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
ENST00000299565 [[78857861, 78858167], [78873152, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882978], [78885433, 78887611]] [[78858061, 78858167], [78873152, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882978], [78885433, 78885595]]
ENST00000559554 [[78857912, 78858167], [78873152, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882191], [78885433, 78885877]] [[78858061, 78858167], [78873152, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882191], [78885433, 78885458]]
ENST00000394802 [[78873231, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882440], [78885433, 78885616]] [[78873231, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882440], [78885433, 78885458]]
ENST00000559576 [[78882703, 78882848], [78885433, 78886043]] [[78882703, 78882848], [78885433, 78885458]]
NM_001307945 [[78857861, 78858167], [78873152, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882191], [78885433, 78887611]] [[78858061, 78858167], [78873152, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882191], [78885433, 78885458]]
NM_000745 [[78857861, 78858167], [78873152, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882978], [78885433, 78887611]] [[78858061, 78858167], [78873152, 78873304], [78878986, 78879031], [78880655, 78880765], [78882146, 78882978], [78885433, 78885595]]
Promoter
Chrom Start End Description
chr15 78857836 78857847 CAGE_peak_3_at_CHRNA5_5end
chr15 78857849 78857869 CAGE_peak_2_at_CHRNA5_5end
chr15 78857870 78857897 CAGE_peak_1_at_CHRNA5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I078759 78759435 78762399 1.09 [{'connected_gene': 'LOC646934', 'score': 14.61}, {'connected_gene': 'ADAMTS7P3', 'score': 14.4}, {'connected_gene': 'CHRNA5', 'score': 12.85}, {'connected_gene': 'CTSH', 'score': 5.52}, {'connected_gene': 'CHRNA3', 'score': 5.4}, {'connected_gene': 'WDR61', 'score': 4.88}, {'connected_gene': 'LOC105370914', 'score': 0.77}, {'connected_gene': 'MORF4L1', 'score': 0.25}, {'connected_gene': 'ADAMTS7', 'score': 0.23}]
chr15 GH15I078991 78991575 78997419 1.36 [{'connected_gene': 'RASGRF1', 'score': 7.67}, {'connected_gene': 'CHRNA5', 'score': 4.77}, {'connected_gene': 'LOC105370917', 'score': 0.77}, {'connected_gene': 'GC15M078980', 'score': 0.39}]
chr15 GH15I078539 78539505 78542505 2.03 [{'connected_gene': 'PSMA4', 'score': 564.77}, {'connected_gene': 'CHRNA5', 'score': 83.13}, {'connected_gene': 'HYKK', 'score': 12.3}, {'connected_gene': 'IREB2', 'score': 6.07}, {'connected_gene': 'GC15M078021', 'score': 0.1}]
chr15 GH15I078709 78709310 78709899 0.99 [{'connected_gene': 'ADAMTS7P3', 'score': 12.54}, {'connected_gene': 'CHRNA5', 'score': 10.51}, {'connected_gene': 'WDR61', 'score': 9.66}, {'connected_gene': 'GC15M078021', 'score': 0.44}, {'connected_gene': 'LOC105370913', 'score': 0.37}, {'connected_gene': 'CHRNB4', 'score': 0.37}, {'connected_gene': 'LOC646934', 'score': 0.25}]
chr15 GH15I078315 78315392 78317578 0.92 [{'connected_gene': 'IREB2', 'score': 32.08}, {'connected_gene': 'ENSG00000259562', 'score': 32.05}, {'connected_gene': 'WDR61', 'score': 22.65}, {'connected_gene': 'ENSG00000260988', 'score': 21.07}, {'connected_gene': 'CRABP1', 'score': 12.44}, {'connected_gene': 'ACSBG1', 'score': 10.18}, {'connected_gene': 'ENSG00000259322', 'score': 10.12}, {'connected_gene': 'HYKK', 'score': 9.79}, {'connected_gene': 'CHRNA5', 'score': 9.57}, {'connected_gene': 'DNAJA4', 'score': 8.93}, {'connected_gene': 'GC15P078331', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078464 78464823 78466534 0.2 [{'connected_gene': 'IREB2', 'score': 28.05}, {'connected_gene': 'HYKK', 'score': 11.72}, {'connected_gene': 'WDR61', 'score': 11.08}, {'connected_gene': 'CHRNA5', 'score': 10.62}, {'connected_gene': 'PSMA4', 'score': 9.4}, {'connected_gene': 'ENSG00000259474', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078436 78436676 78440861 2.29 [{'connected_gene': 'IREB2', 'score': 572.3}, {'connected_gene': 'CHRNA5', 'score': 33.72}, {'connected_gene': 'TBC1D2B', 'score': 13.28}, {'connected_gene': 'ENSG00000260988', 'score': 11.55}, {'connected_gene': 'WDR61', 'score': 11.37}, {'connected_gene': 'ENSG00000259792', 'score': 10.57}, {'connected_gene': 'PSMA4', 'score': 9.31}, {'connected_gene': 'ENSG00000259474', 'score': 0.26}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078640 78640800 78642676 1.8 [{'connected_gene': 'CHRNB4', 'score': 550.17}, {'connected_gene': 'CHRNA5', 'score': 14.64}, {'connected_gene': 'IREB2', 'score': 14.04}, {'connected_gene': 'ENSG00000259562', 'score': 11.66}, {'connected_gene': 'PSMA4', 'score': 11.09}, {'connected_gene': 'TBC1D2B', 'score': 10.27}, {'connected_gene': 'ENSG00000261762', 'score': 6.81}, {'connected_gene': 'PIR44812', 'score': 0.39}, {'connected_gene': 'LOC646934', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.22}]
chr15 GH15I078564 78564707 78566946 1.93 [{'connected_gene': 'CHRNA5', 'score': 598.59}, {'connected_gene': 'PSMA4', 'score': 13.84}, {'connected_gene': 'IREB2', 'score': 13.14}, {'connected_gene': 'TBC1D2B', 'score': 10.96}, {'connected_gene': 'HYKK', 'score': 10.75}, {'connected_gene': 'MORF4L1', 'score': 9.42}, {'connected_gene': 'ADAMTS7', 'score': 9.41}, {'connected_gene': 'CRABP1', 'score': 9.36}, {'connected_gene': 'RASGRF1', 'score': 4.7}, {'connected_gene': 'ENSG00000261762', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.12}]
chr15 GH15I078460 78460972 78462348 1 [{'connected_gene': 'CHRNA5', 'score': 43.9}, {'connected_gene': 'IREB2', 'score': 21.22}, {'connected_gene': 'WDR61', 'score': 11.07}, {'connected_gene': 'CRABP1', 'score': 10.27}, {'connected_gene': 'ACSBG1', 'score': 1.9}, {'connected_gene': 'ENSG00000259474', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078447 78447512 78451094 1.19 [{'connected_gene': 'CHRNA5', 'score': 33.71}, {'connected_gene': 'CRABP1', 'score': 10.19}, {'connected_gene': 'PSMA4', 'score': 9.2}, {'connected_gene': 'IREB2', 'score': 0.39}, {'connected_gene': 'ENSG00000259474', 'score': 0.29}, {'connected_gene': 'GC15M078021', 'score': 0.07}]
chr15 GH15I078671 78671239 78672483 0.66 [{'connected_gene': 'CHRNA5', 'score': 16.31}, {'connected_gene': 'CRABP1', 'score': 9.54}, {'connected_gene': 'CHRNB4', 'score': 6.58}, {'connected_gene': 'GC15M078668', 'score': 0.77}, {'connected_gene': 'LOC646934', 'score': 0.39}, {'connected_gene': 'RPL18P11', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.31}]
chr15 GH15I078720 78720001 78720400 0.86 [{'connected_gene': 'CHRNA5', 'score': 15.11}, {'connected_gene': 'ADAMTS7', 'score': 11.07}, {'connected_gene': 'MORF4L1', 'score': 11.07}, {'connected_gene': 'ADAMTS7P3', 'score': 8.14}, {'connected_gene': 'LOC105370913', 'score': 0.44}, {'connected_gene': 'CHRNB4', 'score': 0.44}, {'connected_gene': 'GC15M078021', 'score': 0.34}, {'connected_gene': 'LOC646934', 'score': 0.22}]
chr15 GH15I078803 78803939 78805139 0.63 [{'connected_gene': 'CHRNA5', 'score': 8.09}, {'connected_gene': 'ADAMTS7', 'score': 0.44}, {'connected_gene': 'MORF4L1', 'score': 0.44}, {'connected_gene': 'LOC105370914', 'score': 0.25}]
chr15 GH15I078620 78620986 78621045 0.79 [{'connected_gene': 'CHRNA3', 'score': 550.77}, {'connected_gene': 'CHRNA5', 'score': 10.91}, {'connected_gene': 'GC15P078618', 'score': 0.77}, {'connected_gene': 'GC15M078021', 'score': 0.18}]
chr15 GH15I078619 78619092 78620566 0.76 [{'connected_gene': 'CHRNA3', 'score': 550.77}, {'connected_gene': 'GC15P078618', 'score': 550.77}, {'connected_gene': 'CHRNA5', 'score': 55.38}, {'connected_gene': 'GC15M078021', 'score': 0.18}]
chr15 GH15I078909 78909859 78910528 0.94 [{'connected_gene': 'MORF4L1', 'score': 7.69}, {'connected_gene': 'CHRNA5', 'score': 6.1}, {'connected_gene': 'ENSG00000279235', 'score': 0.77}, {'connected_gene': 'CTSH', 'score': 0.28}]
chr15 GH15I078754 78754331 78759028 1.45 [{'connected_gene': 'LOC105370914', 'score': 550.77}, {'connected_gene': 'LOC646934', 'score': 14.21}, {'connected_gene': 'ADAMTS7P3', 'score': 11.97}, {'connected_gene': 'CHRNA5', 'score': 10.81}, {'connected_gene': 'CTSH', 'score': 4.86}, {'connected_gene': 'PIR36295', 'score': 0.77}, {'connected_gene': 'PIR58582', 'score': 0.77}]
chr15 GH15I078750 78750309 78751768 1.25 [{'connected_gene': 'PIR31454', 'score': 550.77}, {'connected_gene': 'LOC646938', 'score': 550.77}, {'connected_gene': 'ENSG00000273512', 'score': 550.77}, {'connected_gene': 'LOC646934', 'score': 15.83}, {'connected_gene': 'CHRNA5', 'score': 13.4}, {'connected_gene': 'ADAMTS7P3', 'score': 11.97}]
chr15 GH15I078737 78737835 78738803 0.86 [{'connected_gene': 'PIR57186', 'score': 550.77}, {'connected_gene': 'GC15P078739', 'score': 550.77}, {'connected_gene': 'PIR39383', 'score': 550.77}, {'connected_gene': 'LOC646934', 'score': 16.69}, {'connected_gene': 'CHRNA5', 'score': 14.32}, {'connected_gene': 'ADAMTS7P3', 'score': 11.54}, {'connected_gene': 'CTSH', 'score': 4.91}, {'connected_gene': 'DNM1P37', 'score': 0.77}]
chr15 GH15I078714 78714595 78716783 0.72 [{'connected_gene': 'ENSG00000259562', 'score': 24.59}, {'connected_gene': 'LOC646934', 'score': 18.71}, {'connected_gene': 'CHRNA5', 'score': 14.74}, {'connected_gene': 'IREB2', 'score': 12.9}, {'connected_gene': 'MORF4L1', 'score': 11.07}, {'connected_gene': 'ADAMTS7', 'score': 11.07}, {'connected_gene': 'WDR61', 'score': 10.67}, {'connected_gene': 'TBC1D2B', 'score': 10.58}, {'connected_gene': 'ENSG00000260988', 'score': 10.38}, {'connected_gene': 'CTSH', 'score': 4.78}, {'connected_gene': 'LOC105370913', 'score': 0.39}, {'connected_gene': 'CHRNB4', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.37}]
chr15 GH15I078417 78417922 78420045 0.82 [{'connected_gene': 'ENSG00000259562', 'score': 70.62}, {'connected_gene': 'IREB2', 'score': 49.74}, {'connected_gene': 'TBC1D2B', 'score': 33.09}, {'connected_gene': 'WDR61', 'score': 20.99}, {'connected_gene': 'ENSG00000259322', 'score': 11.81}, {'connected_gene': 'CRABP1', 'score': 11.68}, {'connected_gene': 'CHRNA5', 'score': 11.32}, {'connected_gene': 'HMG20A', 'score': 9.73}, {'connected_gene': 'PSMA4', 'score': 7.03}, {'connected_gene': 'ENSG00000259413', 'score': 0.28}, {'connected_gene': 'RWDD1P1', 'score': 0.28}, {'connected_gene': 'GC15M078021', 'score': 0.06}]