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
ENST00000353214 [[127624408, 127624677], [127626266, 127626386], [127630706, 127631718], [127635970, 127636043], [127637253, 127637430], [127639156, 127640003]] [[127631569, 127631718], [127635970, 127636043], [127637253, 127637430], [127639156, 127639219]]
ENST00000259477 [[127631483, 127631718], [127635970, 127636043], [127637253, 127637430], [127639156, 127639996]] [[127631569, 127631718], [127635970, 127636043], [127637253, 127637430], [127639156, 127639219]]
ENST00000465124 [[127634867, 127636043], [127637253, 127637430], [127639156, 127639680]] None
NM_030978 [[127624396, 127624677], [127626266, 127626386], [127630706, 127631718], [127635970, 127636043], [127637253, 127637430], [127639156, 127640012]] [[127631569, 127631718], [127635970, 127636043], [127637253, 127637430], [127639156, 127639219]]
Promoter
Chrom Start End Description
chr9 127624387 127624418 CAGE_peak_2_at_ARPC5L_5end
chr9 127631342 127631348 CAGE_peak_8_at_ARPC5L_5end
chr9 127631399 127631529 CAGE_peak_1_at_ARPC5L_5end
chr9 127635073 127635077 CAGE_peak_7_at_ARPC5L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I124880 124880928 124881759 0.31 [{'connected_gene': 'ARPC5L', 'score': 13.02}, {'connected_gene': 'WDR38', 'score': 12.15}, {'connected_gene': 'OLFML2A', 'score': 11.68}, {'connected_gene': 'GOLGA1', 'score': 10.51}, {'connected_gene': 'PPP6C', 'score': 4.35}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09M124888', 'score': 0.44}]
chr9 GH09I124849 124849558 124850466 0.83 [{'connected_gene': 'ARPC5L', 'score': 14.06}, {'connected_gene': 'WDR38', 'score': 0.77}, {'connected_gene': 'PIR55692', 'score': 0.28}]
chr9 GH09I124817 124817738 124819676 1.34 [{'connected_gene': 'ARPC5L', 'score': 5.8}, {'connected_gene': 'WDR38', 'score': 4.67}, {'connected_gene': 'PIR55692', 'score': 0.44}]
chr9 GH09I124866 124866720 124874711 2.25 [{'connected_gene': 'ARPC5L', 'score': 564.21}, {'connected_gene': 'GOLGA1', 'score': 14.44}, {'connected_gene': 'GAPVD1', 'score': 13.61}, {'connected_gene': 'PRPS1P2', 'score': 12.75}, {'connected_gene': 'NR6A1', 'score': 11.96}, {'connected_gene': 'ENSG00000236643', 'score': 11.95}, {'connected_gene': 'SCAI', 'score': 4.69}, {'connected_gene': 'RNU4-82P', 'score': 0.37}, {'connected_gene': 'GC09M124888', 'score': 0.37}]
chr9 GH09I124831 124831464 124833362 1.29 [{'connected_gene': 'ARPC5L', 'score': 8.94}, {'connected_gene': 'OLFML2A', 'score': 5.28}, {'connected_gene': 'PIR55692', 'score': 0.34}, {'connected_gene': 'WDR38', 'score': 0.34}]
chr9 GH09I124834 124834077 124836335 1.22 [{'connected_gene': 'ARPC5L', 'score': 8.05}, {'connected_gene': 'OLFML2A', 'score': 6.49}, {'connected_gene': 'WDR38', 'score': 0.37}, {'connected_gene': 'PIR55692', 'score': 0.34}]
chr9 GH09I124894 124894682 124894891 0.66 [{'connected_gene': 'ARPC5L', 'score': 12.24}, {'connected_gene': 'RPL35', 'score': 12.24}, {'connected_gene': 'WDR38', 'score': 12.21}, {'connected_gene': 'RABEPK', 'score': 10.45}, {'connected_gene': 'RPSAP76', 'score': 10.45}, {'connected_gene': 'GC09M124888', 'score': 0.44}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09P124941', 'score': 0.25}, {'connected_gene': 'GOLGA1', 'score': 0.23}]
chr9 GH09I124897 124897373 124898395 0.82 [{'connected_gene': 'ARPC5L', 'score': 26.77}, {'connected_gene': 'RPL35', 'score': 12.22}, {'connected_gene': 'WDR38', 'score': 12.21}, {'connected_gene': 'RPSAP76', 'score': 10.45}, {'connected_gene': 'RABEPK', 'score': 10.45}, {'connected_gene': 'GOLGA1', 'score': 8.57}, {'connected_gene': 'GC09M124888', 'score': 0.39}, {'connected_gene': 'RNU4-82P', 'score': 0.39}, {'connected_gene': 'GC09P124941', 'score': 0.26}]
chr9 GH09I124857 124857802 124857951 0.43 [{'connected_gene': 'ARPC5L', 'score': 15.0}, {'connected_gene': 'RPL35', 'score': 0.77}, {'connected_gene': 'WDR38', 'score': 0.77}]
chr9 GH09I124839 124839371 124841933 1.03 [{'connected_gene': 'ARPC5L', 'score': 23.88}, {'connected_gene': 'RPL35', 'score': 12.8}, {'connected_gene': 'GOLGA1', 'score': 7.42}, {'connected_gene': 'OLFML2A', 'score': 5.07}, {'connected_gene': 'WDR38', 'score': 0.39}, {'connected_gene': 'PIR55692', 'score': 0.29}]
chr9 GH09I124858 124858023 124864492 2.25 [{'connected_gene': 'ARPC5L', 'score': 565.01}, {'connected_gene': 'RPL35', 'score': 550.77}, {'connected_gene': 'GAPVD1', 'score': 19.93}, {'connected_gene': 'GOLGA1', 'score': 16.89}, {'connected_gene': 'PRPS1P2', 'score': 13.73}, {'connected_gene': 'RABEPK', 'score': 6.29}, {'connected_gene': 'WDR38', 'score': 0.44}]
chr9 GH09I124620 124620396 124623068 1.11 [{'connected_gene': 'ARPC5L', 'score': 1.23}, {'connected_gene': 'RN7SL302P', 'score': 0.39}, {'connected_gene': 'MIR181A2HG', 'score': 0.28}, {'connected_gene': 'NR6A1', 'score': 0.11}]
chr9 GH09I125529 125529602 125531200 0.74 [{'connected_gene': 'ARPC5L', 'score': 4.16}, {'connected_gene': 'LOC102723468', 'score': 0.44}, {'connected_gene': 'GC09P125521', 'score': 0.44}, {'connected_gene': 'MAPKAP1', 'score': 0.1}]
chr9 GH09I125523 125523801 125528628 0.8 [{'connected_gene': 'MAPKAP1', 'score': 5.47}, {'connected_gene': 'PBX3', 'score': 5.22}, {'connected_gene': 'ARPC5L', 'score': 4.16}, {'connected_gene': 'GC09P125521', 'score': 0.77}, {'connected_gene': 'LOC102723468', 'score': 0.39}]
chr9 GH09I125652 125652801 125657129 1.15 [{'connected_gene': 'PBX3', 'score': 7.29}, {'connected_gene': 'ARPC5L', 'score': 4.16}, {'connected_gene': 'MAPKAP1', 'score': 0.23}, {'connected_gene': 'HNRNPA1P15', 'score': 0.22}]
chr9 GH09I125673 125673846 125676670 1.2 [{'connected_gene': 'PBX3', 'score': 15.75}, {'connected_gene': 'LOC51145', 'score': 10.41}, {'connected_gene': 'ARPC5L', 'score': 4.2}, {'connected_gene': 'MAPKAP1', 'score': 0.29}, {'connected_gene': 'HNRNPA1P15', 'score': 0.18}]
chr9 GH09I125555 125555069 125557829 0.38 [{'connected_gene': 'PBX3', 'score': 14.84}, {'connected_gene': 'LOC51145', 'score': 9.71}, {'connected_gene': 'ARPC5L', 'score': 4.7}, {'connected_gene': 'LOC105376272', 'score': 0.39}, {'connected_gene': 'LOC102723468', 'score': 0.37}, {'connected_gene': 'MAPKAP1', 'score': 0.1}]
chr9 GH09I124617 124617107 124619051 1 [{'connected_gene': 'MIR181A2', 'score': 11.01}, {'connected_gene': 'MIR181B2', 'score': 11.0}, {'connected_gene': 'ARPC5L', 'score': 10.72}, {'connected_gene': 'RPL35', 'score': 10.72}, {'connected_gene': 'WDR38', 'score': 10.72}, {'connected_gene': 'ENSG00000231149', 'score': 10.5}, {'connected_gene': 'NR5A1', 'score': 10.48}, {'connected_gene': 'RN7SL302P', 'score': 0.39}, {'connected_gene': 'MIR181A2HG', 'score': 0.26}, {'connected_gene': 'NR6A1', 'score': 0.1}]
chr9 GH09I124720 124720250 124722226 1.1 [{'connected_gene': 'MIR181A2', 'score': 12.22}, {'connected_gene': 'MIR181B2', 'score': 12.22}, {'connected_gene': 'ENSG00000236643', 'score': 11.62}, {'connected_gene': 'NR6A1', 'score': 11.6}, {'connected_gene': 'WDR38', 'score': 11.04}, {'connected_gene': 'ARPC5L', 'score': 11.04}, {'connected_gene': 'RPL35', 'score': 11.04}, {'connected_gene': 'ENSG00000231149', 'score': 10.3}, {'connected_gene': 'NR5A1', 'score': 10.3}, {'connected_gene': 'GC09P124694', 'score': 0.31}]
chr9 GH09I124851 124851700 124854167 2.19 [{'connected_gene': 'WDR38', 'score': 550.77}, {'connected_gene': 'ARPC5L', 'score': 14.47}, {'connected_gene': 'OLFML2A', 'score': 4.22}, {'connected_gene': 'PIR55692', 'score': 0.26}]
chr9 GH09I124766 124766801 124767000 0.56 [{'connected_gene': 'WDR38', 'score': 11.63}, {'connected_gene': 'ARPC5L', 'score': 11.62}, {'connected_gene': 'RPL35', 'score': 11.62}, {'connected_gene': 'NR6A1', 'score': 0.77}, {'connected_gene': 'ENSG00000236643', 'score': 0.77}, {'connected_gene': 'GC09P124694', 'score': 0.19}]
chr9 GH09I124795 124795022 124798471 1.24 [{'connected_gene': 'WDR38', 'score': 12.09}, {'connected_gene': 'ARPC5L', 'score': 12.07}, {'connected_gene': 'RPL35', 'score': 12.07}, {'connected_gene': 'GAPVD1', 'score': 10.18}, {'connected_gene': 'RNU6-1020P', 'score': 10.16}, {'connected_gene': 'MIR181A2HG', 'score': 8.44}, {'connected_gene': 'PIR55692', 'score': 0.39}, {'connected_gene': 'OLFML2A', 'score': 0.37}]
chr9 GH09I124756 124756798 124762156 1.02 [{'connected_gene': 'WDR38', 'score': 11.79}, {'connected_gene': 'ARPC5L', 'score': 11.78}, {'connected_gene': 'RPL35', 'score': 11.78}, {'connected_gene': 'MIR181A2HG', 'score': 7.2}, {'connected_gene': 'NR6A1', 'score': 0.39}, {'connected_gene': 'ENSG00000236643', 'score': 0.39}, {'connected_gene': 'GC09P124694', 'score': 0.2}]
chr9 GH09I124774 124774324 124775000 1.05 [{'connected_gene': 'WDR38', 'score': 13.58}, {'connected_gene': 'ARPC5L', 'score': 13.57}, {'connected_gene': 'RPL35', 'score': 13.57}, {'connected_gene': 'MIR181A2HG', 'score': 8.32}, {'connected_gene': 'OLFML2A', 'score': 0.77}, {'connected_gene': 'NR6A1', 'score': 0.77}]
chr9 GH09I124881 124880413 124880823 0.51 [{'connected_gene': 'WDR38', 'score': 12.15}, {'connected_gene': 'OLFML2A', 'score': 11.68}, {'connected_gene': 'GOLGA1', 'score': 10.38}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09M124888', 'score': 0.44}, {'connected_gene': 'ARPC5L', 'score': 0.37}]
chr9 GH09I124933 124933661 124935590 0.43 [{'connected_gene': 'SCAI', 'score': 11.12}, {'connected_gene': 'ARPC5L', 'score': 10.91}, {'connected_gene': 'RPL35', 'score': 10.91}, {'connected_gene': 'WDR38', 'score': 10.9}, {'connected_gene': 'PPP6C', 'score': 10.51}, {'connected_gene': 'GC09P124941', 'score': 0.44}, {'connected_gene': 'GOLGA1', 'score': 0.39}, {'connected_gene': 'GC09M124888', 'score': 0.25}, {'connected_gene': 'RNU4-82P', 'score': 0.25}]
chr9 GH09I124973 124973742 124974185 0.6 [{'connected_gene': 'SCAI', 'score': 11.72}, {'connected_gene': 'ARPC5L', 'score': 10.74}, {'connected_gene': 'RPL35', 'score': 10.74}, {'connected_gene': 'WDR38', 'score': 10.73}, {'connected_gene': 'PPP6C', 'score': 10.34}, {'connected_gene': 'FXNP2', 'score': 0.44}, {'connected_gene': 'GC09M125042', 'score': 0.19}]
chr9 GH09I124772 124772582 124772631 0.38 [{'connected_gene': 'NR6A1', 'score': 550.77}, {'connected_gene': 'WDR38', 'score': 13.58}, {'connected_gene': 'ARPC5L', 'score': 13.57}, {'connected_gene': 'RPL35', 'score': 13.57}, {'connected_gene': 'OLFML2A', 'score': 0.77}, {'connected_gene': 'ENSG00000236643', 'score': 0.77}]
chr9 GH09I124747 124747194 124747529 0.39 [{'connected_gene': 'NR6A1', 'score': 12.31}, {'connected_gene': 'ENSG00000236643', 'score': 12.31}, {'connected_gene': 'WDR38', 'score': 10.99}, {'connected_gene': 'ARPC5L', 'score': 10.99}, {'connected_gene': 'RPL35', 'score': 10.99}, {'connected_gene': 'GC09P124694', 'score': 0.23}]
chr9 GH09I124742 124742926 124744824 0.8 [{'connected_gene': 'NR6A1', 'score': 12.28}, {'connected_gene': 'ENSG00000236643', 'score': 12.28}, {'connected_gene': 'WDR38', 'score': 10.99}, {'connected_gene': 'ARPC5L', 'score': 10.98}, {'connected_gene': 'RPL35', 'score': 10.98}, {'connected_gene': 'GC09P124694', 'score': 0.23}]
chr9 GH09I124711 124711800 124712400 1.11 [{'connected_gene': 'NR6A1', 'score': 11.59}, {'connected_gene': 'ENSG00000236643', 'score': 11.59}, {'connected_gene': 'RPL35', 'score': 11.04}, {'connected_gene': 'WDR38', 'score': 11.04}, {'connected_gene': 'ARPC5L', 'score': 11.03}, {'connected_gene': 'MIR181A2HG', 'score': 6.63}, {'connected_gene': 'GC09P124694', 'score': 0.37}]
chr9 GH09I125374 125374401 125375183 0.96 [{'connected_gene': 'GAPVD1', 'score': 25.57}, {'connected_gene': 'RNU6-1020P', 'score': 11.26}, {'connected_gene': 'RPSAP76', 'score': 10.79}, {'connected_gene': 'RABEPK', 'score': 10.79}, {'connected_gene': 'ARPC5L', 'score': 10.41}, {'connected_gene': 'RPL35', 'score': 10.41}, {'connected_gene': 'WDR38', 'score': 10.41}, {'connected_gene': 'PPP6C', 'score': 9.86}, {'connected_gene': 'ENSG00000227845', 'score': 0.77}, {'connected_gene': 'GC09P125379', 'score': 0.77}]
chr9 GH09I124799 124799642 124802984 1.49 [{'connected_gene': 'OLFML2A', 'score': 561.52}, {'connected_gene': 'WDR38', 'score': 12.1}, {'connected_gene': 'ARPC5L', 'score': 12.08}, {'connected_gene': 'RPL35', 'score': 12.08}, {'connected_gene': 'GAPVD1', 'score': 10.18}, {'connected_gene': 'RNU6-1020P', 'score': 10.16}, {'connected_gene': 'MIR181A2HG', 'score': 7.47}, {'connected_gene': 'PIR55692', 'score': 0.44}]
chr9 GH09I124964 124964134 124966571 1.1 [{'connected_gene': 'PRPS1P2', 'score': 15.59}, {'connected_gene': 'ARPC5L', 'score': 12.28}, {'connected_gene': 'GAPVD1', 'score': 9.81}, {'connected_gene': 'FXNP2', 'score': 0.77}, {'connected_gene': 'GC09M124947', 'score': 0.37}, {'connected_gene': 'GOLGA1', 'score': 0.37}, {'connected_gene': 'SCAI', 'score': 0.1}]
chr9 GH09I124939 124939808 124942809 2.07 [{'connected_gene': 'GC09P124941', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 550.44}, {'connected_gene': 'ARPC5L', 'score': 14.3}, {'connected_gene': 'SCAI', 'score': 10.67}, {'connected_gene': 'PPP6C', 'score': 9.92}, {'connected_gene': 'GAPVD1', 'score': 6.46}, {'connected_gene': 'GC09M124944', 'score': 0.77}]
chr9 GH09I124768 124768904 124772401 2.11 [{'connected_gene': 'ENSG00000236643', 'score': 550.77}, {'connected_gene': 'NR6A1', 'score': 550.77}, {'connected_gene': 'PRPS1P2', 'score': 39.61}, {'connected_gene': 'GAPVD1', 'score': 21.07}, {'connected_gene': 'GOLGA1', 'score': 20.18}, {'connected_gene': 'WDR38', 'score': 13.58}, {'connected_gene': 'ARPC5L', 'score': 13.56}, {'connected_gene': 'RPL35', 'score': 13.56}, {'connected_gene': 'MIR181A2HG', 'score': 7.75}]

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