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
ENST00000226105 [[8191814, 8192183], [8192273, 8192390], [8192575, 8192732], [8192820, 8192906], [8193130, 8193410]] [[8192106, 8192183], [8192273, 8192390], [8192575, 8192732], [8192820, 8192906], [8193130, 8193254]]
ENST00000407006 [[8191971, 8192183], [8192273, 8192390], [8192575, 8192732], [8192820, 8193408]] [[8192106, 8192183], [8192273, 8192390], [8192575, 8192732], [8192820, 8192910]]
ENST00000580434 [[8191988, 8192183], [8192273, 8192390], [8192575, 8192732], [8193130, 8193410]] [[8192106, 8192183], [8192273, 8192390], [8192575, 8192732], [8193130, 8193136]]
ENST00000439238 [[8191995, 8192183], [8192273, 8192390], [8192575, 8193410]] [[8192106, 8192183], [8192273, 8192390], [8192575, 8192879]]
ENST00000578849 [[8192016, 8192183], [8192273, 8192713]] None
ENST00000580777 [[8192202, 8192390], [8192575, 8192732], [8192820, 8193259]] None
NM_001330127 [[8191814, 8192183], [8192273, 8192390], [8192575, 8192732], [8193130, 8193410]] [[8192106, 8192183], [8192273, 8192390], [8192575, 8192732], [8193130, 8193136]]
NM_016492 [[8191968, 8192183], [8192273, 8192390], [8192575, 8192732], [8192820, 8192906], [8193130, 8193409]] [[8192106, 8192183], [8192273, 8192390], [8192575, 8192732], [8192820, 8192906], [8193130, 8193254]]
NM_001177801 [[8191968, 8192183], [8192273, 8192390], [8192575, 8192732], [8192820, 8193409]] [[8192106, 8192183], [8192273, 8192390], [8192575, 8192732], [8192820, 8192910]]
NM_001177802 [[8191968, 8192183], [8192273, 8192390], [8192575, 8193409]] [[8192106, 8192183], [8192273, 8192390], [8192575, 8192879]]
Promoter
Chrom Start End Description
chr17 8191955 8192025 CAGE_peak_1_at_RANGRF_5end
chr17 8192092 8192103 CAGE_peak_2_at_RANGRF_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I008415 8414601 8415000 0.2 [{'connected_gene': 'NDEL1', 'score': 555.89}, {'connected_gene': 'RPL26', 'score': 11.29}, {'connected_gene': 'KRBA2', 'score': 11.28}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'SLC25A35', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'RNF222', 'score': 5.22}, {'connected_gene': 'GC17P008467', 'score': 0.23}]
chr17 GH17I008414 8414201 8414400 0.31 [{'connected_gene': 'NDEL1', 'score': 550.77}, {'connected_gene': 'RPL26', 'score': 11.29}, {'connected_gene': 'KRBA2', 'score': 11.28}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'SLC25A35', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'GC17P008467', 'score': 0.23}]
chr17 GH17I008412 8412163 8413800 1.26 [{'connected_gene': 'NDEL1', 'score': 560.17}, {'connected_gene': 'WRAP53', 'score': 11.56}, {'connected_gene': 'RPL26', 'score': 11.31}, {'connected_gene': 'KRBA2', 'score': 11.28}, {'connected_gene': 'ZBTB4', 'score': 10.82}, {'connected_gene': 'SLC25A35', 'score': 10.57}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'PIK3R6', 'score': 9.14}, {'connected_gene': 'CNTROB', 'score': 4.16}, {'connected_gene': 'PER1', 'score': 2.99}, {'connected_gene': 'BORCS6', 'score': 2.35}, {'connected_gene': 'RNF222', 'score': 0.37}]
chr17 GH17I008409 8409887 8411127 1.09 [{'connected_gene': 'RPL26', 'score': 11.31}, {'connected_gene': 'KRBA2', 'score': 11.29}, {'connected_gene': 'SLC25A35', 'score': 10.57}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'NDEL1', 'score': 5.24}, {'connected_gene': 'RNF222', 'score': 0.39}]
chr17 GH17I008408 8408091 8409114 0.77 [{'connected_gene': 'RPL26', 'score': 11.31}, {'connected_gene': 'KRBA2', 'score': 11.29}, {'connected_gene': 'SLC25A35', 'score': 10.97}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'RNU7-43P', 'score': 10.38}, {'connected_gene': 'MYH10', 'score': 10.3}, {'connected_gene': 'NDEL1', 'score': 0.77}, {'connected_gene': 'RNF222', 'score': 0.39}]
chr17 GH17I008245 8245158 8250703 2.28 [{'connected_gene': 'PFAS', 'score': 599.92}, {'connected_gene': 'CTC1', 'score': 573.98}, {'connected_gene': 'NEURL4', 'score': 37.26}, {'connected_gene': 'SENP3', 'score': 30.29}, {'connected_gene': 'CYB5D1', 'score': 24.64}, {'connected_gene': 'RANGRF', 'score': 23.07}, {'connected_gene': 'CNTROB', 'score': 22.57}, {'connected_gene': 'WRAP53', 'score': 21.21}, {'connected_gene': 'ZBTB4', 'score': 19.14}, {'connected_gene': 'NLGN2', 'score': 13.76}, {'connected_gene': 'SLC25A35', 'score': 13.17}, {'connected_gene': 'POLR2A', 'score': 12.74}, {'connected_gene': 'SNORD10', 'score': 12.09}, {'connected_gene': 'LINC00324', 'score': 11.97}, {'connected_gene': 'SNORA48', 'score': 10.2}, {'connected_gene': 'ENSG00000265749', 'score': 10.09}, {'connected_gene': 'CHD3', 'score': 9.9}, {'connected_gene': 'LOC100996842', 'score': 9.66}, {'connected_gene': 'VAMP2', 'score': 4.55}]
chr17 GH17I008326 8326203 8327800 0.77 [{'connected_gene': 'PFAS', 'score': 24.44}, {'connected_gene': 'CTC1', 'score': 23.49}, {'connected_gene': 'CNTROB', 'score': 18.19}, {'connected_gene': 'POLR2A', 'score': 15.11}, {'connected_gene': 'WRAP53', 'score': 14.6}, {'connected_gene': 'ENSG00000265749', 'score': 13.79}, {'connected_gene': 'ODF4', 'score': 12.42}, {'connected_gene': 'KRBA2', 'score': 11.51}, {'connected_gene': 'SLC25A35', 'score': 11.27}, {'connected_gene': 'RANGRF', 'score': 11.25}, {'connected_gene': 'KDM6B', 'score': 10.61}, {'connected_gene': 'SNORD10', 'score': 10.33}, {'connected_gene': 'AURKB', 'score': 10.0}, {'connected_gene': 'RNF222', 'score': 9.71}, {'connected_gene': 'SNORD118', 'score': 9.65}, {'connected_gene': 'TMEM107', 'score': 9.65}, {'connected_gene': 'ENSG00000226871', 'score': 7.89}, {'connected_gene': 'GC17P008331', 'score': 0.77}]
chr17 GH17I008149 8149325 8165312 2.67 [{'connected_gene': 'PER1', 'score': 578.58}, {'connected_gene': 'VAMP2', 'score': 560.18}, {'connected_gene': 'ENSG00000265749', 'score': 32.6}, {'connected_gene': 'CYB5D1', 'score': 32.26}, {'connected_gene': 'CTC1', 'score': 32.21}, {'connected_gene': 'DVL2', 'score': 32.1}, {'connected_gene': 'PFAS', 'score': 23.95}, {'connected_gene': 'CNTROB', 'score': 22.97}, {'connected_gene': 'SENP3', 'score': 20.89}, {'connected_gene': 'POLR2A', 'score': 20.3}, {'connected_gene': 'WRAP53', 'score': 20.15}, {'connected_gene': 'TP53', 'score': 19.2}, {'connected_gene': 'NDEL1', 'score': 16.83}, {'connected_gene': 'GPS2', 'score': 15.79}, {'connected_gene': 'SNORD10', 'score': 14.17}, {'connected_gene': 'SNORA48', 'score': 13.32}, {'connected_gene': 'NEURL4', 'score': 12.12}, {'connected_gene': 'EIF4A1', 'score': 12.0}, {'connected_gene': 'ZBTB4', 'score': 10.95}, {'connected_gene': 'PLSCR3', 'score': 10.82}, {'connected_gene': 'KCTD11', 'score': 10.6}, {'connected_gene': 'SLC25A35', 'score': 10.54}, {'connected_gene': 'SCARNA21', 'score': 10.13}, {'connected_gene': 'RANGRF', 'score': 10.0}, {'connected_gene': 'LOC100996842', 'score': 9.9}, {'connected_gene': 'RPL26', 'score': 9.74}, {'connected_gene': 'KDM6B', 'score': 9.07}, {'connected_gene': 'BORCS6', 'score': 2.55}, {'connected_gene': 'ENSG00000263620', 'score': 0.44}]
chr17 GH17I008287 8287673 8290275 1.99 [{'connected_gene': 'RANGRF', 'score': 550.77}, {'connected_gene': 'PFAS', 'score': 9.56}, {'connected_gene': 'ARHGEF15', 'score': 4.74}, {'connected_gene': 'GC17M008518', 'score': 0.77}, {'connected_gene': 'PIR39549', 'score': 0.77}, {'connected_gene': 'SLC25A35', 'score': 0.44}]
chr17 GH17I008285 8285333 8286392 0.63 [{'connected_gene': 'RANGRF', 'score': 0.77}, {'connected_gene': 'GC17M008524', 'score': 0.44}]
chr17 GH17I008895 8895509 8897162 0.46 [{'connected_gene': 'CCDC42', 'score': 11.67}, {'connected_gene': 'ENSG00000271851', 'score': 11.06}, {'connected_gene': 'SPDYE4', 'score': 10.38}, {'connected_gene': 'RANGRF', 'score': 9.91}, {'connected_gene': 'PIK3R5', 'score': 7.64}, {'connected_gene': 'GC17M008877', 'score': 0.44}]
chr17 GH17I007896 7896965 7898532 0.65 [{'connected_gene': 'CYB5D1', 'score': 25.62}, {'connected_gene': 'KCNAB3', 'score': 20.75}, {'connected_gene': 'KDM6B', 'score': 17.47}, {'connected_gene': 'TMEM88', 'score': 12.28}, {'connected_gene': 'NEURL4', 'score': 12.12}, {'connected_gene': 'SENP3', 'score': 12.05}, {'connected_gene': 'ALOX15B', 'score': 11.21}, {'connected_gene': 'CNTROB', 'score': 11.18}, {'connected_gene': 'TRAPPC1', 'score': 11.18}, {'connected_gene': 'ZBTB4', 'score': 10.97}, {'connected_gene': 'GUCY2D', 'score': 10.68}, {'connected_gene': 'RANGRF', 'score': 9.93}, {'connected_gene': 'GC17P007907', 'score': 0.44}, {'connected_gene': 'CHD3', 'score': 0.39}, {'connected_gene': 'NAA38', 'score': 0.39}]
chr17 GH17I007931 7931068 7933916 2.08 [{'connected_gene': 'CNTROB', 'score': 574.08}, {'connected_gene': 'ENSG00000262730', 'score': 550.77}, {'connected_gene': 'TRAPPC1', 'score': 550.77}, {'connected_gene': 'PFAS', 'score': 54.24}, {'connected_gene': 'DVL2', 'score': 49.4}, {'connected_gene': 'CYB5D1', 'score': 24.78}, {'connected_gene': 'SCARNA21', 'score': 21.71}, {'connected_gene': 'CHD3', 'score': 21.43}, {'connected_gene': 'SENP3', 'score': 20.87}, {'connected_gene': 'CTC1', 'score': 20.43}, {'connected_gene': 'NEURL4', 'score': 20.05}, {'connected_gene': 'WRAP53', 'score': 18.73}, {'connected_gene': 'KCNAB3', 'score': 17.08}, {'connected_gene': 'SNORD10', 'score': 14.2}, {'connected_gene': 'SNORA48', 'score': 13.34}, {'connected_gene': 'EIF4A1', 'score': 12.02}, {'connected_gene': 'ENSG00000262089', 'score': 11.93}, {'connected_gene': 'ENSG00000265749', 'score': 11.81}, {'connected_gene': 'GUCY2D', 'score': 11.46}, {'connected_gene': 'ZBTB4', 'score': 10.97}, {'connected_gene': 'TP53', 'score': 10.97}, {'connected_gene': 'PLSCR3', 'score': 10.82}, {'connected_gene': 'ALOX15B', 'score': 10.62}, {'connected_gene': 'KCTD11', 'score': 10.6}, {'connected_gene': 'POLR2A', 'score': 10.56}, {'connected_gene': 'SLC25A35', 'score': 10.48}, {'connected_gene': 'HES7', 'score': 10.23}, {'connected_gene': 'NLGN2', 'score': 10.22}, {'connected_gene': 'RANGRF', 'score': 9.94}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'RNF227', 'score': 6.15}, {'connected_gene': 'LOC105371517', 'score': 0.37}]
chr17 GH17I008079 8079195 8080787 1.44 [{'connected_gene': 'LOC107985075', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 26.12}, {'connected_gene': 'SENP3', 'score': 20.89}, {'connected_gene': 'SNORD10', 'score': 14.11}, {'connected_gene': 'RPL26', 'score': 13.9}, {'connected_gene': 'CYB5D1', 'score': 13.42}, {'connected_gene': 'SNORA48', 'score': 12.63}, {'connected_gene': 'PLSCR3', 'score': 12.36}, {'connected_gene': 'NEURL4', 'score': 12.12}, {'connected_gene': 'PER1', 'score': 11.66}, {'connected_gene': 'KCTD11', 'score': 11.58}, {'connected_gene': 'ZBTB4', 'score': 10.95}, {'connected_gene': 'MIR324', 'score': 10.53}, {'connected_gene': 'PFAS', 'score': 10.06}, {'connected_gene': 'RANGRF', 'score': 9.96}, {'connected_gene': 'CTC1', 'score': 9.92}, {'connected_gene': 'NAA38', 'score': 5.54}, {'connected_gene': 'ALOX12B', 'score': 0.44}]
chr17 GH17I008137 8137601 8141300 1.53 [{'connected_gene': 'TRS-CGA1-1', 'score': 550.77}, {'connected_gene': 'GC17M008512', 'score': 550.77}, {'connected_gene': 'GC17M008509', 'score': 550.77}, {'connected_gene': 'TRT-AGT5-1', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 104.85}, {'connected_gene': 'PFAS', 'score': 84.15}, {'connected_gene': 'ENSG00000265749', 'score': 41.47}, {'connected_gene': 'SENP3', 'score': 38.64}, {'connected_gene': 'NEURL4', 'score': 36.83}, {'connected_gene': 'CNTROB', 'score': 30.2}, {'connected_gene': 'CTC1', 'score': 26.16}, {'connected_gene': 'SNORD10', 'score': 22.88}, {'connected_gene': 'POLR2A', 'score': 18.51}, {'connected_gene': 'WRAP53', 'score': 18.41}, {'connected_gene': 'SNORA48', 'score': 13.32}, {'connected_gene': 'LOC100996842', 'score': 12.86}, {'connected_gene': 'EIF4A1', 'score': 11.99}, {'connected_gene': 'RPL26', 'score': 11.23}, {'connected_gene': 'ENSG00000269947', 'score': 11.16}, {'connected_gene': 'ATP1B2', 'score': 10.95}, {'connected_gene': 'TP53', 'score': 10.95}, {'connected_gene': 'PLSCR3', 'score': 10.81}, {'connected_gene': 'CYB5D1', 'score': 10.64}, {'connected_gene': 'KCNAB3', 'score': 10.62}, {'connected_gene': 'KCTD11', 'score': 10.6}, {'connected_gene': 'SLC25A35', 'score': 10.53}, {'connected_gene': 'RANGRF', 'score': 10.27}, {'connected_gene': 'SCARNA21', 'score': 10.14}, {'connected_gene': 'ZBTB4', 'score': 9.99}, {'connected_gene': 'HES7', 'score': 5.08}, {'connected_gene': 'KRBA2', 'score': 4.81}, {'connected_gene': 'ENSG00000226871', 'score': 4.68}, {'connected_gene': 'LOC105376799', 'score': 0.39}, {'connected_gene': 'PER1', 'score': 0.37}]
chr17 GH17I008379 8379669 8385831 2.11 [{'connected_gene': 'ENSG00000263809', 'score': 550.77}, {'connected_gene': 'RPL26', 'score': 550.77}, {'connected_gene': 'ENSG00000265749', 'score': 30.35}, {'connected_gene': 'PFAS', 'score': 28.34}, {'connected_gene': 'SNORD10', 'score': 24.59}, {'connected_gene': 'EIF4A1', 'score': 24.17}, {'connected_gene': 'CTC1', 'score': 22.26}, {'connected_gene': 'POLR2A', 'score': 22.1}, {'connected_gene': 'SNORA48', 'score': 22.09}, {'connected_gene': 'TP53', 'score': 21.81}, {'connected_gene': 'CNTROB', 'score': 20.93}, {'connected_gene': 'KRBA2', 'score': 18.08}, {'connected_gene': 'PLSCR3', 'score': 13.04}, {'connected_gene': 'ODF4', 'score': 11.91}, {'connected_gene': 'WRAP53', 'score': 11.16}, {'connected_gene': 'RANGRF', 'score': 10.32}, {'connected_gene': 'LOC100996842', 'score': 10.01}, {'connected_gene': 'PER1', 'score': 9.75}]
chr17 GH17I008894 8894201 8895296 1.17 [{'connected_gene': 'ENSG00000271851', 'score': 11.05}, {'connected_gene': 'RANGRF', 'score': 9.91}, {'connected_gene': 'GC17M008877', 'score': 0.77}, {'connected_gene': 'PIK3R5', 'score': 0.19}]
chr17 GH17I008280 8280889 8281812 0.6 [{'connected_gene': 'GC17M008524', 'score': 550.77}, {'connected_gene': 'ENSG00000226871', 'score': 4.43}, {'connected_gene': 'RANGRF', 'score': 0.44}]
chr17 GH17I008038 8038801 8042072 1.49 [{'connected_gene': 'GC17M008522', 'score': 550.77}, {'connected_gene': 'ALOX15B', 'score': 550.77}, {'connected_gene': 'CYB5D1', 'score': 13.43}, {'connected_gene': 'NEURL4', 'score': 12.12}, {'connected_gene': 'SENP3', 'score': 12.05}, {'connected_gene': 'ZBTB4', 'score': 10.95}, {'connected_gene': 'RANGRF', 'score': 9.95}, {'connected_gene': 'NAA38', 'score': 6.11}, {'connected_gene': 'ENSG00000263427', 'score': 5.77}, {'connected_gene': 'CD68', 'score': 4.7}]

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