {'connected_gene': 'TLK2', 'score': 15.95}, {'connected_gene': 'MED13', 'score': 12.56}, {'connected_gene': 'RNU6-446P', 'score': 12.34}, {'connected_gene': 'MIR633', 'score': 10.94}, {'connected_gene': 'LOC105371855', 'score': 5.07}, {'connected_gene': 'MARCH10', 'score': 5.02}, {'connected_gene': 'GC17M062741', 'score': 0.28}]
chr17 GH17I062625 62625578 62631464 2.13 [{'connected_gene': 'MRC2', 'score': 557.57}, {'connected_gene': 'ENSG00000274565', 'score': 550.77}, {'connected_gene': 'TLK2', 'score': 15.99}, {'connected_gene': 'INTS2', 'score': 12.69}, {'connected_gene': 'MED13', 'score': 12.56}, {'connected_gene': 'DCAF7', 'score': 10.47}, {'connected_gene': 'ENSG00000277463', 'score': 0.77}, {'connected_gene': 'GC17P062639', 'score': 0.39}]
chr17 GH17I062488 62488032 62489076 0.46 [{'connected_gene': 'MRC2', 'score': 4.96}, {'connected_gene': 'TLK2', 'score': 0.31}, {'connected_gene': 'RPS10P26', 'score': 0.31}]
chr17 GH17I062482 62482557 62483657 0.49 [{'connected_gene': 'MRC2', 'score': 5.59}, {'connected_gene': 'TLK2', 'score': 0.34}, {'connected_gene': 'RPS10P26', 'score': 0.29}]
chr17 GH17I062668 62668460 62668758 0.95 [{'connected_gene': 'MRC2', 'score': 5.58}, {'connected_gene': 'TLK2', 'score': 1.51}, {'connected_gene': 'ENSG00000207382', 'score': 0.44}, {'connected_gene': 'GC17M062662', 'score': 0.44}, {'connected_gene': 'ENSG00000279713', 'score': 0.39}]
chr17 GH17I062553 62553071 62553600 0.95 [{'connected_gene': 'MRC2', 'score': 5.86}, {'connected_gene': 'ENSG00000264546', 'score': 0.77}, {'connected_gene': 'GC17M062583', 'score': 0.29}, {'connected_gene': 'TLK2', 'score': 0.16}]
chr17 GH17I062564 62564883 62567074 0.66 [{'connected_gene': 'MRC2', 'score': 16.5}, {'connected_gene': 'RNU6-446P', 'score': 10.91}, {'connected_gene': 'ENSG00000264546', 'score': 0.37}, {'connected_gene': 'GC17M062583', 'score': 0.34}, {'connected_gene': 'TLK2', 'score': 0.14}]
chr17 GH17I062573 62572250 62572431 0.35 [{'connected_gene': 'MRC2', 'score': 11.04}, {'connected_gene': 'RNU6-446P', 'score': 10.92}, {'connected_gene': 'GC17M062583', 'score': 0.39}, {'connected_gene': 'ENSG00000264546', 'score': 0.34}, {'connected_gene': 'TLK2', 'score': 0.14}]
chr17 GH17I062572 62572510 62574015 0.62 [{'connected_gene': 'MRC2', 'score': 11.04}, {'connected_gene': 'RNU6-446P', 'score': 10.92}, {'connected_gene': 'GC17M062583', 'score': 0.39}, {'connected_gene': 'ENSG00000264546', 'score': 0.34}, {'connected_gene': 'TLK2', 'score': 0.14}]
chr17 GH17I062565 62564720 62564869 0.54 [{'connected_gene': 'MRC2', 'score': 11.01}, {'connected_gene': 'RNU6-446P', 'score': 10.91}, {'connected_gene': 'ENSG00000264546', 'score': 0.37}, {'connected_gene': 'GC17M062583', 'score': 0.34}, {'connected_gene': 'TLK2', 'score': 0.14}]
chr17 GH17I062693 62693280 62695499 1.19 [{'connected_gene': 'MRC2', 'score': 5.61}, {'connected_gene': 'LOC105371855', 'score': 0.77}, {'connected_gene': 'RNU6-446P', 'score': 0.39}]
chr17 GH17I062507 62507001 62507400 0.49 [{'connected_gene': 'MRC2', 'score': 5.32}, {'connected_gene': 'RPS10P26', 'score': 0.44}, {'connected_gene': 'TLK2', 'score': 0.25}]
chr17 GH17I062540 62540558 62541835 0.82 [{'connected_gene': 'MRC2', 'score': 5.54}, {'connected_gene': 'ENSG00000264546', 'score': 0.44}, {'connected_gene': 'RPS10P26', 'score': 0.34}, {'connected_gene': 'TLK2', 'score': 0.18}]
chr17 GH17I062648 62648273 62649200 0.86 [{'connected_gene': 'MRC2', 'score': 4.25}, {'connected_gene': 'GC17P062639', 'score': 0.44}, {'connected_gene': 'ENSG00000207382', 'score': 0.39}, {'connected_gene': 'GC17M062662', 'score': 0.39}]
chr17 GH17I062875 62875798 62877709 0.96 [{'connected_gene': 'MIR633', 'score': 11.16}, {'connected_gene': 'RNU6-446P', 'score': 10.86}, {'connected_gene': 'MRC2', 'score': 10.85}, {'connected_gene': 'CYB561', 'score': 10.04}, {'connected_gene': 'GC17P062863', 'score': 0.39}, {'connected_gene': 'GC17P062917', 'score': 0.34}]
chr17 GH17I062651 62651801 62655061 1.39 [{'connected_gene': 'INTS2', 'score': 13.38}, {'connected_gene': 'MED13', 'score': 12.05}, {'connected_gene': 'RPS10P26', 'score': 12.01}, {'connected_gene': 'METTL2A', 'score': 10.1}, {'connected_gene': 'ENSG00000207382', 'score': 0.44}, {'connected_gene': 'GC17M062662', 'score': 0.44}, {'connected_gene': 'GC17P062639', 'score': 0.39}, {'connected_gene': 'MRC2', 'score': 0.31}]
chr17 GH17I062986 62986073 62987370 0.49 [{'connected_gene': 'TANC2', 'score': 12.47}, {'connected_gene': 'MIR633', 'score': 11.47}, {'connected_gene': 'MRC2', 'score': 10.36}, {'connected_gene': 'CYB561', 'score': 4.64}, {'connected_gene': 'ENSG00000265971', 'score': 4.19}, {'connected_gene': 'GC17P062984', 'score': 0.77}, {'connected_gene': 'GC17P062996', 'score': 0.44}]
chr17 GH17I062761 62761940 62762149 0.76 [{'connected_gene': 'MARCH10', 'score': 12.74}, {'connected_gene': 'RNU6-446P', 'score': 10.86}, {'connected_gene': 'MRC2', 'score': 10.79}, {'connected_gene': 'MIR633', 'score': 10.71}, {'connected_gene': 'GC17M062752', 'score': 0.77}, {'connected_gene': 'GC17M062789', 'score': 0.28}]
chr17 GH17I062720 62720401 62720689 0.82 [{'connected_gene': 'TLK2', 'score': 15.95}, {'connected_gene': 'MED13', 'score': 12.56}, {'connected_gene': 'MRC2', 'score': 11.2}, {'connected_gene': 'MARCH10', 'score': 6.03}, {'connected_gene': 'LOC105371855', 'score': 5.39}, {'connected_gene': 'GC17M062741', 'score': 0.37}]
chr17 GH17I062721 62720240 62720389 0.52 [{'connected_gene': 'TLK2', 'score': 15.95}, {'connected_gene': 'MED13', 'score': 12.56}, {'connected_gene': 'MRC2', 'score': 11.2}, {'connected_gene': 'GC17M062741', 'score': 0.34}, {'connected_gene': 'LOC105371855', 'score': 0.34}, {'connected_gene': 'MARCH10', 'score': 0.17}]
chr17 GH17I062477 62477309 62481027 2.1 [{'connected_gene': 'TLK2', 'score': 566.23}, {'connected_gene': 'MED13', 'score': 22.84}, {'connected_gene': 'RPS10P26', 'score': 12.17}, {'connected_gene': 'MRC2', 'score': 5.3}, {'connected_gene': 'METTL2A', 'score': 4.72}, {'connected_gene': 'INTS2', 'score': 4.36}]
chr17 GH17I063029 63029523 63030114 0.31 [{'connected_gene': 'RNU6-446P', 'score': 10.77}, {'connected_gene': 'MRC2', 'score': 10.76}, {'connected_gene': 'ENSG00000272164', 'score': 0.34}, {'connected_gene': 'LOC100419888', 'score': 0.22}, {'connected_gene': 'TANC2', 'score': 0.21}]
chr17 GH17I062869 62869503 62871160 1.14 [{'connected_gene': 'RNU6-446P', 'score': 10.86}, {'connected_gene': 'MRC2', 'score': 10.85}, {'connected_gene': 'GC17P062863', 'score': 0.44}, {'connected_gene': 'GC17P062917', 'score': 0.31}]
chr17 GH17I062610 62610901 62615369 0.89 [{'connected_gene': 'GC17P062611', 'score': 550.77}, {'connected_gene': 'MED13', 'score': 12.05}, {'connected_gene': 'RPS10P26', 'score': 12.04}, {'connected_gene': 'MRC2', 'score': 5.23}, {'connected_gene': 'ENSG00000277463', 'score': 0.39}, {'connected_gene': 'TLK2', 'score': 0.1}]
chr17 GH17I062591 62591185 62592133 0.38 [{'connected_gene': 'GC17P062592', 'score': 550.77}, {'connected_gene': 'MRC2', 'score': 16.44}, {'connected_gene': 'GC17M062583', 'score': 0.44}, {'connected_gene': 'TLK2', 'score': 0.12}]
chr17 GH17I062587 62587560 62587896 0.46 [{'connected_gene': 'GC17M062583', 'score': 550.77}, {'connected_gene': 'MRC2', 'score': 11.2}, {'connected_gene': 'GC17P062592', 'score': 0.44}, {'connected_gene': 'TLK2', 'score': 0.13}]
chr17 GH17I062675 62675033 62675989 0.38 [{'connected_gene': 'ENSG00000279713', 'score': 0.44}, {'connected_gene': 'ENSG00000207382', 'score': 0.39}, {'connected_gene': 'GC17M062662', 'score': 0.39}, {'connected_gene': 'MRC2', 'score': 0.25}]
chr17 GH17I062636 62636889 62637058 0.49 [{'connected_gene': 'GC17P062639', 'score': 0.77}, {'connected_gene': 'ENSG00000274565', 'score': 0.44}, {'connected_gene': 'MRC2', 'score': 0.39}]
chr17 GH17I062759 62759683 62760917 0.76 [{'connected_gene': 'GC17M062752', 'score': 550.77}, {'connected_gene': 'MARCH10', 'score': 12.76}, {'connected_gene': 'RNU6-446P', 'score': 10.86}, {'connected_gene': 'MRC2', 'score': 10.79}, {'connected_gene': 'MIR633', 'score': 10.71}, {'connected_gene': 'GC17M062789', 'score': 0.28}]
chr17 GH17I062680 62680160 62682289 1.16 [{'connected_gene': 'ENSG00000279713', 'score': 550.77}, {'connected_gene': 'TLK2', 'score': 15.96}, {'connected_gene': 'MED13', 'score': 12.56}, {'connected_gene': 'MRC2', 'score': 8.94}, {'connected_gene': 'ENSG00000207382', 'score': 0.37}, {'connected_gene': 'GC17M062662', 'score': 0.37}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.