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}]