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
ENST00000370986 [[68150743, 68151221], [68151707, 68151809], [68152032, 68152270], [68153343, 68154021]] [[68151177, 68151221], [68151707, 68151809], [68152032, 68152270], [68153343, 68153457]]
ENST00000370985 [[68150883, 68151221], [68152032, 68152270], [68153343, 68153570]] [[68151177, 68151221], [68152032, 68152270], [68153343, 68153457]]
ENST00000460575 [[68150911, 68151221], [68151707, 68152271]] None
ENST00000484245 [[68151358, 68151809], [68152032, 68152269]] None
NM_001199741 [[68150859, 68151221], [68152032, 68152270], [68153343, 68154021]] [[68151177, 68151221], [68152032, 68152270], [68153343, 68153457]]
NM_001199742 [[68150859, 68151221], [68151707, 68151809], [68153343, 68154021]] [[68151177, 68151221], [68151707, 68151809], [68153343, 68153380]]
NM_001924 [[68150859, 68151221], [68151707, 68151809], [68152032, 68152270], [68153343, 68154021]] [[68151177, 68151221], [68151707, 68151809], [68152032, 68152270], [68153343, 68153457]]
Promoter
Chrom Start End Description
chr1 68150874 68150890 CAGE_peak_1_at_GADD45A_5end
chr1 68151730 68151791 CAGE_peak_2_at_GADD45A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I067720 67720907 67721604 0.38 [{'connected_gene': 'WDR78', 'score': 4.31}, {'connected_gene': 'LOC105378781', 'score': 0.29}, {'connected_gene': 'GADD45A', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.14}]
chr1 GH01I067625 67625643 67635800 1.46 [{'connected_gene': 'MIER1', 'score': 13.81}, {'connected_gene': 'GADD45A', 'score': 11.63}, {'connected_gene': 'SERBP1', 'score': 11.16}, {'connected_gene': 'RNU6-1031P', 'score': 10.09}, {'connected_gene': 'CTBP2P8', 'score': 9.98}, {'connected_gene': 'DIRAS3', 'score': 6.15}, {'connected_gene': 'RN7SL392P', 'score': 0.31}, {'connected_gene': 'LOC105378780', 'score': 0.2}]
chr1 GH01I067700 67700047 67702104 1.7 [{'connected_gene': 'GNG12', 'score': 5.16}, {'connected_gene': 'WDR78', 'score': 4.95}, {'connected_gene': 'GADD45A', 'score': 0.37}, {'connected_gene': 'LOC105378781', 'score': 0.23}]
chr1 GH01I067757 67757668 67762263 1.36 [{'connected_gene': 'GNG12', 'score': 16.62}, {'connected_gene': 'GADD45A', 'score': 11.89}, {'connected_gene': 'RNU6-1031P', 'score': 11.36}, {'connected_gene': 'GNG12-AS1', 'score': 11.18}, {'connected_gene': 'LOC105378781', 'score': 0.44}, {'connected_gene': 'GC01M067773', 'score': 0.39}]
chr1 GH01I067763 67763169 67767835 1.15 [{'connected_gene': 'GNG12', 'score': 16.34}, {'connected_gene': 'GADD45A', 'score': 11.66}, {'connected_gene': 'RNU6-1031P', 'score': 10.79}, {'connected_gene': 'GNG12-AS1', 'score': 10.64}, {'connected_gene': 'GC01M067773', 'score': 0.44}, {'connected_gene': 'LOC105378781', 'score': 0.39}]
chr1 GH01I067721 67721682 67727425 1.5 [{'connected_gene': 'GNG12', 'score': 5.12}, {'connected_gene': 'LOC105378781', 'score': 0.31}, {'connected_gene': 'GADD45A', 'score': 0.28}]
chr1 GH01I067706 67706826 67707724 0.66 [{'connected_gene': 'GADD45A', 'score': 12.32}, {'connected_gene': 'WDR78', 'score': 4.54}, {'connected_gene': 'LOC105378781', 'score': 0.25}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067681 67681905 67690189 2.35 [{'connected_gene': 'GADD45A', 'score': 550.77}, {'connected_gene': 'MIER1', 'score': 29.36}, {'connected_gene': 'SERBP1', 'score': 10.64}, {'connected_gene': 'WDR78', 'score': 4.41}, {'connected_gene': 'LOC105378781', 'score': 0.2}]
chr1 GH01I067731 67731676 67739750 1.42 [{'connected_gene': 'GADD45A', 'score': 12.12}, {'connected_gene': 'SERBP1', 'score': 11.73}, {'connected_gene': 'RNU6-1031P', 'score': 10.23}, {'connected_gene': 'LOC105378781', 'score': 0.37}, {'connected_gene': 'GNG12', 'score': 0.15}]
chr1 GH01I067712 67712925 67714763 1.27 [{'connected_gene': 'GADD45A', 'score': 12.07}, {'connected_gene': 'SERBP1', 'score': 11.73}, {'connected_gene': 'RNU7-80P', 'score': 11.14}, {'connected_gene': 'LOC105378781', 'score': 0.26}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067574 67574585 67577258 0.96 [{'connected_gene': 'GADD45A', 'score': 12.93}, {'connected_gene': 'RNU6-1031P', 'score': 11.08}, {'connected_gene': 'LOC105378780', 'score': 0.39}, {'connected_gene': 'RN7SL392P', 'score': 0.18}]
chr1 GH01I067740 67740298 67742104 0.74 [{'connected_gene': 'GADD45A', 'score': 11.66}, {'connected_gene': 'RNU6-1031P', 'score': 9.91}, {'connected_gene': 'GNG12-AS1', 'score': 9.67}, {'connected_gene': 'GNG12', 'score': 9.67}, {'connected_gene': 'LOC105378781', 'score': 0.39}]
chr1 GH01I067755 67755958 67757064 0.31 [{'connected_gene': 'GADD45A', 'score': 11.89}, {'connected_gene': 'RNU6-1031P', 'score': 11.36}, {'connected_gene': 'GNG12-AS1', 'score': 10.67}, {'connected_gene': 'GNG12', 'score': 10.67}, {'connected_gene': 'LOC105378781', 'score': 0.77}, {'connected_gene': 'GC01M067773', 'score': 0.37}]
chr1 GH01I067580 67580039 67581428 0.59 [{'connected_gene': 'GADD45A', 'score': 11.4}, {'connected_gene': 'RNU6-1031P', 'score': 11.06}, {'connected_gene': 'RNU7-80P', 'score': 10.53}, {'connected_gene': 'LOC105378780', 'score': 0.37}, {'connected_gene': 'RN7SL392P', 'score': 0.18}]
chr1 GH01I067569 67569074 67574045 1.53 [{'connected_gene': 'GADD45A', 'score': 11.38}, {'connected_gene': 'RNU6-1031P', 'score': 11.08}, {'connected_gene': 'RNU7-80P', 'score': 10.91}, {'connected_gene': 'LOC105378780', 'score': 0.44}, {'connected_gene': 'RN7SL392P', 'score': 0.17}]
chr1 GH01I067703 67703509 67705474 0.38 [{'connected_gene': 'GADD45A', 'score': 0.37}, {'connected_gene': 'LOC105378781', 'score': 0.25}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067742 67742590 67745109 0.56 [{'connected_gene': 'GADD45A', 'score': 11.54}, {'connected_gene': 'LOC105378781', 'score': 0.39}, {'connected_gene': 'GNG12', 'score': 0.17}]
chr1 GH01I067707 67706278 67706427 0.63 [{'connected_gene': 'GADD45A', 'score': 0.34}, {'connected_gene': 'LOC105378781', 'score': 0.25}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067708 67708758 67708907 0.58 [{'connected_gene': 'GADD45A', 'score': 12.32}, {'connected_gene': 'LOC105378781', 'score': 0.25}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067691 67691698 67691847 0.68 [{'connected_gene': 'GADD45A', 'score': 0.44}, {'connected_gene': 'LOC105378781', 'score': 0.21}]
chr1 GH01I067694 67694859 67695672 0.89 [{'connected_gene': 'GADD45A', 'score': 0.39}, {'connected_gene': 'LOC105378781', 'score': 0.22}]
chr1 GH01I067598 67598782 67599935 0.31 [{'connected_gene': 'GADD45A', 'score': 10.95}, {'connected_gene': 'LOC105378780', 'score': 0.28}, {'connected_gene': 'RN7SL392P', 'score': 0.22}]
chr1 GH01I067652 67652418 67653521 1.16 [{'connected_gene': 'GADD45A', 'score': 13.24}, {'connected_gene': 'RNU7-80P', 'score': 10.74}, {'connected_gene': 'RN7SL392P', 'score': 0.77}, {'connected_gene': 'HNRNPCP9', 'score': 0.44}, {'connected_gene': 'LOC105378780', 'score': 0.16}]
chr1 GH01I067643 67643164 67647808 1.38 [{'connected_gene': 'GADD45A', 'score': 10.99}, {'connected_gene': 'RNU7-80P', 'score': 10.74}, {'connected_gene': 'RNU6-1031P', 'score': 9.76}, {'connected_gene': 'RN7SL392P', 'score': 0.39}, {'connected_gene': 'HNRNPCP9', 'score': 0.37}, {'connected_gene': 'LOC105378780', 'score': 0.18}]
chr1 GH01I067717 67717478 67718438 0.85 [{'connected_gene': 'GADD45A', 'score': 12.05}, {'connected_gene': 'RNU7-80P', 'score': 11.15}, {'connected_gene': 'RNU6-1031P', 'score': 10.33}, {'connected_gene': 'LOC105378781', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067745 67745371 67755891 1.62 [{'connected_gene': 'GADD45A', 'score': 12.52}, {'connected_gene': 'RNU7-80P', 'score': 12.22}, {'connected_gene': 'RNU6-1031P', 'score': 11.37}, {'connected_gene': 'GNG12-AS1', 'score': 10.66}, {'connected_gene': 'GNG12', 'score': 10.66}, {'connected_gene': 'LOC105378781', 'score': 0.77}]
chr1 GH01I067715 67715104 67716342 0.46 [{'connected_gene': 'GADD45A', 'score': 12.05}, {'connected_gene': 'RNU7-80P', 'score': 11.14}, {'connected_gene': 'LOC105378781', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067716 67716504 67717346 0.82 [{'connected_gene': 'GADD45A', 'score': 12.05}, {'connected_gene': 'RNU7-80P', 'score': 11.14}, {'connected_gene': 'LOC105378781', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067710 67710280 67712379 1.18 [{'connected_gene': 'GADD45A', 'score': 12.29}, {'connected_gene': 'RNU7-80P', 'score': 11.13}, {'connected_gene': 'LOC105378781', 'score': 0.26}, {'connected_gene': 'GNG12', 'score': 0.13}]
chr1 GH01I067534 67534228 67536433 1.43 [{'connected_gene': 'GADD45A', 'score': 11.15}, {'connected_gene': 'RNU7-80P', 'score': 10.93}, {'connected_gene': 'GNG12-AS1', 'score': 9.67}, {'connected_gene': 'GNG12', 'score': 9.67}, {'connected_gene': 'SLC35D1', 'score': 2.07}, {'connected_gene': 'GC01P067542', 'score': 0.44}, {'connected_gene': 'LINC01702', 'score': 0.39}]
chr1 GH01I067530 67530878 67531027 0.2 [{'connected_gene': 'GADD45A', 'score': 11.14}, {'connected_gene': 'RNU7-80P', 'score': 10.56}, {'connected_gene': 'GNG12-AS1', 'score': 9.66}, {'connected_gene': 'GNG12', 'score': 9.66}, {'connected_gene': 'LINC01702', 'score': 0.44}, {'connected_gene': 'GC01P067542', 'score': 0.39}]
chr1 GH01I067531 67531675 67533917 0.85 [{'connected_gene': 'GADD45A', 'score': 11.14}, {'connected_gene': 'RNU7-80P', 'score': 10.55}, {'connected_gene': 'GNG12-AS1', 'score': 9.67}, {'connected_gene': 'GNG12', 'score': 9.66}, {'connected_gene': 'GC01P067542', 'score': 0.44}, {'connected_gene': 'LINC01702', 'score': 0.39}]
chr1 GH01I067679 67679198 67680863 0.38 [{'connected_gene': 'GADD45A', 'score': 0.44}, {'connected_gene': 'HNRNPCP9', 'score': 0.37}]
chr1 GH01I067719 67719941 67720504 0.82 [{'connected_gene': 'LOC105378781', 'score': 0.29}, {'connected_gene': 'GADD45A', 'score': 0.28}, {'connected_gene': 'GNG12', 'score': 0.14}]
chr1 GH01I067521 67521585 67522679 0.69 [{'connected_gene': 'LINC01702', 'score': 550.77}, {'connected_gene': 'RNU7-80P', 'score': 11.3}, {'connected_gene': 'GADD45A', 'score': 10.05}, {'connected_gene': 'GC01P067513', 'score': 0.44}]
chr1 GH01I067674 67674188 67675727 1.24 [{'connected_gene': 'RNU7-80P', 'score': 10.4}, {'connected_gene': 'HNRNPCP9', 'score': 0.39}, {'connected_gene': 'GADD45A', 'score': 0.39}]
chr1 GH01I067668 67668425 67669482 0.54 [{'connected_gene': 'HNRNPCP9', 'score': 0.44}, {'connected_gene': 'GADD45A', 'score': 0.37}]
chr1 GH01I067664 67664158 67664307 0.78 [{'connected_gene': 'HNRNPCP9', 'score': 0.77}, {'connected_gene': 'GADD45A', 'score': 0.34}]
chr1 GH01I067513 67513665 67514970 0.85 [{'connected_gene': 'GC01P067513', 'score': 550.77}, {'connected_gene': 'RNU7-80P', 'score': 10.96}, {'connected_gene': 'RNU6-1031P', 'score': 10.63}, {'connected_gene': 'GADD45A', 'score': 10.6}, {'connected_gene': 'LINC01702', 'score': 0.44}]