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
ENST00000540511 [[43186334, 43190072], [43190230, 43190380], [43190489, 43190625], [43190806, 43190973], [43191617, 43191734], [43192461, 43192611], [43192710, 43192857], [43193998, 43194151], [43195360, 43195505], [43195657, 43195859], [43196181, 43196410], [43197691, 43197821], [43198268, 43198497], [43198577, 43198739], [43209614, 43209865]] None
ENST00000322765 [[43189008, 43190072], [43190230, 43190380], [43190489, 43190625], [43190806, 43190973], [43191617, 43191734], [43192461, 43192546], [43192548, 43192611], [43192710, 43192857], [43193998, 43194151], [43195360, 43195509], [43195661, 43195859], [43196181, 43196410], [43197691, 43197822], [43198269, 43198497], [43198577, 43198739], [43209614, 43209891]] [[43189983, 43190072], [43190230, 43190380], [43190489, 43190625], [43190806, 43190973], [43191617, 43191734], [43192461, 43192546], [43192548, 43192611], [43192710, 43192857], [43193998, 43194151], [43195360, 43195509], [43195661, 43195859], [43196181, 43196410], [43197691, 43197822], [43198269, 43198497], [43198577, 43198739], [43209614, 43209777]]
ENST00000539433 [[43189670, 43190072], [43190489, 43190625], [43190806, 43190916]] [[43189983, 43190072], [43190489, 43190625], [43190806, 43190916]]
ENST00000543623 [[43189790, 43190072], [43190230, 43190380], [43190489, 43190625], [43190806, 43190956], [43191617, 43191734], [43192461, 43192496]] None
ENST00000544333 [[43190845, 43190973], [43191617, 43191734], [43192461, 43192710]] None
ENST00000545702 [[43190939, 43190973], [43191617, 43191734], [43192510, 43192611], [43192710, 43192745]] None
ENST00000412978 [[43191617, 43191734], [43192461, 43192611], [43192710, 43192953], [43193998, 43194078]] [[43192923, 43192953], [43193998, 43194078]]
ENST00000546350 [[43195422, 43195505], [43195657, 43195859], [43196181, 43196456]] None
ENST00000542173 [[43195620, 43195859], [43196181, 43196289]] None
ENST00000538988 [[43195738, 43195761], [43196181, 43196379]] [[43195738, 43195761], [43196181, 43196379]]
ENST00000590644 [[43197721, 43197821], [43198268, 43198497], [43198577, 43198739], [43210617, 43210721]] [[43197721, 43197821], [43198268, 43198497], [43198577, 43198739], [43210617, 43210711]]
ENST00000538093 [[43197802, 43197821], [43198268, 43198497], [43198577, 43198739], [43210444, 43210580]] [[43197802, 43197821], [43198268, 43198497], [43198577, 43198710]]
ENST00000544446 [[43198602, 43198739], [43206558, 43206653], [43209614, 43209885]] None
NM_133373 [[43189007, 43190072], [43190230, 43190380], [43190489, 43190625], [43190806, 43190973], [43191617, 43191734], [43192461, 43192549], [43192551, 43192611], [43192710, 43192857], [43193998, 43194151], [43195360, 43195505], [43195657, 43195859], [43196181, 43196410], [43197691, 43197821], [43198268, 43198497], [43198577, 43198739], [43209614, 43209900]] [[43189983, 43190072], [43190230, 43190380], [43190489, 43190625], [43190806, 43190973], [43191617, 43191734], [43192461, 43192549], [43192551, 43192611], [43192710, 43192857], [43193998, 43194151], [43195360, 43195505], [43195657, 43195859], [43196181, 43196410], [43197691, 43197821], [43198268, 43198497], [43198577, 43198739], [43209614, 43209777]]
Promoter
Chrom Start End Description
chr17 43209740 43209764 CAGE_peak_5_at_PLCD3_5end
chr17 43209862 43209896 CAGE_peak_1_at_PLCD3_5end
chr17 43209904 43209916 CAGE_peak_2_at_PLCD3_5end
chr17 43210588 43210600 CAGE_peak_7_at_PLCD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I045059 45059307 45064185 2.3 [{'connected_gene': 'DCAKD', 'score': 574.62}, {'connected_gene': 'PIR53442', 'score': 550.77}, {'connected_gene': 'NMT1', 'score': 550.39}, {'connected_gene': 'ENSG00000262372', 'score': 26.54}, {'connected_gene': 'ASB16-AS1', 'score': 24.33}, {'connected_gene': 'TMUB2', 'score': 20.59}, {'connected_gene': 'UBTF', 'score': 14.83}, {'connected_gene': 'C17orf53', 'score': 12.86}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.08}, {'connected_gene': 'LSM12', 'score': 11.78}, {'connected_gene': 'ENSG00000224505', 'score': 11.4}, {'connected_gene': 'GFAP', 'score': 11.08}, {'connected_gene': 'ENSG00000267344', 'score': 10.95}, {'connected_gene': 'C1QL1', 'score': 10.62}, {'connected_gene': 'EFTUD2', 'score': 10.51}, {'connected_gene': 'HEXIM2', 'score': 9.8}, {'connected_gene': 'PLCD3', 'score': 9.33}, {'connected_gene': 'GC17P045072', 'score': 0.44}]
chr17 GH17I045029 45029591 45032728 1.14 [{'connected_gene': 'DCAKD', 'score': 31.22}, {'connected_gene': 'NMT1', 'score': 12.34}, {'connected_gene': 'KIF18B', 'score': 11.66}, {'connected_gene': 'GFAP', 'score': 11.62}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.97}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'PLCD3', 'score': 8.92}, {'connected_gene': 'LRRC37A4P', 'score': 6.15}, {'connected_gene': 'GC17M045043', 'score': 0.39}, {'connected_gene': 'GC17M045006', 'score': 0.37}]
chr17 GH17I045098 45098268 45099652 0.86 [{'connected_gene': 'DCAKD', 'score': 25.68}, {'connected_gene': 'LINC02210', 'score': 10.76}, {'connected_gene': 'PLCD3', 'score': 10.13}, {'connected_gene': 'MIR6784', 'score': 0.37}, {'connected_gene': 'ENSG00000200888', 'score': 0.31}, {'connected_gene': 'NMT1', 'score': 0.25}]
chr17 GH17I045009 45009170 45011285 0.57 [{'connected_gene': 'DCAKD', 'score': 24.78}, {'connected_gene': 'KIF18B', 'score': 12.28}, {'connected_gene': 'C1QL1', 'score': 11.74}, {'connected_gene': 'EFTUD2', 'score': 11.66}, {'connected_gene': 'CCDC103', 'score': 11.66}, {'connected_gene': 'FAM187A', 'score': 11.66}, {'connected_gene': 'GFAP', 'score': 11.65}, {'connected_gene': 'NMT1', 'score': 11.45}, {'connected_gene': 'PLCD3', 'score': 7.97}, {'connected_gene': 'GC17M045006', 'score': 0.77}, {'connected_gene': 'GC17M044982', 'score': 0.31}]
chr17 GH17I045089 45089928 45094483 1.54 [{'connected_gene': 'DCAKD', 'score': 34.93}, {'connected_gene': 'PLCD3', 'score': 23.25}, {'connected_gene': 'GFAP', 'score': 16.99}, {'connected_gene': 'NMT1', 'score': 16.62}, {'connected_gene': 'ACBD4', 'score': 13.52}, {'connected_gene': 'HEXIM1', 'score': 13.48}, {'connected_gene': 'HIGD1B', 'score': 2.63}, {'connected_gene': 'ADAM11', 'score': 1.31}, {'connected_gene': 'MIR6784', 'score': 0.34}, {'connected_gene': 'ENSG00000200888', 'score': 0.34}]
chr17 GH17I045110 45110394 45112586 0.86 [{'connected_gene': 'DCAKD', 'score': 23.1}, {'connected_gene': 'PLCD3', 'score': 14.93}, {'connected_gene': 'HEXIM2', 'score': 4.88}, {'connected_gene': 'NMT1', 'score': 4.15}, {'connected_gene': 'MIR6784', 'score': 0.77}, {'connected_gene': 'ENSG00000200888', 'score': 0.26}]
chr17 GH17I045106 45106002 45109918 0.6 [{'connected_gene': 'DCAKD', 'score': 17.72}, {'connected_gene': 'PLCD3', 'score': 10.06}, {'connected_gene': 'RUNDC3A-AS1', 'score': 6.31}, {'connected_gene': 'NMT1', 'score': 5.21}, {'connected_gene': 'MIR6784', 'score': 0.44}, {'connected_gene': 'ENSG00000200888', 'score': 0.28}]
chr17 GH17I045018 45018401 45019800 1.27 [{'connected_gene': 'DCAKD', 'score': 15.81}, {'connected_gene': 'PLCD3', 'score': 8.9}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M045043', 'score': 0.31}]
chr17 GH17I045015 45015447 45017288 0.69 [{'connected_gene': 'DCAKD', 'score': 7.73}, {'connected_gene': 'PLCD3', 'score': 6.02}, {'connected_gene': 'GC17M045006', 'score': 0.77}, {'connected_gene': 'GC17M045043', 'score': 0.31}]
chr17 GH17I045121 45121975 45125929 1.64 [{'connected_gene': 'ACBD4', 'score': 20.55}, {'connected_gene': 'ENSG00000262372', 'score': 13.91}, {'connected_gene': 'UBTF', 'score': 12.78}, {'connected_gene': 'HEXIM2', 'score': 11.44}, {'connected_gene': 'ENSG00000224505', 'score': 11.44}, {'connected_gene': 'ASB16-AS1', 'score': 11.3}, {'connected_gene': 'DCAKD', 'score': 9.46}, {'connected_gene': 'PLCD3', 'score': 9.3}, {'connected_gene': 'SLC25A39', 'score': 5.07}, {'connected_gene': 'MIR6784', 'score': 0.44}]
chr17 GH17I045134 45134934 45136828 2.09 [{'connected_gene': 'ACBD4', 'score': 571.58}, {'connected_gene': 'ASB16-AS1', 'score': 24.33}, {'connected_gene': 'ENSG00000262372', 'score': 17.51}, {'connected_gene': 'UBTF', 'score': 14.83}, {'connected_gene': 'TMUB2', 'score': 12.19}, {'connected_gene': 'GPATCH8', 'score': 10.04}, {'connected_gene': 'PLCD3', 'score': 0.77}, {'connected_gene': 'HEXIM1', 'score': 0.39}]
chr17 GH17I045126 45126603 45133601 2.29 [{'connected_gene': 'ACBD4', 'score': 571.21}, {'connected_gene': 'PLCD3', 'score': 559.53}, {'connected_gene': 'ENSG00000262372', 'score': 47.29}, {'connected_gene': 'ASB16-AS1', 'score': 41.51}, {'connected_gene': 'UBTF', 'score': 30.22}, {'connected_gene': 'TMUB2', 'score': 22.85}, {'connected_gene': 'LINC02210', 'score': 19.13}, {'connected_gene': 'ENSG00000224505', 'score': 14.75}, {'connected_gene': 'DCAKD', 'score': 12.99}, {'connected_gene': 'GPATCH8', 'score': 9.65}, {'connected_gene': 'RUNDC3A-AS1', 'score': 7.14}, {'connected_gene': 'ENSG00000266918', 'score': 6.38}, {'connected_gene': 'GJC1', 'score': 4.93}, {'connected_gene': 'DND1P1', 'score': 4.09}, {'connected_gene': 'MIR6784', 'score': 0.37}]
chr17 GH17I045152 45152756 45153149 0.36 [{'connected_gene': 'FMNL1', 'score': 11.44}, {'connected_gene': 'PLCD3', 'score': 5.58}, {'connected_gene': 'ENSG00000276728', 'score': 0.77}, {'connected_gene': 'HEXIM2', 'score': 0.44}, {'connected_gene': 'ENSG00000224505', 'score': 0.44}]
chr17 GH17I044586 44586697 44588579 1 [{'connected_gene': 'FZD2', 'score': 11.49}, {'connected_gene': 'MEIOC', 'score': 11.21}, {'connected_gene': 'FAM171A2', 'score': 10.55}, {'connected_gene': 'GFAP', 'score': 9.38}, {'connected_gene': 'FAM187A', 'score': 6.18}, {'connected_gene': 'PLCD3', 'score': 5.56}, {'connected_gene': 'ENSG00000271222', 'score': 0.44}, {'connected_gene': 'GC17M044558', 'score': 0.31}]
chr17 GH17I045155 45155201 45156125 0.92 [{'connected_gene': 'PLCD3', 'score': 12.38}, {'connected_gene': 'ACBD4', 'score': 12.38}, {'connected_gene': 'FMNL1', 'score': 11.49}, {'connected_gene': 'GPATCH8', 'score': 10.72}, {'connected_gene': 'HEXIM2', 'score': 0.77}, {'connected_gene': 'ENSG00000276728', 'score': 0.44}, {'connected_gene': 'ENSG00000224505', 'score': 0.44}]
chr17 GH17I045101 45101217 45104302 1.09 [{'connected_gene': 'PLCD3', 'score': 10.01}, {'connected_gene': 'MIR6784', 'score': 0.39}, {'connected_gene': 'ENSG00000200888', 'score': 0.29}, {'connected_gene': 'NMT1', 'score': 0.23}]
chr17 GH17I045200 45200536 45202652 1.12 [{'connected_gene': 'HEXIM1', 'score': 12.74}, {'connected_gene': 'ACBD4', 'score': 12.71}, {'connected_gene': 'PLCD3', 'score': 12.71}, {'connected_gene': 'DCAKD', 'score': 7.67}, {'connected_gene': 'LRRC37A4P', 'score': 6.59}, {'connected_gene': 'ENSG00000233483', 'score': 5.35}, {'connected_gene': 'DND1P1', 'score': 4.83}, {'connected_gene': 'ENSG00000233175', 'score': 4.78}, {'connected_gene': 'LINC02210', 'score': 4.73}, {'connected_gene': 'ENSG00000267405', 'score': 4.5}, {'connected_gene': 'SLC25A39', 'score': 4.07}, {'connected_gene': 'GC17P045196', 'score': 0.44}, {'connected_gene': 'FMNL1', 'score': 0.37}, {'connected_gene': 'LOC339192', 'score': 0.34}]
chr17 GH17I045143 45143150 45152743 2.65 [{'connected_gene': 'HEXIM1', 'score': 581.29}, {'connected_gene': 'GC17M045149', 'score': 550.77}, {'connected_gene': 'ENSG00000276728', 'score': 550.77}, {'connected_gene': 'ENSG00000262372', 'score': 138.63}, {'connected_gene': 'ASB16-AS1', 'score': 125.41}, {'connected_gene': 'UBTF', 'score': 110.84}, {'connected_gene': 'TMUB2', 'score': 94.15}, {'connected_gene': 'ENSG00000224505', 'score': 44.16}, {'connected_gene': 'LINC02210', 'score': 40.81}, {'connected_gene': 'MAP3K14-AS1', 'score': 29.68}, {'connected_gene': 'EFTUD2', 'score': 27.46}, {'connected_gene': 'ENSG00000260793', 'score': 24.07}, {'connected_gene': 'DCAKD', 'score': 21.93}, {'connected_gene': 'LRRC37A4P', 'score': 18.18}, {'connected_gene': 'ENSG00000266918', 'score': 16.98}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'FMNL1', 'score': 11.43}, {'connected_gene': 'ENSG00000233175', 'score': 11.36}, {'connected_gene': 'ENSG00000267160', 'score': 11.12}, {'connected_gene': 'DBF4B', 'score': 11.02}, {'connected_gene': 'ENSG00000267344', 'score': 10.96}, {'connected_gene': 'NMT1', 'score': 10.59}, {'connected_gene': 'GPATCH8', 'score': 10.31}, {'connected_gene': 'ADAM11', 'score': 9.87}, {'connected_gene': 'PLCD3', 'score': 5.62}, {'connected_gene': 'SLC25A39', 'score': 5.42}, {'connected_gene': 'MAPK8IP1P2', 'score': 4.59}, {'connected_gene': 'ENSG00000267505', 'score': 4.54}, {'connected_gene': 'ACBD4', 'score': 1.95}]
chr17 GH17I045168 45168842 45174627 1.64 [{'connected_gene': 'LOC105371795', 'score': 557.31}, {'connected_gene': 'LINC02210', 'score': 18.24}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'UBTF', 'score': 9.85}, {'connected_gene': 'GPATCH8', 'score': 9.65}, {'connected_gene': 'HEXIM1', 'score': 8.84}, {'connected_gene': 'SLC25A39', 'score': 6.45}, {'connected_gene': 'PLCD3', 'score': 6.1}, {'connected_gene': 'DBF4B', 'score': 5.45}, {'connected_gene': 'ADAM11', 'score': 2.55}, {'connected_gene': 'HIGD1B', 'score': 1.48}, {'connected_gene': 'GFAP', 'score': 1.32}, {'connected_gene': 'HEXIM2', 'score': 0.39}, {'connected_gene': 'ENSG00000224505', 'score': 0.39}]
chr17 GH17I045115 45115974 45116123 0.38 [{'connected_gene': 'MIR6784', 'score': 550.77}, {'connected_gene': 'PLCD3', 'score': 0.37}, {'connected_gene': 'ACBD4', 'score': 0.37}]
chr17 GH17I045114 45114077 45114948 0.46 [{'connected_gene': 'MIR6784', 'score': 550.77}, {'connected_gene': 'PLCD3', 'score': 0.37}, {'connected_gene': 'ACBD4', 'score': 0.37}]
chr17 GH17I045042 45042716 45049469 1.34 [{'connected_gene': 'GC17M045043', 'score': 550.77}, {'connected_gene': 'UBTF', 'score': 71.79}, {'connected_gene': 'ENSG00000262372', 'score': 70.33}, {'connected_gene': 'ASB16-AS1', 'score': 65.74}, {'connected_gene': 'TMUB2', 'score': 35.58}, {'connected_gene': 'DCAKD', 'score': 25.87}, {'connected_gene': 'ENSG00000266918', 'score': 19.22}, {'connected_gene': 'ENSG00000224505', 'score': 12.5}, {'connected_gene': 'GPATCH8', 'score': 10.31}, {'connected_gene': 'LINC02210', 'score': 9.84}, {'connected_gene': 'PLCD3', 'score': 8.8}, {'connected_gene': 'GJC1', 'score': 5.83}, {'connected_gene': 'NMT1', 'score': 0.44}]
chr17 GH17I045196 45196785 45198703 1.25 [{'connected_gene': 'ENSG00000262372', 'score': 22.28}, {'connected_gene': 'UBTF', 'score': 14.35}, {'connected_gene': 'HEXIM1', 'score': 12.74}, {'connected_gene': 'PLCD3', 'score': 12.72}, {'connected_gene': 'ACBD4', 'score': 12.71}, {'connected_gene': 'ENSG00000224505', 'score': 12.65}, {'connected_gene': 'DCAKD', 'score': 7.37}, {'connected_gene': 'ENSG00000233483', 'score': 4.86}, {'connected_gene': 'ENSG00000267405', 'score': 4.77}, {'connected_gene': 'GC17P045196', 'score': 0.77}, {'connected_gene': 'FMNL1', 'score': 0.34}, {'connected_gene': 'LOC339192', 'score': 0.34}]
chr17 GH17I045157 45157765 45163130 2.34 [{'connected_gene': 'ENSG00000224505', 'score': 572.0}, {'connected_gene': 'HEXIM2', 'score': 560.42}, {'connected_gene': 'ENSG00000262372', 'score': 38.9}, {'connected_gene': 'UBTF', 'score': 30.26}, {'connected_gene': 'TMUB2', 'score': 24.48}, {'connected_gene': 'ASB16-AS1', 'score': 23.08}, {'connected_gene': 'MAP3K14-AS1', 'score': 21.41}, {'connected_gene': 'EFTUD2', 'score': 18.7}, {'connected_gene': 'PLCD3', 'score': 12.35}, {'connected_gene': 'ACBD4', 'score': 12.35}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'HEXIM1', 'score': 11.8}, {'connected_gene': 'FMNL1', 'score': 11.5}, {'connected_gene': 'ENSG00000267160', 'score': 11.12}, {'connected_gene': 'NMT1', 'score': 10.58}, {'connected_gene': 'LINC02210', 'score': 10.24}, {'connected_gene': 'ADAM11', 'score': 9.87}, {'connected_gene': 'DCAKD', 'score': 9.82}, {'connected_gene': 'ENSG00000266918', 'score': 5.91}, {'connected_gene': 'ENSG00000267505', 'score': 4.44}]
chr17 GH17I045012 45012695 45013976 0.99 [{'connected_gene': 'GC17M045006', 'score': 550.77}, {'connected_gene': 'PLCD3', 'score': 7.4}, {'connected_gene': 'DCAKD', 'score': 6.15}, {'connected_gene': 'GC17M044982', 'score': 0.29}]
chr17 GH17I045070 45070540 45071993 0.2 [{'connected_gene': 'GC17P045072', 'score': 550.77}, {'connected_gene': 'ENSG00000200888', 'score': 550.77}, {'connected_gene': 'PLCD3', 'score': 9.81}, {'connected_gene': 'PIR53442', 'score': 0.44}, {'connected_gene': 'NMT1', 'score': 0.37}]

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