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
ENST00000219252 [[57496298, 57496722], [57496940, 57496990], [57499864, 57499933], [57500086, 57500139], [57503076, 57503205], [57503621, 57503673], [57503872, 57504041], [57504191, 57504266], [57504886, 57505922]] [[57496636, 57496722], [57496940, 57496990], [57499864, 57499933], [57500086, 57500139], [57503076, 57503205], [57503621, 57503673], [57503872, 57504041], [57504191, 57504266], [57504886, 57505031]]
ENST00000563115 [[57496571, 57496722], [57496940, 57496990], [57499864, 57499933], [57500086, 57500139], [57503076, 57503815]] None
ENST00000562953 [[57496578, 57496722], [57496940, 57496990], [57499864, 57499933], [57500086, 57500139], [57503076, 57503205], [57503621, 57503673], [57503872, 57504181]] None
ENST00000562599 [[57496580, 57496722], [57496940, 57496990], [57497567, 57497967], [57499864, 57499933], [57500086, 57500139], [57503076, 57503110]] [[57496636, 57496722], [57496940, 57496990], [57497567, 57497572]]
ENST00000564651 [[57496585, 57496722], [57496940, 57496990], [57499864, 57499933], [57500086, 57500139], [57503076, 57503205], [57503621, 57503673], [57503872, 57504041], [57504122, 57504183]] None
ENST00000567982 [[57496587, 57496722], [57496940, 57496990], [57499864, 57499933], [57500086, 57500139], [57503076, 57503205], [57503621, 57504320]] None
ENST00000564626 [[57496688, 57496722], [57496940, 57497424]] None
ENST00000563589 [[57499634, 57499933], [57500086, 57500139], [57503076, 57503182]] None
NM_032940 [[57496550, 57496722], [57496940, 57496990], [57499864, 57499933], [57500086, 57500139], [57503076, 57503205], [57503621, 57503673], [57503872, 57504041], [57504191, 57504266], [57504886, 57505921]] [[57496636, 57496722], [57496940, 57496990], [57499864, 57499933], [57500086, 57500139], [57503076, 57503205], [57503621, 57503673], [57503872, 57504041], [57504191, 57504266], [57504886, 57505031]]
Promoter
Chrom Start End Description
chr16 57496545 57496616 CAGE_peak_1_at_POLR2C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I056930 56930491 56940546 2.32 [{'connected_gene': 'HERPUD1', 'score': 559.75}, {'connected_gene': 'RSPRY1', 'score': 58.79}, {'connected_gene': 'NUDT21', 'score': 40.3}, {'connected_gene': 'NUP93', 'score': 36.46}, {'connected_gene': 'POLR2C', 'score': 21.24}, {'connected_gene': 'CETP', 'score': 11.83}, {'connected_gene': 'SLC12A3', 'score': 11.45}, {'connected_gene': 'LOC105371286', 'score': 11.14}, {'connected_gene': 'ENSG00000261270', 'score': 11.1}, {'connected_gene': 'NLRC5', 'score': 10.96}, {'connected_gene': 'ENSG00000272372', 'score': 10.75}, {'connected_gene': 'ARL2BP', 'score': 10.1}, {'connected_gene': 'FAM192A', 'score': 9.51}]
chr16 GH16I057626 57626369 57631200 1.96 [{'connected_gene': 'ADGRG1', 'score': 550.37}, {'connected_gene': 'RSPRY1', 'score': 140.37}, {'connected_gene': 'LOC101927556', 'score': 77.36}, {'connected_gene': 'POLR2C', 'score': 48.14}, {'connected_gene': 'NUP93', 'score': 45.78}, {'connected_gene': 'LOC105371286', 'score': 30.85}, {'connected_gene': 'SETD6', 'score': 22.65}, {'connected_gene': 'ADGRG3', 'score': 11.84}, {'connected_gene': 'CSNK2A2', 'score': 11.25}, {'connected_gene': 'CCDC102A', 'score': 10.29}, {'connected_gene': 'ARL2BP', 'score': 10.09}, {'connected_gene': 'CFAP20', 'score': 9.94}, {'connected_gene': 'CNGB1', 'score': 9.54}, {'connected_gene': 'NDRG4', 'score': 5.27}, {'connected_gene': 'CCDC113', 'score': 4.88}, {'connected_gene': 'ADGRG5', 'score': 4.64}, {'connected_gene': 'GC16M057629', 'score': 0.77}, {'connected_gene': 'ENSG00000261633', 'score': 0.77}]
chr16 GH16I057645 57645114 57649778 2.17 [{'connected_gene': 'ADGRG1', 'score': 550.28}, {'connected_gene': 'KATNB1', 'score': 12.08}, {'connected_gene': 'RSPRY1', 'score': 11.07}, {'connected_gene': 'CNOT1', 'score': 10.91}, {'connected_gene': 'POLR2C', 'score': 9.86}, {'connected_gene': 'ADGRG5', 'score': 2.22}, {'connected_gene': 'CFAP20', 'score': 1.62}, {'connected_gene': 'GC16P057639', 'score': 0.44}, {'connected_gene': 'GC16M057649', 'score': 0.44}]
chr16 GH16I056964 56964149 56966639 1.22 [{'connected_gene': 'RSPRY1', 'score': 98.79}, {'connected_gene': 'NLRC5', 'score': 39.87}, {'connected_gene': 'NUDT21', 'score': 24.9}, {'connected_gene': 'POLR2C', 'score': 18.23}, {'connected_gene': 'HERPUD1', 'score': 11.4}, {'connected_gene': 'LOC105371286', 'score': 10.83}, {'connected_gene': 'FAM192A', 'score': 10.2}, {'connected_gene': 'BBS2', 'score': 10.12}, {'connected_gene': 'CETP', 'score': 0.77}, {'connected_gene': 'GC16M056955', 'score': 0.77}, {'connected_gene': 'GC16M056973', 'score': 0.39}]
chr16 GH16I057409 57409285 57410691 0.71 [{'connected_gene': 'RSPRY1', 'score': 12.37}, {'connected_gene': 'CIAPIN1', 'score': 11.98}, {'connected_gene': 'POLR2C', 'score': 9.96}, {'connected_gene': 'DOK4', 'score': 6.69}, {'connected_gene': 'CCL17', 'score': 0.39}, {'connected_gene': 'GC16P057430', 'score': 0.37}]
chr16 GH16I057060 57060062 57062802 1.34 [{'connected_gene': 'RSPRY1', 'score': 23.38}, {'connected_gene': 'POLR2C', 'score': 12.48}, {'connected_gene': 'LOC105371286', 'score': 10.25}, {'connected_gene': 'NLRC5', 'score': 6.19}, {'connected_gene': 'CPNE2', 'score': 4.96}, {'connected_gene': 'ENSG00000261270', 'score': 4.42}, {'connected_gene': 'ENSG00000260145', 'score': 0.77}, {'connected_gene': 'ENSG00000260148', 'score': 0.29}]
chr16 GH16I057684 57683141 57683468 0.78 [{'connected_gene': 'RSPRY1', 'score': 21.15}, {'connected_gene': 'CNOT1', 'score': 18.9}, {'connected_gene': 'ADGRG1', 'score': 13.1}, {'connected_gene': 'KATNB1', 'score': 12.0}, {'connected_gene': 'POLR2C', 'score': 9.85}, {'connected_gene': 'ADGRG3', 'score': 3.96}, {'connected_gene': 'ZNF319', 'score': 3.12}, {'connected_gene': 'FAM192A', 'score': 1.86}, {'connected_gene': 'DRC7', 'score': 0.39}, {'connected_gene': 'ENSG00000260467', 'score': 0.37}]
chr16 GH16I057589 57589998 57594114 1.35 [{'connected_gene': 'RSPRY1', 'score': 42.96}, {'connected_gene': 'LOC101927556', 'score': 22.54}, {'connected_gene': 'POLR2C', 'score': 20.66}, {'connected_gene': 'ADGRG3', 'score': 12.5}, {'connected_gene': 'CCDC102A', 'score': 7.37}, {'connected_gene': 'GC16P057594', 'score': 0.77}, {'connected_gene': 'LOC105371291', 'score': 0.37}, {'connected_gene': 'GC16P057566', 'score': 0.31}, {'connected_gene': 'ADGRG5', 'score': 0.21}]
chr16 GH16I057049 57049863 57050623 0.74 [{'connected_gene': 'NLRC5', 'score': 15.58}, {'connected_gene': 'RSPRY1', 'score': 12.19}, {'connected_gene': 'HERPUD1', 'score': 10.43}, {'connected_gene': 'NUDT21', 'score': 10.14}, {'connected_gene': 'POLR2C', 'score': 10.09}, {'connected_gene': 'MIR138-2', 'score': 9.75}, {'connected_gene': 'GC16P057053', 'score': 0.77}, {'connected_gene': 'GC16P057038', 'score': 0.39}]
chr16 GH16I058460 58460027 58461578 0.71 [{'connected_gene': 'SETD6', 'score': 41.64}, {'connected_gene': 'CNOT1', 'score': 36.1}, {'connected_gene': 'LOC101927556', 'score': 22.47}, {'connected_gene': 'POLR2C', 'score': 18.95}, {'connected_gene': 'NDRG4', 'score': 5.04}, {'connected_gene': 'GC16M058446', 'score': 0.39}, {'connected_gene': 'LINC02137', 'score': 0.28}]
chr16 GH16I057357 57357523 57358570 0.74 [{'connected_gene': 'CCL22', 'score': 550.77}, {'connected_gene': 'CIAPIN1', 'score': 7.28}, {'connected_gene': 'POLR2C', 'score': 4.89}, {'connected_gene': 'PLLP', 'score': 4.71}, {'connected_gene': 'ENSG00000271456', 'score': 0.31}, {'connected_gene': 'GC16M057308', 'score': 0.29}]
chr16 GH16I057431 57431908 57433416 0.52 [{'connected_gene': 'CIAPIN1', 'score': 16.67}, {'connected_gene': 'DOK4', 'score': 11.85}, {'connected_gene': 'POLR2C', 'score': 11.48}, {'connected_gene': 'ARL2BP', 'score': 9.66}, {'connected_gene': 'GC16P057430', 'score': 0.77}, {'connected_gene': 'GC16P057442', 'score': 0.44}]
chr16 GH16I057469 57469669 57473767 0.9 [{'connected_gene': 'CIAPIN1', 'score': 16.62}, {'connected_gene': 'PIR51542', 'score': 0.77}, {'connected_gene': 'POLR2C', 'score': 0.44}, {'connected_gene': 'DOK4', 'score': 0.37}]
chr16 GH16I057416 57416107 57419785 1.18 [{'connected_gene': 'CIAPIN1', 'score': 15.43}, {'connected_gene': 'NUDT21', 'score': 12.22}, {'connected_gene': 'CX3CL1', 'score': 11.84}, {'connected_gene': 'CCL22', 'score': 11.81}, {'connected_gene': 'PLLP', 'score': 11.76}, {'connected_gene': 'POLR2C', 'score': 11.37}, {'connected_gene': 'ARL2BP', 'score': 10.87}, {'connected_gene': 'GC16P057430', 'score': 0.39}, {'connected_gene': 'CCL17', 'score': 0.34}]
chr16 GH16I057482 57482163 57487479 2.22 [{'connected_gene': 'DOK4', 'score': 563.38}, {'connected_gene': 'CIAPIN1', 'score': 21.15}, {'connected_gene': 'COQ9', 'score': 20.29}, {'connected_gene': 'LOC105371286', 'score': 13.11}, {'connected_gene': 'POLR2C', 'score': 12.07}, {'connected_gene': 'CX3CL1', 'score': 10.1}, {'connected_gene': 'CCL22', 'score': 10.09}, {'connected_gene': 'USB1', 'score': 6.55}, {'connected_gene': 'PIR51542', 'score': 0.37}]
chr16 GH16I057434 57434069 57434218 0.2 [{'connected_gene': 'DOK4', 'score': 11.85}, {'connected_gene': 'POLR2C', 'score': 11.84}, {'connected_gene': 'CX3CL1', 'score': 10.84}, {'connected_gene': 'CCL22', 'score': 10.81}, {'connected_gene': 'ARL2BP', 'score': 10.08}, {'connected_gene': 'GC16P057430', 'score': 0.77}, {'connected_gene': 'GC16P057442', 'score': 0.44}, {'connected_gene': 'CIAPIN1', 'score': 0.39}]
chr16 GH16I057506 57506809 57511126 0.8 [{'connected_gene': 'DOK4', 'score': 19.35}, {'connected_gene': 'POLR2C', 'score': 11.75}, {'connected_gene': 'CIAPIN1', 'score': 11.32}, {'connected_gene': 'COQ9', 'score': 11.32}, {'connected_gene': 'ADGRG1', 'score': 10.25}, {'connected_gene': 'CCDC102A', 'score': 7.22}, {'connected_gene': 'PIR46688', 'score': 0.39}, {'connected_gene': 'ADGRG5', 'score': 0.34}]
chr16 GH16I057462 57462009 57463777 2.06 [{'connected_gene': 'POLR2C', 'score': 550.77}, {'connected_gene': 'ENSG00000260345', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 17.11}, {'connected_gene': 'CIAPIN1', 'score': 16.63}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'NLRC5', 'score': 10.55}, {'connected_gene': 'DOK4', 'score': 7.62}, {'connected_gene': 'CCDC102A', 'score': 6.3}, {'connected_gene': 'PIR63065', 'score': 0.77}]
chr16 GH16I057281 57281864 57285201 2.39 [{'connected_gene': 'PLLP', 'score': 571.48}, {'connected_gene': 'LOC101927556', 'score': 18.25}, {'connected_gene': 'RSPRY1', 'score': 11.56}, {'connected_gene': 'POLR2C', 'score': 11.23}, {'connected_gene': 'FAM192A', 'score': 5.42}, {'connected_gene': 'ENSG00000260038', 'score': 0.28}]
chr16 GH16I056604 56604775 56615536 2.79 [{'connected_gene': 'MT2A', 'score': 553.69}, {'connected_gene': 'ENSG00000260823', 'score': 550.77}, {'connected_gene': 'GC16P056608', 'score': 550.77}, {'connected_gene': 'GC16P056609', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 24.6}, {'connected_gene': 'POLR2C', 'score': 19.13}, {'connected_gene': 'BBS2', 'score': 17.36}, {'connected_gene': 'MT1A', 'score': 15.36}, {'connected_gene': 'MT1F', 'score': 11.87}, {'connected_gene': 'MT1G', 'score': 11.53}, {'connected_gene': 'MT1H', 'score': 11.53}, {'connected_gene': 'MT3', 'score': 11.52}, {'connected_gene': 'MT1DP', 'score': 11.48}, {'connected_gene': 'MT1CP', 'score': 11.46}, {'connected_gene': 'MT1B', 'score': 11.3}, {'connected_gene': 'MT1X', 'score': 10.91}, {'connected_gene': 'NUP93', 'score': 10.64}, {'connected_gene': 'MIR138-2', 'score': 9.93}, {'connected_gene': 'MT1E', 'score': 9.44}, {'connected_gene': 'MT4', 'score': 8.48}, {'connected_gene': 'MT1L', 'score': 8.32}, {'connected_gene': 'DOK4', 'score': 5.44}, {'connected_gene': 'HMGB3P32', 'score': 4.98}, {'connected_gene': 'NLRC5', 'score': 4.83}, {'connected_gene': 'MT1M', 'score': 3.78}, {'connected_gene': 'HERPUD1', 'score': 2.48}]
chr16 GH16I057861 57861913 57864133 1.17 [{'connected_gene': 'KIFC3', 'score': 550.77}, {'connected_gene': 'CNOT1', 'score': 13.45}, {'connected_gene': 'RSPRY1', 'score': 12.1}, {'connected_gene': 'SETD6', 'score': 11.62}, {'connected_gene': 'POLR2C', 'score': 10.09}, {'connected_gene': 'GC16M057828', 'score': 0.31}]
chr16 GH16I058196 58196884 58198746 1.95 [{'connected_gene': 'CCDC113', 'score': 550.77}, {'connected_gene': 'ENSG00000260867', 'score': 550.77}, {'connected_gene': 'CSNK2A2', 'score': 550.77}, {'connected_gene': 'POLR2C', 'score': 20.56}, {'connected_gene': 'SETD6', 'score': 10.3}, {'connected_gene': 'CNOT1', 'score': 9.76}, {'connected_gene': 'CFAP20', 'score': 5.01}]
chr16 GH16I057297 57297051 57297723 0.43 [{'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.32}, {'connected_gene': 'CIAPIN1', 'score': 10.86}, {'connected_gene': 'COQ9', 'score': 10.86}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'MT1F', 'score': 5.21}, {'connected_gene': 'TRL-CAG2-1', 'score': 0.77}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16 GH16I057806 57806300 57813327 1.5 [{'connected_gene': 'CNOT1', 'score': 13.45}, {'connected_gene': 'RSPRY1', 'score': 12.1}, {'connected_gene': 'SETD6', 'score': 11.62}, {'connected_gene': 'CNGB1', 'score': 10.37}, {'connected_gene': 'POLR2C', 'score': 10.1}, {'connected_gene': 'KIFC3', 'score': 5.71}, {'connected_gene': 'LOC388282', 'score': 0.39}, {'connected_gene': 'GC16M057830', 'score': 0.34}, {'connected_gene': 'RNU6-20P', 'score': 0.34}]
chr16 GH16I058020 58020257 58021373 1.16 [{'connected_gene': 'CNOT1', 'score': 58.47}, {'connected_gene': 'RSPRY1', 'score': 43.75}, {'connected_gene': 'POLR2C', 'score': 29.21}, {'connected_gene': 'CSNK2A2', 'score': 21.71}, {'connected_gene': 'TEPP', 'score': 17.18}, {'connected_gene': 'CCDC102A', 'score': 14.02}, {'connected_gene': 'CNGB1', 'score': 10.94}, {'connected_gene': 'MMP15', 'score': 0.77}, {'connected_gene': 'ZNF319', 'score': 0.34}, {'connected_gene': 'USB1', 'score': 0.34}]
chr16 GH16I058331 58331105 58332005 0.65 [{'connected_gene': 'CNOT1', 'score': 13.48}, {'connected_gene': 'SETD6', 'score': 11.68}, {'connected_gene': 'PRSS54', 'score': 11.13}, {'connected_gene': 'GINS3', 'score': 10.71}, {'connected_gene': 'POLR2C', 'score': 10.07}, {'connected_gene': 'GC16P058353', 'score': 0.34}, {'connected_gene': 'GC16P058267', 'score': 0.21}]
chr16 GH16I058236 58236001 58237146 1.08 [{'connected_gene': 'CNOT1', 'score': 18.3}, {'connected_gene': 'CSNK2A2', 'score': 15.92}, {'connected_gene': 'POLR2C', 'score': 9.68}, {'connected_gene': 'LOC105371293', 'score': 0.39}, {'connected_gene': 'RN7SL645P', 'score': 0.28}, {'connected_gene': 'CCDC113', 'score': 0.28}]
chr16 GH16I057642 57642053 57644638 0.99 [{'connected_gene': 'CNOT1', 'score': 13.66}, {'connected_gene': 'KATNB1', 'score': 12.08}, {'connected_gene': 'RSPRY1', 'score': 11.37}, {'connected_gene': 'POLR2C', 'score': 10.59}, {'connected_gene': 'CNGB1', 'score': 9.19}, {'connected_gene': 'ADGRG1', 'score': 6.01}, {'connected_gene': 'GC16P057639', 'score': 0.77}, {'connected_gene': 'GC16M057649', 'score': 0.39}]
chr16 GH16I057132 57132022 57136616 1 [{'connected_gene': 'LOC105371289', 'score': 550.77}, {'connected_gene': 'FAM192A', 'score': 24.58}, {'connected_gene': 'NUDT21', 'score': 24.04}, {'connected_gene': 'RSPRY1', 'score': 22.5}, {'connected_gene': 'CPNE2', 'score': 13.29}, {'connected_gene': 'POLR2C', 'score': 10.56}, {'connected_gene': 'PLLP', 'score': 8.03}, {'connected_gene': 'GC16P057096', 'score': 0.28}]
chr16 GH16I058125 58125649 58130284 2.66 [{'connected_gene': 'LOC101927556', 'score': 572.4}, {'connected_gene': 'CFAP20', 'score': 564.32}, {'connected_gene': 'RSPRY1', 'score': 46.36}, {'connected_gene': 'CNOT1', 'score': 39.88}, {'connected_gene': 'POLR2C', 'score': 19.13}, {'connected_gene': 'CSNK2A2', 'score': 10.78}, {'connected_gene': 'CCL17', 'score': 4.88}, {'connected_gene': 'ENSG00000260545', 'score': 0.39}, {'connected_gene': 'GC16M058096', 'score': 0.34}]
chr16 GH16I057299 57297929 57298502 1 [{'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CCL22', 'score': 11.35}, {'connected_gene': 'CX3CL1', 'score': 11.33}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'POLR2C', 'score': 10.49}, {'connected_gene': 'PLLP', 'score': 0.39}]
chr16 GH16I057298 57298675 57301483 1.52 [{'connected_gene': 'TRL-CAG2-2', 'score': 550.77}, {'connected_gene': 'TRL-CAG2-1', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 26.99}, {'connected_gene': 'POLR2C', 'score': 22.24}, {'connected_gene': 'FAM192A', 'score': 14.45}, {'connected_gene': 'CSNK2A2', 'score': 12.03}, {'connected_gene': 'CCL22', 'score': 11.83}, {'connected_gene': 'CX3CL1', 'score': 11.8}, {'connected_gene': 'ARL2BP', 'score': 11.65}, {'connected_gene': 'CIAPIN1', 'score': 10.87}, {'connected_gene': 'COQ9', 'score': 10.87}, {'connected_gene': 'NUDT21', 'score': 10.59}, {'connected_gene': 'LOC101927556', 'score': 9.73}, {'connected_gene': 'PLLP', 'score': 6.74}, {'connected_gene': 'MT1F', 'score': 5.12}, {'connected_gene': 'GINS3', 'score': 4.98}]
chr16 GH16I058391 58391817 58393601 2.11 [{'connected_gene': 'ENSG00000276131', 'score': 550.77}, {'connected_gene': 'GINS3', 'score': 550.15}, {'connected_gene': 'CNOT1', 'score': 40.01}, {'connected_gene': 'SETD6', 'score': 10.37}, {'connected_gene': 'CCDC102A', 'score': 10.16}, {'connected_gene': 'POLR2C', 'score': 9.68}, {'connected_gene': 'LINC02137', 'score': 9.3}, {'connected_gene': 'RNU6-1110P', 'score': 0.44}]
chr16 GH16I057387 57387571 57388833 1.08 [{'connected_gene': 'GC16M057308', 'score': 550.77}, {'connected_gene': 'NUDT21', 'score': 24.01}, {'connected_gene': 'RSPRY1', 'score': 23.16}, {'connected_gene': 'LOC105371286', 'score': 22.41}, {'connected_gene': 'CCL22', 'score': 13.33}, {'connected_gene': 'LOC101927556', 'score': 13.2}, {'connected_gene': 'CIAPIN1', 'score': 11.77}, {'connected_gene': 'POLR2C', 'score': 10.01}, {'connected_gene': 'CFAP20', 'score': 9.93}, {'connected_gene': 'CCL17', 'score': 3.5}, {'connected_gene': 'CX3CL1', 'score': 0.37}]

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