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
ENST00000234310 [[68405988, 68408142], [68413599, 68413784], [68414386, 68414446], [68415645, 68415822], [68444223, 68444263], [68479256, 68479663]] [[68408094, 68408142], [68413599, 68413784], [68414386, 68414446], [68415645, 68415822], [68444223, 68444263], [68479256, 68479259]]
ENST00000409752 [[68407935, 68408142], [68413599, 68413784], [68414386, 68414446], [68415645, 68415822], [68444223, 68444263], [68483187, 68483369]] [[68408094, 68408142], [68413599, 68413784], [68414386, 68414446], [68415645, 68415822], [68444223, 68444263], [68483187, 68483247]]
ENST00000409377 [[68408078, 68408142], [68413599, 68413784], [68414386, 68414446], [68415645, 68415822], [68444223, 68444263], [68478122, 68478280]] [[68408094, 68408142], [68413599, 68413784], [68414386, 68414446], [68415645, 68415822], [68444223, 68444236]]
NM_000945 [[68405988, 68408142], [68413599, 68413784], [68414386, 68414446], [68415645, 68415822], [68444223, 68444263], [68479256, 68479651]] [[68408094, 68408142], [68413599, 68413784], [68414386, 68414446], [68415645, 68415822], [68444223, 68444263], [68479256, 68479259]]
Promoter
Chrom Start End Description
chr2 68479535 68479540 CAGE_peak_5_at_PPP3R1_5end
chr2 68479554 68479559 CAGE_peak_6_at_PPP3R1_5end
chr2 68479614 68479685 CAGE_peak_1_at_PPP3R1_5end
chr2 68479697 68479708 CAGE_peak_2_at_PPP3R1_5end
chr2 68479709 68479716 CAGE_peak_4_at_PPP3R1_5end
chr2 68479800 68479811 CAGE_peak_3_at_PPP3R1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I068195 68195169 68195318 0.66 [{'connected_gene': 'PNO1', 'score': 11.94}, {'connected_gene': 'WDR92', 'score': 11.94}, {'connected_gene': 'PPP3R1', 'score': 10.94}, {'connected_gene': 'ENSG00000273275', 'score': 0.37}, {'connected_gene': 'LOC102724389', 'score': 0.23}, {'connected_gene': 'ENSG00000273398', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068244 68244038 68245266 0.52 [{'connected_gene': 'PNO1', 'score': 10.82}, {'connected_gene': 'WDR92', 'score': 10.82}, {'connected_gene': 'PPP3R1', 'score': 8.07}, {'connected_gene': 'LOC102724389', 'score': 0.77}, {'connected_gene': 'ENSG00000273398', 'score': 0.37}, {'connected_gene': 'ENSG00000273275', 'score': 0.21}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068186 68185649 68185798 0.6 [{'connected_gene': 'PNO1', 'score': 11.45}, {'connected_gene': 'WDR92', 'score': 11.45}, {'connected_gene': 'PPP3R1', 'score': 7.81}, {'connected_gene': 'ENSG00000273275', 'score': 0.44}, {'connected_gene': 'LOC102724389', 'score': 0.21}, {'connected_gene': 'ENSG00000273398', 'score': 0.18}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068156 68156518 68159500 2.07 [{'connected_gene': 'PNO1', 'score': 550.77}, {'connected_gene': 'WDR92', 'score': 550.77}, {'connected_gene': 'PPP3R1', 'score': 19.88}, {'connected_gene': 'PIR60274', 'score': 0.37}, {'connected_gene': 'ENSG00000273398', 'score': 0.15}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068287 68287602 68288540 0.99 [{'connected_gene': 'PPP3R1', 'score': 11.82}, {'connected_gene': 'PNO1', 'score': 10.78}, {'connected_gene': 'WDR92', 'score': 10.78}, {'connected_gene': 'ENSG00000273398', 'score': 0.31}, {'connected_gene': 'CNRIP1', 'score': 0.29}, {'connected_gene': 'LOC102724389', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068290 68290929 68291078 0.31 [{'connected_gene': 'PPP3R1', 'score': 11.73}, {'connected_gene': 'PNO1', 'score': 10.78}, {'connected_gene': 'WDR92', 'score': 10.78}, {'connected_gene': 'CNRIP1', 'score': 0.31}, {'connected_gene': 'ENSG00000273398', 'score': 0.31}, {'connected_gene': 'LOC102724389', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068242 68242873 68243649 0.31 [{'connected_gene': 'PPP3R1', 'score': 14.64}, {'connected_gene': 'PNO1', 'score': 10.82}, {'connected_gene': 'WDR92', 'score': 10.82}, {'connected_gene': 'LOC102724389', 'score': 0.77}, {'connected_gene': 'ENSG00000273398', 'score': 0.37}, {'connected_gene': 'ENSG00000273275', 'score': 0.21}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068200 68200400 68200800 0.66 [{'connected_gene': 'PPP3R1', 'score': 12.3}, {'connected_gene': 'PNO1', 'score': 11.28}, {'connected_gene': 'WDR92', 'score': 11.28}, {'connected_gene': 'ENSG00000273275', 'score': 0.34}, {'connected_gene': 'LOC102724389', 'score': 0.25}, {'connected_gene': 'ENSG00000273398', 'score': 0.21}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068173 68173294 68174000 0.51 [{'connected_gene': 'PPP3R1', 'score': 7.0}, {'connected_gene': 'PIR60274', 'score': 0.77}, {'connected_gene': 'PNO1', 'score': 0.37}, {'connected_gene': 'ENSG00000273398', 'score': 0.17}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068284 68284865 68285240 0.33 [{'connected_gene': 'PPP3R1', 'score': 11.99}, {'connected_gene': 'ENSG00000273398', 'score': 0.34}, {'connected_gene': 'CNRIP1', 'score': 0.29}, {'connected_gene': 'LOC102724389', 'score': 0.28}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068188 68188037 68189690 0.38 [{'connected_gene': 'PPP3R1', 'score': 18.36}, {'connected_gene': 'WDR92', 'score': 18.19}, {'connected_gene': 'PNO1', 'score': 11.96}, {'connected_gene': 'C1D', 'score': 10.89}, {'connected_gene': 'ENSG00000273275', 'score': 0.44}, {'connected_gene': 'LOC102724389', 'score': 0.22}, {'connected_gene': 'ENSG00000273398', 'score': 0.19}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068203 68203164 68204985 1.13 [{'connected_gene': 'PPP3R1', 'score': 19.85}, {'connected_gene': 'WDR92', 'score': 18.81}, {'connected_gene': 'PNO1', 'score': 10.93}, {'connected_gene': 'ENSG00000273275', 'score': 0.34}, {'connected_gene': 'LOC102724389', 'score': 0.26}, {'connected_gene': 'ENSG00000273398', 'score': 0.22}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068214 68214804 68220989 0.75 [{'connected_gene': 'PPP3R1', 'score': 31.86}, {'connected_gene': 'WDR92', 'score': 18.31}, {'connected_gene': 'PNO1', 'score': 10.56}, {'connected_gene': 'LOC102724389', 'score': 0.31}, {'connected_gene': 'ENSG00000273275', 'score': 0.28}, {'connected_gene': 'ENSG00000273398', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068205 68205693 68208442 0.43 [{'connected_gene': 'PPP3R1', 'score': 20.02}, {'connected_gene': 'WDR92', 'score': 18.45}, {'connected_gene': 'PNO1', 'score': 10.93}, {'connected_gene': 'ENSG00000273275', 'score': 0.31}, {'connected_gene': 'LOC102724389', 'score': 0.26}, {'connected_gene': 'ENSG00000273398', 'score': 0.23}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068185 68185956 68187303 0.43 [{'connected_gene': 'PPP3R1', 'score': 18.76}, {'connected_gene': 'WDR92', 'score': 17.84}, {'connected_gene': 'PNO1', 'score': 11.45}, {'connected_gene': 'ENSG00000273275', 'score': 0.44}, {'connected_gene': 'LOC102724389', 'score': 0.21}, {'connected_gene': 'ENSG00000273398', 'score': 0.19}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068190 68190528 68192196 1.07 [{'connected_gene': 'PPP3R1', 'score': 31.09}, {'connected_gene': 'WDR92', 'score': 19.85}, {'connected_gene': 'PNO1', 'score': 11.96}, {'connected_gene': 'ENSG00000273275', 'score': 0.39}, {'connected_gene': 'LOC102724389', 'score': 0.22}, {'connected_gene': 'ENSG00000273398', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068248 68248646 68254563 2.27 [{'connected_gene': 'PPP3R1', 'score': 570.92}, {'connected_gene': 'WDR92', 'score': 18.47}, {'connected_gene': 'ETAA1', 'score': 12.0}, {'connected_gene': 'PNO1', 'score': 10.51}, {'connected_gene': 'LOC102724389', 'score': 0.77}, {'connected_gene': 'ENSG00000273398', 'score': 0.44}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068152 68152601 68153200 0.2 [{'connected_gene': 'PPP3R1', 'score': 19.73}, {'connected_gene': 'WDR92', 'score': 0.77}, {'connected_gene': 'GC02P068126', 'score': 0.31}, {'connected_gene': 'ENSG00000273398', 'score': 0.14}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068151 68151201 68151400 0.31 [{'connected_gene': 'PPP3R1', 'score': 19.7}, {'connected_gene': 'WDR92', 'score': 0.44}, {'connected_gene': 'GC02P068126', 'score': 0.31}, {'connected_gene': 'ENSG00000273398', 'score': 0.14}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068230 68230002 68231199 0.89 [{'connected_gene': 'PPP3R1', 'score': 8.0}, {'connected_gene': 'LOC102724389', 'score': 0.37}, {'connected_gene': 'ENSG00000273398', 'score': 0.29}, {'connected_gene': 'ENSG00000273275', 'score': 0.23}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068221 68221911 68223155 0.54 [{'connected_gene': 'PPP3R1', 'score': 11.74}, {'connected_gene': 'LOC102724389', 'score': 0.34}, {'connected_gene': 'ENSG00000273398', 'score': 0.28}, {'connected_gene': 'ENSG00000273275', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068255 68255601 68256401 0.63 [{'connected_gene': 'PPP3R1', 'score': 557.73}, {'connected_gene': 'ENSG00000273398', 'score': 0.44}, {'connected_gene': 'LOC102724389', 'score': 0.44}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068375 68375036 68391543 1.59 [{'connected_gene': 'PLEK', 'score': 25.65}, {'connected_gene': 'FBXO48', 'score': 7.16}, {'connected_gene': 'APLF', 'score': 3.54}, {'connected_gene': 'ARHGAP25', 'score': 2.93}, {'connected_gene': 'PPP3R1', 'score': 2.46}, {'connected_gene': 'C1D', 'score': 2.29}, {'connected_gene': 'LOC101927723', 'score': 0.39}, {'connected_gene': 'LOC391383', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068361 68361954 68370458 2.51 [{'connected_gene': 'PLEK', 'score': 569.63}, {'connected_gene': 'FBXO48', 'score': 5.11}, {'connected_gene': 'APLF', 'score': 4.9}, {'connected_gene': 'ARHGAP25', 'score': 3.56}, {'connected_gene': 'C1D', 'score': 2.81}, {'connected_gene': 'PPP3R1', 'score': 2.61}, {'connected_gene': 'LOC101927723', 'score': 0.77}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068236 68236601 68238540 0.96 [{'connected_gene': 'WDR92', 'score': 18.42}, {'connected_gene': 'PNO1', 'score': 10.6}, {'connected_gene': 'PPP3R1', 'score': 7.96}, {'connected_gene': 'LOC102724389', 'score': 0.44}, {'connected_gene': 'ENSG00000273398', 'score': 0.34}, {'connected_gene': 'ENSG00000273275', 'score': 0.22}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068239 68239201 68239600 0.66 [{'connected_gene': 'WDR92', 'score': 18.37}, {'connected_gene': 'PNO1', 'score': 10.59}, {'connected_gene': 'LOC102724389', 'score': 0.44}, {'connected_gene': 'PPP3R1', 'score': 0.37}, {'connected_gene': 'ENSG00000273398', 'score': 0.34}, {'connected_gene': 'ENSG00000273275', 'score': 0.22}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068196 68196036 68196878 0.66 [{'connected_gene': 'WDR92', 'score': 20.9}, {'connected_gene': 'PPP3R1', 'score': 20.12}, {'connected_gene': 'PNO1', 'score': 12.81}, {'connected_gene': 'C1D', 'score': 10.87}, {'connected_gene': 'ENSG00000273275', 'score': 0.37}, {'connected_gene': 'LOC102724389', 'score': 0.23}, {'connected_gene': 'ENSG00000273398', 'score': 0.21}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068192 68192749 68194932 1.52 [{'connected_gene': 'WDR92', 'score': 19.83}, {'connected_gene': 'PPP3R1', 'score': 18.55}, {'connected_gene': 'PNO1', 'score': 11.94}, {'connected_gene': 'ENSG00000273275', 'score': 0.39}, {'connected_gene': 'LOC102724389', 'score': 0.23}, {'connected_gene': 'ENSG00000273398', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068688 68688915 68691419 1.22 [{'connected_gene': 'LINC01888', 'score': 9.86}, {'connected_gene': 'ARHGAP25', 'score': 2.83}, {'connected_gene': 'PPP3R1', 'score': 2.22}, {'connected_gene': 'PROKR1', 'score': 1.7}, {'connected_gene': 'APLF', 'score': 1.16}, {'connected_gene': 'LOC105374790', 'score': 0.19}]
chr2 GH02I068247 68247001 68247400 0.4 [{'connected_gene': 'LOC102724389', 'score': 550.77}, {'connected_gene': 'PNO1', 'score': 10.52}, {'connected_gene': 'WDR92', 'score': 10.52}, {'connected_gene': 'PPP3R1', 'score': 0.44}, {'connected_gene': 'ENSG00000273398', 'score': 0.39}, {'connected_gene': 'ENSG00000273275', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068245 68245774 68246094 0.59 [{'connected_gene': 'LOC102724389', 'score': 550.77}, {'connected_gene': 'PNO1', 'score': 10.82}, {'connected_gene': 'WDR92', 'score': 10.82}, {'connected_gene': 'PPP3R1', 'score': 1.94}, {'connected_gene': 'ENSG00000273398', 'score': 0.37}, {'connected_gene': 'ENSG00000273275', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068246 68246401 68246800 0.58 [{'connected_gene': 'LOC102724389', 'score': 550.77}, {'connected_gene': 'PPP3R1', 'score': 14.69}, {'connected_gene': 'PNO1', 'score': 10.82}, {'connected_gene': 'WDR92', 'score': 10.82}, {'connected_gene': 'ENSG00000273398', 'score': 0.39}, {'connected_gene': 'ENSG00000273275', 'score': 0.2}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068223 68223201 68223400 0.58 [{'connected_gene': 'LOC102724389', 'score': 0.34}, {'connected_gene': 'PPP3R1', 'score': 0.29}, {'connected_gene': 'ENSG00000273398', 'score': 0.28}, {'connected_gene': 'ENSG00000273275', 'score': 0.26}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068229 68229001 68229400 0.51 [{'connected_gene': 'LOC102724389', 'score': 0.37}, {'connected_gene': 'PPP3R1', 'score': 0.31}, {'connected_gene': 'ENSG00000273398', 'score': 0.29}, {'connected_gene': 'ENSG00000273275', 'score': 0.25}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068224 68224402 68225728 1.23 [{'connected_gene': 'LOC102724389', 'score': 0.34}, {'connected_gene': 'PPP3R1', 'score': 0.29}, {'connected_gene': 'ENSG00000273398', 'score': 0.28}, {'connected_gene': 'ENSG00000273275', 'score': 0.25}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068179 68179081 68179287 0.4 [{'connected_gene': 'ENSG00000273275', 'score': 550.77}, {'connected_gene': 'PIR40286', 'score': 550.77}, {'connected_gene': 'PIR60274', 'score': 550.77}, {'connected_gene': 'PNO1', 'score': 12.05}, {'connected_gene': 'WDR92', 'score': 12.05}, {'connected_gene': 'C1D', 'score': 10.91}, {'connected_gene': 'CNRIP1', 'score': 10.19}, {'connected_gene': 'PPP3R1', 'score': 0.18}, {'connected_gene': 'ENSG00000273398', 'score': 0.18}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068180 68180662 68180953 0.4 [{'connected_gene': 'ENSG00000273275', 'score': 550.77}, {'connected_gene': 'PIR40286', 'score': 550.77}, {'connected_gene': 'PPP3R1', 'score': 14.6}, {'connected_gene': 'PNO1', 'score': 12.05}, {'connected_gene': 'WDR92', 'score': 12.05}, {'connected_gene': 'C1D', 'score': 10.91}, {'connected_gene': 'CNRIP1', 'score': 10.2}, {'connected_gene': 'LOC102724389', 'score': 0.2}, {'connected_gene': 'ENSG00000273398', 'score': 0.18}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
chr2 GH02I068176 68176414 68178884 0.38 [{'connected_gene': 'PIR40286', 'score': 550.77}, {'connected_gene': 'PIR60274', 'score': 550.77}, {'connected_gene': 'WDR92', 'score': 12.05}, {'connected_gene': 'C1D', 'score': 10.91}, {'connected_gene': 'CNRIP1', 'score': 10.19}, {'connected_gene': 'PPP3R1', 'score': 6.98}, {'connected_gene': 'PNO1', 'score': 0.37}, {'connected_gene': 'ENSG00000273398', 'score': 0.18}, {'connected_gene': 'GC02P067636', 'score': 0.03}]

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