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
ENST00000294189 [[52027615, 52028142], [52029057, 52029122], [52029440, 52029485], [52029872, 52029958]] [[52027764, 52028142], [52029057, 52029122], [52029440, 52029477]]
ENST00000466397 [[52027643, 52028142], [52029057, 52029122], [52029440, 52029485], [52029746, 52029879]] [[52027764, 52028142], [52029057, 52029122], [52029440, 52029477]]
ENST00000480306 [[52027643, 52028142], [52028788, 52028873], [52029057, 52029122], [52029440, 52029485], [52029872, 52029897]] [[52028861, 52028873], [52029057, 52029122], [52029440, 52029477]]
ENST00000479017 [[52027644, 52028142], [52029057, 52029122], [52029440, 52029485], [52029784, 52029846]] [[52027764, 52028142], [52029057, 52029122], [52029440, 52029477]]
ENST00000495383 [[52027644, 52028142], [52029057, 52029122], [52029440, 52029485], [52029755, 52029860]] [[52027764, 52028142], [52029057, 52029122], [52029440, 52029477]]
ENST00000475248 [[52027738, 52028142], [52029057, 52029122], [52029440, 52029485], [52029794, 52029831]] [[52027764, 52028142], [52029057, 52029122], [52029440, 52029477]]
ENST00000492277 [[52027765, 52028142], [52029057, 52029122], [52029440, 52029485], [52029780, 52029830]] [[52027765, 52028142], [52029057, 52029122], [52029440, 52029477]]
ENST00000481629 [[52028312, 52029122], [52029440, 52029485], [52029872, 52029897]] [[52028976, 52029122], [52029440, 52029477]]
ENST00000486565 [[52028950, 52029485], [52029872, 52029911]] None
NM_000992 [[52027643, 52028142], [52029057, 52029122], [52029440, 52029485], [52029872, 52029958]] [[52027764, 52028142], [52029057, 52029122], [52029440, 52029477]]
Promoter
Chrom Start End Description
chr3 52029900 52029941 CAGE_peak_1_at_RPL29_5end
chr3 52029945 52029956 CAGE_peak_3_at_RPL29_5end
chr3 52029958 52029974 CAGE_peak_2_at_RPL29_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I051980 51980789 51987619 2.27 [{'connected_gene': 'ABHD14B', 'score': 550.77}, {'connected_gene': 'ACY1', 'score': 550.77}, {'connected_gene': 'GPR62', 'score': 15.16}, {'connected_gene': 'PARP3', 'score': 7.59}, {'connected_gene': 'RPL29', 'score': 5.93}, {'connected_gene': 'ABHD14A-ACY1', 'score': 0.44}, {'connected_gene': 'ABHD14A', 'score': 0.39}]
chr3 GH03I052427 52427966 52431115 1.51 [{'connected_gene': 'TNNC1', 'score': 12.9}, {'connected_gene': 'NISCH', 'score': 12.88}, {'connected_gene': 'MIR135A1', 'score': 10.52}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.52}, {'connected_gene': 'WDR82', 'score': 10.51}, {'connected_gene': 'GLYCTK', 'score': 10.51}, {'connected_gene': 'GNL3', 'score': 9.58}, {'connected_gene': 'SNORD69', 'score': 9.58}, {'connected_gene': 'PBRM1', 'score': 9.44}, {'connected_gene': 'NT5DC2', 'score': 6.83}, {'connected_gene': 'RPL29', 'score': 4.6}, {'connected_gene': 'LOC105377091', 'score': 0.39}, {'connected_gene': 'PHF7', 'score': 0.37}]
chr3 GH03I052528 52528844 52538461 2.47 [{'connected_gene': 'NT5DC2', 'score': 574.71}, {'connected_gene': 'SMIM4', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 24.41}, {'connected_gene': 'STAB1', 'score': 17.75}, {'connected_gene': 'ITIH4', 'score': 15.34}, {'connected_gene': 'ITIH1', 'score': 5.3}, {'connected_gene': 'GNL3', 'score': 5.14}, {'connected_gene': 'NEK4', 'score': 4.29}, {'connected_gene': 'RPL29', 'score': 4.15}, {'connected_gene': 'PIR41495', 'score': 0.44}]
chr3 GH03I052458 52458392 52459186 0.43 [{'connected_gene': 'NT5DC2', 'score': 21.17}, {'connected_gene': 'STAB1', 'score': 11.54}, {'connected_gene': 'SMIM4', 'score': 11.22}, {'connected_gene': 'PBRM1', 'score': 10.21}, {'connected_gene': 'GNL3', 'score': 10.21}, {'connected_gene': 'ENSG00000222345', 'score': 10.21}, {'connected_gene': 'SNORD69', 'score': 10.21}, {'connected_gene': 'SNORD19B', 'score': 10.21}, {'connected_gene': 'SNORD19', 'score': 10.21}, {'connected_gene': 'ENSG00000252787', 'score': 10.21}, {'connected_gene': 'GLYCTK-AS1', 'score': 10.21}, {'connected_gene': 'MIR135A1', 'score': 10.2}, {'connected_gene': 'WDR82', 'score': 10.2}, {'connected_gene': 'GLYCTK', 'score': 10.2}, {'connected_gene': 'RPL29', 'score': 4.82}, {'connected_gene': 'NISCH', 'score': 0.77}, {'connected_gene': 'PIR37247', 'score': 0.31}]
chr3 GH03I052043 52043617 52043760 0.2 [{'connected_gene': 'RPL29', 'score': 11.76}, {'connected_gene': 'PCBP4', 'score': 11.02}, {'connected_gene': 'GPR62', 'score': 10.37}, {'connected_gene': 'LOC105377089', 'score': 0.77}, {'connected_gene': 'LOC105377088', 'score': 0.44}]
chr3 GH03I052041 52041001 52041600 0.72 [{'connected_gene': 'RPL29', 'score': 11.76}, {'connected_gene': 'PCBP4', 'score': 11.02}, {'connected_gene': 'GPR62', 'score': 10.37}, {'connected_gene': 'LOC105377089', 'score': 0.77}, {'connected_gene': 'LOC105377088', 'score': 0.44}]
chr3 GH03I052042 52040825 52040954 0.31 [{'connected_gene': 'RPL29', 'score': 11.78}, {'connected_gene': 'PCBP4', 'score': 11.02}, {'connected_gene': 'GPR62', 'score': 10.37}, {'connected_gene': 'LOC105377088', 'score': 0.77}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I052039 52038324 52038520 0.2 [{'connected_gene': 'RPL29', 'score': 11.78}, {'connected_gene': 'PCBP4', 'score': 11.02}, {'connected_gene': 'GPR62', 'score': 10.38}, {'connected_gene': 'LOC105377088', 'score': 0.77}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I052045 52039014 52039431 0.38 [{'connected_gene': 'RPL29', 'score': 11.78}, {'connected_gene': 'PCBP4', 'score': 11.02}, {'connected_gene': 'GPR62', 'score': 10.38}, {'connected_gene': 'LOC105377088', 'score': 0.77}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I051994 51994047 51996554 2.09 [{'connected_gene': 'RPL29', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 37.11}, {'connected_gene': 'RRP9', 'score': 32.57}, {'connected_gene': 'RAD54L2', 'score': 21.59}, {'connected_gene': 'ABHD14B', 'score': 13.81}, {'connected_gene': 'NISCH', 'score': 11.12}, {'connected_gene': 'GNL3', 'score': 9.69}, {'connected_gene': 'PARP3', 'score': 6.4}, {'connected_gene': 'NT5DC2', 'score': 6.05}]
chr3 GH03I052136 52136196 52137141 0.58 [{'connected_gene': 'RPL29', 'score': 6.2}, {'connected_gene': 'POC1A', 'score': 0.37}, {'connected_gene': 'LINC00696', 'score': 0.19}]
chr3 GH03I052001 52001390 52002126 1.3 [{'connected_gene': 'RPL29', 'score': 0.44}, {'connected_gene': 'GC03P052016', 'score': 0.39}]
chr3 GH03I052003 52003928 52006599 1.15 [{'connected_gene': 'PBRM1', 'score': 13.33}, {'connected_gene': 'RRP9', 'score': 11.39}, {'connected_gene': 'GPR62', 'score': 4.7}, {'connected_gene': 'RPL29', 'score': 0.44}, {'connected_gene': 'GC03P052016', 'score': 0.39}]
chr3 GH03I051684 51684429 51688032 1.2 [{'connected_gene': 'TEX264', 'score': 17.43}, {'connected_gene': 'DCAF1', 'score': 14.53}, {'connected_gene': 'RNU6ATAC29P', 'score': 10.83}, {'connected_gene': 'IQCF6', 'score': 10.19}, {'connected_gene': 'RPL29', 'score': 7.21}, {'connected_gene': 'RNA5SP132', 'score': 0.44}, {'connected_gene': 'PIR41340', 'score': 0.37}]
chr3 GH03I051559 51559257 51560194 0.43 [{'connected_gene': 'TEX264', 'score': 14.27}, {'connected_gene': 'RPL29', 'score': 4.13}, {'connected_gene': 'GC03P051541', 'score': 0.37}, {'connected_gene': 'RAD54L2', 'score': 0.34}, {'connected_gene': 'GC03M051578', 'score': 0.28}]
chr3 GH03I052840 52840099 52843739 1 [{'connected_gene': 'ITIH4', 'score': 45.13}, {'connected_gene': 'RFT1', 'score': 15.81}, {'connected_gene': 'ITIH1', 'score': 4.82}, {'connected_gene': 'GLYCTK', 'score': 4.58}, {'connected_gene': 'RPL29', 'score': 3.68}, {'connected_gene': 'PIR43341', 'score': 0.77}, {'connected_gene': 'MIR8064', 'score': 0.77}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 0.22}, {'connected_gene': 'STIMATE', 'score': 0.22}]
chr3 GH03I052044 52044628 52058616 2.78 [{'connected_gene': 'DUSP7', 'score': 561.07}, {'connected_gene': 'DCAF1', 'score': 24.9}, {'connected_gene': 'GPR62', 'score': 23.38}, {'connected_gene': 'RAD54L2', 'score': 19.36}, {'connected_gene': 'PHF7', 'score': 14.38}, {'connected_gene': 'NT5DC2', 'score': 13.65}, {'connected_gene': 'RPL29', 'score': 12.2}, {'connected_gene': 'PCBP4', 'score': 10.99}, {'connected_gene': 'WDR82', 'score': 10.3}, {'connected_gene': 'SFMBT1', 'score': 10.08}, {'connected_gene': 'NISCH', 'score': 9.77}, {'connected_gene': 'TWF2', 'score': 1.92}, {'connected_gene': 'ACY1', 'score': 1.61}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I052104 52104430 52106172 0.31 [{'connected_gene': 'DUSP7', 'score': 12.91}, {'connected_gene': 'RPL29', 'score': 10.38}, {'connected_gene': 'WDR82', 'score': 9.39}, {'connected_gene': 'LINC00696', 'score': 0.26}, {'connected_gene': 'POC1A', 'score': 0.25}]
chr3 GH03I052243 52243437 52248334 2.45 [{'connected_gene': 'PPM1M', 'score': 568.16}, {'connected_gene': 'PBRM1', 'score': 18.78}, {'connected_gene': 'LOC101929054', 'score': 16.73}, {'connected_gene': 'GLYCTK', 'score': 16.24}, {'connected_gene': 'IQCF2', 'score': 14.8}, {'connected_gene': 'IQCF5', 'score': 14.46}, {'connected_gene': 'PHF7', 'score': 14.39}, {'connected_gene': 'IQCF6', 'score': 13.91}, {'connected_gene': 'IQCF1', 'score': 13.7}, {'connected_gene': 'WDR82', 'score': 13.64}, {'connected_gene': 'MIR135A1', 'score': 11.7}, {'connected_gene': 'GLYCTK-AS1', 'score': 11.69}, {'connected_gene': 'MUSTN1', 'score': 4.88}, {'connected_gene': 'RPL29', 'score': 4.6}, {'connected_gene': 'GLT8D1', 'score': 1.88}, {'connected_gene': 'DNAH1', 'score': 1.81}, {'connected_gene': 'TWF2', 'score': 1.7}, {'connected_gene': 'GC03M052258', 'score': 0.39}, {'connected_gene': 'GC03M052257', 'score': 0.39}, {'connected_gene': 'PIR61179', 'score': 0.39}]
chr3 GH03I052274 52274220 52291489 2.5 [{'connected_gene': 'GLYCTK', 'score': 568.52}, {'connected_gene': 'WDR82', 'score': 550.44}, {'connected_gene': 'LOC101929054', 'score': 28.2}, {'connected_gene': 'PPM1M', 'score': 28.18}, {'connected_gene': 'TWF2', 'score': 23.58}, {'connected_gene': 'ITIH4', 'score': 20.35}, {'connected_gene': 'PBRM1', 'score': 19.2}, {'connected_gene': 'ENSG00000173366', 'score': 11.39}, {'connected_gene': 'TLR9', 'score': 11.37}, {'connected_gene': 'SEMA3G', 'score': 10.74}, {'connected_gene': 'NT5DC2', 'score': 8.65}, {'connected_gene': 'RPL29', 'score': 4.61}, {'connected_gene': 'ITIH3', 'score': 4.47}, {'connected_gene': 'RFT1', 'score': 4.37}, {'connected_gene': 'NEK4', 'score': 4.18}, {'connected_gene': 'GC03P052278', 'score': 0.77}, {'connected_gene': 'GC03M052276', 'score': 0.44}, {'connected_gene': 'GC03M052275', 'score': 0.44}, {'connected_gene': 'GLYCTK-AS1', 'score': 0.37}]
chr3 GH03I052040 52039493 52040613 1.45 [{'connected_gene': 'GPR62', 'score': 19.88}, {'connected_gene': 'RPL29', 'score': 11.78}, {'connected_gene': 'PCBP4', 'score': 11.02}, {'connected_gene': 'LOC105377088', 'score': 0.77}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I051955 51955129 51957143 1.44 [{'connected_gene': 'GPR62', 'score': 554.83}, {'connected_gene': 'RPL29', 'score': 33.15}, {'connected_gene': 'NISCH', 'score': 14.95}, {'connected_gene': 'GLT8D1', 'score': 14.31}, {'connected_gene': 'RAD54L2', 'score': 12.13}, {'connected_gene': 'NT5DC2', 'score': 9.55}, {'connected_gene': 'PARP3', 'score': 6.3}, {'connected_gene': 'GC03P051963', 'score': 0.44}]
chr3 GH03I051990 51990845 51993878 0.77 [{'connected_gene': 'GPR62', 'score': 11.32}, {'connected_gene': 'DUSP7', 'score': 10.96}, {'connected_gene': 'RAD54L2', 'score': 10.55}, {'connected_gene': 'PARP3', 'score': 6.67}, {'connected_gene': 'RPL29', 'score': 6.33}, {'connected_gene': 'ABHD14B', 'score': 4.36}, {'connected_gene': 'RBM15B', 'score': 3.57}]
chr3 GH03I052038 52037839 52038104 0.31 [{'connected_gene': 'LOC105377088', 'score': 550.77}, {'connected_gene': 'RPL29', 'score': 11.78}, {'connected_gene': 'PCBP4', 'score': 11.02}, {'connected_gene': 'GPR62', 'score': 10.38}, {'connected_gene': 'ITIH4', 'score': 4.13}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I052037 52037463 52037588 0.49 [{'connected_gene': 'LOC105377088', 'score': 550.77}, {'connected_gene': 'RPL29', 'score': 11.78}, {'connected_gene': 'PCBP4', 'score': 11.02}, {'connected_gene': 'GPR62', 'score': 10.38}, {'connected_gene': 'LOC105377089', 'score': 0.44}]
chr3 GH03I051940 51940694 51943929 2.05 [{'connected_gene': 'PARP3', 'score': 559.63}, {'connected_gene': 'RRP9', 'score': 550.77}, {'connected_gene': 'ABHD14A', 'score': 10.22}, {'connected_gene': 'RPL29', 'score': 7.02}, {'connected_gene': 'ENSG00000280422', 'score': 0.39}]
chr3 GH03I052011 52011972 52018358 0.66 [{'connected_gene': 'GC03P052016', 'score': 550.77}, {'connected_gene': 'NT5DC2', 'score': 8.63}, {'connected_gene': 'GPR62', 'score': 7.14}, {'connected_gene': 'RPL29', 'score': 0.37}]

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