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
ENST00000236938 [[161676761, 161677133], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161684138]] [[161677003, 161677133], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161683170]]
ENST00000367949 [[161676761, 161677133], [161680549, 161680702], [161682874, 161684141]] [[161677003, 161677133], [161680549, 161680702], [161682874, 161683170]]
ENST00000367959 [[161676761, 161677133], [161680264, 161680282], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161684141]] [[161677003, 161677133], [161680264, 161680282], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161683170]]
ENST00000540926 [[161676761, 161677133], [161680504, 161680522], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161684141]] [[161677054, 161677133], [161680504, 161680522], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161683170]]
ENST00000546024 [[161676761, 161677133], [161680549, 161680702], [161681723, 161682008], [161682874, 161684141]] [[161677003, 161677133], [161680549, 161680702], [161681723, 161682008], [161682874, 161683170]]
ENST00000350710 [[161676761, 161677133], [161682874, 161684141]] [[161677003, 161677133], [161682874, 161683170]]
ENST00000540521 [[161676761, 161677133], [161680264, 161680282], [161681723, 161682008], [161682874, 161684141]] [[161677003, 161677133], [161680264, 161680282], [161681723, 161682008], [161682874, 161683170]]
ENST00000367957 [[161676998, 161677133], [161681723, 161682008], [161682874, 161684138]] [[161677003, 161677133], [161681723, 161682008], [161682874, 161683170]]
ENST00000465403 [[161677028, 161677133], [161680229, 161680282], [161680549, 161680653], [161680997, 161681262]] None
ENST00000349527 [[161677033, 161677133], [161680549, 161680702], [161680997, 161681264], [161682874, 161683242]] [[161677054, 161677133], [161680549, 161680702], [161680997, 161681264], [161682874, 161683170]]
ENST00000294796 [[161677054, 161677133], [161680264, 161680282], [161681723, 161682008], [161682874, 161683258]] [[161677054, 161677133], [161680264, 161680282], [161681723, 161682008], [161682874, 161683170]]
ENST00000309691 [[161677054, 161677133], [161680549, 161680702], [161681723, 161682008], [161682874, 161683258]] [[161677054, 161677133], [161680549, 161680702], [161681723, 161682008], [161682874, 161683170]]
ENST00000367953 [[161677054, 161677133], [161680264, 161680282], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161684138]] [[161677054, 161677133], [161680264, 161680282], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161683170]]
ENST00000367950 [[161677084, 161677133], [161680549, 161680702], [161682874, 161683495]] [[161677123, 161677133], [161680549, 161680702], [161682874, 161683170]]
ENST00000470841 [[161680078, 161680702], [161680997, 161682008], [161682874, 161684142]] None
NM_001184871 [[161676761, 161677133], [161682874, 161684142]] [[161677003, 161677133], [161682874, 161683170]]
NM_001184872 [[161676761, 161677133], [161681723, 161682008], [161682874, 161684142]] [[161677003, 161677133], [161681723, 161682008], [161682874, 161683170]]
NM_001184873 [[161676761, 161677133], [161680549, 161680702], [161682874, 161684142]] [[161677003, 161677133], [161680549, 161680702], [161682874, 161683170]]
NM_001184867 [[161676761, 161677133], [161680549, 161680702], [161681723, 161682008], [161682874, 161684142]] [[161677003, 161677133], [161680549, 161680702], [161681723, 161682008], [161682874, 161683170]]
NM_032738 [[161676761, 161677133], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161684142]] [[161677003, 161677133], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161683170]]
NM_001184870 [[161676761, 161677133], [161680264, 161680282], [161681723, 161682008], [161682874, 161684142]] [[161677003, 161677133], [161680264, 161680282], [161681723, 161682008], [161682874, 161683170]]
NM_001184866 [[161676761, 161677133], [161680264, 161680282], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161684142]] [[161677003, 161677133], [161680264, 161680282], [161680549, 161680702], [161680997, 161681264], [161681723, 161682008], [161682874, 161683170]]
Promoter
Chrom Start End Description
chr1 161676739 161676771 CAGE_peak_4_at_FCRLA_5end
chr1 161676969 161676980 CAGE_peak_5_at_FCRLA_5end
chr1 161676983 161676994 CAGE_peak_3_at_FCRLA_5end
chr1 161677012 161677027 CAGE_peak_1_at_FCRLA_5end
chr1 161677036 161677047 CAGE_peak_2_at_FCRLA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161510 161510619 161511570 0.59 [{'connected_gene': 'FCGR2C', 'score': 17.68}, {'connected_gene': 'FCRLA', 'score': 10.57}, {'connected_gene': 'HSPA7', 'score': 4.55}, {'connected_gene': 'ENSG00000273112', 'score': 0.77}, {'connected_gene': 'GC01P161506', 'score': 0.44}, {'connected_gene': 'FCGR2A', 'score': 0.44}]
chr1 GH01I161560 161560601 161563400 1.1 [{'connected_gene': 'FCGR2C', 'score': 26.69}, {'connected_gene': 'FCRLB', 'score': 11.74}, {'connected_gene': 'FCGR2A', 'score': 11.49}, {'connected_gene': 'FCRLA', 'score': 11.3}, {'connected_gene': 'FCGR2B', 'score': 8.88}, {'connected_gene': 'HSPA7', 'score': 6.16}, {'connected_gene': 'RPS23P10', 'score': 5.92}, {'connected_gene': 'ENSG00000224515', 'score': 0.77}, {'connected_gene': 'ENSG00000273112', 'score': 0.25}]
chr1 GH01I161809 161809541 161810963 0.46 [{'connected_gene': 'FCRLA', 'score': 9.22}, {'connected_gene': 'ATF6', 'score': 0.26}, {'connected_gene': 'LOC100422526', 'score': 0.18}]
chr1 GH01I161738 161738404 161741879 1.59 [{'connected_gene': 'FCRLA', 'score': 16.05}, {'connected_gene': 'FCGR2A', 'score': 15.63}, {'connected_gene': 'DUSP12', 'score': 5.37}, {'connected_gene': 'ATF6', 'score': 5.18}, {'connected_gene': 'HSPA6', 'score': 3.07}, {'connected_gene': 'FCGR3A', 'score': 1.2}, {'connected_gene': 'RN7SL466P', 'score': 0.77}]
chr1 GH01I161737 161737679 161738131 0.51 [{'connected_gene': 'FCRLA', 'score': 11.69}, {'connected_gene': 'FCGR2A', 'score': 10.64}, {'connected_gene': 'DUSP12', 'score': 5.38}, {'connected_gene': 'RN7SL466P', 'score': 0.77}]
chr1 GH01I161725 161725619 161729147 1.73 [{'connected_gene': 'FCRLA', 'score': 21.02}, {'connected_gene': 'FCRLB', 'score': 14.02}, {'connected_gene': 'ATF6', 'score': 11.92}, {'connected_gene': 'DEDD', 'score': 11.01}, {'connected_gene': 'B4GALT3', 'score': 10.38}, {'connected_gene': 'FCGR2B', 'score': 6.59}, {'connected_gene': 'RN7SL466P', 'score': 0.44}]
chr1 GH01I161705 161705526 161708764 1.65 [{'connected_gene': 'FCRLA', 'score': 567.54}, {'connected_gene': 'FCRLB', 'score': 11.02}, {'connected_gene': 'FCGR2B', 'score': 8.04}, {'connected_gene': 'HSPA7', 'score': 7.03}, {'connected_gene': 'GC01M161708', 'score': 0.77}]
chr1 GH01I161729 161729478 161731222 1.15 [{'connected_gene': 'FCRLA', 'score': 16.64}, {'connected_gene': 'FCRLB', 'score': 12.07}, {'connected_gene': 'DUSP12', 'score': 6.31}, {'connected_gene': 'RN7SL466P', 'score': 0.44}]
chr1 GH01I161733 161733011 161734299 0.89 [{'connected_gene': 'FCRLA', 'score': 16.86}, {'connected_gene': 'DUSP12', 'score': 6.31}, {'connected_gene': 'FCRLB', 'score': 6.2}, {'connected_gene': 'RN7SL466P', 'score': 0.77}]
chr1 GH01I161399 161397171 161397320 0.46 [{'connected_gene': 'SDHC', 'score': 10.33}, {'connected_gene': 'MPZ', 'score': 10.08}, {'connected_gene': 'FCRLA', 'score': 9.19}, {'connected_gene': 'ENSG00000283696', 'score': 0.77}, {'connected_gene': 'RRM2P2', 'score': 0.37}]
chr1 GH01I161388 161388670 161391200 1.83 [{'connected_gene': 'SDHC', 'score': 39.19}, {'connected_gene': 'USP21', 'score': 16.48}, {'connected_gene': 'PPOX', 'score': 16.16}, {'connected_gene': 'DUSP12', 'score': 14.89}, {'connected_gene': 'ATF6', 'score': 14.1}, {'connected_gene': 'CFAP126', 'score': 12.1}, {'connected_gene': 'NR1I3', 'score': 11.25}, {'connected_gene': 'APOA2', 'score': 11.24}, {'connected_gene': 'TOMM40L', 'score': 11.24}, {'connected_gene': 'DEDD', 'score': 11.05}, {'connected_gene': 'MPZ', 'score': 10.55}, {'connected_gene': 'B4GALT3', 'score': 10.42}, {'connected_gene': 'FCRLA', 'score': 9.41}, {'connected_gene': 'FCER1G', 'score': 8.57}, {'connected_gene': 'FCGR2A', 'score': 3.42}, {'connected_gene': 'ARHGAP30', 'score': 2.23}, {'connected_gene': 'HSPA6', 'score': 1.59}, {'connected_gene': 'ENSG00000283696', 'score': 0.44}, {'connected_gene': 'RRM2P2', 'score': 0.39}]
chr1 GH01I161814 161814085 161814826 0.2 [{'connected_gene': 'ATF6', 'score': 10.01}, {'connected_gene': 'FCRLA', 'score': 9.22}, {'connected_gene': 'LOC100422526', 'score': 0.18}]
chr1 GH01I161544 161544401 161550800 1.46 [{'connected_gene': 'FCGR3A', 'score': 550.77}, {'connected_gene': 'FCGR2C', 'score': 27.51}, {'connected_gene': 'FCGR2A', 'score': 12.27}, {'connected_gene': 'FCRLA', 'score': 11.04}, {'connected_gene': 'FCRLB', 'score': 10.83}, {'connected_gene': 'HSPA7', 'score': 9.88}, {'connected_gene': 'FCGR2B', 'score': 8.86}, {'connected_gene': 'RPS23P10', 'score': 7.61}, {'connected_gene': 'FCGR3B', 'score': 7.11}, {'connected_gene': 'TRN-GTT1-1', 'score': 0.44}, {'connected_gene': 'ENSG00000273112', 'score': 0.29}]
chr1 GH01I161645 161645742 161648716 0.81 [{'connected_gene': 'FCGR2B', 'score': 26.83}, {'connected_gene': 'FCGR3B', 'score': 13.67}, {'connected_gene': 'FCRLA', 'score': 11.65}]
chr1 GH01I161743 161743482 161744840 0.98 [{'connected_gene': 'FCRLB', 'score': 11.79}, {'connected_gene': 'FCRLA', 'score': 11.33}, {'connected_gene': 'FCGR2A', 'score': 10.37}, {'connected_gene': 'ATF6', 'score': 9.02}, {'connected_gene': 'RN7SL466P', 'score': 0.44}, {'connected_gene': 'DUSP12', 'score': 0.44}]
chr1 GH01I161736 161736156 161737018 1.27 [{'connected_gene': 'RN7SL466P', 'score': 550.77}, {'connected_gene': 'FCRLB', 'score': 13.78}, {'connected_gene': 'ENSG00000272574', 'score': 12.95}, {'connected_gene': 'DDR2', 'score': 12.53}, {'connected_gene': 'FCRLA', 'score': 12.07}, {'connected_gene': 'FCGR2A', 'score': 10.97}, {'connected_gene': 'FCGR2B', 'score': 6.16}, {'connected_gene': 'DUSP12', 'score': 5.44}, {'connected_gene': 'ATF6', 'score': 2.63}, {'connected_gene': 'HSPA6', 'score': 1.26}]
chr1 GH01I161491 161491001 161491200 0.2 [{'connected_gene': 'LOC105371473', 'score': 550.77}, {'connected_gene': 'FCRLB', 'score': 10.95}, {'connected_gene': 'FCRLA', 'score': 10.44}, {'connected_gene': 'FCGR2A', 'score': 0.39}]
chr1 GH01I161427 161427484 161428824 1.24 [{'connected_gene': 'TRN-GTT2-2', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 26.13}, {'connected_gene': 'USP21', 'score': 21.23}, {'connected_gene': 'RNU6-481P', 'score': 12.21}, {'connected_gene': 'ATF6', 'score': 12.1}, {'connected_gene': 'B4GALT3', 'score': 11.49}, {'connected_gene': 'DEDD', 'score': 10.42}, {'connected_gene': 'FCRLA', 'score': 9.85}, {'connected_gene': 'GC01M161459', 'score': 0.39}, {'connected_gene': 'TRG-TCC4-1', 'score': 0.39}, {'connected_gene': 'TRD-GTC2-5', 'score': 0.26}]
chr1 GH01I161480 161480851 161480940 0.38 [{'connected_gene': 'TRG-GCC4-1', 'score': 550.77}, {'connected_gene': 'GC01P161481', 'score': 550.77}, {'connected_gene': 'FCGR2A', 'score': 12.37}, {'connected_gene': 'FCRLB', 'score': 10.82}, {'connected_gene': 'FCRLA', 'score': 10.05}, {'connected_gene': 'LOC105371473', 'score': 0.44}]
chr1 GH01I161528 161528801 161533518 1.79 [{'connected_gene': 'TRL-CAG1-6', 'score': 550.77}, {'connected_gene': 'TRG-TCC2-6', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 26.62}, {'connected_gene': 'USP21', 'score': 23.93}, {'connected_gene': 'FCGR2C', 'score': 20.97}, {'connected_gene': 'FCGR2A', 'score': 16.51}, {'connected_gene': 'PPOX', 'score': 13.32}, {'connected_gene': 'FCRLA', 'score': 11.16}, {'connected_gene': 'FCGR2B', 'score': 9.25}, {'connected_gene': 'HSPA6', 'score': 8.4}, {'connected_gene': 'FCGR3B', 'score': 7.81}, {'connected_gene': 'RPS23P10', 'score': 7.43}, {'connected_gene': 'ARHGAP30', 'score': 6.5}, {'connected_gene': 'FCGR3A', 'score': 5.19}, {'connected_gene': 'USF1', 'score': 3.75}, {'connected_gene': 'FCER1G', 'score': 3.01}, {'connected_gene': 'ATF6', 'score': 2.48}, {'connected_gene': 'OLFML2B', 'score': 2.06}, {'connected_gene': 'ADAMTS4', 'score': 1.95}, {'connected_gene': 'CFAP126', 'score': 1.43}, {'connected_gene': 'PCP4L1', 'score': 1.28}, {'connected_gene': 'ENSG00000273112', 'score': 0.37}]
chr1 GH01I161513 161513401 161514280 0.79 [{'connected_gene': 'ENSG00000273112', 'score': 550.77}, {'connected_gene': 'FCGR2C', 'score': 19.55}, {'connected_gene': 'PPOX', 'score': 13.32}, {'connected_gene': 'USP21', 'score': 13.01}, {'connected_gene': 'DUSP12', 'score': 11.93}, {'connected_gene': 'FCRLA', 'score': 10.57}, {'connected_gene': 'FCGR2A', 'score': 0.44}, {'connected_gene': 'TRD-GTC10-1', 'score': 0.44}]
chr1 GH01I161512 161512911 161513060 0.2 [{'connected_gene': 'ENSG00000273112', 'score': 550.77}, {'connected_gene': 'FCRLA', 'score': 10.57}, {'connected_gene': 'GC01P161506', 'score': 0.44}, {'connected_gene': 'FCGR2A', 'score': 0.44}]
chr1 GH01I161397 161397431 161397580 0.43 [{'connected_gene': 'ENSG00000283696', 'score': 550.77}, {'connected_gene': 'SDHC', 'score': 37.88}, {'connected_gene': 'MPZ', 'score': 10.08}, {'connected_gene': 'FCRLA', 'score': 9.19}, {'connected_gene': 'RRM2P2', 'score': 0.37}]
chr1 GH01I161504 161504408 161507800 1.66 [{'connected_gene': 'GC01P161506', 'score': 550.77}, {'connected_gene': 'FCGR2A', 'score': 550.77}, {'connected_gene': 'FCGR2C', 'score': 18.56}, {'connected_gene': 'FCRLA', 'score': 10.53}, {'connected_gene': 'HSPA7', 'score': 4.46}, {'connected_gene': 'ENSG00000273112', 'score': 0.44}]
chr1 GH01I161556 161556915 161559003 0.76 [{'connected_gene': 'ENSG00000224515', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 18.45}, {'connected_gene': 'FCGR2C', 'score': 17.78}, {'connected_gene': 'USP21', 'score': 12.08}, {'connected_gene': 'FCGR2A', 'score': 11.5}, {'connected_gene': 'FCRLA', 'score': 11.3}, {'connected_gene': 'PPOX', 'score': 9.76}, {'connected_gene': 'ENSG00000273112', 'score': 0.26}]
chr1 GH01I161398 161397855 161401020 1.83 [{'connected_gene': 'PIR55576', 'score': 550.77}, {'connected_gene': 'ENSG00000283696', 'score': 550.77}, {'connected_gene': 'TRV-CAC1-1', 'score': 550.77}, {'connected_gene': 'RNU6-481P', 'score': 550.77}, {'connected_gene': 'USP21', 'score': 50.99}, {'connected_gene': 'SDHC', 'score': 37.96}, {'connected_gene': 'PPOX', 'score': 33.18}, {'connected_gene': 'ATF6', 'score': 30.59}, {'connected_gene': 'B4GALT3', 'score': 30.25}, {'connected_gene': 'DEDD', 'score': 27.72}, {'connected_gene': 'DUSP12', 'score': 27.16}, {'connected_gene': 'MPZ', 'score': 10.08}, {'connected_gene': 'FCRLA', 'score': 9.19}]

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