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
ENST00000492039 [[68350067, 68350143], [68352336, 68352515], [68358408, 68358577], [68361833, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384505, 68384678]] None
ENST00000295121 [[68356934, 68358577], [68361833, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384392, 68384692]] [[68358369, 68358577], [68361833, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384392, 68384575]]
ENST00000457114 [[68358891, 68359137], [68361833, 68361931], [68364430, 68364565], [68365873, 68365917]] [[68359136, 68359137], [68361833, 68361931], [68364430, 68364565], [68365873, 68365917]]
ENST00000406245 [[68361215, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384505, 68384605]] [[68361832, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371828]]
ENST00000409164 [[68361221, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384392, 68384614]] [[68361832, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384392, 68384575]]
ENST00000468984 [[68374598, 68374699], [68384058, 68384681]] None
NM_138458 [[68357280, 68358577], [68361833, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384392, 68384692]] [[68358369, 68358577], [68361833, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384392, 68384575]]
NR_046234 [[68361215, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384505, 68384678]] None
NM_001256476 [[68361221, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384392, 68384692]] [[68361832, 68361931], [68364430, 68364565], [68365873, 68365989], [68368825, 68368927], [68371716, 68371847], [68374598, 68374699], [68384392, 68384575]]
Promoter
Chrom Start End Description
chr2 68384603 68384693 CAGE_peak_1_at_WDR92_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 GH02I068291 68291369 68291518 0.64 [{'connected_gene': 'PNO1', 'score': 10.71}, {'connected_gene': 'WDR92', 'score': 10.71}, {'connected_gene': 'CNRIP1', 'score': 0.31}, {'connected_gene': 'ENSG00000273398', 'score': 0.29}, {'connected_gene': 'LOC102724389', 'score': 0.26}, {'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 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 GH02I067671 67671689 67672030 0.7 [{'connected_gene': 'ETAA1', 'score': 23.84}, {'connected_gene': 'WDR92', 'score': 12.27}, {'connected_gene': 'GC02M067667', 'score': 0.77}, {'connected_gene': 'ENSG00000235495', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.28}]
chr2 GH02I068805 68805642 68810625 1.51 [{'connected_gene': 'PLEK', 'score': 15.67}, {'connected_gene': 'LINC01888', 'score': 13.25}, {'connected_gene': 'BMP10', 'score': 10.69}, {'connected_gene': 'WDR92', 'score': 9.82}, {'connected_gene': 'ARHGAP25', 'score': 8.53}, {'connected_gene': 'FBXO48', 'score': 6.48}, {'connected_gene': 'LINC01890', 'score': 5.09}, {'connected_gene': 'APLF', 'score': 2.72}, {'connected_gene': 'LOC105374790', 'score': 0.25}]
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 GH02I068120 68120413 68121851 1.45 [{'connected_gene': 'WDR92', 'score': 19.02}, {'connected_gene': 'PNO1', 'score': 11.94}, {'connected_gene': 'CNRIP1', 'score': 11.24}, {'connected_gene': 'C1D', 'score': 1.88}, {'connected_gene': 'PPIAP64', 'score': 0.77}, {'connected_gene': 'LOC105374789', 'score': 0.44}, {'connected_gene': 'GC02P067636', 'score': 0.04}]
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 GH02I068122 68122346 68122820 1 [{'connected_gene': 'WDR92', 'score': 17.88}, {'connected_gene': 'PNO1', 'score': 11.94}, {'connected_gene': 'PPIAP64', 'score': 0.77}, {'connected_gene': 'LOC105374789', 'score': 0.39}, {'connected_gene': 'GC02P067636', 'score': 0.04}]
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 GH02I068272 68272401 68272600 0.43 [{'connected_gene': 'WDR92', 'score': 7.43}, {'connected_gene': 'ENSG00000273398', 'score': 0.39}, {'connected_gene': 'LOC102724389', 'score': 0.31}, {'connected_gene': 'CNRIP1', 'score': 0.25}, {'connected_gene': 'GC02P067636', 'score': 0.03}]
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 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}]
chr2 GH02I068135 68135549 68135698 0.95 [{'connected_gene': 'GC02P068126', 'score': 0.39}, {'connected_gene': 'WDR92', 'score': 0.34}, {'connected_gene': 'ENSG00000273398', 'score': 0.13}, {'connected_gene': 'GC02P067636', 'score': 0.04}]

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