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
ENST00000367975 [[161284046, 161284215], [161293403, 161293460], [161298185, 161298287], [161310383, 161310445], [161326466, 161326630], [161332118, 161332984]] [[161284195, 161284215], [161293403, 161293460], [161298185, 161298287], [161310383, 161310445], [161326466, 161326630], [161332118, 161332223]]
ENST00000515731 [[161284170, 161284664], [161293403, 161293460], [161298185, 161298285]] None
ENST00000342751 [[161284170, 161284215], [161293403, 161293460], [161298185, 161298287], [161310383, 161310445], [161332118, 161332979]] [[161284195, 161284215], [161293403, 161293460], [161298185, 161298287], [161310383, 161310445], [161332118, 161332330]]
ENST00000432287 [[161284171, 161284215], [161293403, 161293460], [161310383, 161310445], [161326466, 161326630], [161332118, 161332251]] [[161284195, 161284215], [161293403, 161293460], [161310383, 161310445], [161326466, 161326630], [161332118, 161332223]]
ENST00000392169 [[161284177, 161284215], [161310383, 161310445], [161326466, 161326630], [161332118, 161332223]] [[161284195, 161284215], [161310383, 161310445], [161326466, 161326630], [161332118, 161332223]]
ENST00000513009 [[161284177, 161284215], [161293403, 161293460], [161310383, 161310445], [161332118, 161332330]] [[161284195, 161284215], [161293403, 161293460], [161310383, 161310445], [161332118, 161332330]]
ENST00000504963 [[161284180, 161284215], [161293403, 161293460], [161298185, 161298287], [161309351, 161309378], [161310383, 161310445], [161326466, 161326630], [161332118, 161332242]] [[161284195, 161284215], [161293403, 161293460], [161298185, 161298287], [161309351, 161309376]]
ENST00000470743 [[161293403, 161293460], [161296440, 161296558], [161298185, 161298287], [161310383, 161310445], [161326466, 161326630], [161332118, 161332447]] None
ENST00000513700 [[161298191, 161298287], [161310383, 161310418], [161332639, 161332977]] None
NM_001035513 [[161284165, 161284215], [161310383, 161310445], [161326466, 161326630], [161332118, 161334541]] [[161284195, 161284215], [161310383, 161310445], [161326466, 161326630], [161332118, 161332223]]
NM_001278172 [[161284165, 161284215], [161293403, 161293460], [161310383, 161310445], [161332118, 161334541]] [[161284195, 161284215], [161293403, 161293460], [161310383, 161310445], [161332118, 161332330]]
NM_001035512 [[161284165, 161284215], [161293403, 161293460], [161310383, 161310445], [161326466, 161326630], [161332118, 161334541]] [[161284195, 161284215], [161293403, 161293460], [161310383, 161310445], [161326466, 161326630], [161332118, 161332223]]
NM_001035511 [[161284165, 161284215], [161293403, 161293460], [161298185, 161298287], [161310383, 161310445], [161332118, 161334541]] [[161284195, 161284215], [161293403, 161293460], [161298185, 161298287], [161310383, 161310445], [161332118, 161332330]]
NM_003001 [[161284165, 161284215], [161293403, 161293460], [161298185, 161298287], [161310383, 161310445], [161326466, 161326630], [161332118, 161334541]] [[161284195, 161284215], [161293403, 161293460], [161298185, 161298287], [161310383, 161310445], [161326466, 161326630], [161332118, 161332223]]
NR_103459 [[161284165, 161284215], [161293403, 161293460], [161298185, 161298287], [161309351, 161309378], [161310383, 161310445], [161326466, 161326630], [161332118, 161334541]] None
Promoter
Chrom Start End Description
chr1 161284163 161284180 CAGE_peak_1_at_SDHC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161237 161237614 161239146 1.34 [{'connected_gene': 'NR1I3', 'score': 550.77}, {'connected_gene': 'SDHC', 'score': 11.26}, {'connected_gene': 'MPZ', 'score': 11.13}, {'connected_gene': 'NECTIN4', 'score': 9.34}, {'connected_gene': 'NDUFS2', 'score': 5.8}, {'connected_gene': 'ADAMTS4', 'score': 4.43}, {'connected_gene': 'MIR5187', 'score': 0.39}]
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 GH01I161473 161473399 161473862 0.88 [{'connected_gene': 'FCGR2C', 'score': 16.27}, {'connected_gene': 'SDHC', 'score': 6.95}, {'connected_gene': 'TRL-CAG1-5', 'score': 0.77}, {'connected_gene': 'GC01P161481', 'score': 0.44}]
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 GH01I161256 161256211 161256360 0.52 [{'connected_gene': 'APOA2', 'score': 11.97}, {'connected_gene': 'TOMM40L', 'score': 11.97}, {'connected_gene': 'SDHC', 'score': 10.97}, {'connected_gene': 'PCP4L1', 'score': 0.77}, {'connected_gene': 'NR1I3', 'score': 0.37}]
chr1 GH01I161381 161381751 161383896 1.3 [{'connected_gene': 'SDHC', 'score': 35.14}, {'connected_gene': 'NR1I3', 'score': 11.65}, {'connected_gene': 'APOA2', 'score': 11.65}, {'connected_gene': 'TOMM40L', 'score': 11.65}, {'connected_gene': 'ADAMTS4', 'score': 11.6}, {'connected_gene': 'NDUFS2', 'score': 11.6}, {'connected_gene': 'MPZ', 'score': 11.1}, {'connected_gene': 'RRM2P2', 'score': 0.77}, {'connected_gene': 'ENSG00000283696', 'score': 0.37}]
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 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 GH01I161245 161245031 161245180 0.57 [{'connected_gene': 'SDHC', 'score': 11.29}, {'connected_gene': 'MPZ', 'score': 11.15}, {'connected_gene': 'NECTIN4', 'score': 9.33}, {'connected_gene': 'NR1I3', 'score': 0.44}, {'connected_gene': 'PCP4L1', 'score': 0.39}]
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 GH01I161364 161364808 161366954 0.38 [{'connected_gene': 'SDHC', 'score': 24.19}, {'connected_gene': 'CFAP126', 'score': 0.77}, {'connected_gene': 'PIR38557', 'score': 0.77}]
chr1 GH01I161313 161313530 161315587 2.06 [{'connected_gene': 'SDHC', 'score': 579.28}, {'connected_gene': 'DUSP12', 'score': 18.41}, {'connected_gene': 'USP21', 'score': 12.14}, {'connected_gene': 'ATF6', 'score': 11.69}, {'connected_gene': 'DEDD', 'score': 11.07}, {'connected_gene': 'NCSTN', 'score': 10.79}, {'connected_gene': 'B4GALT3', 'score': 10.47}, {'connected_gene': 'PPOX', 'score': 9.82}, {'connected_gene': 'PIR38557', 'score': 0.25}]
chr1 GH01I161378 161378977 161379441 0.45 [{'connected_gene': 'RRM2P2', 'score': 550.77}, {'connected_gene': 'NDUFS2', 'score': 13.23}, {'connected_gene': 'NR1I3', 'score': 11.65}, {'connected_gene': 'TOMM40L', 'score': 11.65}, {'connected_gene': 'APOA2', 'score': 11.65}, {'connected_gene': 'ADAMTS4', 'score': 11.6}, {'connected_gene': 'SDHC', 'score': 11.18}, {'connected_gene': 'MPZ', 'score': 11.11}, {'connected_gene': 'CFAP126', '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 GH01I161309 161309958 161310017 0.61 [{'connected_gene': 'MPZ', 'score': 550.77}, {'connected_gene': 'SDHC', 'score': 0.77}]
chr1 GH01I161969 161969756 161971201 0.2 [{'connected_gene': 'OLFML2B', 'score': 11.88}, {'connected_gene': 'SDHC', 'score': 4.78}, {'connected_gene': 'FCGR3B', 'score': 4.3}, {'connected_gene': 'GC01P161959', 'score': 0.39}, {'connected_gene': 'PIR31181', 'score': 0.31}]
chr1 GH01I161961 161961306 161963970 1.06 [{'connected_gene': 'OLFML2B', 'score': 12.06}, {'connected_gene': 'FCRLB', 'score': 6.62}, {'connected_gene': 'SDHC', 'score': 6.46}, {'connected_gene': 'ATF6', 'score': 6.31}, {'connected_gene': 'GC01P161959', 'score': 0.77}, {'connected_gene': 'PIR31181', 'score': 0.28}]
chr1 GH01I161367 161367239 161368731 1.48 [{'connected_gene': 'CFAP126', 'score': 550.77}, {'connected_gene': 'SDHC', 'score': 24.19}, {'connected_gene': 'RRM2P2', 'score': 0.39}]
chr1 GH01I161764 161764723 161767431 2.13 [{'connected_gene': 'ATF6', 'score': 560.16}, {'connected_gene': 'LOC102724329', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 14.29}, {'connected_gene': 'PPOX', 'score': 12.13}, {'connected_gene': 'USP21', 'score': 11.99}, {'connected_gene': 'DEDD', 'score': 9.98}, {'connected_gene': 'UAP1', 'score': 9.88}, {'connected_gene': 'TSTD1', 'score': 5.69}, {'connected_gene': 'FCRLB', 'score': 4.51}, {'connected_gene': 'SDHC', 'score': 4.42}, {'connected_gene': 'GC01M161748', 'score': 0.37}]
chr1 GH01I161626 161626001 161627663 0.6 [{'connected_gene': 'FCGR3B', 'score': 14.08}, {'connected_gene': 'FCGR2C', 'score': 4.78}, {'connected_gene': 'SDHC', 'score': 4.5}, {'connected_gene': 'GC01P161621', 'score': 0.44}]
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 GH01I161401 161401842 161403267 0.49 [{'connected_gene': 'RNU6-481P', 'score': 550.77}, {'connected_gene': 'SDHC', 'score': 27.82}, {'connected_gene': 'PIR42835', 'score': 0.77}, {'connected_gene': 'ENSG00000283696', 'score': 0.77}]
chr1 GH01I161439 161439670 161441001 1.52 [{'connected_gene': 'TRL-CAG1-1', 'score': 550.77}, {'connected_gene': 'GC01M161459', 'score': 550.77}, {'connected_gene': 'TRD-GTC2-1', 'score': 550.77}, {'connected_gene': 'TRG-TCC4-1', 'score': 550.77}, {'connected_gene': 'FCGR2C', 'score': 17.78}, {'connected_gene': 'SDHC', 'score': 7.5}, {'connected_gene': 'RPS23P10', 'score': 5.96}, {'connected_gene': 'TRD-GTC2-5', 'score': 0.29}]
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 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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