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
ENST00000367972 [[161475219, 161475342], [161475776, 161475797], [161476126, 161476381], [161479609, 161479864], [161480623, 161480746], [161483684, 161483722], [161487764, 161488348]] [[161475257, 161475342], [161475776, 161475797], [161476126, 161476381], [161479609, 161479864], [161480623, 161480746], [161483684, 161483722], [161487764, 161487938]]
ENST00000271450 [[161475219, 161475342], [161475776, 161475797], [161476123, 161476381], [161479609, 161479864], [161480623, 161480746], [161483684, 161483722], [161487764, 161489358]] [[161475257, 161475342], [161475776, 161475797], [161476123, 161476381], [161479609, 161479864], [161480623, 161480746], [161483684, 161483722], [161487764, 161487938]]
ENST00000483665 [[161475246, 161475342], [161475776, 161475797], [161476126, 161476497], [161479609, 161479864], [161480623, 161480746], [161483684, 161483722], [161487764, 161488355]] [[161475257, 161475342], [161475776, 161475797], [161476126, 161476431]]
ENST00000467525 [[161476122, 161476381], [161479609, 161479864], [161480630, 161480746], [161487764, 161487927], [161489378, 161489503], [161493079, 161493803]] [[161476122, 161476381], [161479609, 161479864], [161480630, 161480689]]
ENST00000471026 [[161476440, 161476497], [161479609, 161479864], [161483684, 161483722], [161487764, 161488145]] None
ENST00000467654 [[161475235, 161475342], [161475776, 161475797], [161476126, 161476381], [161479609, 161480140]] None
ENST00000473080 [[161475242, 161475797], [161476126, 161476158]] None
ENST00000536731 [[161475246, 161475342], [161475776, 161475797], [161476123, 161476497], [161479609, 161479689]] [[161475257, 161475342], [161475776, 161475797], [161476123, 161476431]]
ENST00000497474 [[161475248, 161475342], [161475776, 161476239]] None
ENST00000482233 [[161475657, 161475797], [161476126, 161476430]] None
ENST00000461298 [[161483166, 161483317], [161483684, 161483722], [161487764, 161488380]] None
ENST00000459885 [[161483687, 161483722], [161487764, 161487927], [161489696, 161489757]] [[161483687, 161483722], [161487764, 161487927], [161489696, 161489757]]
ENST00000486608 [[161484409, 161484664], [161487764, 161488393]] None
ENST00000491841 [[161487764, 161487927], [161489378, 161489450], [161489591, 161489781], [161492584, 161492889]] None
NM_021642 [[161475204, 161475342], [161475776, 161475797], [161476126, 161476381], [161479609, 161479864], [161480623, 161480746], [161483684, 161483722], [161487764, 161489360]] [[161475257, 161475342], [161475776, 161475797], [161476126, 161476381], [161479609, 161479864], [161480623, 161480746], [161483684, 161483722], [161487764, 161487938]]
NM_001136219 [[161475204, 161475342], [161475776, 161475797], [161476123, 161476381], [161479609, 161479864], [161480623, 161480746], [161483684, 161483722], [161487764, 161489360]] [[161475257, 161475342], [161475776, 161475797], [161476123, 161476381], [161479609, 161479864], [161480623, 161480746], [161483684, 161483722], [161487764, 161487938]]
Promoter
Chrom Start End Description
chr1 161475208 161475226 CAGE_peak_2_at_FCGR2A_5end
chr1 161475228 161475239 CAGE_peak_3_at_FCGR2A_5end
chr1 161475240 161475262 CAGE_peak_1_at_FCGR2A_5end
chr1 161475376 161475416 CAGE_peak_10_at_FCGR2A_5end
chr1 161475635 161475666 CAGE_peak_4_at_FCGR2A_5end
chr1 161476183 161476210 CAGE_peak_5_at_FCGR2A_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 GH01I161181 161181277 161188841 1.55 [{'connected_gene': 'B4GALT3', 'score': 12.21}, {'connected_gene': 'ADAMTS4', 'score': 8.6}, {'connected_gene': 'SLAMF7', 'score': 7.4}, {'connected_gene': 'PPOX', 'score': 6.88}, {'connected_gene': 'NIT1', 'score': 6.84}, {'connected_gene': 'FCER1G', 'score': 4.69}, {'connected_gene': 'CD48', 'score': 3.93}, {'connected_gene': 'ARHGAP30', 'score': 3.86}, {'connected_gene': 'CD244', 'score': 2.86}, {'connected_gene': 'FCGR3A', 'score': 2.69}, {'connected_gene': 'HSPA6', 'score': 1.82}, {'connected_gene': 'USF1', 'score': 1.7}, {'connected_gene': 'FCGR2A', 'score': 1.59}, {'connected_gene': 'LY9', 'score': 1.15}, {'connected_gene': 'NDUFS2', 'score': 0.39}]
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 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 GH01I161386 161386592 161386862 0.88 [{'connected_gene': 'NDUFS2', 'score': 11.57}, {'connected_gene': 'ADAMTS4', 'score': 11.57}, {'connected_gene': 'SDHC', 'score': 11.21}, {'connected_gene': 'NR1I3', 'score': 11.01}, {'connected_gene': 'APOA2', 'score': 10.99}, {'connected_gene': 'TOMM40L', 'score': 10.99}, {'connected_gene': 'MPZ', 'score': 10.7}, {'connected_gene': 'FCER1G', 'score': 5.48}, {'connected_gene': 'ATF6', 'score': 2.15}, {'connected_gene': 'FCRLB', 'score': 1.44}, {'connected_gene': 'FCGR2A', 'score': 1.32}, {'connected_gene': 'RRM2P2', 'score': 0.44}, {'connected_gene': 'ENSG00000283696', 'score': 0.39}]
chr1 GH01I161066 161066049 161071180 2.43 [{'connected_gene': 'ARHGAP30', 'score': 568.4}, {'connected_gene': 'FCGR2A', 'score': 38.56}, {'connected_gene': 'TSTD1', 'score': 31.5}, {'connected_gene': 'DUSP12', 'score': 27.0}, {'connected_gene': 'USP21', 'score': 24.96}, {'connected_gene': 'PPOX', 'score': 16.24}, {'connected_gene': 'F11R', 'score': 16.13}, {'connected_gene': 'DEDD', 'score': 12.65}, {'connected_gene': 'NECTIN4', 'score': 12.0}, {'connected_gene': 'ENSG00000232879', 'score': 11.75}, {'connected_gene': 'LOC100287049', 'score': 11.53}, {'connected_gene': 'COPA', 'score': 11.48}, {'connected_gene': 'KLHDC9', 'score': 11.19}, {'connected_gene': 'USF1', 'score': 4.63}, {'connected_gene': 'FCGR3A', 'score': 3.43}, {'connected_gene': 'CD244', 'score': 3.34}, {'connected_gene': 'FCER1G', 'score': 3.26}, {'connected_gene': 'CD48', 'score': 2.45}, {'connected_gene': 'GC01P161070', 'score': 0.77}, {'connected_gene': 'GC01P161046', 'score': 0.34}]
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 GH01I162002 162002580 162005154 1.08 [{'connected_gene': 'FCGR3A', 'score': 7.62}, {'connected_gene': 'OLFML2B', 'score': 5.35}, {'connected_gene': 'FCGR2A', 'score': 1.17}, {'connected_gene': 'PIR31181', 'score': 0.77}]
chr1 GH01I161499 161499401 161500000 0.97 [{'connected_gene': 'FCER1G', 'score': 5.78}, {'connected_gene': 'ATF6', 'score': 5.6}, {'connected_gene': 'HSPA6', 'score': 5.14}, {'connected_gene': 'FCGR2A', 'score': 3.19}, {'connected_gene': 'LOC105371473', 'score': 0.39}]
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 GH01I161011 161011352 161023074 2.16 [{'connected_gene': 'DUSP12', 'score': 74.64}, {'connected_gene': 'USP21', 'score': 72.51}, {'connected_gene': 'LOC100287049', 'score': 65.99}, {'connected_gene': 'DEDD', 'score': 42.11}, {'connected_gene': 'PPOX', 'score': 41.65}, {'connected_gene': 'TSTD1', 'score': 33.18}, {'connected_gene': 'LOC148430', 'score': 32.97}, {'connected_gene': 'B4GALT3', 'score': 29.85}, {'connected_gene': 'ARHGAP30', 'score': 24.17}, {'connected_gene': 'KLHDC9', 'score': 22.28}, {'connected_gene': 'DCAF8', 'score': 20.08}, {'connected_gene': 'FCGR2A', 'score': 19.25}, {'connected_gene': 'USF1', 'score': 17.68}, {'connected_gene': 'RPSAP18', 'score': 16.18}, {'connected_gene': 'LOC105371471', 'score': 10.91}, {'connected_gene': 'NECTIN4', 'score': 10.9}, {'connected_gene': 'F11R', 'score': 10.52}, {'connected_gene': 'LY9', 'score': 9.87}, {'connected_gene': 'ITLN1', 'score': 9.71}, {'connected_gene': 'ENSG00000228863', 'score': 9.37}, {'connected_gene': 'ENSG00000232879', 'score': 7.77}, {'connected_gene': 'FCER1G', 'score': 6.31}, {'connected_gene': 'CD244', 'score': 4.98}, {'connected_gene': 'SLAMF7', 'score': 4.61}, {'connected_gene': 'CD48', 'score': 4.18}, {'connected_gene': 'ADAMTS4', 'score': 2.7}, {'connected_gene': 'NDUFS2', 'score': 1.4}, {'connected_gene': 'NR1I3', 'score': 1.24}, {'connected_gene': 'CD84', 'score': 1.13}, {'connected_gene': 'PIR46981', 'score': 0.37}, {'connected_gene': 'GC01M161000', 'score': 0.37}, {'connected_gene': 'ENSG00000270149', 'score': 0.34}]
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 GH01I161523 161523371 161525201 2.18 [{'connected_gene': 'TRG-GCC2-1', 'score': 550.77}, {'connected_gene': 'HSPA6', 'score': 550.77}, {'connected_gene': 'TRD-GTC10-1', 'score': 550.77}, {'connected_gene': 'PIR56644', 'score': 550.77}, {'connected_gene': 'USP21', 'score': 28.72}, {'connected_gene': 'DUSP12', 'score': 28.63}, {'connected_gene': 'RPS23P10', 'score': 14.48}, {'connected_gene': 'FCGR2C', 'score': 14.23}, {'connected_gene': 'B4GALT3', 'score': 10.67}, {'connected_gene': 'PPOX', 'score': 10.59}, {'connected_gene': 'LOC148430', 'score': 10.5}, {'connected_gene': 'FCGR3B', 'score': 8.43}, {'connected_gene': 'ENSG00000273112', 'score': 0.39}, {'connected_gene': 'FCGR2A', 'score': 0.37}]
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 GH01I161539 161539401 161544189 1.5 [{'connected_gene': 'TRN-GTT1-1', 'score': 550.77}, {'connected_gene': 'GC01P161541', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 34.23}, {'connected_gene': 'FCGR2C', 'score': 27.12}, {'connected_gene': 'USP21', 'score': 24.08}, {'connected_gene': 'ARHGAP30', 'score': 12.68}, {'connected_gene': 'FCGR2A', 'score': 11.12}, {'connected_gene': 'FCRLB', 'score': 10.83}, {'connected_gene': 'SLAMF7', 'score': 10.47}, {'connected_gene': 'LY9', 'score': 9.88}, {'connected_gene': 'RPS23P10', 'score': 6.98}, {'connected_gene': 'HSPA7', 'score': 5.97}, {'connected_gene': 'FCGR3B', 'score': 4.84}, {'connected_gene': 'FCGR3A', 'score': 0.44}, {'connected_gene': 'ENSG00000273112', 'score': 0.31}]
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 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 GH01I161620 161620801 161625357 1.69 [{'connected_gene': 'GC01P161621', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 43.13}, {'connected_gene': 'USP21', 'score': 33.74}, {'connected_gene': 'FCGR2B', 'score': 27.77}, {'connected_gene': 'FCGR3B', 'score': 16.47}, {'connected_gene': 'DEDD', 'score': 13.23}, {'connected_gene': 'PPOX', 'score': 11.99}, {'connected_gene': 'LOC148430', 'score': 11.44}, {'connected_gene': 'B4GALT3', 'score': 11.27}, {'connected_gene': 'FCGR3A', 'score': 7.97}, {'connected_gene': 'FCGR2A', 'score': 2.66}]

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