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
ENST00000525907 [[67182438, 67182687], [67182838, 67182957]] None
ENST00000529925 [[67182831, 67182988], [67183646, 67183673], [67184877, 67185148], [67185901, 67185992]] None
ENST00000531040 [[67183148, 67183234], [67183646, 67183673], [67184877, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188148], [67188226, 67188311], [67188409, 67188690], [67190845, 67192155]] [[67183670, 67183673], [67184877, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188148], [67188226, 67188311], [67188409, 67188690], [67190845, 67192072]]
ENST00000531958 [[67183148, 67183234], [67183646, 67185148], [67185901, 67185991], [67186226, 67186669], [67192460, 67192708]] None
ENST00000423745 [[67183148, 67183234], [67183646, 67183673], [67184877, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67193076]] [[67186231, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67192072]]
ENST00000307823 [[67183148, 67183234], [67184877, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67193078]] [[67186231, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67192072]]
ENST00000445895 [[67183556, 67183673], [67184877, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67193076]] [[67183670, 67183673], [67184877, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67192072]]
ENST00000531388 [[67183666, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67193076]] None
ENST00000524740 [[67188578, 67188690], [67190845, 67191311]] None
NM_020811 [[67183148, 67183234], [67184877, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67193078]] [[67186231, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67192072]]
NM_001166222 [[67183148, 67183234], [67183646, 67183673], [67184877, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67193078]] [[67183670, 67183673], [67184877, 67185148], [67185901, 67185991], [67186226, 67186714], [67186957, 67187132], [67187223, 67187309], [67188079, 67188311], [67188409, 67188690], [67190845, 67192072]]
Promoter
Chrom Start End Description
chr11 67182776 67182814 CAGE_peak_2_at_CARNS1_5end
chr11 67182815 67182840 CAGE_peak_3_at_CARNS1_5end
chr11 67183141 67183159 CAGE_peak_1_at_CARNS1_5end
chr11 67183589 67183600 CAGE_peak_6_at_CARNS1_5end
chr11 67190503 67190512 CAGE_peak_8_at_CARNS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I067467 67467175 67469868 2.2 [{'connected_gene': 'TMEM134', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 55.27}, {'connected_gene': 'CARNS1', 'score': 9.16}, {'connected_gene': 'GC11M067462', 'score': 0.44}]
chr11 GH11I067427 67427357 67429809 2.06 [{'connected_gene': 'RPS6KB2', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 55.65}, {'connected_gene': 'CARNS1', 'score': 8.3}, {'connected_gene': 'RPS6KB2-AS1', 'score': 0.44}]
chr11 GH11I067390 67390770 67392985 2.07 [{'connected_gene': 'RAD9A', 'score': 572.59}, {'connected_gene': 'PIR46028', 'score': 550.77}, {'connected_gene': 'KMT5B', 'score': 42.09}, {'connected_gene': 'ENSG00000258297', 'score': 41.46}, {'connected_gene': 'RBM14', 'score': 40.98}, {'connected_gene': 'RBM4', 'score': 36.85}, {'connected_gene': 'MRPL11', 'score': 18.91}, {'connected_gene': 'KDM2A', 'score': 16.9}, {'connected_gene': 'RHOD', 'score': 12.6}, {'connected_gene': 'FAM86C2P', 'score': 12.42}, {'connected_gene': 'RCE1', 'score': 12.11}, {'connected_gene': 'CCS', 'score': 11.5}, {'connected_gene': 'CLCF1', 'score': 11.46}, {'connected_gene': 'CARNS1', 'score': 11.1}, {'connected_gene': 'CORO1B', 'score': 10.68}, {'connected_gene': 'PTPRCAP', 'score': 10.35}, {'connected_gene': 'ENSG00000255031', 'score': 9.69}, {'connected_gene': 'SSH3', 'score': 8.75}, {'connected_gene': 'ENSG00000275484', 'score': 0.37}, {'connected_gene': 'LOC100130987', 'score': 0.19}]
chr11 GH11I067344 67344270 67347301 1.28 [{'connected_gene': 'RAD9A', 'score': 23.88}, {'connected_gene': 'ENSG00000258297', 'score': 19.02}, {'connected_gene': 'KMT5B', 'score': 18.03}, {'connected_gene': 'RBM14', 'score': 16.55}, {'connected_gene': 'RBM4', 'score': 15.97}, {'connected_gene': 'KDM2A', 'score': 14.86}, {'connected_gene': 'CLCF1', 'score': 12.51}, {'connected_gene': 'ENSG00000256514', 'score': 12.51}, {'connected_gene': 'RCE1', 'score': 11.78}, {'connected_gene': 'SSH3', 'score': 11.69}, {'connected_gene': 'ANKRD13D', 'score': 11.65}, {'connected_gene': 'RPS6KB2', 'score': 11.36}, {'connected_gene': 'PPP1CA', 'score': 11.35}, {'connected_gene': 'RNU6-1238P', 'score': 11.3}, {'connected_gene': 'TBC1D10C', 'score': 11.27}, {'connected_gene': 'CARNS1', 'score': 11.25}, {'connected_gene': 'RHOD', 'score': 4.45}, {'connected_gene': 'GC11P067352', 'score': 0.44}, {'connected_gene': 'LOC100130987', 'score': 0.31}]
chr11 GH11I067347 67347906 67350214 1.35 [{'connected_gene': 'RAD9A', 'score': 24.3}, {'connected_gene': 'ENSG00000256514', 'score': 12.54}, {'connected_gene': 'CLCF1', 'score': 12.51}, {'connected_gene': 'RCE1', 'score': 12.41}, {'connected_gene': 'RNU6-1238P', 'score': 11.7}, {'connected_gene': 'TBC1D10C', 'score': 11.69}, {'connected_gene': 'SSH3', 'score': 11.67}, {'connected_gene': 'CARNS1', 'score': 11.66}, {'connected_gene': 'PPP1CA', 'score': 11.65}, {'connected_gene': 'ANKRD13D', 'score': 11.63}, {'connected_gene': 'GC11P067352', 'score': 0.77}, {'connected_gene': 'LOC100130987', 'score': 0.29}]
chr11 GH11I067378 67378458 67380273 1.31 [{'connected_gene': 'PTPRCAP', 'score': 12.24}, {'connected_gene': 'CARNS1', 'score': 11.08}, {'connected_gene': 'ENSG00000275484', 'score': 0.77}, {'connected_gene': 'PIR46028', 'score': 0.39}, {'connected_gene': 'RAD9A', 'score': 0.21}, {'connected_gene': 'LOC100130987', 'score': 0.21}]
chr11 GH11I067433 67433006 67447750 2.23 [{'connected_gene': 'PTPRCAP', 'score': 607.43}, {'connected_gene': 'CORO1B', 'score': 550.77}, {'connected_gene': 'CARNS1', 'score': 11.16}, {'connected_gene': 'SSH3', 'score': 6.95}, {'connected_gene': 'RPS6KB2-AS1', 'score': 0.77}, {'connected_gene': 'RPS6KB2', 'score': 0.39}]
chr11 GH11I067382 67382236 67382272 0.51 [{'connected_gene': 'POLD4', 'score': 13.15}, {'connected_gene': 'CARNS1', 'score': 12.02}, {'connected_gene': 'PPP1CA', 'score': 12.0}, {'connected_gene': 'PTPRCAP', 'score': 11.84}, {'connected_gene': 'RPS6KB2', 'score': 11.75}, {'connected_gene': 'RPS6KB2-AS1', 'score': 11.73}, {'connected_gene': 'ENSG00000275484', 'score': 0.44}, {'connected_gene': 'PIR46028', 'score': 0.39}, {'connected_gene': 'LOC100130987', 'score': 0.21}, {'connected_gene': 'RAD9A', 'score': 0.21}]
chr11 GH11I067350 67350810 67358653 2.59 [{'connected_gene': 'POLD4', 'score': 552.76}, {'connected_gene': 'ENSG00000274251', 'score': 550.77}, {'connected_gene': 'RBM14', 'score': 13.36}, {'connected_gene': 'SSH3', 'score': 13.35}, {'connected_gene': 'ANKRD13D', 'score': 12.58}, {'connected_gene': 'KDM2A', 'score': 11.7}, {'connected_gene': 'PTPRCAP', 'score': 11.68}, {'connected_gene': 'RHOD', 'score': 10.46}, {'connected_gene': 'RBM4', 'score': 10.24}, {'connected_gene': 'CARNS1', 'score': 7.36}, {'connected_gene': 'CLCF1', 'score': 2.0}, {'connected_gene': 'GC11P067352', 'score': 0.77}, {'connected_gene': 'ENSG00000256514', 'score': 0.37}, {'connected_gene': 'LOC100130987', 'score': 0.28}, {'connected_gene': 'RAD9A', 'score': 0.28}]
chr11 GH11I067466 67466264 67467149 0.72 [{'connected_gene': 'CARNS1', 'score': 10.73}, {'connected_gene': 'GC11M067462', 'score': 0.77}, {'connected_gene': 'TMEM134', 'score': 0.77}]
chr11 GH11I067414 67414870 67421807 2.16 [{'connected_gene': 'CARNS1', 'score': 557.84}, {'connected_gene': 'RAD9A', 'score': 18.61}, {'connected_gene': 'PTPRCAP', 'score': 11.88}, {'connected_gene': 'SSH3', 'score': 9.45}, {'connected_gene': 'ANKRD13D', 'score': 5.71}, {'connected_gene': 'C11orf80', 'score': 5.15}, {'connected_gene': 'PPP1CA', 'score': 0.77}]
chr11 GH11I067380 67380719 67382118 1.03 [{'connected_gene': 'CARNS1', 'score': 22.82}, {'connected_gene': 'SSH3', 'score': 16.03}, {'connected_gene': 'POLD4', 'score': 13.18}, {'connected_gene': 'PPP1CA', 'score': 12.0}, {'connected_gene': 'PTPRCAP', 'score': 11.84}, {'connected_gene': 'RPS6KB2', 'score': 11.75}, {'connected_gene': 'RPS6KB2-AS1', 'score': 11.73}, {'connected_gene': 'ENSG00000275484', 'score': 0.44}, {'connected_gene': 'PIR46028', 'score': 0.39}, {'connected_gene': 'LOC100130987', 'score': 0.21}, {'connected_gene': 'RAD9A', 'score': 0.21}]
chr11 GH11I067462 67462730 67466088 1.74 [{'connected_gene': 'PPP6R3', 'score': 31.16}, {'connected_gene': 'ENSG00000258297', 'score': 30.23}, {'connected_gene': 'KMT5B', 'score': 27.97}, {'connected_gene': 'RBM14', 'score': 24.59}, {'connected_gene': 'RBM4', 'score': 22.45}, {'connected_gene': 'MRPL11', 'score': 18.69}, {'connected_gene': 'CORO1B', 'score': 12.24}, {'connected_gene': 'SSH3', 'score': 11.25}, {'connected_gene': 'KDM2A', 'score': 11.19}, {'connected_gene': 'CARNS1', 'score': 9.17}, {'connected_gene': 'RAD9A', 'score': 6.56}, {'connected_gene': 'PTPRCAP', 'score': 6.54}, {'connected_gene': 'RPL37P2', 'score': 5.02}, {'connected_gene': 'GC11M067462', 'score': 0.77}, {'connected_gene': 'TMEM134', 'score': 0.77}]
chr11 GH11I067482 67482216 67488518 2.49 [{'connected_gene': 'AIP', 'score': 552.1}, {'connected_gene': 'GC11P067486', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 54.41}, {'connected_gene': 'RBM4B', 'score': 13.67}, {'connected_gene': 'KMT5B', 'score': 13.52}, {'connected_gene': 'RBM14', 'score': 13.51}, {'connected_gene': 'BBS1', 'score': 13.28}, {'connected_gene': 'CARNS1', 'score': 11.23}, {'connected_gene': 'ENSG00000258297', 'score': 10.72}, {'connected_gene': 'RBM4', 'score': 9.68}, {'connected_gene': 'ALDH3B2', 'score': 7.13}, {'connected_gene': 'NUDT8', 'score': 2.1}]
chr11 GH11I067422 67422744 67423659 0.64 [{'connected_gene': 'PPP1CA', 'score': 0.77}, {'connected_gene': 'CARNS1', 'score': 0.44}, {'connected_gene': 'RPS6KB2', 'score': 0.44}]
chr11 GH11I067412 67412500 67412989 0.69 [{'connected_gene': 'SSH3', 'score': 12.07}, {'connected_gene': 'CARNS1', 'score': 0.77}, {'connected_gene': 'PPP1CA', 'score': 0.44}, {'connected_gene': 'TBC1D10C', 'score': 0.44}]
chr11 GH11I067247 67247128 67249530 1.04 [{'connected_gene': 'SSH3', 'score': 14.09}, {'connected_gene': 'ENSG00000256514', 'score': 11.5}, {'connected_gene': 'CLCF1', 'score': 11.5}, {'connected_gene': 'KDM2A', 'score': 10.73}, {'connected_gene': 'CARNS1', 'score': 7.01}, {'connected_gene': 'PIR44214', 'score': 0.77}, {'connected_gene': 'PIR33652', 'score': 0.37}]
chr11 GH11I067523 67523436 67523495 0.5 [{'connected_gene': 'CABP2', 'score': 550.77}, {'connected_gene': 'CARNS1', 'score': 4.47}, {'connected_gene': 'CDK2AP2', 'score': 0.39}]
chr11 GH11I067401 67400230 67412231 2.21 [{'connected_gene': 'TBC1D10C', 'score': 554.72}, {'connected_gene': 'PPP1CA', 'score': 550.39}, {'connected_gene': 'SSH3', 'score': 12.14}, {'connected_gene': 'PTPRCAP', 'score': 11.81}, {'connected_gene': 'CARNS1', 'score': 10.6}, {'connected_gene': 'RAD9A', 'score': 8.37}, {'connected_gene': 'AIP', 'score': 4.58}]
chr11 GH11I067310 67310383 67314778 1.37 [{'connected_gene': 'RHOD', 'score': 22.86}, {'connected_gene': 'PTPRCAP', 'score': 11.63}, {'connected_gene': 'LRP5', 'score': 10.2}, {'connected_gene': 'RAD9A', 'score': 6.63}, {'connected_gene': 'CARNS1', 'score': 5.6}, {'connected_gene': 'RIN1', 'score': 4.46}, {'connected_gene': 'LOC100130987', 'score': 0.44}, {'connected_gene': 'SSH3', 'score': 0.44}]
chr11 GH11I067144 67144966 67146834 0.88 [{'connected_gene': 'KDM2A', 'score': 11.82}, {'connected_gene': 'PTPRCAP', 'score': 11.5}, {'connected_gene': 'RHOD', 'score': 10.97}, {'connected_gene': 'SSH3', 'score': 7.84}, {'connected_gene': 'CARNS1', 'score': 5.14}, {'connected_gene': 'ENSG00000179038', 'score': 0.23}]
chr11 GH11I067116 67116867 67122539 2.22 [{'connected_gene': 'KDM2A', 'score': 600.06}, {'connected_gene': 'ENSG00000258297', 'score': 125.36}, {'connected_gene': 'RBM14', 'score': 116.21}, {'connected_gene': 'ENSG00000254461', 'score': 108.43}, {'connected_gene': 'LOC105369352', 'score': 102.71}, {'connected_gene': 'RBM4', 'score': 64.52}, {'connected_gene': 'RCE1', 'score': 52.76}, {'connected_gene': 'RAD9A', 'score': 51.31}, {'connected_gene': 'ENSG00000245156', 'score': 51.2}, {'connected_gene': 'ENSG00000255320', 'score': 31.79}, {'connected_gene': 'SSH3', 'score': 29.73}, {'connected_gene': 'BBS1', 'score': 28.31}, {'connected_gene': 'CORO1B', 'score': 21.35}, {'connected_gene': 'FAM86C2P', 'score': 20.99}, {'connected_gene': 'RPS6KB2', 'score': 20.75}, {'connected_gene': 'CD248', 'score': 19.64}, {'connected_gene': 'KLC2', 'score': 19.48}, {'connected_gene': 'MRPL11', 'score': 18.34}, {'connected_gene': 'RBM4B', 'score': 13.8}, {'connected_gene': 'B4GAT1', 'score': 12.64}, {'connected_gene': 'CCS', 'score': 11.51}, {'connected_gene': 'PTPRCAP', 'score': 11.49}, {'connected_gene': 'RAB1B', 'score': 11.38}, {'connected_gene': 'CLCF1', 'score': 10.03}, {'connected_gene': 'PELI3', 'score': 9.97}, {'connected_gene': 'BRMS1', 'score': 9.83}, {'connected_gene': 'LOC101928069', 'score': 9.75}, {'connected_gene': 'CARNS1', 'score': 5.77}, {'connected_gene': 'ENSG00000179038', 'score': 0.18}]
chr11 GH11I067265 67265720 67291208 2.6 [{'connected_gene': 'GRK2', 'score': 563.68}, {'connected_gene': 'ANKRD13D', 'score': 562.59}, {'connected_gene': 'SSH3', 'score': 14.94}, {'connected_gene': 'KDM2A', 'score': 13.24}, {'connected_gene': 'PTPRCAP', 'score': 11.31}, {'connected_gene': 'RHOD', 'score': 8.24}, {'connected_gene': 'CARNS1', 'score': 7.45}, {'connected_gene': 'C11orf80', 'score': 7.27}, {'connected_gene': 'PC', 'score': 6.98}, {'connected_gene': 'RAD9A', 'score': 5.91}, {'connected_gene': 'PITPNM1', 'score': 5.14}, {'connected_gene': 'LOC102724064', 'score': 4.58}, {'connected_gene': 'CTSF', 'score': 4.02}, {'connected_gene': 'TBC1D10C', 'score': 3.53}]
chr11 GH11I067488 67488968 67492884 0.54 [{'connected_gene': 'MIR6752', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 28.4}, {'connected_gene': 'CARNS1', 'score': 11.23}, {'connected_gene': 'C11orf80', 'score': 5.3}, {'connected_gene': 'CDK2AP2', 'score': 4.81}, {'connected_gene': 'AIP', 'score': 0.44}, {'connected_gene': 'PITPNM1', 'score': 0.37}]
chr11 GH11I066920 66920077 66920181 0.44 [{'connected_gene': 'RNU7-23P', 'score': 550.77}, {'connected_gene': 'GC11P066920', 'score': 550.77}, {'connected_gene': 'CARNS1', 'score': 1.52}, {'connected_gene': 'GC11P066933', 'score': 0.39}, {'connected_gene': 'PC', 'score': 0.28}]
chr11 GH11I067316 67316428 67318713 1.56 [{'connected_gene': 'LOC100130987', 'score': 550.77}, {'connected_gene': 'RAD9A', 'score': 550.77}, {'connected_gene': 'SSH3', 'score': 21.83}, {'connected_gene': 'ENSG00000258297', 'score': 17.15}, {'connected_gene': 'RBM4', 'score': 14.28}, {'connected_gene': 'KMT5B', 'score': 13.82}, {'connected_gene': 'RBM14', 'score': 13.16}, {'connected_gene': 'GRK2', 'score': 12.77}, {'connected_gene': 'UNC93B1', 'score': 12.57}, {'connected_gene': 'POLD4', 'score': 12.37}, {'connected_gene': 'RN7SKP239', 'score': 12.36}, {'connected_gene': 'CLCF1', 'score': 12.32}, {'connected_gene': 'ENSG00000256514', 'score': 12.32}, {'connected_gene': 'CORO1B', 'score': 12.03}, {'connected_gene': 'RNU6-1238P', 'score': 11.74}, {'connected_gene': 'TBC1D10C', 'score': 11.72}, {'connected_gene': 'CARNS1', 'score': 11.71}, {'connected_gene': 'PPP1CA', 'score': 11.7}, {'connected_gene': 'KDM2A', 'score': 11.22}, {'connected_gene': 'MRPL11', 'score': 10.47}, {'connected_gene': 'RHOD', 'score': 6.58}]
chr11 GH11I067383 67382401 67383198 1.28 [{'connected_gene': 'ENSG00000258297', 'score': 19.43}, {'connected_gene': 'RAD9A', 'score': 19.01}, {'connected_gene': 'KMT5B', 'score': 17.01}, {'connected_gene': 'RBM4', 'score': 14.62}, {'connected_gene': 'RBM14', 'score': 14.57}, {'connected_gene': 'CORO1B', 'score': 13.43}, {'connected_gene': 'RN7SKP239', 'score': 13.18}, {'connected_gene': 'POLD4', 'score': 13.15}, {'connected_gene': 'KDM2A', 'score': 12.2}, {'connected_gene': 'CARNS1', 'score': 12.02}, {'connected_gene': 'PPP1CA', 'score': 12.0}, {'connected_gene': 'PTPRCAP', 'score': 11.84}, {'connected_gene': 'RPS6KB2', 'score': 11.75}, {'connected_gene': 'RPS6KB2-AS1', 'score': 11.73}, {'connected_gene': 'CLCF1', 'score': 11.06}, {'connected_gene': 'SSH3', 'score': 10.92}, {'connected_gene': 'CCS', 'score': 9.89}, {'connected_gene': 'PIR46028', 'score': 0.44}, {'connected_gene': 'ENSG00000275484', 'score': 0.44}, {'connected_gene': 'LOC100130987', 'score': 0.21}]
chr11 GH11I067458 67458868 67460822 0.69 [{'connected_gene': 'GC11P067462', 'score': 550.77}, {'connected_gene': 'PTPRCAP', 'score': 36.46}, {'connected_gene': 'CARNS1', 'score': 11.47}, {'connected_gene': 'GPR152', 'score': 0.44}, {'connected_gene': 'CABP4', 'score': 0.44}]
chr11 GH11I067245 67245490 67246756 0.43 [{'connected_gene': 'PIR44214', 'score': 550.77}, {'connected_gene': 'CARNS1', 'score': 7.01}, {'connected_gene': 'PTPRCAP', 'score': 4.98}, {'connected_gene': 'PIR33652', 'score': 0.37}, {'connected_gene': 'KDM2A', 'score': 0.13}]
chr11 GH11I067452 67452049 67453000 1.22 [{'connected_gene': 'GC11M067454', 'score': 550.77}, {'connected_gene': 'GPR152', 'score': 550.77}, {'connected_gene': 'CABP4', 'score': 550.77}, {'connected_gene': 'CARNS1', 'score': 10.53}]

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