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
ENST00000238477 [[101978707, 101981118], [101983260, 101983419], [101983828, 101984224]] [[101983350, 101983419], [101983828, 101984176]]
ENST00000476832 [[101979648, 101981118], [101983828, 101984238]] [[101980215, 101981118], [101983828, 101984176]]
ENST00000319033 [[101979651, 101981118], [101983260, 101983329]] [[101980215, 101981118], [101983260, 101983329]]
NR_024532 [[101978706, 101981118], [101983260, 101983419], [101983828, 101984246]] None
NM_033087 [[101978706, 101981118], [101983828, 101984246]] [[101980215, 101981118], [101983828, 101984176]]
Promoter
Chrom Start End Description
chr9 101984184 101984237 CAGE_peak_1_at_ALG2_5end
chr9 101984253 101984274 CAGE_peak_2_at_ALG2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I099430 99430124 99431795 0.8 [{'connected_gene': 'ALG2', 'score': 4.49}, {'connected_gene': 'NR4A3', 'score': 3.45}, {'connected_gene': 'NAMA', 'score': 0.23}, {'connected_gene': 'ENSG00000234860', 'score': 0.15}]
chr9 GH09I099597 99597204 99597356 0.22 [{'connected_gene': 'NR4A3', 'score': 3.94}, {'connected_gene': 'ALG2', 'score': 3.09}, {'connected_gene': 'ENSG00000234860', 'score': 0.2}, {'connected_gene': 'GC09M099818', 'score': 0.07}, {'connected_gene': 'LOC101928438', 'score': 0.07}]
chr9 GH09I099257 99257443 99260858 1.5 [{'connected_gene': 'INVS', 'score': 13.18}, {'connected_gene': 'SEC61B', 'score': 11.84}, {'connected_gene': 'ALG2', 'score': 11.84}, {'connected_gene': 'STX17', 'score': 11.6}, {'connected_gene': 'KRT8P11', 'score': 4.86}, {'connected_gene': 'GC09P099237', 'score': 0.34}, {'connected_gene': 'RN7SKP225', 'score': 0.34}]
chr9 GH09I099167 99167879 99167968 0.38 [{'connected_gene': 'SEC61B', 'score': 11.25}, {'connected_gene': 'ALG2', 'score': 11.25}, {'connected_gene': 'TGFBR1', 'score': 4.98}, {'connected_gene': 'LOC105376174', 'score': 0.37}, {'connected_gene': 'GC09M099146', 'score': 0.34}, {'connected_gene': 'RNA5SP290', 'score': 0.34}]
chr9 GH09I099175 99175895 99177470 0.43 [{'connected_gene': 'SEC61B', 'score': 10.7}, {'connected_gene': 'ALG2', 'score': 10.7}, {'connected_gene': 'KRT8P11', 'score': 6.01}, {'connected_gene': 'TGFBR1', 'score': 4.75}, {'connected_gene': 'LOC105376174', 'score': 0.44}, {'connected_gene': 'GC09M099146', 'score': 0.29}, {'connected_gene': 'RNA5SP290', 'score': 0.29}]
chr9 GH09I099245 99244457 99244663 0.58 [{'connected_gene': 'SEC61B', 'score': 11.91}, {'connected_gene': 'ALG2', 'score': 11.91}, {'connected_gene': 'KRT8P11', 'score': 5.1}, {'connected_gene': 'GC09P099237', 'score': 0.44}, {'connected_gene': 'RN7SKP225', 'score': 0.28}]
chr9 GH09I099169 99169922 99171254 0.68 [{'connected_gene': 'SEC61B', 'score': 11.25}, {'connected_gene': 'ALG2', 'score': 11.25}, {'connected_gene': 'KRT8P11', 'score': 6.68}, {'connected_gene': 'LOC105376174', 'score': 0.39}, {'connected_gene': 'GC09M099146', 'score': 0.34}, {'connected_gene': 'RNA5SP290', 'score': 0.34}]
chr9 GH09I099173 99172985 99174553 0.84 [{'connected_gene': 'SEC61B', 'score': 11.27}, {'connected_gene': 'ALG2', 'score': 11.27}, {'connected_gene': 'KRT8P11', 'score': 6.0}, {'connected_gene': 'LOC105376174', 'score': 0.44}, {'connected_gene': 'GC09M099146', 'score': 0.31}, {'connected_gene': 'RNA5SP290', 'score': 0.31}]
chr9 GH09I099266 99266397 99267000 1.39 [{'connected_gene': 'SEC61B', 'score': 11.83}, {'connected_gene': 'ALG2', 'score': 11.83}, {'connected_gene': 'RN7SKP225', 'score': 0.37}, {'connected_gene': 'GC09P099237', 'score': 0.31}]
chr9 GH09I099244 99244999 99245245 1.09 [{'connected_gene': 'SEC61B', 'score': 11.91}, {'connected_gene': 'ALG2', 'score': 11.91}, {'connected_gene': 'GC09P099237', 'score': 0.44}, {'connected_gene': 'RN7SKP225', 'score': 0.28}]
chr9 GH09I099252 99252248 99254502 1.48 [{'connected_gene': 'SEC61B', 'score': 11.32}, {'connected_gene': 'ALG2', 'score': 11.32}, {'connected_gene': 'GC09P099237', 'score': 0.37}, {'connected_gene': 'RN7SKP225', 'score': 0.29}]
chr9 GH09I099172 99172819 99172968 0.83 [{'connected_gene': 'SEC61B', 'score': 11.27}, {'connected_gene': 'ALG2', 'score': 11.27}, {'connected_gene': 'LOC105376174', 'score': 0.39}, {'connected_gene': 'GC09M099146', 'score': 0.31}, {'connected_gene': 'RNA5SP290', 'score': 0.31}]
chr9 GH09I099159 99159739 99159908 0.38 [{'connected_gene': 'SEC61B', 'score': 11.26}, {'connected_gene': 'ALG2', 'score': 11.26}, {'connected_gene': 'GC09M099146', 'score': 0.39}, {'connected_gene': 'RNA5SP290', 'score': 0.39}, {'connected_gene': 'LOC105376174', 'score': 0.34}]
chr9 GH09I099183 99183808 99185430 1.04 [{'connected_gene': 'RN7SL794P', 'score': 550.77}, {'connected_gene': 'LOC105376174', 'score': 550.77}, {'connected_gene': 'SEC61B', 'score': 12.17}, {'connected_gene': 'ALG2', 'score': 12.17}, {'connected_gene': 'KRT8P11', 'score': 6.28}]
chr9 GH09I099181 99181203 99182301 1.29 [{'connected_gene': 'LOC105376174', 'score': 550.77}, {'connected_gene': 'ALG2', 'score': 13.06}, {'connected_gene': 'STX17', 'score': 12.16}, {'connected_gene': 'SEC61B', 'score': 11.92}, {'connected_gene': 'GC09M099146', 'score': 0.28}, {'connected_gene': 'RNA5SP290', 'score': 0.28}]
chr9 GH09I099234 99234210 99237914 1.18 [{'connected_gene': 'GC09P099237', 'score': 550.77}, {'connected_gene': 'KRT8P11', 'score': 8.67}, {'connected_gene': 'ALG2', 'score': 4.99}, {'connected_gene': 'SEC61B', 'score': 3.89}, {'connected_gene': 'GC09M099229', 'score': 0.44}]
chr9 GH09I099239 99239451 99239752 0.77 [{'connected_gene': 'GC09P099237', 'score': 550.77}, {'connected_gene': 'KRT8P11', 'score': 5.12}, {'connected_gene': 'ALG2', 'score': 3.2}, {'connected_gene': 'RN7SKP225', 'score': 0.26}]
chr9 GH09I099220 99220600 99224082 2.25 [{'connected_gene': 'PIR31591', 'score': 550.77}, {'connected_gene': 'SEC61B', 'score': 550.77}, {'connected_gene': 'GC09M099222', 'score': 550.77}, {'connected_gene': 'ALG2', 'score': 550.77}, {'connected_gene': 'KRT8P11', 'score': 8.54}, {'connected_gene': 'GC09M099229', 'score': 0.44}]