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
ENST00000251127 [[101706129, 101707840], [101710290, 101710408], [101712169, 101712319], [101714319, 101714470], [101717755, 101717913], [101720269, 101720385], [101721046, 101721179], [101725935, 101726029], [101726864, 101727013], [101728223, 101728292], [101733877, 101733997], [101735159, 101735234], [101735442, 101735549], [101736061, 101736155], [101742013, 101742112], [101742196, 101742317], [101747924, 101748031], [101753134, 101753239], [101755522, 101755690], [101756645, 101756777], [101756880, 101757001], [101757244, 101757301], [101759837, 101759960], [101760048, 101760140], [101762969, 101763039], [101763475, 101763577], [101776958, 101777032], [101795430, 101795572], [101797110, 101797247], [101828650, 101828725], [101844267, 101844405], [101881743, 101881935], [101890105, 101890273], [101910793, 101910925], [101936283, 101936370], [101944340, 101944445], [101944574, 101944717], [101997616, 101997771], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051516], [102068663, 102068706]] [[101707646, 101707840], [101710290, 101710408], [101712169, 101712319], [101714319, 101714470], [101717755, 101717913], [101720269, 101720385], [101721046, 101721179], [101725935, 101726029], [101726864, 101727013], [101728223, 101728292], [101733877, 101733997], [101735159, 101735234], [101735442, 101735549], [101736061, 101736155], [101742013, 101742112], [101742196, 101742317], [101747924, 101748031], [101753134, 101753239], [101755522, 101755690], [101756645, 101756777], [101756880, 101757001], [101757244, 101757301], [101759837, 101759960], [101760048, 101760140], [101762969, 101763039], [101763475, 101763577], [101776958, 101777032], [101795430, 101795572], [101797110, 101797247], [101828650, 101828725], [101844267, 101844405], [101881743, 101881935], [101890105, 101890273], [101910793, 101910925], [101936283, 101936370], [101944340, 101944445], [101944574, 101944717], [101997616, 101997771], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051477]]
ENST00000497170 [[101795093, 101795572], [101797110, 101797247], [101828650, 101828725], [101844267, 101844405], [101881743, 101881935], [101890105, 101890273], [101910793, 101910925], [101936283, 101936370], [101944340, 101944445], [101944574, 101944717], [101997651, 101997771], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051516], [102068663, 102068813]] None
ENST00000470333 [[101832723, 101833688], [101844267, 101844405], [101881743, 101881935], [101890105, 101890273], [101910793, 101910925], [101936283, 101936370], [101944340, 101944445], [101944574, 101944717], [101997616, 101997771], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051516], [102068786, 102068843]] None
ENST00000376196 [[101832748, 101833688], [101844267, 101844405], [101881743, 101881935], [101890105, 101890273], [101910793, 101910925], [101936283, 101936370], [101944340, 101944445], [101944574, 101944717], [101997616, 101997771], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051516], [102068663, 102068784]] [[101833445, 101833688], [101844267, 101844405], [101881743, 101881935], [101890105, 101890273], [101910793, 101910925], [101936283, 101936370], [101944340, 101944445], [101944574, 101944717], [101997616, 101997771], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051477]]
ENST00000467264 [[101768790, 101768943], [101769270, 101769357], [101776958, 101777032], [101795430, 101795572]] None
ENST00000376200 [[102020895, 102021349], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051505]] [[102021336, 102021349], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051477]]
NM_052867 [[101706129, 101707840], [101710290, 101710408], [101712169, 101712319], [101714319, 101714470], [101717755, 101717913], [101720269, 101720385], [101721046, 101721179], [101725935, 101726029], [101726864, 101727013], [101728223, 101728292], [101733877, 101733997], [101735159, 101735234], [101735442, 101735549], [101736061, 101736155], [101742013, 101742112], [101742196, 101742317], [101747924, 101748031], [101753134, 101753239], [101755522, 101755690], [101756645, 101756777], [101756880, 101757001], [101757244, 101757301], [101759837, 101759960], [101760048, 101760140], [101762969, 101763039], [101763475, 101763577], [101776958, 101777032], [101795430, 101795572], [101797110, 101797247], [101828650, 101828725], [101844267, 101844405], [101881743, 101881935], [101890105, 101890273], [101910793, 101910925], [101936283, 101936370], [101944340, 101944445], [101944574, 101944717], [101997616, 101997771], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051516], [102068663, 102068813]] [[101707646, 101707840], [101710290, 101710408], [101712169, 101712319], [101714319, 101714470], [101717755, 101717913], [101720269, 101720385], [101721046, 101721179], [101725935, 101726029], [101726864, 101727013], [101728223, 101728292], [101733877, 101733997], [101735159, 101735234], [101735442, 101735549], [101736061, 101736155], [101742013, 101742112], [101742196, 101742317], [101747924, 101748031], [101753134, 101753239], [101755522, 101755690], [101756645, 101756777], [101756880, 101757001], [101757244, 101757301], [101759837, 101759960], [101760048, 101760140], [101762969, 101763039], [101763475, 101763577], [101776958, 101777032], [101795430, 101795572], [101797110, 101797247], [101828650, 101828725], [101844267, 101844405], [101881743, 101881935], [101890105, 101890273], [101910793, 101910925], [101936283, 101936370], [101944340, 101944445], [101944574, 101944717], [101997616, 101997771], [102029050, 102029179], [102029267, 102029407], [102030920, 102031004], [102047533, 102047716], [102051369, 102051477]]
Promoter
Chrom Start End Description
chr13 102068713 102068727 CAGE_peak_2_at_NALCN_5end
chr13 102068737 102068746 CAGE_peak_5_at_NALCN_5end
chr13 102068752 102068763 CAGE_peak_3_at_NALCN_5end
chr13 102068769 102068779 CAGE_peak_4_at_NALCN_5end
chr13 102068792 102068865 CAGE_peak_1_at_NALCN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I101448 101448525 101457880 2.19 [{'connected_gene': 'ITGBL1', 'score': 560.55}, {'connected_gene': 'NALCN', 'score': 8.66}, {'connected_gene': 'HMGB3P7', 'score': 6.11}, {'connected_gene': 'FGF14', 'score': 5.22}, {'connected_gene': 'GC13M101537', 'score': 0.16}, {'connected_gene': 'GC13P101298', 'score': 0.1}, {'connected_gene': 'GC13P101277', 'score': 0.1}, {'connected_gene': 'GC13P101276', 'score': 0.1}]
chr13 GH13I101397 101397370 101399817 0.43 [{'connected_gene': 'ITGBL1', 'score': 9.88}, {'connected_gene': 'NALCN', 'score': 8.67}, {'connected_gene': 'GC13P101326', 'score': 0.19}, {'connected_gene': 'GC13P101330', 'score': 0.19}, {'connected_gene': 'GC13P101329', 'score': 0.19}, {'connected_gene': 'GC13P101328', 'score': 0.19}, {'connected_gene': 'GC13P101299', 'score': 0.15}, {'connected_gene': 'GC13P101298', 'score': 0.15}, {'connected_gene': 'GC13P101280', 'score': 0.13}, {'connected_gene': 'GC13P101279', 'score': 0.13}, {'connected_gene': 'GC13P101278', 'score': 0.13}, {'connected_gene': 'GC13P101277', 'score': 0.13}, {'connected_gene': 'GC13P101276', 'score': 0.13}]
chr13 GH13I101121 101121710 101121879 0.2 [{'connected_gene': 'TMTC4', 'score': 9.68}, {'connected_gene': 'GC13P101116', 'score': 0.44}, {'connected_gene': 'GC13P101155', 'score': 0.29}, {'connected_gene': 'GC13P101082', 'score': 0.28}, {'connected_gene': 'GC13P100867', 'score': 0.07}, {'connected_gene': 'NALCN', 'score': 0.06}, {'connected_gene': 'GC13P100660', 'score': 0.04}]
chr13 GH13I101119 101119709 101121602 0.38 [{'connected_gene': 'TMTC4', 'score': 9.68}, {'connected_gene': 'GC13P101116', 'score': 0.77}, {'connected_gene': 'GC13P101155', 'score': 0.29}, {'connected_gene': 'GC13P101082', 'score': 0.28}, {'connected_gene': 'GC13P100944', 'score': 0.1}, {'connected_gene': 'GC13P100867', 'score': 0.07}, {'connected_gene': 'NALCN', 'score': 0.06}, {'connected_gene': 'GC13P100660', 'score': 0.04}]
chr13 GH13I101529 101529050 101530503 0.83 [{'connected_gene': 'NALCN', 'score': 5.59}, {'connected_gene': 'FGF14', 'score': 4.66}, {'connected_gene': 'HMGB3P7', 'score': 4.53}, {'connected_gene': 'GC13M101537', 'score': 0.39}, {'connected_gene': 'ITGBL1', 'score': 0.18}, {'connected_gene': 'GC13P101298', 'score': 0.07}, {'connected_gene': 'GC13P101277', 'score': 0.07}, {'connected_gene': 'GC13P101276', 'score': 0.07}]
chr13 GH13I101416 101416000 101417295 1.72 [{'connected_gene': 'NALCN', 'score': 559.08}, {'connected_gene': 'GC13P101326', 'score': 0.16}, {'connected_gene': 'GC13P101330', 'score': 0.16}, {'connected_gene': 'GC13P101329', 'score': 0.16}, {'connected_gene': 'GC13P101328', 'score': 0.16}, {'connected_gene': 'GC13P101299', 'score': 0.13}, {'connected_gene': 'GC13P101298', 'score': 0.13}, {'connected_gene': 'GC13P101278', 'score': 0.11}, {'connected_gene': 'GC13P101277', 'score': 0.11}, {'connected_gene': 'GC13P101276', 'score': 0.11}]
chr13 GH13I101520 101520435 101522091 0.94 [{'connected_gene': 'RNU1-24P', 'score': 11.21}, {'connected_gene': 'FGF14', 'score': 9.08}, {'connected_gene': 'HMGB3P7', 'score': 6.76}, {'connected_gene': 'NALCN', 'score': 6.33}, {'connected_gene': 'GC13M101537', 'score': 0.34}, {'connected_gene': 'ITGBL1', 'score': 0.2}, {'connected_gene': 'GC13P101298', 'score': 0.07}, {'connected_gene': 'GC13P101277', 'score': 0.07}, {'connected_gene': 'GC13P101276', 'score': 0.07}]
chr13 GH13I101751 101751272 101752240 1.01 [{'connected_gene': 'RNU1-24P', 'score': 11.78}, {'connected_gene': 'HMGB3P7', 'score': 4.79}, {'connected_gene': 'TPP2', 'score': 4.67}, {'connected_gene': 'NALCN', 'score': 1.23}, {'connected_gene': 'GC13P101758', 'score': 0.44}, {'connected_gene': 'GC13M101719', 'score': 0.29}, {'connected_gene': 'FGF14', 'score': 0.03}]
chr13 GH13I101114 101114523 101117429 0.31 [{'connected_gene': 'GC13P101116', 'score': 550.77}, {'connected_gene': 'NALCN', 'score': 4.53}, {'connected_gene': 'GC13P101082', 'score': 0.29}, {'connected_gene': 'GC13P100938', 'score': 0.1}, {'connected_gene': 'GC13P100939', 'score': 0.1}, {'connected_gene': 'GC13P100944', 'score': 0.09}, {'connected_gene': 'GC13P100867', 'score': 0.07}, {'connected_gene': 'GC13P100660', 'score': 0.05}]
chr13 GH13I101305 101305755 101310613 0.54 [{'connected_gene': 'GC13M101290', 'score': 550.77}, {'connected_gene': 'NALCN', 'score': 4.61}, {'connected_gene': 'GC13P101299', 'score': 0.44}, {'connected_gene': 'GC13P101298', 'score': 0.44}, {'connected_gene': 'GC13P101300', 'score': 0.44}, {'connected_gene': 'GC13P101290', 'score': 0.37}, {'connected_gene': 'GC13P101280', 'score': 0.29}, {'connected_gene': 'GC13P101279', 'score': 0.29}, {'connected_gene': 'GC13P101278', 'score': 0.29}, {'connected_gene': 'GC13P101277', 'score': 0.29}, {'connected_gene': 'GC13P101276', 'score': 0.29}]
chr13 GH13I101167 101167834 101168149 0.22 [{'connected_gene': 'GC13P101168', 'score': 550.77}, {'connected_gene': 'GC13P101155', 'score': 0.39}, {'connected_gene': 'GC13P101116', 'score': 0.23}, {'connected_gene': 'GC13P101082', 'score': 0.17}, {'connected_gene': 'NALCN', 'score': 0.07}, {'connected_gene': 'GC13P100867', 'score': 0.06}, {'connected_gene': 'GC13P100660', 'score': 0.03}]
chr13 GH13I101257 101257652 101258958 1.17 [{'connected_gene': 'GC13P101274', 'score': 0.37}, {'connected_gene': 'GC13M101210', 'score': 0.34}, {'connected_gene': 'NALCN', 'score': 0.1}, {'connected_gene': 'GC13P100660', 'score': 0.03}]
chr13 GH13I101261 101261789 101264110 0.46 [{'connected_gene': 'GC13P101274', 'score': 0.39}, {'connected_gene': 'GC13M101210', 'score': 0.31}, {'connected_gene': 'NALCN', 'score': 0.1}, {'connected_gene': 'GC13P100660', 'score': 0.03}]
chr13 GH13I101251 101251819 101254239 0.38 [{'connected_gene': 'GC13M101210', 'score': 0.37}, {'connected_gene': 'GC13P101274', 'score': 0.34}, {'connected_gene': 'NALCN', 'score': 0.1}, {'connected_gene': 'GC13P100660', 'score': 0.03}]
chr13 GH13I101127 101127870 101127999 0.56 [{'connected_gene': 'GC13P101116', 'score': 0.39}, {'connected_gene': 'GC13P101155', 'score': 0.31}, {'connected_gene': 'GC13P101082', 'score': 0.25}, {'connected_gene': 'GC13P100867', 'score': 0.07}, {'connected_gene': 'NALCN', 'score': 0.06}, {'connected_gene': 'GC13P100660', 'score': 0.04}]
chr13 GH13I101267 101267252 101268376 0.4 [{'connected_gene': 'GC13P101274', 'score': 0.44}, {'connected_gene': 'GC13M101210', 'score': 0.29}, {'connected_gene': 'NALCN', 'score': 0.11}, {'connected_gene': 'GC13P100660', 'score': 0.03}]
chr13 GH13I101279 101279771 101281063 0.38 [{'connected_gene': 'GC13P101280', 'score': 0.77}, {'connected_gene': 'GC13P101279', 'score': 0.77}, {'connected_gene': 'GC13P101278', 'score': 0.77}, {'connected_gene': 'GC13P101277', 'score': 0.77}, {'connected_gene': 'GC13P101276', 'score': 0.77}, {'connected_gene': 'GC13P101274', 'score': 0.44}, {'connected_gene': 'GC13P101290', 'score': 0.39}, {'connected_gene': 'NALCN', 'score': 0.12}, {'connected_gene': 'GC13P100660', 'score': 0.03}]
chr13 GH13I101286 101286704 101286791 0.22 [{'connected_gene': 'GC13P101290', 'score': 0.77}, {'connected_gene': 'GC13P101280', 'score': 0.39}, {'connected_gene': 'GC13P101279', 'score': 0.39}, {'connected_gene': 'GC13P101278', 'score': 0.39}, {'connected_gene': 'GC13P101277', 'score': 0.39}, {'connected_gene': 'GC13P101276', 'score': 0.39}, {'connected_gene': 'NALCN', 'score': 0.12}, {'connected_gene': 'GC13P100660', 'score': 0.03}]
chr13 GH13I101210 101210993 101211945 0.54 [{'connected_gene': 'GC13M101210', 'score': 0.34}, {'connected_gene': 'GC13P101168', 'score': 0.26}, {'connected_gene': 'GC13P101155', 'score': 0.22}, {'connected_gene': 'NALCN', 'score': 0.08}, {'connected_gene': 'GC13P100660', 'score': 0.03}]

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