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
ENST00000415300 [[57742376, 57742482], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]] [[57742481, 57742482], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]]
ENST00000448930 [[57742376, 57742487], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746915]] [[57743153, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]]
ENST00000302804 [[57742430, 57742674], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746916]] [[57742616, 57742674], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]]
ENST00000601799 [[57742507, 57743155], [57743400, 57743592], [57743909, 57744053], [57744827, 57744976], [57746251, 57746426], [57746614, 57746916]] [[57742616, 57742757]]
ENST00000599062 [[57742616, 57742674], [57743118, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]] [[57742616, 57742674], [57743118, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]]
ENST00000598785 [[57742986, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746915]] [[57743153, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]]
ENST00000596375 [[57743095, 57743155], [57743400, 57743592], [57743909, 57744053], [57744827, 57744976], [57746251, 57746426], [57746614, 57746771]] [[57743153, 57743155], [57743400, 57743592], [57743909, 57744053], [57744827, 57744831]]
ENST00000594599 [[57743985, 57744053], [57746251, 57746426], [57746614, 57746916]] [[57743985, 57744053], [57746251, 57746426], [57746614, 57746785]]
NM_001015879 [[57742376, 57742482], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746916]] [[57742481, 57742482], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]]
NM_003160 [[57742376, 57742487], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746916]] [[57743153, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]]
NM_001015878 [[57742427, 57742674], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746916]] [[57742616, 57742674], [57743109, 57743155], [57743400, 57743592], [57743909, 57744048], [57744827, 57744976], [57746251, 57746426], [57746614, 57746785]]
Promoter
Chrom Start End Description
chr19 57742369 57742373 CAGE_peak_6_at_AURKC_5end
chr19 57742385 57742396 CAGE_peak_2_at_AURKC_5end
chr19 57742397 57742420 CAGE_peak_3_at_AURKC_5end
chr19 57742433 57742444 CAGE_peak_1_at_AURKC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I057190 57190800 57192774 1.94 [{'connected_gene': 'ZNF264', 'score': 561.88}, {'connected_gene': 'ZNF548', 'score': 26.04}, {'connected_gene': 'ZNF417', 'score': 23.28}, {'connected_gene': 'ZNF134', 'score': 22.49}, {'connected_gene': 'ZNF274', 'score': 19.76}, {'connected_gene': 'AURKC', 'score': 18.46}, {'connected_gene': 'ZNF773', 'score': 13.17}, {'connected_gene': 'ZNF550', 'score': 11.93}, {'connected_gene': 'ZIM3', 'score': 11.16}, {'connected_gene': 'ZNF805', 'score': 11.06}, {'connected_gene': 'ZNF256', 'score': 10.33}, {'connected_gene': 'ZNF211', 'score': 10.11}, {'connected_gene': 'ZNF606', 'score': 10.11}, {'connected_gene': 'DUXA', 'score': 9.56}, {'connected_gene': 'ZNF460-AS1', 'score': 5.92}, {'connected_gene': 'PIR40321', 'score': 0.31}]
chr19 GH19I056983 56983292 56983992 0.89 [{'connected_gene': 'AURKC', 'score': 12.26}, {'connected_gene': 'USP29', 'score': 9.1}, {'connected_gene': 'ZNF471', 'score': 2.08}, {'connected_gene': 'ZNF835', 'score': 1.62}, {'connected_gene': 'ZNF772', 'score': 1.28}, {'connected_gene': 'GC19P057027', 'score': 0.26}, {'connected_gene': 'ENSG00000269786', 'score': 0.21}]
chr19 GH19I057231 57231556 57231615 0.61 [{'connected_gene': 'AURKC', 'score': 550.77}, {'connected_gene': 'ZNF805', 'score': 0.44}]
chr19 GH19I057230 57230974 57231033 1 [{'connected_gene': 'AURKC', 'score': 550.77}, {'connected_gene': 'ZNF805', 'score': 0.44}]
chr19 GH19I057269 57269161 57270297 1.05 [{'connected_gene': 'AURKC', 'score': 12.37}, {'connected_gene': 'LOC100132009', 'score': 9.3}, {'connected_gene': 'ZNF460', 'score': 7.0}, {'connected_gene': 'ZSCAN4', 'score': 1.78}, {'connected_gene': 'ZNF154', 'score': 1.31}, {'connected_gene': 'GC19M057263', 'score': 0.44}, {'connected_gene': 'ZNF460-AS1', 'score': 0.39}]
chr19 GH19I057095 57095716 57098180 0.64 [{'connected_gene': 'USP29', 'score': 12.01}, {'connected_gene': 'ZIM3', 'score': 11.13}, {'connected_gene': 'ZIM2', 'score': 10.03}, {'connected_gene': 'PEG3', 'score': 10.03}, {'connected_gene': 'AURKC', 'score': 9.69}, {'connected_gene': 'ZNF805', 'score': 9.68}, {'connected_gene': 'ZNF418', 'score': 4.57}, {'connected_gene': 'ZNF814', 'score': 4.51}, {'connected_gene': 'ZNF417', 'score': 4.5}, {'connected_gene': 'LOC100128398', 'score': 4.45}, {'connected_gene': 'LOC100419839', 'score': 0.37}, {'connected_gene': 'GC19M057058', 'score': 0.37}]
chr19 GH19I056836 56836614 56843045 2.11 [{'connected_gene': 'PEG3', 'score': 562.66}, {'connected_gene': 'ZIM2', 'score': 555.04}, {'connected_gene': 'MIMT1', 'score': 550.77}, {'connected_gene': 'ZNF471', 'score': 6.65}, {'connected_gene': 'SMIM17', 'score': 6.04}, {'connected_gene': 'ZNF667', 'score': 4.36}, {'connected_gene': 'ZNF835', 'score': 4.22}, {'connected_gene': 'ZNF470', 'score': 2.83}, {'connected_gene': 'ZNF583', 'score': 2.72}, {'connected_gene': 'ZFP28', 'score': 1.72}, {'connected_gene': 'ZNF543', 'score': 1.3}, {'connected_gene': 'AURKC', 'score': 1.29}, {'connected_gene': 'ZNF71', 'score': 1.26}, {'connected_gene': 'GC19M056816', 'score': 0.34}, {'connected_gene': 'PIR35228', 'score': 0.34}]
chr19 GH19I057239 57239857 57242439 2.02 [{'connected_gene': 'ZNF805', 'score': 570.55}, {'connected_gene': 'ZNF264', 'score': 43.76}, {'connected_gene': 'ZNF543', 'score': 20.89}, {'connected_gene': 'ZNF274', 'score': 19.47}, {'connected_gene': 'ZNF548', 'score': 17.47}, {'connected_gene': 'ZNF417', 'score': 15.72}, {'connected_gene': 'AURKC', 'score': 15.33}, {'connected_gene': 'ZNF471', 'score': 15.11}, {'connected_gene': 'ZNF134', 'score': 14.11}, {'connected_gene': 'ZNF550', 'score': 14.0}, {'connected_gene': 'ZNF773', 'score': 12.12}, {'connected_gene': 'ZNF587B', 'score': 11.79}, {'connected_gene': 'ZNF587', 'score': 11.11}, {'connected_gene': 'ZNF776', 'score': 11.06}, {'connected_gene': 'ZNF460', 'score': 10.47}, {'connected_gene': 'ZNF586', 'score': 9.87}, {'connected_gene': 'ZNF256', 'score': 9.84}, {'connected_gene': 'ZFP28', 'score': 9.68}, {'connected_gene': 'ENSG00000268713', 'score': 0.34}]
chr19 GH19I057321 57321873 57322022 0.31 [{'connected_gene': 'ZNF543', 'score': 550.77}, {'connected_gene': 'ZNF304', 'score': 12.22}, {'connected_gene': 'ZNF547', 'score': 11.01}, {'connected_gene': 'TRAPPC2B', 'score': 11.01}, {'connected_gene': 'ZNF805', 'score': 10.58}, {'connected_gene': 'AURKC', 'score': 10.5}, {'connected_gene': 'ZNF256', 'score': 9.4}, {'connected_gene': 'RPL19P19', 'score': 9.4}, {'connected_gene': 'USP29', 'score': 9.27}, {'connected_gene': 'VN1R1', 'score': 9.15}, {'connected_gene': 'ENSG00000268678', 'score': 4.76}, {'connected_gene': 'PIR55122', 'score': 0.44}]
chr19 GH19I057319 57319778 57321832 2.02 [{'connected_gene': 'ZNF543', 'score': 559.56}, {'connected_gene': 'ZNF805', 'score': 22.25}, {'connected_gene': 'ZNF548', 'score': 20.72}, {'connected_gene': 'ZNF304', 'score': 18.51}, {'connected_gene': 'ZNF586', 'score': 15.15}, {'connected_gene': 'ZNF264', 'score': 15.13}, {'connected_gene': 'ZNF274', 'score': 13.44}, {'connected_gene': 'ZNF587B', 'score': 13.16}, {'connected_gene': 'ZNF547', 'score': 11.01}, {'connected_gene': 'TRAPPC2B', 'score': 11.01}, {'connected_gene': 'ZNF587', 'score': 10.68}, {'connected_gene': 'ZNF134', 'score': 10.6}, {'connected_gene': 'AURKC', 'score': 10.5}, {'connected_gene': 'ENSG00000268392', 'score': 10.1}, {'connected_gene': 'ZNF417', 'score': 9.99}, {'connected_gene': 'ZNF256', 'score': 9.4}, {'connected_gene': 'RPL19P19', 'score': 9.4}, {'connected_gene': 'USP29', 'score': 9.27}, {'connected_gene': 'VN1R1', 'score': 9.15}, {'connected_gene': 'PIR55122', 'score': 0.44}]
chr19 GH19I057103 57103801 57104323 0.92 [{'connected_gene': 'ZIM3', 'score': 10.71}, {'connected_gene': 'AURKC', 'score': 10.12}, {'connected_gene': 'ZNF805', 'score': 10.11}, {'connected_gene': 'LOC100419839', 'score': 0.44}, {'connected_gene': 'GC19M057058', 'score': 0.31}, {'connected_gene': 'GC19M057103', 'score': 0.2}]
chr19 GH19I057099 57099253 57099402 0.84 [{'connected_gene': 'ZIM3', 'score': 11.13}, {'connected_gene': 'PEG3', 'score': 10.03}, {'connected_gene': 'ZIM2', 'score': 10.03}, {'connected_gene': 'AURKC', 'score': 9.69}, {'connected_gene': 'ZNF805', 'score': 9.68}, {'connected_gene': 'LOC100419839', 'score': 0.39}, {'connected_gene': 'GC19M057058', 'score': 0.34}]
chr19 GH19I057278 57278134 57284817 2.3 [{'connected_gene': 'ZNF460', 'score': 569.65}, {'connected_gene': 'ZNF460-AS1', 'score': 557.64}, {'connected_gene': 'ZNF264', 'score': 37.59}, {'connected_gene': 'ZNF805', 'score': 32.09}, {'connected_gene': 'ZNF134', 'score': 24.49}, {'connected_gene': 'ZNF543', 'score': 23.26}, {'connected_gene': 'ZNF549', 'score': 22.73}, {'connected_gene': 'ZNF17', 'score': 20.95}, {'connected_gene': 'ZNF329', 'score': 20.04}, {'connected_gene': 'ZNF256', 'score': 19.84}, {'connected_gene': 'ZNF274', 'score': 19.47}, {'connected_gene': 'LOC100128398', 'score': 19.21}, {'connected_gene': 'ZNF548', 'score': 17.5}, {'connected_gene': 'ZNF417', 'score': 15.72}, {'connected_gene': 'ZNF550', 'score': 14.01}, {'connected_gene': 'ZNF471', 'score': 13.78}, {'connected_gene': 'ZNF418', 'score': 13.17}, {'connected_gene': 'LOC105372482', 'score': 12.73}, {'connected_gene': 'ZNF606', 'score': 12.41}, {'connected_gene': 'ZNF304', 'score': 12.35}, {'connected_gene': 'ZNF773', 'score': 12.13}, {'connected_gene': 'ZNF416', 'score': 12.07}, {'connected_gene': 'ZNF582', 'score': 12.07}, {'connected_gene': 'ZNF587B', 'score': 11.79}, {'connected_gene': 'ZNF547', 'score': 11.59}, {'connected_gene': 'TRAPPC2B', 'score': 11.59}, {'connected_gene': 'ZNF135', 'score': 11.12}, {'connected_gene': 'ZNF587', 'score': 11.11}, {'connected_gene': 'ZNF776', 'score': 11.07}, {'connected_gene': 'ZNF470', 'score': 11.05}, {'connected_gene': 'ZNF542P', 'score': 10.81}, {'connected_gene': 'AURKC', 'score': 10.5}, {'connected_gene': 'ZIM2', 'score': 10.43}, {'connected_gene': 'ZFP28', 'score': 10.31}, {'connected_gene': 'ZNF586', 'score': 9.88}, {'connected_gene': 'ENSG00000268713', 'score': 6.65}, {'connected_gene': 'ENSG00000268205', 'score': 6.23}, {'connected_gene': 'ENSG00000279541', 'score': 0.39}]
chr19 GH19I057301 57301237 57303538 0.62 [{'connected_gene': 'ENSG00000268205', 'score': 555.97}, {'connected_gene': 'PIR44993', 'score': 550.77}, {'connected_gene': 'GC19P057303', 'score': 550.77}, {'connected_gene': 'ZNF805', 'score': 11.3}, {'connected_gene': 'AURKC', 'score': 11.28}, {'connected_gene': 'ENSG00000268266', 'score': 4.48}]
chr19 GH19I057317 57317600 57317801 0.61 [{'connected_gene': 'GC19M057307', 'score': 550.77}, {'connected_gene': 'LOC100288211', 'score': 550.77}, {'connected_gene': 'ZNF304', 'score': 18.65}, {'connected_gene': 'ZNF805', 'score': 10.76}, {'connected_gene': 'AURKC', 'score': 10.69}, {'connected_gene': 'ENSG00000268205', 'score': 0.39}]
chr19 GH19I057171 57171401 57173002 0.97 [{'connected_gene': 'GC19M057103', 'score': 550.77}, {'connected_gene': 'LOC100132009', 'score': 26.51}, {'connected_gene': 'AURKC', 'score': 17.15}, {'connected_gene': 'ZNF805', 'score': 10.75}, {'connected_gene': 'DUXA', 'score': 0.77}]

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