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
ENST00000530623 [[67195930, 67196094], [67196590, 67196711], [67196997, 67197066], [67198838, 67199053]] [[67196016, 67196094], [67196590, 67196608]]
ENST00000556575 [[67195953, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67199826, 67199963], [67200070, 67200128], [67200207, 67200308], [67200422, 67200456]] [[67196016, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67199826, 67199831]]
ENST00000524934 [[67195964, 67196094], [67196383, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198874]] [[67196016, 67196094], [67196383, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198874]]
ENST00000524814 [[67195964, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67200070, 67200128], [67200207, 67200308], [67200422, 67200452]] None
ENST00000420069 [[67195968, 67196094], [67196590, 67196711], [67196997, 67197066], [67200207, 67200308], [67200422, 67200466]] [[67196016, 67196094], [67196590, 67196608]]
ENST00000539188 [[67195968, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67199823, 67199963], [67200070, 67200128], [67200207, 67200308], [67200422, 67200536]] [[67196016, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67199823, 67199831]]
ENST00000312629 [[67195971, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67200070, 67200128], [67200207, 67200308], [67200422, 67200513], [67200596, 67200687], [67200810, 67200918], [67201465, 67201528], [67201668, 67201746], [67201847, 67201955], [67202052, 67202165], [67202459, 67202872]] [[67196016, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67200070, 67200128], [67200207, 67200308], [67200422, 67200513], [67200596, 67200687], [67200810, 67200918], [67201465, 67201528], [67201668, 67201746], [67201847, 67201955], [67202052, 67202165], [67202459, 67202640]]
ENST00000528964 [[67195974, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67199823, 67199963], [67200070, 67200128], [67200207, 67200308], [67200422, 67200513], [67200596, 67200687], [67200810, 67200918], [67201465, 67201528], [67201668, 67201746], [67201847, 67201955], [67202052, 67202165], [67202459, 67202815]] [[67196016, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67199823, 67199831]]
ENST00000525088 [[67195975, 67196711], [67196997, 67200128], [67200207, 67200308], [67200422, 67200665], [67200810, 67200918], [67201465, 67201746], [67201847, 67201955], [67202052, 67202872]] None
ENST00000525996 [[67196997, 67197066], [67198838, 67198986], [67200070, 67200128], [67200422, 67200513], [67200596, 67200687], [67200810, 67200918], [67201465, 67201528], [67201668, 67201746], [67201847, 67201955], [67202052, 67202165], [67202459, 67202489]] [[67196997, 67197066], [67198838, 67198986], [67200070, 67200128], [67200422, 67200471]]
ENST00000525726 [[67199710, 67200128], [67200207, 67200286]] None
ENST00000526268 [[67200246, 67200308], [67200422, 67200513], [67200596, 67200918], [67201465, 67201528], [67201668, 67201746], [67201847, 67201955], [67202052, 67202115]] None
ENST00000531765 [[67200914, 67200918], [67201465, 67201528], [67201668, 67201746], [67201847, 67202425]] None
NM_003952 [[67195934, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67200070, 67200128], [67200207, 67200308], [67200422, 67200513], [67200596, 67200687], [67200810, 67200918], [67201465, 67201528], [67201668, 67201746], [67201847, 67201955], [67202052, 67202165], [67202459, 67202879]] [[67196016, 67196094], [67196452, 67196493], [67196590, 67196711], [67196997, 67197066], [67198838, 67198986], [67200070, 67200128], [67200207, 67200308], [67200422, 67200513], [67200596, 67200687], [67200810, 67200918], [67201465, 67201528], [67201668, 67201746], [67201847, 67201955], [67202052, 67202165], [67202459, 67202640]]
Promoter
Chrom Start End Description
chr11 67195917 67195996 CAGE_peak_1_at_RPS6KB2_5end
chr11 67201419 67201430 CAGE_peak_6_at_RPS6KB2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I067652 67652310 67653114 0.62 [{'connected_gene': 'ACY3', 'score': 559.97}, {'connected_gene': 'ENSG00000227834', 'score': 550.77}, {'connected_gene': 'PPP6R3', 'score': 19.2}, {'connected_gene': 'ENSG00000258297', 'score': 19.02}, {'connected_gene': 'KMT5B', 'score': 18.03}, {'connected_gene': 'ENSG00000260808', 'score': 15.77}, {'connected_gene': 'KDM2A', 'score': 14.82}, {'connected_gene': 'RAD9A', 'score': 12.57}, {'connected_gene': 'RCE1', 'score': 11.78}, {'connected_gene': 'RPS6KB2', 'score': 11.26}, {'connected_gene': 'NUDT8', 'score': 6.21}]
chr11 GH11I066949 66949546 66953828 1.69 [{'connected_gene': 'ACTN3', 'score': 16.85}, {'connected_gene': 'ENSG00000258297', 'score': 13.0}, {'connected_gene': 'SYT12', 'score': 11.65}, {'connected_gene': 'RBM14', 'score': 10.34}, {'connected_gene': 'ENSG00000254461', 'score': 10.09}, {'connected_gene': 'RHOD', 'score': 7.03}, {'connected_gene': 'RPS6KB2', 'score': 6.19}, {'connected_gene': 'LOC101928069', 'score': 5.58}, {'connected_gene': 'CLCF1', 'score': 4.8}, {'connected_gene': 'GRK2', 'score': 2.91}, {'connected_gene': 'LOC105369355', 'score': 0.77}, {'connected_gene': 'PC', 'score': 0.44}, {'connected_gene': 'MIR3163', 'score': 0.37}]
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 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 GH11I066508 66508662 66511595 2.06 [{'connected_gene': 'BBS1', 'score': 550.77}, {'connected_gene': 'ENSG00000256349', 'score': 550.77}, {'connected_gene': 'ENSG00000258297', 'score': 36.55}, {'connected_gene': 'RBM14', 'score': 29.35}, {'connected_gene': 'RBM4', 'score': 28.81}, {'connected_gene': 'DPP3', 'score': 26.15}, {'connected_gene': 'EIF1AD', 'score': 26.11}, {'connected_gene': 'KDM2A', 'score': 25.15}, {'connected_gene': 'PCNX3', 'score': 24.96}, {'connected_gene': 'ENSG00000245156', 'score': 24.87}, {'connected_gene': 'MUS81', 'score': 23.64}, {'connected_gene': 'SART1', 'score': 23.04}, {'connected_gene': 'RAD9A', 'score': 22.88}, {'connected_gene': 'RELA', 'score': 21.18}, {'connected_gene': 'ENSG00000255038', 'score': 20.22}, {'connected_gene': 'ENSG00000255320', 'score': 19.97}, {'connected_gene': 'SF3B2', 'score': 17.94}, {'connected_gene': 'CTSF', 'score': 15.53}, {'connected_gene': 'CORO1B', 'score': 13.25}, {'connected_gene': 'RCE1', 'score': 11.81}, {'connected_gene': 'LOC101928069', 'score': 11.71}, {'connected_gene': 'MRPL11', 'score': 11.66}, {'connected_gene': 'PELI3', 'score': 11.66}, {'connected_gene': 'RPS6KB2', 'score': 11.21}, {'connected_gene': 'EHBP1L1', 'score': 10.79}, {'connected_gene': 'SSH3', 'score': 10.77}, {'connected_gene': 'RNU1-84P', 'score': 10.67}, {'connected_gene': 'BRD9P1', 'score': 10.67}, {'connected_gene': 'CLCF1', 'score': 10.65}, {'connected_gene': 'ZDHHC24', 'score': 10.59}, {'connected_gene': 'ACTN3', 'score': 10.59}, {'connected_gene': 'RBM4B', 'score': 10.57}, {'connected_gene': 'KAT5', 'score': 10.44}, {'connected_gene': 'LOC105369352', 'score': 10.15}, {'connected_gene': 'ENSG00000201733', 'score': 10.09}, {'connected_gene': 'CCS', 'score': 10.04}]
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 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 GH11I067422 67422744 67423659 0.64 [{'connected_gene': 'PPP1CA', 'score': 0.77}, {'connected_gene': 'CARNS1', 'score': 0.44}, {'connected_gene': 'RPS6KB2', 'score': 0.44}]
chr11 GH11I067251 67251936 67255454 0.82 [{'connected_gene': 'SSH3', 'score': 28.91}, {'connected_gene': 'ANKRD13D', 'score': 25.26}, {'connected_gene': 'POLD4', 'score': 11.78}, {'connected_gene': 'RN7SKP239', 'score': 11.78}, {'connected_gene': 'ENSG00000256514', 'score': 11.76}, {'connected_gene': 'CLCF1', 'score': 11.76}, {'connected_gene': 'PPP1CA', 'score': 10.82}, {'connected_gene': 'RPS6KB2', 'score': 10.66}, {'connected_gene': 'PTPRCAP', 'score': 10.66}, {'connected_gene': 'RPS6KB2-AS1', 'score': 10.66}, {'connected_gene': 'RHOD', 'score': 7.73}, {'connected_gene': 'PIR44214', 'score': 0.44}, {'connected_gene': 'PIR33652', 'score': 0.39}, {'connected_gene': 'KDM2A', 'score': 0.12}]
chr11 GH11I068098 68098678 68103406 1.41 [{'connected_gene': 'KMT5B', 'score': 143.7}, {'connected_gene': 'PPP6R3', 'score': 98.0}, {'connected_gene': 'MRGPRF-AS1', 'score': 81.14}, {'connected_gene': 'ENSG00000260808', 'score': 62.32}, {'connected_gene': 'MRGPRF', 'score': 60.16}, {'connected_gene': 'ENSG00000261625', 'score': 57.57}, {'connected_gene': 'TPCN2', 'score': 53.52}, {'connected_gene': 'RAD9A', 'score': 51.26}, {'connected_gene': 'KDM2A', 'score': 49.31}, {'connected_gene': 'SSH3', 'score': 29.67}, {'connected_gene': 'IGHMBP2', 'score': 28.95}, {'connected_gene': 'CORO1B', 'score': 21.33}, {'connected_gene': 'FAM86C2P', 'score': 21.02}, {'connected_gene': 'RPS6KB2', 'score': 20.72}, {'connected_gene': 'ENSG00000255031', 'score': 15.89}, {'connected_gene': 'TCIRG1', 'score': 11.96}, {'connected_gene': 'NDUFS8', 'score': 11.95}, {'connected_gene': 'CLCF1', 'score': 9.98}, {'connected_gene': 'CHKA', 'score': 0.34}, {'connected_gene': 'GC11M068058', 'score': 0.28}]
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 GH11I067338 67338523 67338825 0.24 [{'connected_gene': 'RN7SKP239', 'score': 12.92}, {'connected_gene': 'ENSG00000256514', 'score': 12.88}, {'connected_gene': 'CLCF1', 'score': 12.86}, {'connected_gene': 'SSH3', 'score': 12.27}, {'connected_gene': 'ANKRD13D', 'score': 12.22}, {'connected_gene': 'PPP1CA', 'score': 11.37}, {'connected_gene': 'PTPRCAP', 'score': 11.11}, {'connected_gene': 'RPS6KB2', 'score': 10.76}, {'connected_gene': 'RPS6KB2-AS1', 'score': 10.75}, {'connected_gene': 'RHOD', 'score': 9.75}, {'connected_gene': 'KDM2A', 'score': 9.69}, {'connected_gene': 'GC11P067352', 'score': 0.39}, {'connected_gene': 'LOC100130987', 'score': 0.34}, {'connected_gene': 'RAD9A', 'score': 0.34}]
chr11 GH11I066996 66996538 66998030 0.92 [{'connected_gene': 'RBM14', 'score': 91.42}, {'connected_gene': 'LOC105369352', 'score': 76.58}, {'connected_gene': 'ENSG00000254461', 'score': 68.72}, {'connected_gene': 'ENSG00000258297', 'score': 68.16}, {'connected_gene': 'RBM4', 'score': 53.79}, {'connected_gene': 'ENSG00000255038', 'score': 50.66}, {'connected_gene': 'SF3B2', 'score': 47.33}, {'connected_gene': 'RAD9A', 'score': 42.41}, {'connected_gene': 'RCE1', 'score': 41.91}, {'connected_gene': 'ENSG00000245156', 'score': 41.79}, {'connected_gene': 'EIF1AD', 'score': 41.59}, {'connected_gene': 'KDM2A', 'score': 39.91}, {'connected_gene': 'ENSG00000255320', 'score': 22.52}, {'connected_gene': 'RPS6KB2', 'score': 20.74}, {'connected_gene': 'KLC2', 'score': 19.48}, {'connected_gene': 'MRPL11', 'score': 18.34}, {'connected_gene': 'B4GAT1', 'score': 12.64}, {'connected_gene': 'CORO1B', 'score': 12.5}, {'connected_gene': 'FAM86C2P', 'score': 12.4}, {'connected_gene': 'BBS1', 'score': 11.64}, {'connected_gene': 'CCS', 'score': 11.53}, {'connected_gene': 'RAB1B', 'score': 11.38}, {'connected_gene': 'RHOD', 'score': 11.01}, {'connected_gene': 'SSH3', 'score': 10.25}, {'connected_gene': 'CLCF1', 'score': 10.01}, {'connected_gene': 'PELI3', 'score': 9.97}, {'connected_gene': 'BRMS1', 'score': 9.83}, {'connected_gene': 'LOC101928069', 'score': 9.75}, {'connected_gene': 'SYT12', 'score': 0.44}, {'connected_gene': 'C11orf86', 'score': 0.34}]
chr11 GH11I066478 66478670 66482016 2.08 [{'connected_gene': 'DPP3', 'score': 566.97}, {'connected_gene': 'LOC101928069', 'score': 555.72}, {'connected_gene': 'EIF1AD', 'score': 45.33}, {'connected_gene': 'ACTN3', 'score': 43.55}, {'connected_gene': 'RBM14', 'score': 39.08}, {'connected_gene': 'RBM4', 'score': 37.73}, {'connected_gene': 'PCNX3', 'score': 37.46}, {'connected_gene': 'KDM2A', 'score': 36.73}, {'connected_gene': 'ENSG00000258297', 'score': 36.42}, {'connected_gene': 'LOC105369352', 'score': 29.31}, {'connected_gene': 'SCYL1', 'score': 28.4}, {'connected_gene': 'MRPL11', 'score': 27.8}, {'connected_gene': 'SART1', 'score': 25.96}, {'connected_gene': 'RELA', 'score': 25.87}, {'connected_gene': 'MUS81', 'score': 25.33}, {'connected_gene': 'ENSG00000255320', 'score': 25.26}, {'connected_gene': 'ENSG00000245156', 'score': 24.49}, {'connected_gene': 'KAT5', 'score': 22.68}, {'connected_gene': 'CORO1B', 'score': 22.62}, {'connected_gene': 'SSH3', 'score': 19.67}, {'connected_gene': 'RHOD', 'score': 13.85}, {'connected_gene': 'RAD9A', 'score': 13.26}, {'connected_gene': 'ENSG00000255038', 'score': 12.14}, {'connected_gene': 'SSSCA1', 'score': 12.13}, {'connected_gene': 'RAB1B', 'score': 11.43}, {'connected_gene': 'RPS6KB2', 'score': 11.25}, {'connected_gene': 'RCE1', 'score': 11.07}, {'connected_gene': 'SF3B2', 'score': 11.0}, {'connected_gene': 'CTSF', 'score': 10.77}, {'connected_gene': 'C11orf80', 'score': 10.57}, {'connected_gene': 'CLCF1', 'score': 9.98}, {'connected_gene': 'BRMS1', 'score': 9.92}, {'connected_gene': 'ENSG00000254461', 'score': 9.76}, {'connected_gene': 'ENSG00000256349', 'score': 0.31}]
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}]

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