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
ENST00000490414 [[161185023, 161185160], [161188030, 161188066], [161188492, 161188513], [161188670, 161189038]] None
ENST00000367992 [[161185068, 161185160], [161187775, 161187867], [161188030, 161188066], [161188492, 161188513], [161190179, 161190489]] [[161185111, 161185160], [161187775, 161187867], [161188030, 161188066], [161188492, 161188513], [161190179, 161190320]]
ENST00000289902 [[161185086, 161185160], [161187775, 161187867], [161188030, 161188066], [161188492, 161188513], [161188670, 161189038]] [[161185111, 161185160], [161187775, 161187867], [161188030, 161188066], [161188492, 161188513], [161188670, 161188733]]
NM_004106 [[161185086, 161185160], [161187775, 161187867], [161188030, 161188066], [161188492, 161188513], [161188670, 161189038]] [[161185111, 161185160], [161187775, 161187867], [161188030, 161188066], [161188492, 161188513], [161188670, 161188733]]
Promoter
Chrom Start End Description
chr1 161185032 161185095 CAGE_peak_1_at_FCER1G_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161209 161209411 161210247 0.85 [{'connected_gene': 'NR1I3', 'score': 12.38}, {'connected_gene': 'CFAP126', 'score': 11.89}, {'connected_gene': 'SDHC', 'score': 11.12}, {'connected_gene': 'NDUFS2', 'score': 9.14}, {'connected_gene': 'FCER1G', 'score': 0.44}, {'connected_gene': 'ADAMTS4', 'score': 0.39}]
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 GH01I161206 161206185 161208300 0.89 [{'connected_gene': 'B4GALT3', 'score': 21.32}, {'connected_gene': 'PPOX', 'score': 13.1}, {'connected_gene': 'NR1I3', 'score': 11.78}, {'connected_gene': 'SDHC', 'score': 10.75}, {'connected_gene': 'MPZ', 'score': 10.6}, {'connected_gene': 'LOC105371471', 'score': 9.73}, {'connected_gene': 'NDUFS2', 'score': 7.55}, {'connected_gene': 'TOMM40L', 'score': 6.16}, {'connected_gene': 'ADAMTS4', 'score': 3.78}, {'connected_gene': 'APOA2', 'score': 3.43}, {'connected_gene': 'HSPA6', 'score': 2.42}, {'connected_gene': 'FCER1G', 'score': 0.44}]
chr1 GH01I161222 161222994 161229603 2.09 [{'connected_gene': 'TOMM40L', 'score': 557.85}, {'connected_gene': 'APOA2', 'score': 550.77}, {'connected_gene': 'MIR5187', 'score': 550.77}, {'connected_gene': 'B4GALT3', 'score': 12.21}, {'connected_gene': 'LOC100287049', 'score': 10.4}, {'connected_gene': 'DEDD', 'score': 10.11}, {'connected_gene': 'NDUFS2', 'score': 6.41}, {'connected_gene': 'FCER1G', 'score': 4.57}]
chr1 GH01I161359 161359031 161359907 0.49 [{'connected_gene': 'SDHC', 'score': 37.03}, {'connected_gene': 'MPZ', 'score': 11.43}, {'connected_gene': 'NR1I3', 'score': 11.37}, {'connected_gene': 'APOA2', 'score': 11.36}, {'connected_gene': 'TOMM40L', 'score': 11.36}, {'connected_gene': 'FCER1G', 'score': 3.98}, {'connected_gene': 'CD244', 'score': 2.45}, {'connected_gene': 'ATF6', 'score': 1.65}, {'connected_gene': 'FCRLB', 'score': 1.58}, {'connected_gene': 'PIR38557', 'score': 0.77}]
chr1 GH01I161350 161350752 161351090 0.28 [{'connected_gene': 'SDHC', 'score': 35.75}, {'connected_gene': 'MPZ', 'score': 11.2}, {'connected_gene': 'PCP4L1', 'score': 11.01}, {'connected_gene': 'NR1I3', 'score': 10.84}, {'connected_gene': 'APOA2', 'score': 10.83}, {'connected_gene': 'TOMM40L', 'score': 10.83}, {'connected_gene': 'NECTIN4', 'score': 10.13}, {'connected_gene': 'LOC105371471', 'score': 10.12}, {'connected_gene': 'ARHGAP30', 'score': 10.12}, {'connected_gene': 'DEDD', 'score': 9.62}, {'connected_gene': 'FCER1G', 'score': 4.01}, {'connected_gene': 'CD244', 'score': 2.45}, {'connected_gene': 'ATF6', 'score': 1.59}, {'connected_gene': 'FCRLB', 'score': 1.36}, {'connected_gene': 'PIR38557', 'score': 0.39}]
chr1 GH01I161351 161351519 161352008 0.54 [{'connected_gene': 'SDHC', 'score': 12.23}, {'connected_gene': 'MPZ', 'score': 11.2}, {'connected_gene': 'PCP4L1', 'score': 11.01}, {'connected_gene': 'NR1I3', 'score': 10.84}, {'connected_gene': 'APOA2', 'score': 10.83}, {'connected_gene': 'TOMM40L', 'score': 10.83}, {'connected_gene': 'NECTIN4', 'score': 10.13}, {'connected_gene': 'LOC105371471', 'score': 10.12}, {'connected_gene': 'ARHGAP30', 'score': 10.12}, {'connected_gene': 'DEDD', 'score': 9.62}, {'connected_gene': 'FCER1G', 'score': 4.07}, {'connected_gene': 'CD244', 'score': 2.35}, {'connected_gene': 'ATF6', 'score': 1.74}, {'connected_gene': 'PIR38557', 'score': 0.39}]
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 GH01I160766 160766654 160769060 1.51 [{'connected_gene': 'SLAMF7', 'score': 40.01}, {'connected_gene': 'CD244', 'score': 14.31}, {'connected_gene': 'LY9', 'score': 11.22}, {'connected_gene': 'ENSG00000228863', 'score': 10.75}, {'connected_gene': 'ITLN1', 'score': 10.19}, {'connected_gene': 'SLAMF1', 'score': 10.19}, {'connected_gene': 'CD48', 'score': 8.77}, {'connected_gene': 'FCER1G', 'score': 8.74}, {'connected_gene': 'ENSG00000275801', 'score': 0.44}]
chr1 GH01I160726 160726002 160727600 1.63 [{'connected_gene': 'SLAMF7', 'score': 28.2}, {'connected_gene': 'LY9', 'score': 11.73}, {'connected_gene': 'ENSG00000228863', 'score': 11.2}, {'connected_gene': 'ITLN1', 'score': 11.08}, {'connected_gene': 'DEDD', 'score': 11.03}, {'connected_gene': 'NCSTN', 'score': 10.81}, {'connected_gene': 'B4GALT3', 'score': 10.4}, {'connected_gene': 'SLAMF1', 'score': 10.36}, {'connected_gene': 'ENSG00000256029', 'score': 9.75}, {'connected_gene': 'CD48', 'score': 9.41}, {'connected_gene': 'FCER1G', 'score': 8.84}, {'connected_gene': 'CD244', 'score': 5.13}, {'connected_gene': 'ENSG00000202078', 'score': 4.9}, {'connected_gene': 'GC01P160735', 'score': 0.44}]
chr1 GH01I160732 160732180 160732544 0.82 [{'connected_gene': 'SLAMF7', 'score': 36.42}, {'connected_gene': 'ENSG00000228863', 'score': 10.84}, {'connected_gene': 'LY9', 'score': 10.69}, {'connected_gene': 'ITLN1', 'score': 10.32}, {'connected_gene': 'SLAMF1', 'score': 10.16}, {'connected_gene': 'FCER1G', 'score': 10.14}, {'connected_gene': 'CD48', 'score': 9.54}, {'connected_gene': 'CD244', 'score': 5.28}, {'connected_gene': 'GC01P160735', 'score': 0.77}]
chr1 GH01I160738 160738126 160746162 2.11 [{'connected_gene': 'SLAMF7', 'score': 588.73}, {'connected_gene': 'FCER1G', 'score': 11.64}, {'connected_gene': 'CD48', 'score': 9.99}, {'connected_gene': 'CD244', 'score': 6.55}, {'connected_gene': 'ARHGAP30', 'score': 1.51}, {'connected_gene': 'COPA', 'score': 1.16}, {'connected_gene': 'ENSG00000275801', 'score': 0.29}]
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 GH01I161196 161196057 161204083 2.59 [{'connected_gene': 'NDUFS2', 'score': 561.69}, {'connected_gene': 'ADAMTS4', 'score': 560.36}, {'connected_gene': 'DUSP12', 'score': 27.96}, {'connected_gene': 'B4GALT3', 'score': 20.76}, {'connected_gene': 'USP21', 'score': 20.46}, {'connected_gene': 'PPOX', 'score': 19.03}, {'connected_gene': 'LOC100287049', 'score': 12.36}, {'connected_gene': 'DCAF8', 'score': 9.78}, {'connected_gene': 'NIT1', 'score': 7.21}, {'connected_gene': 'TOMM40L', 'score': 6.45}, {'connected_gene': 'PCP4L1', 'score': 2.51}, {'connected_gene': 'FCER1G', 'score': 0.37}]
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 GH01I161213 161213952 161220376 1.94 [{'connected_gene': 'FCER1G', 'score': 555.77}, {'connected_gene': 'B4GALT3', 'score': 26.11}, {'connected_gene': 'NDUFS2', 'score': 18.71}, {'connected_gene': 'CFAP126', 'score': 11.41}, {'connected_gene': 'MPZ', 'score': 10.91}, {'connected_gene': 'SDHC', 'score': 10.9}, {'connected_gene': 'DEDD', 'score': 10.42}, {'connected_gene': 'TOMM40L', 'score': 9.6}, {'connected_gene': 'NCSTN', 'score': 4.97}, {'connected_gene': 'ADAMTS4', 'score': 4.51}, {'connected_gene': 'APOA2', 'score': 0.44}]
chr1 GH01I161304 161304969 161307935 1.42 [{'connected_gene': 'FCER1G', 'score': 11.91}, {'connected_gene': 'NDUFS2', 'score': 11.89}, {'connected_gene': 'NR1I3', 'score': 11.43}, {'connected_gene': 'APOA2', 'score': 11.4}, {'connected_gene': 'TOMM40L', 'score': 11.4}, {'connected_gene': 'PCP4L1', 'score': 11.31}, {'connected_gene': 'SDHC', 'score': 9.16}, {'connected_gene': 'FCGR2C', 'score': 4.86}, {'connected_gene': 'MPZ', 'score': 0.77}, {'connected_gene': 'LOC105371472', 'score': 0.34}]
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 GH01I161096 161096224 161099132 2.12 [{'connected_gene': 'KLHDC9', 'score': 567.8}, {'connected_gene': 'USP21', 'score': 157.92}, {'connected_gene': 'DUSP12', 'score': 145.37}, {'connected_gene': 'PPOX', 'score': 88.24}, {'connected_gene': 'LOC100287049', 'score': 78.15}, {'connected_gene': 'DEDD', 'score': 68.19}, {'connected_gene': 'NCSTN', 'score': 52.13}, {'connected_gene': 'RPSAP18', 'score': 45.98}, {'connected_gene': 'LOC148430', 'score': 39.75}, {'connected_gene': 'DCAF8', 'score': 38.23}, {'connected_gene': 'B4GALT3', 'score': 36.38}, {'connected_gene': 'ATF6', 'score': 32.82}, {'connected_gene': 'COPA', 'score': 27.97}, {'connected_gene': 'LOC729867', 'score': 13.88}, {'connected_gene': 'LY9', 'score': 10.47}, {'connected_gene': 'SLAMF6', 'score': 10.28}, {'connected_gene': 'FCER1G', 'score': 7.13}, {'connected_gene': 'NDUFS2', 'score': 6.32}, {'connected_gene': 'NIT1', 'score': 5.5}, {'connected_gene': 'NECTIN4', '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 GH01I160788 160788944 160791556 1.51 [{'connected_gene': 'LOC105371470', 'score': 550.77}, {'connected_gene': 'SLAMF7', 'score': 29.08}, {'connected_gene': 'ITLN1', 'score': 10.82}, {'connected_gene': 'ENSG00000228863', 'score': 10.41}, {'connected_gene': 'CD48', 'score': 9.02}, {'connected_gene': 'CD244', 'score': 7.73}, {'connected_gene': 'FCER1G', 'score': 7.52}, {'connected_gene': 'COPA', 'score': 5.15}, {'connected_gene': 'TSTD1', 'score': 4.71}, {'connected_gene': 'LY9', 'score': 3.53}, {'connected_gene': 'ARHGAP30', 'score': 1.87}, {'connected_gene': 'CD84', 'score': 1.68}]
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 GH01I160733 160733512 160734515 1.11 [{'connected_gene': 'GC01P160735', 'score': 550.77}, {'connected_gene': 'SLAMF7', 'score': 18.41}, {'connected_gene': 'ITLN1', 'score': 10.33}, {'connected_gene': 'SLAMF1', 'score': 10.12}, {'connected_gene': 'LOC105371471', 'score': 9.58}, {'connected_gene': 'FCER1G', 'score': 9.21}, {'connected_gene': 'CD48', 'score': 8.21}, {'connected_gene': 'CD244', 'score': 4.91}]

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