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
ENST00000286713 [[124101354, 124103686], [124110292, 124110427], [124111397, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124132404, 124132483]] [[124103479, 124103686], [124110292, 124110427], [124111397, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124132404, 124132465]]
ENST00000538954 [[124103026, 124103686], [124110292, 124110427], [124111397, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124128393, 124128523], [124132404, 124132526]] [[124103479, 124103686], [124110292, 124110427], [124111397, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118342]]
ENST00000347359 [[124103047, 124103686], [124118330, 124118434], [124132404, 124132531]] [[124103479, 124103686], [124118330, 124118434], [124132404, 124132465]]
NR_073037 [[124101265, 124103686], [124110292, 124110427], [124111397, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124128393, 124128523], [124132404, 124132582]] None
NM_004099 [[124101265, 124103686], [124110292, 124110427], [124111397, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124132404, 124132582]] [[124103479, 124103686], [124110292, 124110427], [124111397, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124132404, 124132465]]
NM_001270526 [[124101265, 124103667], [124110364, 124110427], [124111397, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124132404, 124132582]] [[124103661, 124103667], [124110364, 124110427], [124111397, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124132404, 124132465]]
NM_001270527 [[124101265, 124101919], [124111436, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124132404, 124132582]] [[124101898, 124101919], [124111436, 124111601], [124115497, 124115580], [124116878, 124116951], [124118330, 124118434], [124132404, 124132465]]
NM_198194 [[124101265, 124103686], [124118330, 124118434], [124132404, 124132582]] [[124103479, 124103686], [124118330, 124118434], [124132404, 124132465]]
Promoter
Chrom Start End Description
chr9 124132513 124132536 CAGE_peak_1_at_STOM_5end
chr9 124132553 124132564 CAGE_peak_2_at_STOM_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I121182 121182951 121186370 0.95 [{'connected_gene': 'C5', 'score': 18.77}, {'connected_gene': 'GSN', 'score': 12.5}, {'connected_gene': 'CUTALP', 'score': 11.12}, {'connected_gene': 'STOM', 'score': 10.37}, {'connected_gene': 'LOC102723324', 'score': 10.37}, {'connected_gene': 'GGTA1P', 'score': 7.98}, {'connected_gene': 'PIR40575', 'score': 0.77}, {'connected_gene': 'RAB14', 'score': 0.28}]
chr9 GH09I121176 121176298 121179592 1 [{'connected_gene': 'C5', 'score': 18.37}, {'connected_gene': 'CUTALP', 'score': 16.01}, {'connected_gene': 'GSN', 'score': 11.74}, {'connected_gene': 'LOC102723324', 'score': 10.33}, {'connected_gene': 'STOM', 'score': 9.87}, {'connected_gene': 'DAB2IP', 'score': 5.46}, {'connected_gene': 'PIR40575', 'score': 0.44}, {'connected_gene': 'RAB14', 'score': 0.25}, {'connected_gene': 'CNTRL', 'score': 0.15}]
chr9 GH09I121273 121273689 121274828 0.2 [{'connected_gene': 'C5', 'score': 10.25}, {'connected_gene': 'STOM', 'score': 9.77}, {'connected_gene': 'LOC102723324', 'score': 9.77}, {'connected_gene': 'ENSG00000239593', 'score': 0.44}, {'connected_gene': 'LOC645482', 'score': 0.29}, {'connected_gene': 'GSN', 'score': 0.2}]
chr9 GH09I121240 121240568 121241234 0.4 [{'connected_gene': 'LOC645482', 'score': 550.77}, {'connected_gene': 'GSN', 'score': 11.8}, {'connected_gene': 'GSN-AS1', 'score': 11.7}, {'connected_gene': 'ENSG00000239593', 'score': 11.7}, {'connected_gene': 'C5', 'score': 10.8}, {'connected_gene': 'STOM', 'score': 10.31}, {'connected_gene': 'LOC102723324', 'score': 10.31}]
chr9 GH09I121307 121307347 121311488 0.6 [{'connected_gene': 'PSMD5', 'score': 13.31}, {'connected_gene': 'ENSG00000270917', 'score': 12.38}, {'connected_gene': 'STOM', 'score': 12.15}, {'connected_gene': 'LOC102723324', 'score': 12.15}, {'connected_gene': 'GSN-AS1', 'score': 11.72}, {'connected_gene': 'ENSG00000239593', 'score': 11.69}, {'connected_gene': 'GSN', 'score': 11.53}, {'connected_gene': 'C5', 'score': 10.13}, {'connected_gene': 'GGTA1P', 'score': 10.13}, {'connected_gene': 'DAB2IP', 'score': 10.04}, {'connected_gene': 'TRAF1', 'score': 4.28}, {'connected_gene': 'PIR41790', 'score': 0.37}]
chr9 GH09I121260 121260603 121262758 0.89 [{'connected_gene': 'GSN-AS1', 'score': 13.58}, {'connected_gene': 'ENSG00000239593', 'score': 13.58}, {'connected_gene': 'GSN', 'score': 13.47}, {'connected_gene': 'RAB14', 'score': 12.72}, {'connected_gene': 'LOC102723324', 'score': 11.0}, {'connected_gene': 'STOM', 'score': 10.75}, {'connected_gene': 'C5', 'score': 10.63}, {'connected_gene': 'LOC645482', 'score': 0.34}]
chr9 GH09I121257 121257409 121258753 0.97 [{'connected_gene': 'RAB14', 'score': 12.72}, {'connected_gene': 'ENSG00000239593', 'score': 12.59}, {'connected_gene': 'GSN-AS1', 'score': 12.56}, {'connected_gene': 'GSN', 'score': 12.48}, {'connected_gene': 'LOC102723324', 'score': 10.99}, {'connected_gene': 'STOM', 'score': 10.69}, {'connected_gene': 'C5', 'score': 10.63}, {'connected_gene': 'LOC645482', 'score': 0.37}]
chr9 GH09I121253 121253401 121254600 1 [{'connected_gene': 'RAB14', 'score': 12.74}, {'connected_gene': 'ENSG00000239593', 'score': 12.56}, {'connected_gene': 'GSN-AS1', 'score': 12.55}, {'connected_gene': 'GSN', 'score': 12.5}, {'connected_gene': 'LOC102723324', 'score': 10.99}, {'connected_gene': 'STOM', 'score': 10.68}, {'connected_gene': 'C5', 'score': 10.65}, {'connected_gene': 'GGTA1P', 'score': 5.91}, {'connected_gene': 'LOC645482', 'score': 0.39}]
chr9 GH09I121192 121192502 121202800 2.45 [{'connected_gene': 'RAB14', 'score': 550.31}, {'connected_gene': 'CUTALP', 'score': 24.55}, {'connected_gene': 'C5', 'score': 18.57}, {'connected_gene': 'CNTRL', 'score': 13.19}, {'connected_gene': 'GSN-AS1', 'score': 11.43}, {'connected_gene': 'ENSG00000239593', 'score': 11.43}, {'connected_gene': 'FBXW2', 'score': 11.22}, {'connected_gene': 'LOC102723324', 'score': 11.05}, {'connected_gene': 'STOM', 'score': 10.57}, {'connected_gene': 'GGTA1P', 'score': 7.2}, {'connected_gene': 'TRAF1', 'score': 6.35}, {'connected_gene': 'DAB2IP', 'score': 5.42}, {'connected_gene': 'RN7SL181P', 'score': 0.44}, {'connected_gene': 'PIR40575', 'score': 0.39}]
chr9 GH09I121350 121349917 121366199 1.57 [{'connected_gene': 'RAB14', 'score': 11.77}, {'connected_gene': 'GGTA1P', 'score': 11.5}, {'connected_gene': 'GSN', 'score': 11.05}, {'connected_gene': 'GSN-AS1', 'score': 10.64}, {'connected_gene': 'ENSG00000239593', 'score': 10.63}, {'connected_gene': 'CUTALP', 'score': 8.55}, {'connected_gene': 'TRAF1', 'score': 5.01}, {'connected_gene': 'STOM', 'score': 0.39}, {'connected_gene': 'LOC102723324', 'score': 0.39}, {'connected_gene': 'PIR41790', 'score': 0.29}]
chr9 GH09I121264 121264223 121265740 0.38 [{'connected_gene': 'GSN', 'score': 11.58}, {'connected_gene': 'C5', 'score': 10.63}, {'connected_gene': 'LOC102723324', 'score': 10.27}, {'connected_gene': 'STOM', 'score': 10.26}, {'connected_gene': 'CUTALP', 'score': 4.6}, {'connected_gene': 'ENSG00000239593', 'score': 0.37}, {'connected_gene': 'LOC645482', 'score': 0.34}]
chr9 GH09I121267 121267376 121273508 2.35 [{'connected_gene': 'GSN', 'score': 566.99}, {'connected_gene': 'PSMD5', 'score': 16.31}, {'connected_gene': 'CNTRL', 'score': 15.88}, {'connected_gene': 'FBXW2', 'score': 15.62}, {'connected_gene': 'RAB14', 'score': 13.61}, {'connected_gene': 'CUTALP', 'score': 12.93}, {'connected_gene': 'MRRF', 'score': 10.91}, {'connected_gene': 'STOM', 'score': 10.87}, {'connected_gene': 'LOC102723324', 'score': 10.87}, {'connected_gene': 'C5', 'score': 10.78}, {'connected_gene': 'ENSG00000239593', 'score': 0.39}, {'connected_gene': 'LOC645482', 'score': 0.29}]
chr9 GH09I121275 121275157 121290453 2.26 [{'connected_gene': 'GSN', 'score': 562.44}, {'connected_gene': 'ENSG00000239593', 'score': 550.77}, {'connected_gene': 'PSMD5', 'score': 16.32}, {'connected_gene': 'CNTRL', 'score': 15.87}, {'connected_gene': 'FBXW2', 'score': 15.62}, {'connected_gene': 'CUTALP', 'score': 13.25}, {'connected_gene': 'GGTA1P', 'score': 11.28}, {'connected_gene': 'MRRF', 'score': 10.91}, {'connected_gene': 'C5', 'score': 10.78}, {'connected_gene': 'STOM', 'score': 10.69}, {'connected_gene': 'LOC102723324', 'score': 10.69}, {'connected_gene': 'GSN-AS1', 'score': 0.77}]
chr9 GH09I121241 121241827 121243306 0.94 [{'connected_gene': 'GSN', 'score': 11.8}, {'connected_gene': 'GSN-AS1', 'score': 11.7}, {'connected_gene': 'ENSG00000239593', 'score': 11.7}, {'connected_gene': 'C5', 'score': 10.86}, {'connected_gene': 'STOM', 'score': 10.31}, {'connected_gene': 'LOC102723324', 'score': 10.31}, {'connected_gene': 'LOC645482', 'score': 0.77}]
chr9 GH09I121233 121233511 121235919 1.35 [{'connected_gene': 'GSN', 'score': 12.68}, {'connected_gene': 'ENSG00000239593', 'score': 11.82}, {'connected_gene': 'GSN-AS1', 'score': 11.8}, {'connected_gene': 'STOM', 'score': 10.73}, {'connected_gene': 'LOC102723324', 'score': 10.73}, {'connected_gene': 'C5', 'score': 10.55}, {'connected_gene': 'CUTALP', 'score': 4.63}, {'connected_gene': 'LOC645482', 'score': 0.44}, {'connected_gene': 'RAB14', 'score': 0.39}]
chr9 GH09I121268 121266403 121266931 0.31 [{'connected_gene': 'GSN', 'score': 11.58}, {'connected_gene': 'STOM', 'score': 10.27}, {'connected_gene': 'LOC102723324', 'score': 10.27}, {'connected_gene': 'C5', 'score': 9.09}, {'connected_gene': 'ENSG00000239593', 'score': 0.37}, {'connected_gene': 'LOC645482', 'score': 0.31}]
chr9 GH09I121291 121291797 121293616 0.31 [{'connected_gene': 'GSN', 'score': 12.0}, {'connected_gene': 'STOM', 'score': 11.01}, {'connected_gene': 'LOC102723324', 'score': 11.01}, {'connected_gene': 'C5', 'score': 10.66}, {'connected_gene': 'GSN-AS1', 'score': 0.44}, {'connected_gene': 'PIR41790', 'score': 0.29}]
chr9 GH09I121266 121266937 121267348 0.4 [{'connected_gene': 'GSN', 'score': 11.58}, {'connected_gene': 'STOM', 'score': 10.27}, {'connected_gene': 'LOC102723324', 'score': 10.27}, {'connected_gene': 'ENSG00000239593', 'score': 0.37}, {'connected_gene': 'LOC645482', 'score': 0.31}]
chr9 GH09I121293 121293862 121301195 2.34 [{'connected_gene': 'GSN', 'score': 561.99}, {'connected_gene': 'GGTA1P', 'score': 11.72}, {'connected_gene': 'STOM', 'score': 11.57}, {'connected_gene': 'LOC102723324', 'score': 11.57}, {'connected_gene': 'C5', 'score': 10.69}, {'connected_gene': 'CUTALP', 'score': 5.42}, {'connected_gene': 'GSN-AS1', 'score': 0.39}, {'connected_gene': 'PIR41790', 'score': 0.31}]
chr9 GH09I121167 121167357 121168701 0.2 [{'connected_gene': 'CUTALP', 'score': 13.64}, {'connected_gene': 'STOM', 'score': 9.9}, {'connected_gene': 'LOC102723324', 'score': 9.9}, {'connected_gene': 'C5', 'score': 7.42}, {'connected_gene': 'PIR40575', 'score': 0.37}, {'connected_gene': 'CNTRL', 'score': 0.16}]
chr9 GH09I121302 121302518 121302799 0.2 [{'connected_gene': 'STOM', 'score': 11.58}, {'connected_gene': 'LOC102723324', 'score': 11.58}, {'connected_gene': 'C5', 'score': 10.69}, {'connected_gene': 'GSN-AS1', 'score': 0.37}, {'connected_gene': 'PIR41790', 'score': 0.34}, {'connected_gene': 'GSN', 'score': 0.16}]
chr9 GH09I121168 121168810 121169850 0.58 [{'connected_gene': 'STOM', 'score': 9.9}, {'connected_gene': 'LOC102723324', 'score': 9.9}, {'connected_gene': 'PIR40575', 'score': 0.37}, {'connected_gene': 'C5', 'score': 0.16}, {'connected_gene': 'CNTRL', 'score': 0.16}]
chr9 GH09I121301 121301524 121302322 0.2 [{'connected_gene': 'STOM', 'score': 11.58}, {'connected_gene': 'LOC102723324', 'score': 11.58}, {'connected_gene': 'GSN-AS1', 'score': 0.37}, {'connected_gene': 'PIR41790', 'score': 0.34}, {'connected_gene': 'GSN', 'score': 0.16}]
chr9 GH09I121305 121305763 121305912 0.63 [{'connected_gene': 'STOM', 'score': 11.59}, {'connected_gene': 'LOC102723324', 'score': 11.59}, {'connected_gene': 'PIR41790', 'score': 0.34}, {'connected_gene': 'GSN-AS1', 'score': 0.34}, {'connected_gene': 'GSN', 'score': 0.15}]
chr9 GH09I121304 121304183 121304332 0.63 [{'connected_gene': 'STOM', 'score': 11.58}, {'connected_gene': 'LOC102723324', 'score': 11.58}, {'connected_gene': 'GSN-AS1', 'score': 0.37}, {'connected_gene': 'PIR41790', 'score': 0.34}, {'connected_gene': 'GSN', 'score': 0.15}]
chr9 GH09I121342 121342791 121346197 0.43 [{'connected_gene': 'STOM', 'score': 12.6}, {'connected_gene': 'LOC102723324', 'score': 12.6}, {'connected_gene': 'GSN', 'score': 11.23}, {'connected_gene': 'GSN-AS1', 'score': 10.98}, {'connected_gene': 'ENSG00000239593', 'score': 10.97}, {'connected_gene': 'CUTALP', 'score': 5.0}, {'connected_gene': 'PIR41790', 'score': 0.37}]
chr9 GH09I121346 121346920 121347483 0.2 [{'connected_gene': 'STOM', 'score': 12.63}, {'connected_gene': 'LOC102723324', 'score': 12.63}, {'connected_gene': 'GSN', 'score': 11.23}, {'connected_gene': 'GSN-AS1', 'score': 10.97}, {'connected_gene': 'ENSG00000239593', 'score': 10.97}, {'connected_gene': 'PIR41790', 'score': 0.34}]
chr9 GH09I121347 121347919 121348635 0.2 [{'connected_gene': 'STOM', 'score': 12.63}, {'connected_gene': 'LOC102723324', 'score': 12.63}, {'connected_gene': 'GSN', 'score': 11.23}, {'connected_gene': 'GSN-AS1', 'score': 10.97}, {'connected_gene': 'ENSG00000239593', 'score': 10.97}, {'connected_gene': 'PIR41790', 'score': 0.34}]
chr9 GH09I121331 121331363 121333064 0.63 [{'connected_gene': 'STOM', 'score': 11.73}, {'connected_gene': 'LOC102723324', 'score': 11.73}, {'connected_gene': 'GSN', 'score': 10.71}, {'connected_gene': 'GGTA1P', 'score': 10.46}, {'connected_gene': 'PIR41790', 'score': 0.44}]
chr9 GH09I121366 121366710 121374168 2.52 [{'connected_gene': 'STOM', 'score': 556.46}, {'connected_gene': 'LOC102723324', 'score': 550.77}, {'connected_gene': 'GGTA1P', 'score': 21.35}, {'connected_gene': 'CUTALP', 'score': 18.66}, {'connected_gene': 'PSMD5', 'score': 13.13}, {'connected_gene': 'MRRF', 'score': 11.75}, {'connected_gene': 'CNTRL', 'score': 11.72}, {'connected_gene': 'FBXW2', 'score': 9.86}, {'connected_gene': 'GC09M121372', 'score': 0.77}]
chr9 GH09I121393 121393043 121394605 0.79 [{'connected_gene': 'STOM', 'score': 12.25}, {'connected_gene': 'LOC102723324', 'score': 12.25}, {'connected_gene': 'GC09M121372', 'score': 0.34}, {'connected_gene': 'LOC102724773', 'score': 0.22}]
chr9 GH09I121397 121397647 121400599 1.24 [{'connected_gene': 'GGTA1P', 'score': 43.18}, {'connected_gene': 'PSMD5', 'score': 38.77}, {'connected_gene': 'CNTRL', 'score': 30.84}, {'connected_gene': 'FBXW2', 'score': 30.47}, {'connected_gene': 'MRRF', 'score': 29.97}, {'connected_gene': 'CUTALP', 'score': 25.28}, {'connected_gene': 'LOC102723324', 'score': 12.72}, {'connected_gene': 'STOM', 'score': 11.75}, {'connected_gene': 'GSN-AS1', 'score': 11.41}, {'connected_gene': 'ENSG00000239593', 'score': 11.41}, {'connected_gene': 'GSN', 'score': 11.36}, {'connected_gene': 'GC09M121372', 'score': 0.31}, {'connected_gene': 'LOC102724773', 'score': 0.23}]
chr9 GH09I121333 121333674 121336417 1.15 [{'connected_gene': 'CNTRL', 'score': 12.36}, {'connected_gene': 'LOC102723324', 'score': 11.87}, {'connected_gene': 'STOM', 'score': 11.85}, {'connected_gene': 'GSN-AS1', 'score': 11.24}, {'connected_gene': 'ENSG00000239593', 'score': 11.22}, {'connected_gene': 'GSN', 'score': 11.13}, {'connected_gene': 'MRRF', 'score': 11.06}, {'connected_gene': 'CUTALP', 'score': 9.45}, {'connected_gene': 'GGTA1P', 'score': 7.96}, {'connected_gene': 'C5', 'score': 4.25}, {'connected_gene': 'PIR41790', 'score': 0.44}]
chr9 GH09I121349 121349299 121349792 0.69 [{'connected_gene': 'LOC102723324', 'score': 12.55}, {'connected_gene': 'GSN', 'score': 11.05}, {'connected_gene': 'STOM', 'score': 0.34}, {'connected_gene': 'PIR41790', 'score': 0.34}]
chr9 GH09I121338 121338243 121342109 0.59 [{'connected_gene': 'LOC102723324', 'score': 12.6}, {'connected_gene': 'STOM', 'score': 12.58}, {'connected_gene': 'GSN', 'score': 11.23}, {'connected_gene': 'GSN-AS1', 'score': 11.11}, {'connected_gene': 'ENSG00000239593', 'score': 11.1}, {'connected_gene': 'CUTALP', 'score': 9.87}, {'connected_gene': 'GGTA1P', 'score': 6.19}, {'connected_gene': 'TRAF1', 'score': 4.74}, {'connected_gene': 'PIR41790', 'score': 0.39}]
chr9 GH09I121218 121218023 121218172 0.67 [{'connected_gene': 'ENSG00000239593', 'score': 12.08}, {'connected_gene': 'GSN-AS1', 'score': 12.08}, {'connected_gene': 'STOM', 'score': 10.77}, {'connected_gene': 'LOC102723324', 'score': 10.77}, {'connected_gene': 'RAB14', 'score': 0.77}, {'connected_gene': 'GSN', 'score': 0.39}]
chr9 GH09I121212 121212904 121213996 1.13 [{'connected_gene': 'ENSG00000239593', 'score': 12.75}, {'connected_gene': 'GSN-AS1', 'score': 12.74}, {'connected_gene': 'STOM', 'score': 10.24}, {'connected_gene': 'LOC102723324', 'score': 10.24}, {'connected_gene': 'RAB14', 'score': 6.52}, {'connected_gene': 'GSN', 'score': 0.44}]
chr9 GH09I121187 121187286 121189151 0.52 [{'connected_gene': 'PIR40575', 'score': 550.77}, {'connected_gene': 'CUTALP', 'score': 10.55}, {'connected_gene': 'STOM', 'score': 10.37}, {'connected_gene': 'LOC102723324', 'score': 10.37}, {'connected_gene': 'C5', 'score': 7.38}, {'connected_gene': 'RN7SL181P', 'score': 0.39}, {'connected_gene': 'RAB14', 'score': 0.29}]

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