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
ENST00000307275 [[43238066, 43238310], [43239854, 43240002], [43240116, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
ENST00000585340 [[43238096, 43238310], [43240116, 43240226], [43246381, 43246860]] [[43238288, 43238310], [43240116, 43240226], [43246381, 43246860]]
ENST00000593138 [[43238444, 43238615], [43240116, 43240226], [43246381, 43246681]] [[43240160, 43240226], [43246381, 43246681]]
ENST00000586681 [[43238460, 43238767], [43240116, 43240226], [43246381, 43246747]] [[43240160, 43240226], [43246381, 43246747]]
ENST00000589230 [[43239211, 43239398], [43239854, 43240002], [43240116, 43240226], [43246381, 43246732]] [[43240160, 43240226], [43246381, 43246732]]
ENST00000591576 [[43239261, 43239306], [43240116, 43240226], [43246381, 43247402]] [[43240160, 43240226], [43246381, 43247176]]
ENST00000591070 [[43239262, 43239306], [43239854, 43240002], [43240116, 43240226], [43246381, 43246552]] [[43240160, 43240226], [43246381, 43246552]]
ENST00000592695 [[43239283, 43239398], [43240116, 43240226], [43246381, 43247402]] [[43240160, 43240226], [43246381, 43247176]]
NM_001303436 [[43237540, 43238310], [43240116, 43240226], [43246381, 43247407]] [[43238288, 43238310], [43240116, 43240226], [43246381, 43247176]]
NM_144608 [[43237540, 43238310], [43239854, 43240002], [43240116, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
NM_001303438 [[43237540, 43238615], [43240116, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
NM_001303437 [[43237540, 43238615], [43239854, 43240002], [43240116, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
NM_001303439 [[43237540, 43238767], [43240116, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
NM_001303440 [[43239211, 43239398], [43240116, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
NM_001303441 [[43239211, 43239398], [43239854, 43240002], [43240116, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
NM_001303442 [[43239225, 43239306], [43240116, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
NM_001303444 [[43239225, 43239306], [43240113, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
NM_001303443 [[43239225, 43239306], [43239854, 43240002], [43240116, 43240226], [43246381, 43247407]] [[43240160, 43240226], [43246381, 43247176]]
Promoter
Chrom Start End Description
chr17 43238061 43238087 CAGE_peak_2_at_HEXIM2_5end
chr17 43239191 43239206 CAGE_peak_4_at_HEXIM2_5end
chr17 43239231 43239297 CAGE_peak_1_at_HEXIM2_5end
chr17 43239310 43239321 CAGE_peak_5_at_HEXIM2_5end
chr17 43239326 43239334 CAGE_peak_6_at_HEXIM2_5end
chr17 43239336 43239347 CAGE_peak_7_at_HEXIM2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I045164 45164617 45166103 1.25 [{'connected_gene': 'DCAKD', 'score': 11.64}, {'connected_gene': 'ENSG00000260793', 'score': 11.46}, {'connected_gene': 'TMUB2', 'score': 10.31}, {'connected_gene': 'ENSG00000267505', 'score': 5.32}, {'connected_gene': 'ENSG00000224505', 'score': 0.77}, {'connected_gene': 'HEXIM2', 'score': 0.44}, {'connected_gene': 'LOC105371795', 'score': 0.44}]
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 GH17I045020 45020155 45022693 1.36 [{'connected_gene': 'DCAKD', 'score': 27.36}, {'connected_gene': 'NMT1', 'score': 12.2}, {'connected_gene': 'C1QL1', 'score': 11.87}, {'connected_gene': 'GFAP', 'score': 11.7}, {'connected_gene': 'EFTUD2', 'score': 11.59}, {'connected_gene': 'CCDC103', 'score': 11.59}, {'connected_gene': 'FAM187A', 'score': 11.59}, {'connected_gene': 'KIF18B', 'score': 11.34}, {'connected_gene': 'HEXIM2', 'score': 11.08}, {'connected_gene': 'ENSG00000224505', 'score': 11.07}, {'connected_gene': 'MEIOC', 'score': 9.31}, {'connected_gene': 'GC17M045006', 'score': 0.44}, {'connected_gene': 'GC17M045043', 'score': 0.34}]
chr17 GH17I045036 45036673 45036822 0.52 [{'connected_gene': 'DCAKD', 'score': 12.34}, {'connected_gene': 'KIF18B', 'score': 11.65}, {'connected_gene': 'GFAP', 'score': 11.61}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.98}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'GC17M045043', 'score': 0.44}, {'connected_gene': 'GC17M045006', 'score': 0.34}]
chr17 GH17I045034 45034375 45035355 0.2 [{'connected_gene': 'DCAKD', 'score': 12.31}, {'connected_gene': 'KIF18B', 'score': 11.65}, {'connected_gene': 'GFAP', 'score': 11.61}, {'connected_gene': 'C1QL1', 'score': 11.21}, {'connected_gene': 'HEXIM2', 'score': 10.98}, {'connected_gene': 'ENSG00000224505', 'score': 10.98}, {'connected_gene': 'EFTUD2', 'score': 10.6}, {'connected_gene': 'CCDC103', 'score': 10.6}, {'connected_gene': 'FAM187A', 'score': 10.6}, {'connected_gene': 'GC17M045043', 'score': 0.39}, {'connected_gene': 'GC17M045006', '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 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 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 GH17I044977 44977180 44982418 1.34 [{'connected_gene': 'UBTF', 'score': 38.91}, {'connected_gene': 'LINC02210', 'score': 26.79}, {'connected_gene': 'GJC1', 'score': 21.82}, {'connected_gene': 'NMT1', 'score': 20.89}, {'connected_gene': 'EFTUD2', 'score': 19.18}, {'connected_gene': 'MAP3K14-AS1', 'score': 19.11}, {'connected_gene': 'LRRC37A4P', 'score': 17.77}, {'connected_gene': 'ASB16-AS1', 'score': 14.37}, {'connected_gene': 'ENSG00000266918', 'score': 13.57}, {'connected_gene': 'KIF18B', 'score': 12.24}, {'connected_gene': 'C17orf53', 'score': 11.92}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'GFAP', 'score': 11.59}, {'connected_gene': 'GPATCH8', 'score': 10.63}, {'connected_gene': 'ENSG00000267160', 'score': 10.57}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'HEXIM2', 'score': 10.38}, {'connected_gene': 'ADAM11', 'score': 9.89}, {'connected_gene': 'DBF4B', 'score': 8.71}, {'connected_gene': 'ACBD4', 'score': 5.49}, {'connected_gene': 'FAM187A', 'score': 5.0}, {'connected_gene': 'GC17P044983', 'score': 0.77}, {'connected_gene': 'C1QL1', 'score': 0.39}, {'connected_gene': 'GC17P044954', 'score': 0.34}]
chr17 GH17I044389 44389495 44391044 1.6 [{'connected_gene': 'ITGA2B', 'score': 550.77}, {'connected_gene': 'ASB16-AS1', 'score': 23.8}, {'connected_gene': 'DHX8', 'score': 22.37}, {'connected_gene': 'UBTF', 'score': 12.86}, {'connected_gene': 'TMUB2', 'score': 12.33}, {'connected_gene': 'ENSG00000224505', 'score': 11.7}, {'connected_gene': 'FAM171A2', 'score': 11.69}, {'connected_gene': 'SLC25A39', 'score': 4.6}, {'connected_gene': 'HEXIM2', 'score': 4.58}, {'connected_gene': 'RN7SL258P', 'score': 0.37}]
chr17 GH17I044344 44344432 44349883 2.56 [{'connected_gene': 'GRN', 'score': 559.57}, {'connected_gene': 'UBTF', 'score': 25.03}, {'connected_gene': 'SLC25A39', 'score': 15.37}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'C17orf53', 'score': 12.91}, {'connected_gene': 'RUNDC3A-AS1', 'score': 12.72}, {'connected_gene': 'TMUB2', 'score': 12.6}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.02}, {'connected_gene': 'LSM12', 'score': 11.82}, {'connected_gene': 'RUNDC3A', 'score': 11.39}, {'connected_gene': 'ENSG00000221496', 'score': 11.38}, {'connected_gene': 'RNU6-453P', 'score': 11.38}, {'connected_gene': 'ASB16-AS1', 'score': 11.37}, {'connected_gene': 'ITGA2B', 'score': 11.3}, {'connected_gene': 'ENSG00000224505', 'score': 11.27}, {'connected_gene': 'SLC4A1', 'score': 11.03}, {'connected_gene': 'CD300LG', 'score': 10.56}, {'connected_gene': 'EFTUD2', 'score': 10.44}, {'connected_gene': 'DHX8', 'score': 10.15}, {'connected_gene': 'HEXIM2', 'score': 9.68}, {'connected_gene': 'GC17P044353', 'score': 0.44}, {'connected_gene': 'GC17P044352', 'score': 0.44}]
chr17 GH17I044443 44443811 44445759 0.65 [{'connected_gene': 'GPATCH8', 'score': 11.48}, {'connected_gene': 'ITGA2B', 'score': 10.9}, {'connected_gene': 'GRN', 'score': 5.72}, {'connected_gene': 'SLC25A39', 'score': 5.51}, {'connected_gene': 'HEXIM2', 'score': 4.8}, {'connected_gene': 'GC17P044475', 'score': 0.29}, {'connected_gene': 'RN7SL258P', 'score': 0.28}]
chr17 GH17I045719 45719855 45720004 0.63 [{'connected_gene': 'LINC02210', 'score': 93.25}, {'connected_gene': 'LRRC37A', 'score': 12.6}, {'connected_gene': 'MAP3K14-AS1', 'score': 10.76}, {'connected_gene': 'LRRC37A2', 'score': 10.49}, {'connected_gene': 'HEXIM2', 'score': 10.32}, {'connected_gene': 'GC17P045730', 'score': 0.39}, {'connected_gene': 'LOC105371802', 'score': 0.25}, {'connected_gene': 'LINC02210-CRHR1', 'score': 0.15}, {'connected_gene': 'PIRC95', 'score': 0.08}]
chr17 GH17I045619 45619601 45621401 1.83 [{'connected_gene': 'LINC02210', 'score': 550.77}, {'connected_gene': 'LINC02210-CRHR1', 'score': 550.77}, {'connected_gene': 'CRHR1', 'score': 550.1}, {'connected_gene': 'ENSG00000262372', 'score': 26.36}, {'connected_gene': 'ENSG00000224505', 'score': 23.98}, {'connected_gene': 'KANSL1', 'score': 22.6}, {'connected_gene': 'ARL17A', 'score': 14.04}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.05}, {'connected_gene': 'EFTUD2', 'score': 10.44}, {'connected_gene': 'ARL17B', 'score': 10.21}, {'connected_gene': 'HEXIM2', 'score': 9.69}, {'connected_gene': 'LRRC37A2', 'score': 4.65}, {'connected_gene': 'GC17P045639', 'score': 0.37}, {'connected_gene': 'PIRC95', 'score': 0.16}]
chr17 GH17I045332 45332354 45334387 1.39 [{'connected_gene': 'HEXIM2', 'score': 11.57}, {'connected_gene': 'ENSG00000224505', 'score': 11.57}, {'connected_gene': 'SPATA32', 'score': 11.26}, {'connected_gene': 'RNA5SP443', 'score': 0.44}, {'connected_gene': 'GC17M045328', 'score': 0.44}, {'connected_gene': 'LOC105371796', 'score': 0.29}]
chr17 GH17I045338 45338400 45338601 0.58 [{'connected_gene': 'HEXIM2', 'score': 11.57}, {'connected_gene': 'ENSG00000224505', 'score': 11.57}, {'connected_gene': 'SPATA32', 'score': 11.25}, {'connected_gene': 'RNA5SP443', 'score': 0.39}, {'connected_gene': 'GC17M045328', 'score': 0.39}, {'connected_gene': 'LOC105371796', '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 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 GH17I045392 45392971 45397100 1.39 [{'connected_gene': 'ENSG00000267344', 'score': 550.77}, {'connected_gene': 'PIR44765', 'score': 550.77}, {'connected_gene': 'LINC02210', 'score': 66.54}, {'connected_gene': 'ARHGAP27', 'score': 12.55}, {'connected_gene': 'LRRC37A4P', 'score': 11.7}, {'connected_gene': 'MAP3K14', 'score': 11.64}, {'connected_gene': 'FMNL1', 'score': 11.59}, {'connected_gene': 'SPATA32', 'score': 11.57}, {'connected_gene': 'ENSG00000224505', 'score': 10.65}, {'connected_gene': 'HEXIM2', 'score': 10.65}, {'connected_gene': 'ENSG00000262539', 'score': 5.25}]
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 GH17I045163 45163434 45163523 0.9 [{'connected_gene': 'ENSG00000224505', 'score': 550.77}, {'connected_gene': 'HEXIM2', 'score': 0.77}, {'connected_gene': 'LOC105371795', 'score': 0.44}]

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