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
ENST00000377698 [[38392660, 38392804], [38395736, 38398658]] [[38395745, 38397299]]
NM_000692 [[38392660, 38392804], [38395736, 38398662]] [[38395745, 38397299]]
Promoter
Chrom Start End Description
chr9 38392661 38392678 CAGE_peak_2_at_ALDH1B1_5end
chr9 38392691 38392779 CAGE_peak_1_at_ALDH1B1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I037927 37927070 37928449 0.69 [{'connected_gene': 'SLC25A51', 'score': 11.78}, {'connected_gene': 'ENSG00000200026', 'score': 9.91}, {'connected_gene': 'ALDH1B1', 'score': 9.9}, {'connected_gene': 'RNU7-124P', 'score': 0.44}, {'connected_gene': 'PIR56568', 'score': 0.44}, {'connected_gene': 'GC09M038093', 'score': 0.23}, {'connected_gene': 'ENSG00000255872', 'score': 0.11}, {'connected_gene': 'SHB', 'score': 0.11}]
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 GH09I037956 37956253 37957432 0.8 [{'connected_gene': 'SHB', 'score': 18.58}, {'connected_gene': 'ENSG00000255872', 'score': 10.77}, {'connected_gene': 'SLC25A51', 'score': 10.75}, {'connected_gene': 'ALDH1B1', 'score': 9.5}, {'connected_gene': 'TMX2P1', 'score': 6.11}, {'connected_gene': 'RNU7-124P', 'score': 0.34}, {'connected_gene': 'GC09M038093', 'score': 0.34}]
chr9 GH09I037947 37947196 37949309 0.2 [{'connected_gene': 'SHB', 'score': 18.76}, {'connected_gene': 'SLC25A51', 'score': 15.94}, {'connected_gene': 'ENSG00000255872', 'score': 10.76}, {'connected_gene': 'ALDH1B1', 'score': 9.5}, {'connected_gene': 'TMX2P1', 'score': 5.27}, {'connected_gene': 'RNU7-124P', 'score': 0.39}, {'connected_gene': 'GC09M038093', 'score': 0.29}]
chr9 GH09I037921 37921275 37923262 0.77 [{'connected_gene': 'SHB', 'score': 20.1}, {'connected_gene': 'ENSG00000255872', 'score': 11.06}, {'connected_gene': 'ALDH1B1', 'score': 10.71}, {'connected_gene': 'PIR56568', 'score': 0.77}, {'connected_gene': 'RNU7-124P', 'score': 0.39}, {'connected_gene': 'GC09M038093', 'score': 0.22}]
chr9 GH09I037958 37958034 37959350 0.2 [{'connected_gene': 'SHB', 'score': 18.47}, {'connected_gene': 'RNU7-124P', 'score': 12.9}, {'connected_gene': 'ENSG00000255872', 'score': 10.86}, {'connected_gene': 'SLC25A51', 'score': 10.75}, {'connected_gene': 'ALDH1B1', 'score': 9.67}, {'connected_gene': 'GC09M038093', 'score': 0.34}]
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 GH09I038425 38425499 38429778 0.4 [{'connected_gene': 'IGFBPL1', 'score': 15.66}, {'connected_gene': 'ALDH1B1', 'score': 11.48}, {'connected_gene': 'TCEA1P3', 'score': 5.0}, {'connected_gene': 'LOC105376041', 'score': 0.77}, {'connected_gene': 'ENSG00000283162', 'score': 0.44}]
chr9 GH09I038437 38436630 38438303 1.03 [{'connected_gene': 'IGFBPL1', 'score': 17.15}, {'connected_gene': 'ALDH1B1', 'score': 10.84}, {'connected_gene': 'TCEA1P3', 'score': 5.07}, {'connected_gene': 'ENSG00000283162', 'score': 0.77}, {'connected_gene': 'ARMC8P1', 'score': 0.37}]
chr9 GH09I038436 38436404 38436553 0.38 [{'connected_gene': 'IGFBPL1', 'score': 15.09}, {'connected_gene': 'ALDH1B1', 'score': 10.84}, {'connected_gene': 'ENSG00000283162', 'score': 0.77}, {'connected_gene': 'ARMC8P1', 'score': 0.37}]
chr9 GH09I038379 38379693 38394757 2.74 [{'connected_gene': 'ALDH1B1', 'score': 576.9}, {'connected_gene': 'IGFBPL1', 'score': 10.93}, {'connected_gene': 'SLC25A51', 'score': 10.34}, {'connected_gene': 'LOC105376040', 'score': 0.39}]
chr9 GH09I038371 38371584 38371733 0.72 [{'connected_gene': 'ALDH1B1', 'score': 12.18}, {'connected_gene': 'FRMPD1', 'score': 6.88}, {'connected_gene': 'LOC105376040', 'score': 0.77}, {'connected_gene': 'ENSG00000223716', 'score': 0.39}]
chr9 GH09I038338 38338664 38340313 0.79 [{'connected_gene': 'ALDH1B1', 'score': 11.32}, {'connected_gene': 'RNU7-124P', 'score': 10.29}, {'connected_gene': 'PIR45801', 'score': 0.39}, {'connected_gene': 'GC09P038330', 'score': 0.39}, {'connected_gene': 'GC09P038333', 'score': 0.39}, {'connected_gene': 'GC09P038326', 'score': 0.39}, {'connected_gene': 'GC09P038332', 'score': 0.39}, {'connected_gene': 'GC09P038329', 'score': 0.39}, {'connected_gene': 'GC09P038327', 'score': 0.39}, {'connected_gene': 'GC09P038331', 'score': 0.39}, {'connected_gene': 'ENSG00000223716', 'score': 0.34}]
chr9 GH09I038443 38443304 38443553 0.84 [{'connected_gene': 'ALDH1B1', 'score': 9.96}, {'connected_gene': 'ENSG00000283162', 'score': 0.44}, {'connected_gene': 'ARMC8P1', 'score': 0.39}]
chr9 GH09I038438 38436128 38436259 0.2 [{'connected_gene': 'ALDH1B1', 'score': 10.84}, {'connected_gene': 'ENSG00000283162', 'score': 0.77}, {'connected_gene': 'ARMC8P1', 'score': 0.37}]
chr9 GH09I038318 38318532 38320316 0.99 [{'connected_gene': 'TRMT10B', 'score': 12.36}, {'connected_gene': 'ZBTB5', 'score': 11.06}, {'connected_gene': 'ALDH1B1', 'score': 10.76}, {'connected_gene': 'SLC25A51', 'score': 10.55}, {'connected_gene': 'RNU7-124P', 'score': 9.95}, {'connected_gene': 'ENSG00000255872', 'score': 9.88}, {'connected_gene': 'SHB', 'score': 9.88}, {'connected_gene': 'PIR45801', 'score': 0.44}, {'connected_gene': 'GC09P038330', 'score': 0.44}, {'connected_gene': 'GC09P038332', 'score': 0.44}, {'connected_gene': 'GC09P038329', 'score': 0.44}, {'connected_gene': 'GC09P038333', 'score': 0.44}, {'connected_gene': 'GC09P038326', 'score': 0.44}, {'connected_gene': 'GC09P038327', 'score': 0.44}, {'connected_gene': 'GC09P038331', 'score': 0.44}, {'connected_gene': 'GC09P038309', 'score': 0.39}]
chr9 GH09I038374 38374774 38376938 0.8 [{'connected_gene': 'LOC105376040', 'score': 550.77}, {'connected_gene': 'IGFBPL1', 'score': 10.86}, {'connected_gene': 'ALDH1B1', 'score': 7.25}, {'connected_gene': 'ENSG00000223716', 'score': 0.37}]
chr9 GH09I038400 38400585 38400913 0.82 [{'connected_gene': 'RBM17P1', 'score': 4.53}, {'connected_gene': 'GC09P038407', 'score': 0.44}, {'connected_gene': 'GC09P038406', 'score': 0.44}, {'connected_gene': 'ALDH1B1', 'score': 0.44}]
chr9 GH09I038199 38199921 38200764 0.38 [{'connected_gene': 'ENSG00000200026', 'score': 11.26}, {'connected_gene': 'SLC25A51', 'score': 10.05}, {'connected_gene': 'ALDH1B1', 'score': 9.92}, {'connected_gene': 'PIR59956', 'score': 0.34}, {'connected_gene': 'PIR42425', 'score': 0.31}]
chr9 GH09I038107 38107580 38108615 0.83 [{'connected_gene': 'ENSG00000200026', 'score': 11.27}, {'connected_gene': 'ENSG00000255872', 'score': 10.89}, {'connected_gene': 'SHB', 'score': 10.89}, {'connected_gene': 'SLC25A51', 'score': 10.4}, {'connected_gene': 'ALDH1B1', 'score': 9.82}, {'connected_gene': 'PIR39865', 'score': 0.44}, {'connected_gene': 'LOC105376039', 'score': 0.29}]
chr9 GH09I037916 37916002 37918039 0.66 [{'connected_gene': 'GC09M037954', 'score': 550.77}, {'connected_gene': 'SHB', 'score': 18.81}, {'connected_gene': 'ENSG00000255872', 'score': 11.05}, {'connected_gene': 'ALDH1B1', 'score': 10.11}, {'connected_gene': 'GC09M038091', 'score': 0.77}, {'connected_gene': 'GC09M038093', 'score': 0.21}]
chr9 GH09I038434 38433306 38436035 0.69 [{'connected_gene': 'ENSG00000283162', 'score': 550.77}, {'connected_gene': 'IGFBPL1', 'score': 15.09}, {'connected_gene': 'ALDH1B1', 'score': 11.01}, {'connected_gene': 'TCEA1P3', 'score': 5.14}, {'connected_gene': 'ARMC8P1', 'score': 0.37}]
chr9 GH09I038433 38433044 38433173 0.64 [{'connected_gene': 'ENSG00000283162', 'score': 550.77}, {'connected_gene': 'IGFBPL1', 'score': 15.13}, {'connected_gene': 'ALDH1B1', 'score': 11.01}, {'connected_gene': 'LOC105376041', 'score': 0.44}]
chr9 GH09I037929 37929337 37930599 0.58 [{'connected_gene': 'ENSG00000200026', 'score': 9.91}, {'connected_gene': 'ALDH1B1', 'score': 9.9}, {'connected_gene': 'SHB', 'score': 6.41}, {'connected_gene': 'TMX2P1', 'score': 6.13}, {'connected_gene': 'RNU7-124P', 'score': 0.44}, {'connected_gene': 'PIR56568', 'score': 0.44}, {'connected_gene': 'GC09M038093', 'score': 0.23}, {'connected_gene': 'ENSG00000255872', 'score': 0.12}]
chr9 GH09I038204 38204708 38205486 0.2 [{'connected_gene': 'ENSG00000200026', 'score': 11.02}, {'connected_gene': 'ALDH1B1', 'score': 9.93}, {'connected_gene': 'PIR42425', 'score': 0.34}, {'connected_gene': 'PIR59956', 'score': 0.31}]
chr9 GH09I038208 38208106 38209141 0.77 [{'connected_gene': 'ENSG00000200026', 'score': 11.01}, {'connected_gene': 'ALDH1B1', 'score': 9.93}, {'connected_gene': 'PIR42425', 'score': 0.34}, {'connected_gene': 'PIR59956', 'score': 0.31}]
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 GH09I037913 37913401 37914400 1.32 [{'connected_gene': 'GC09M038091', 'score': 550.77}, {'connected_gene': 'RNU7-124P', 'score': 11.15}, {'connected_gene': 'ENSG00000255872', 'score': 11.05}, {'connected_gene': 'SHB', 'score': 11.05}, {'connected_gene': 'ALDH1B1', 'score': 10.31}, {'connected_gene': 'GC09M037954', 'score': 0.77}, {'connected_gene': 'GC09M038093', 'score': 0.2}]