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
ENST00000465229 [[37766974, 37767502], [37780271, 37780877], [37783910, 37784060], [37784717, 37785058]] [[37780856, 37780877], [37783910, 37784060], [37784717, 37785041]]
ENST00000327304 [[37779710, 37780877], [37781982, 37782134], [37783910, 37784060], [37784717, 37785054]] [[37780675, 37780877], [37781982, 37782134], [37783910, 37784060], [37784717, 37785041]]
ENST00000490516 [[37780584, 37780877], [37783910, 37784060], [37784380, 37784710]] None
ENST00000396521 [[37780603, 37780877], [37783910, 37784060], [37784717, 37785061]] [[37780856, 37780877], [37783910, 37784060], [37784717, 37785041]]
ENST00000489414 [[37780687, 37780877], [37781982, 37782134], [37783910, 37784060], [37800663, 37800706]] None
ENST00000482614 [[37780802, 37780877], [37781982, 37782134], [37783910, 37784060], [37801349, 37801434]] None
ENST00000465860 [[37781800, 37782134], [37783910, 37784060], [37784717, 37784742]] None
ENST00000496910 [[37783868, 37784060], [37784717, 37784742]] None
NM_016042 [[37779710, 37780877], [37781982, 37782134], [37783910, 37784060], [37784717, 37785089]] [[37780675, 37780877], [37781982, 37782134], [37783910, 37784060], [37784717, 37785041]]
NM_001002269 [[37779710, 37780877], [37783910, 37784060], [37784717, 37785089]] [[37780856, 37780877], [37783910, 37784060], [37784717, 37785041]]
Promoter
Chrom Start End Description
chr9 37784893 37784904 CAGE_peak_4_at_EXOSC3_5end
chr9 37785017 37785032 CAGE_peak_2_at_EXOSC3_5end
chr9 37785037 37785079 CAGE_peak_1_at_EXOSC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I037463 37463345 37469184 2.28 [{'connected_gene': 'ZBTB5', 'score': 574.67}, {'connected_gene': 'DCAF10', 'score': 40.25}, {'connected_gene': 'EXOSC3', 'score': 40.2}, {'connected_gene': 'ZCCHC7', 'score': 31.65}, {'connected_gene': 'RPL21P83', 'score': 15.18}, {'connected_gene': 'RNF38', 'score': 12.37}, {'connected_gene': 'TRMT10B', 'score': 12.04}, {'connected_gene': 'GRHPR', 'score': 11.35}, {'connected_gene': 'TMX2P1', 'score': 11.23}, {'connected_gene': 'POLR1E', 'score': 10.12}, {'connected_gene': 'KCTD9P3', 'score': 0.39}]
chr9 GH09I037412 37411344 37411493 0.99 [{'connected_gene': 'ZBTB5', 'score': 23.17}, {'connected_gene': 'EXOSC3', 'score': 18.49}, {'connected_gene': 'DCAF10', 'score': 16.81}, {'connected_gene': 'ZCCHC7', 'score': 16.66}, {'connected_gene': 'GRHPR', 'score': 0.39}, {'connected_gene': 'LINC01627', 'score': 0.37}, {'connected_gene': 'LOC105376035', 'score': 0.25}]
chr9 GH09I037902 37902074 37905473 2.31 [{'connected_gene': 'SLC25A51', 'score': 550.77}, {'connected_gene': 'ZCCHC7', 'score': 16.42}, {'connected_gene': 'TRMT10B', 'score': 12.75}, {'connected_gene': 'TMX2P1', 'score': 11.53}, {'connected_gene': 'EXOSC3', 'score': 10.49}, {'connected_gene': 'POLR1E', 'score': 9.95}, {'connected_gene': 'PIR53315', 'score': 0.39}, {'connected_gene': 'PAICSP1', 'score': 0.31}, {'connected_gene': 'GC09M038093', 'score': 0.18}, {'connected_gene': 'ENSG00000255872', 'score': 0.1}]
chr9 GH09I036928 36928864 36929013 1.08 [{'connected_gene': 'ZCCHC7', 'score': 17.74}, {'connected_gene': 'EXOSC3', 'score': 12.97}, {'connected_gene': 'HMGB3P24', 'score': 10.64}, {'connected_gene': 'DCAF10', 'score': 10.48}, {'connected_gene': 'MIR4476', 'score': 0.28}, {'connected_gene': 'LOC105376032', 'score': 0.19}, {'connected_gene': 'PAX5', 'score': 0.14}]
chr9 GH09I037692 37692244 37693981 0.63 [{'connected_gene': 'ZCCHC7', 'score': 21.53}, {'connected_gene': 'FRMPD1', 'score': 20.43}, {'connected_gene': 'EXOSC3', 'score': 12.33}, {'connected_gene': 'DCAF10', 'score': 12.31}, {'connected_gene': 'ZBTB5', 'score': 10.73}, {'connected_gene': 'POLR1E', 'score': 10.09}, {'connected_gene': 'RPL21P83', 'score': 6.58}, {'connected_gene': 'GC09M037661', 'score': 0.29}, {'connected_gene': 'RN7SKP171', 'score': 0.29}, {'connected_gene': 'TRMT10B', 'score': 0.21}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037119 37119529 37122233 2.3 [{'connected_gene': 'ZCCHC7', 'score': 583.21}, {'connected_gene': 'LOC105376034', 'score': 550.77}, {'connected_gene': 'EXOSC3', 'score': 30.61}, {'connected_gene': 'DCAF10', 'score': 16.79}, {'connected_gene': 'TRMT10B', 'score': 13.12}, {'connected_gene': 'ZBTB5', 'score': 12.77}, {'connected_gene': 'HMGB3P24', 'score': 10.6}, {'connected_gene': 'GC09P037160', 'score': 0.28}]
chr9 GH09I037798 37798386 37799470 0.46 [{'connected_gene': 'DCAF10', 'score': 550.77}, {'connected_gene': 'LOC105376037', 'score': 550.77}, {'connected_gene': 'SLC25A51', 'score': 9.55}, {'connected_gene': 'EXOSC3', 'score': 0.77}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I037949 37949405 37955672 1.63 [{'connected_gene': 'SHB', 'score': 18.75}, {'connected_gene': 'SLC25A51', 'score': 10.76}, {'connected_gene': 'ENSG00000255872', 'score': 10.76}, {'connected_gene': 'ALDH1B1', 'score': 9.5}, {'connected_gene': 'EXOSC3', 'score': 5.03}, {'connected_gene': 'RNU7-124P', 'score': 0.37}, {'connected_gene': 'GC09M038093', 'score': 0.31}]
chr9 GH09I037941 37941668 37946547 1.27 [{'connected_gene': 'SHB', 'score': 19.04}, {'connected_gene': 'SLC25A51', 'score': 10.99}, {'connected_gene': 'ENSG00000255872', 'score': 10.52}, {'connected_gene': 'TMX2P1', 'score': 7.27}, {'connected_gene': 'EXOSC3', 'score': 4.63}, {'connected_gene': 'RNU7-124P', 'score': 0.44}, {'connected_gene': 'GC09M038093', 'score': 0.28}]
chr9 GH09I037960 37960387 37962461 0.31 [{'connected_gene': 'SHB', 'score': 18.51}, {'connected_gene': 'RNU7-124P', 'score': 11.63}, {'connected_gene': 'ENSG00000255872', 'score': 10.69}, {'connected_gene': 'EXOSC3', 'score': 4.65}, {'connected_gene': 'GC09M038093', 'score': 0.37}]
chr9 GH09I038014 38014670 38021193 1.45 [{'connected_gene': 'SHB', 'score': 19.62}, {'connected_gene': 'TMX2P1', 'score': 16.97}, {'connected_gene': 'ENSG00000255872', 'score': 11.66}, {'connected_gene': 'RNU7-124P', 'score': 11.61}, {'connected_gene': 'SLC25A51', 'score': 10.51}, {'connected_gene': 'ALDH1B1', 'score': 9.75}, {'connected_gene': 'EXOSC3', 'score': 4.7}, {'connected_gene': 'GC09M038093', 'score': 0.28}, {'connected_gene': 'GC09P038069', 'score': 0.23}]
chr9 GH09I037485 37485062 37488539 2.21 [{'connected_gene': 'POLR1E', 'score': 580.95}, {'connected_gene': 'RPL21P83', 'score': 44.65}, {'connected_gene': 'ZCCHC7', 'score': 27.91}, {'connected_gene': 'EXOSC3', 'score': 23.7}, {'connected_gene': 'ZBTB5', 'score': 16.41}, {'connected_gene': 'FBXO10', 'score': 16.31}, {'connected_gene': 'ENSG00000234160', 'score': 12.54}, {'connected_gene': 'DCAF10', 'score': 11.04}, {'connected_gene': 'TOMM5', 'score': 10.79}, {'connected_gene': 'ENSG00000256966', 'score': 10.79}, {'connected_gene': 'TMX2P1', 'score': 9.83}, {'connected_gene': 'FRMPD1', 'score': 9.74}, {'connected_gene': 'GRHPR', 'score': 8.88}, {'connected_gene': 'GC09M037494', 'score': 0.77}]
chr9 GH09I038175 38175604 38177083 0.69 [{'connected_gene': 'EXOSC3', 'score': 32.79}, {'connected_gene': 'ZBTB5', 'score': 32.09}, {'connected_gene': 'DCAF10', 'score': 30.13}, {'connected_gene': 'TRMT10B', 'score': 25.31}, {'connected_gene': 'ENSG00000200026', 'score': 11.8}, {'connected_gene': 'TMX2P1', 'score': 11.25}, {'connected_gene': 'RPL21P83', 'score': 10.11}, {'connected_gene': 'POLR1E', 'score': 9.69}, {'connected_gene': 'PIR59956', 'score': 0.77}, {'connected_gene': 'PIR60591', 'score': 0.37}]
chr9 GH09I037783 37783831 37786097 2.06 [{'connected_gene': 'EXOSC3', 'score': 561.77}, {'connected_gene': 'PIR35842', 'score': 550.77}, {'connected_gene': 'GC09P037787', 'score': 550.77}, {'connected_gene': 'ZCCHC7', 'score': 11.98}, {'connected_gene': 'DCAF10', 'score': 11.35}, {'connected_gene': 'SLC25A51', 'score': 10.63}, {'connected_gene': 'TMX2P1', 'score': 9.93}, {'connected_gene': 'PIR54823', 'score': 0.77}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I037799 37799682 37802575 2.14 [{'connected_gene': 'EXOSC3', 'score': 579.34}, {'connected_gene': 'DCAF10', 'score': 561.97}, {'connected_gene': 'TRMT10B', 'score': 34.5}, {'connected_gene': 'ZBTB5', 'score': 30.73}, {'connected_gene': 'ZCCHC7', 'score': 23.66}, {'connected_gene': 'POLR1E', 'score': 20.02}, {'connected_gene': 'SLC25A51', 'score': 13.16}, {'connected_gene': 'TMX2P1', 'score': 11.37}, {'connected_gene': 'RPL21P83', 'score': 10.14}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I038021 38021752 38029289 1.38 [{'connected_gene': 'EXOSC3', 'score': 27.3}, {'connected_gene': 'SHB', 'score': 19.21}, {'connected_gene': 'TMX2P1', 'score': 18.47}, {'connected_gene': 'DCAF10', 'score': 16.83}, {'connected_gene': 'SLC25A51', 'score': 16.74}, {'connected_gene': 'ZCCHC7', 'score': 16.62}, {'connected_gene': 'ZBTB5', 'score': 12.75}, {'connected_gene': 'ENSG00000255872', 'score': 12.39}, {'connected_gene': 'RNU7-124P', 'score': 11.6}, {'connected_gene': 'GC09M038093', 'score': 0.26}, {'connected_gene': 'GC09P038069', 'score': 0.26}]
chr9 GH09I037026 37026011 37038375 2.26 [{'connected_gene': 'PAX5', 'score': 573.67}, {'connected_gene': 'DCAF10', 'score': 16.92}, {'connected_gene': 'ZCCHC7', 'score': 16.56}, {'connected_gene': 'EXOSC3', 'score': 10.25}, {'connected_gene': 'POLR1E', 'score': 9.8}, {'connected_gene': 'LOC105376032', 'score': 5.76}, {'connected_gene': 'ZBTB5', 'score': 2.01}, {'connected_gene': 'LOC105376031', 'score': 0.77}]
chr9 GH09I037590 37590671 37593213 2.09 [{'connected_gene': 'TOMM5', 'score': 557.21}, {'connected_gene': 'ENSG00000256966', 'score': 550.77}, {'connected_gene': 'ZCCHC7', 'score': 27.9}, {'connected_gene': 'EXOSC3', 'score': 23.72}, {'connected_gene': 'DCAF10', 'score': 11.06}, {'connected_gene': 'TMX2P1', 'score': 9.84}, {'connected_gene': 'POLR1E', 'score': 9.09}, {'connected_gene': 'GC09P037586', 'score': 0.44}, {'connected_gene': 'ENSG00000255872', 'score': 0.04}]
chr9 GH09I038619 38619629 38621601 1.99 [{'connected_gene': 'ANKRD18A', 'score': 562.86}, {'connected_gene': 'FAM201A', 'score': 558.52}, {'connected_gene': 'TRMT10B', 'score': 14.06}, {'connected_gene': 'EXOSC3', 'score': 10.64}]
chr9 GH09I037706 37706002 37706962 0.6 [{'connected_gene': 'FRMPD1', 'score': 24.86}, {'connected_gene': 'ZCCHC7', 'score': 13.24}, {'connected_gene': 'ZBTB5', 'score': 12.9}, {'connected_gene': 'DCAF10', 'score': 11.36}, {'connected_gene': 'TMX2P1', 'score': 11.28}, {'connected_gene': 'EXOSC3', 'score': 10.71}, {'connected_gene': 'RPL21P83', 'score': 10.16}, {'connected_gene': 'GC09M037661', 'score': 0.26}, {'connected_gene': 'RN7SKP171', 'score': 0.26}, {'connected_gene': 'TRMT10B', 'score': 0.25}, {'connected_gene': 'ENSG00000255872', 'score': 0.05}]
chr9 GH09I037753 37753184 37754703 1.93 [{'connected_gene': 'TRMT10B', 'score': 565.4}, {'connected_gene': 'TMX2P1', 'score': 24.65}, {'connected_gene': 'SLC25A51', 'score': 13.1}, {'connected_gene': 'ZCCHC7', 'score': 13.02}, {'connected_gene': 'POLR1E', 'score': 11.34}, {'connected_gene': 'DCAF10', 'score': 10.86}, {'connected_gene': 'ZBTB5', 'score': 10.51}, {'connected_gene': 'EXOSC3', 'score': 10.31}, {'connected_gene': 'GC09M037773', 'score': 0.37}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I037773 37773122 37773293 0.3 [{'connected_gene': 'GC09M037773', 'score': 550.77}, {'connected_gene': 'TRMT10B', 'score': 13.27}, {'connected_gene': 'SLC25A51', 'score': 13.13}, {'connected_gene': 'ALDH1B1', 'score': 9.41}, {'connected_gene': 'FRMPD1', 'score': 3.48}, {'connected_gene': 'PIR39153', 'score': 0.77}, {'connected_gene': 'EXOSC3', 'score': 0.31}, {'connected_gene': 'ENSG00000255872', 'score': 0.06}]
chr9 GH09I037079 37079024 37081308 1.56 [{'connected_gene': 'ENSG00000260100', 'score': 550.77}, {'connected_gene': 'EBLN3P', 'score': 550.77}, {'connected_gene': 'ZCCHC7', 'score': 16.52}, {'connected_gene': 'EXOSC3', 'score': 13.68}, {'connected_gene': 'TRMT10B', 'score': 13.12}, {'connected_gene': 'HMGB3P24', 'score': 11.46}, {'connected_gene': 'DCAF10', 'score': 10.65}, {'connected_gene': 'LOC105376034', 'score': 0.28}]

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