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
ENST00000366882 [[165740775, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056], [165989899, 165989937], [166075434, 166075588]] [[165746513, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056]]
ENST00000354448 [[165740777, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056], [165989899, 165989936]] [[165746513, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056], [165989899, 165989936]]
ENST00000539869 [[165744538, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056], [166075434, 166075557]] [[165746513, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056], [166075434, 166075501]]
ENST00000580695 [[165957020, 165957056], [166399595, 166400091]] None
ENST00000535229 [[166193756, 166195411], [166399595, 166399984]] None
NM_006661 [[165740775, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056], [165989899, 165990027], [166075434, 166075588]] [[165746513, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056], [165989899, 165989936]]
NM_001130690 [[165740775, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056], [166075434, 166075588]] [[165746513, 165746616], [165749611, 165749700], [165752766, 165752847], [165756879, 165756991], [165792682, 165792855], [165801786, 165801942], [165806134, 165806285], [165808669, 165808753], [165809805, 165809948], [165826988, 165827175], [165829676, 165829769], [165832122, 165832265], [165842145, 165842197], [165843774, 165843833], [165844909, 165844960], [165846461, 165846617], [165848724, 165848865], [165862415, 165862465], [165863729, 165863850], [165895802, 165895831], [165956927, 165957056], [166075434, 166075501]]
Promoter
Chrom Start End Description
chr6 165990105 165990115 CAGE_peak_10_at_PDE10A_5end
chr6 165990158 165990169 CAGE_peak_12_at_PDE10A_5end
chr6 166075754 166075776 CAGE_peak_2_at_PDE10A_5end
chr6 166076038 166076072 CAGE_peak_1_at_PDE10A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I165983 165983082 165989567 1.66 [{'connected_gene': 'LINC00602', 'score': 550.77}, {'connected_gene': 'LINC00473', 'score': 550.77}, {'connected_gene': 'PDE10A', 'score': 550.77}, {'connected_gene': 'GC06M165803', 'score': 0.11}]
chr6 GH06I165972 165972523 165972866 0.45 [{'connected_gene': 'PDE10A', 'score': 0.39}, {'connected_gene': 'LINC00473', 'score': 0.37}, {'connected_gene': 'GC06M165803', 'score': 0.12}]
chr6 GH06I165570 165570607 165578279 1.37 [{'connected_gene': 'PDE10A', 'score': 10.46}, {'connected_gene': 'RNU6-730P', 'score': 9.99}, {'connected_gene': 'GC06P165548', 'score': 0.31}, {'connected_gene': 'LOC105378115', 'score': 0.16}]
chr6 GH06I165632 165632413 165632562 0.43 [{'connected_gene': 'PDE10A', 'score': 11.7}, {'connected_gene': 'RNU6-730P', 'score': 10.51}, {'connected_gene': 'LOC105378115', 'score': 0.28}, {'connected_gene': 'GC06P165548', 'score': 0.18}]
chr6 GH06I165606 165606553 165606702 0.31 [{'connected_gene': 'PDE10A', 'score': 10.52}, {'connected_gene': 'RNU6-730P', 'score': 10.36}, {'connected_gene': 'GC06P165548', 'score': 0.22}, {'connected_gene': 'LOC105378115', 'score': 0.21}]
chr6 GH06I165635 165635401 165638432 0.66 [{'connected_gene': 'PDE10A', 'score': 24.8}, {'connected_gene': 'RNU6-730P', 'score': 10.52}, {'connected_gene': 'LOC105378115', 'score': 0.29}, {'connected_gene': 'GC06P165548', 'score': 0.17}]
chr6 GH06I165701 165701133 165701302 0.31 [{'connected_gene': 'PDE10A', 'score': 11.06}, {'connected_gene': 'GC06M165719', 'score': 0.37}, {'connected_gene': 'RNU6-730P', 'score': 0.37}, {'connected_gene': 'LOC105378115', 'score': 0.29}]
chr6 GH06I165633 165633973 165635228 0.31 [{'connected_gene': 'PDE10A', 'score': 11.7}, {'connected_gene': 'RNU6-730P', 'score': 10.52}, {'connected_gene': 'LOC105378115', 'score': 0.29}, {'connected_gene': 'GC06P165548', 'score': 0.17}]
chr6 GH06I165702 165701975 165702328 0.5 [{'connected_gene': 'PDE10A', 'score': 11.06}, {'connected_gene': 'GC06M165719', 'score': 0.37}, {'connected_gene': 'RNU6-730P', 'score': 0.37}, {'connected_gene': 'LOC105378115', 'score': 0.29}]
chr6 GH06I165660 165660570 165664510 2.16 [{'connected_gene': 'PDE10A', 'score': 557.99}, {'connected_gene': 'LOC105378115', 'score': 0.44}, {'connected_gene': 'GC06P165548', 'score': 0.14}]
chr6 GH06I165920 165920999 165923156 0.56 [{'connected_gene': 'RNU6-730P', 'score': 9.0}, {'connected_gene': 'PDE10A', 'score': 0.21}, {'connected_gene': 'LINC00473', 'score': 0.2}, {'connected_gene': 'GC06M165803', 'score': 0.18}]
chr6 GH06I165648 165648808 165650441 0.78 [{'connected_gene': 'RNU6-730P', 'score': 10.23}, {'connected_gene': 'PDE10A', 'score': 5.3}, {'connected_gene': 'LOC105378115', 'score': 0.37}, {'connected_gene': 'GC06P165548', 'score': 0.15}]
chr6 GH06I165551 165551918 165553128 0.38 [{'connected_gene': 'RNU6-730P', 'score': 9.58}, {'connected_gene': 'GC06P165548', 'score': 0.77}, {'connected_gene': 'LOC105378115', 'score': 0.13}, {'connected_gene': 'PDE10A', 'score': 0.04}]
chr6 GH06I165647 165647201 165647400 0.43 [{'connected_gene': 'RNU6-730P', 'score': 9.89}, {'connected_gene': 'LOC105378115', 'score': 0.34}, {'connected_gene': 'GC06P165548', 'score': 0.15}, {'connected_gene': 'PDE10A', 'score': 0.05}]
chr6 GH06I165799 165799873 165800022 0.2 [{'connected_gene': 'RNU6-730P', 'score': 10.19}, {'connected_gene': 'GC06M165776', 'score': 0.44}, {'connected_gene': 'GC06M165797', 'score': 0.39}, {'connected_gene': 'LOC105378114', 'score': 0.34}, {'connected_gene': 'PDE10A', 'score': 0.09}]
chr6 GH06I165615 165615223 165617234 0.72 [{'connected_gene': 'LOC105378115', 'score': 0.23}, {'connected_gene': 'GC06P165548', 'score': 0.2}, {'connected_gene': 'PDE10A', 'score': 0.05}]
chr6 GH06I165774 165774647 165775956 0.89 [{'connected_gene': 'LOC105378114', 'score': 550.77}, {'connected_gene': 'PDE10A', 'score': 10.47}, {'connected_gene': 'ENSG00000236627', 'score': 0.34}]
chr6 GH06I165951 165951426 165951679 0.23 [{'connected_gene': 'TBXT', 'score': 1.44}, {'connected_gene': 'LINC00473', 'score': 0.28}, {'connected_gene': 'PDE10A', 'score': 0.28}, {'connected_gene': 'GC06M165803', 'score': 0.14}]
chr6 GH06I165468 165468813 165468962 0.31 [{'connected_gene': 'PIR57945', 'score': 0.44}, {'connected_gene': 'GC06P165548', 'score': 0.18}, {'connected_gene': 'PDE10A', 'score': 0.03}]
chr6 GH06I165880 165880692 165881189 0.2 [{'connected_gene': 'ENSG00000231297', 'score': 12.06}, {'connected_gene': 'GC06M165803', 'score': 0.28}, {'connected_gene': 'PDE10A', 'score': 0.14}]
chr6 GH06I165818 165818333 165818482 0.2 [{'connected_gene': 'GC06M165797', 'score': 0.44}, {'connected_gene': 'GC06P165832', 'score': 0.39}, {'connected_gene': 'GC06M165803', 'score': 0.34}, {'connected_gene': 'PDE10A', 'score': 0.1}]
chr6 GH06I165842 165842353 165842562 0.46 [{'connected_gene': 'GC06M165803', 'score': 550.77}, {'connected_gene': 'ENSG00000231297', 'score': 10.64}, {'connected_gene': 'PDE10A', 'score': 0.11}]
chr6 GH06I165876 165876294 165877384 0.38 [{'connected_gene': 'ENSG00000231297', 'score': 12.06}, {'connected_gene': 'GC06M165803', 'score': 0.28}, {'connected_gene': 'PDE10A', 'score': 0.14}]
chr6 GH06I165844 165843213 165843362 0.54 [{'connected_gene': 'ENSG00000231297', 'score': 10.64}, {'connected_gene': 'GC06M165803', 'score': 0.77}, {'connected_gene': 'PDE10A', 'score': 0.11}]
chr6 GH06I165834 165834713 165834862 0.74 [{'connected_gene': 'GC06P165832', 'score': 0.77}, {'connected_gene': 'GC06M165803', 'score': 0.44}, {'connected_gene': 'PDE10A', 'score': 0.1}]
chr6 GH06I165843 165843193 165843196 0.52 [{'connected_gene': 'ENSG00000231297', 'score': 10.64}, {'connected_gene': 'GC06M165803', 'score': 0.77}, {'connected_gene': 'PDE10A', 'score': 0.11}]
chr6 GH06I165423 165423849 165423859 0.25 [{'connected_gene': 'GC06P165418', 'score': 0.44}, {'connected_gene': 'PIR57945', 'score': 0.28}, {'connected_gene': 'PDE10A', 'score': 0.03}]
chr6 GH06I165469 165468613 165468762 0.2 [{'connected_gene': 'PIR57945', 'score': 0.44}, {'connected_gene': 'GC06P165548', 'score': 0.18}, {'connected_gene': 'PDE10A', 'score': 0.03}]
chr6 GH06I165497 165497593 165497702 0.71 [{'connected_gene': 'PIR57945', 'score': 0.28}, {'connected_gene': 'GC06P165548', 'score': 0.23}, {'connected_gene': 'PDE10A', 'score': 0.04}]
chr6 GH06I165890 165890193 165890342 0.66 [{'connected_gene': 'GC06M165803', 'score': 0.25}, {'connected_gene': 'PDE10A', 'score': 0.15}]
chr6 GH06I165516 165516353 165516482 0.67 [{'connected_gene': 'GC06P165548', 'score': 0.29}, {'connected_gene': 'PIR57945', 'score': 0.23}, {'connected_gene': 'PDE10A', 'score': 0.04}]
chr6 GH06I165885 165885213 165885362 0.63 [{'connected_gene': 'ENSG00000231297', 'score': 11.78}, {'connected_gene': 'GC06M165803', 'score': 0.26}, {'connected_gene': 'PDE10A', 'score': 0.15}]
chr6 GH06I165884 165884953 165885142 0.68 [{'connected_gene': 'ENSG00000231297', 'score': 11.78}, {'connected_gene': 'GC06M165803', 'score': 0.26}, {'connected_gene': 'PDE10A', 'score': 0.15}]
chr6 GH06I165717 165717452 165719382 0.63 [{'connected_gene': 'GC06M165719', 'score': 550.77}, {'connected_gene': 'RNU6-730P', 'score': 550.77}, {'connected_gene': 'GC06P165733', 'score': 0.37}, {'connected_gene': 'PDE10A', 'score': 0.06}]
chr6 GH06I165847 165847573 165847722 0.77 [{'connected_gene': 'ENSG00000231297', 'score': 10.24}, {'connected_gene': 'RNU6-730P', 'score': 10.07}, {'connected_gene': 'GC06M165803', 'score': 0.44}, {'connected_gene': 'PDE10A', 'score': 0.12}]
chr6 GH06I165584 165584076 165585791 0.38 [{'connected_gene': 'GC06P165548', 'score': 0.28}, {'connected_gene': 'LOC105378115', 'score': 0.18}, {'connected_gene': 'PDE10A', 'score': 0.05}]
chr6 GH06I165556 165556150 165557181 0.72 [{'connected_gene': 'GC06P165548', 'score': 0.44}, {'connected_gene': 'LOC105378115', 'score': 0.14}, {'connected_gene': 'PDE10A', 'score': 0.04}]
chr6 GH06I165804 165804395 165805835 0.31 [{'connected_gene': 'GC06M165776', 'score': 550.77}, {'connected_gene': 'GC06M165797', 'score': 0.44}, {'connected_gene': 'LOC105378114', 'score': 0.31}, {'connected_gene': 'GC06M165803', 'score': 0.28}, {'connected_gene': 'PDE10A', 'score': 0.09}]