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
ENST00000497986 [[28562619, 28562781], [28562871, 28562963], [28564271, 28564616]] [[28562694, 28562781], [28562871, 28562963], [28564271, 28564308]]
ENST00000335514 [[28562643, 28562781], [28562871, 28562963], [28564347, 28564611]] [[28562694, 28562781], [28562871, 28562963], [28564347, 28564489]]
ENST00000468425 [[28562652, 28562781], [28562871, 28562963], [28573099, 28573417]] [[28562694, 28562781], [28562871, 28562963], [28573099, 28573148]]
ENST00000465645 [[28562664, 28562781], [28562871, 28564609]] [[28562694, 28562781], [28562871, 28562967]]
Promoter
Chrom Start End Description
chr1 28562601 28562610 CAGE_peak_2_at_ATPIF1_5end
chr1 28562617 28562681 CAGE_peak_1_at_ATPIF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I027816 27816627 27818413 1.04 [{'connected_gene': 'ATP5IF1', 'score': 4.77}, {'connected_gene': 'TRNP1', 'score': 4.41}, {'connected_gene': 'ENSG00000270031', 'score': 0.77}, {'connected_gene': 'STX12', 'score': 0.26}, {'connected_gene': 'ENSG00000269971', 'score': 0.26}]
chr1 GH01I028258 28258097 28261839 2.29 [{'connected_gene': 'SESN2', 'score': 550.77}, {'connected_gene': 'SRSF4', 'score': 52.3}, {'connected_gene': 'SNHG12', 'score': 44.99}, {'connected_gene': 'TRNAU1AP', 'score': 38.87}, {'connected_gene': 'GMEB1', 'score': 38.66}, {'connected_gene': 'YTHDF2', 'score': 33.89}, {'connected_gene': 'PHACTR4', 'score': 30.71}, {'connected_gene': 'DNAJC8', 'score': 29.52}, {'connected_gene': 'ACTG1P20', 'score': 25.22}, {'connected_gene': 'ENSG00000270605', 'score': 24.11}, {'connected_gene': 'MAP3K6', 'score': 23.27}, {'connected_gene': 'FAM76A', 'score': 21.37}, {'connected_gene': 'SNORA73B', 'score': 20.91}, {'connected_gene': 'PPP1R8', 'score': 20.09}, {'connected_gene': 'EYA3', 'score': 19.95}, {'connected_gene': 'RCC1', 'score': 17.98}, {'connected_gene': 'AHDC1', 'score': 13.39}, {'connected_gene': 'SNHG3', 'score': 12.47}, {'connected_gene': 'ENSG00000231344', 'score': 11.4}, {'connected_gene': 'ENSG00000237934', 'score': 11.03}, {'connected_gene': 'ATP5IF1', 'score': 11.03}, {'connected_gene': 'WASF2', 'score': 10.4}, {'connected_gene': 'TMEM200B', 'score': 9.85}, {'connected_gene': 'TMEM222', 'score': 9.82}, {'connected_gene': 'PTAFR', 'score': 6.12}, {'connected_gene': 'RPA2', 'score': 5.36}, {'connected_gene': 'MED18', 'score': 0.2}]
chr1 GH01I028290 28290124 28291807 1.18 [{'connected_gene': 'PHACTR4', 'score': 7.03}, {'connected_gene': 'SESN2', 'score': 4.89}, {'connected_gene': 'ATP5IF1', 'score': 1.71}, {'connected_gene': 'MED18', 'score': 0.28}]
chr1 GH01I028343 28343510 28344159 0.46 [{'connected_gene': 'PHACTR4', 'score': 18.73}, {'connected_gene': 'SESN2', 'score': 11.66}, {'connected_gene': 'ATP5IF1', 'score': 10.32}, {'connected_gene': 'DNAJC8', 'score': 10.31}, {'connected_gene': 'TRNAU1AP', 'score': 9.86}, {'connected_gene': 'EYA3', 'score': 9.31}, {'connected_gene': 'SCARNA1', 'score': 8.76}, {'connected_gene': 'PPP1R8', 'score': 8.52}, {'connected_gene': 'RNU6-1245P', 'score': 8.52}, {'connected_gene': 'MED18', 'score': 0.39}]
chr1 GH01I028341 28341690 28341899 0.49 [{'connected_gene': 'PHACTR4', 'score': 17.6}, {'connected_gene': 'SESN2', 'score': 11.06}, {'connected_gene': 'SNORD99', 'score': 10.53}, {'connected_gene': 'RAB42', 'score': 10.52}, {'connected_gene': 'DNAJC8', 'score': 10.51}, {'connected_gene': 'ATP5IF1', 'score': 10.51}, {'connected_gene': 'PTAFR', 'score': 10.08}, {'connected_gene': 'MED18', 'score': 0.39}]
chr1 GH01I028280 28280822 28283705 0.82 [{'connected_gene': 'PHACTR4', 'score': 16.06}, {'connected_gene': 'MED18', 'score': 12.6}, {'connected_gene': 'DNAJC8', 'score': 10.57}, {'connected_gene': 'ATP5IF1', 'score': 10.57}, {'connected_gene': 'SCARNA1', 'score': 9.24}, {'connected_gene': 'PTAFR', 'score': 5.96}, {'connected_gene': 'SESN2', 'score': 4.75}, {'connected_gene': 'THEMIS2', 'score': 4.74}]
chr1 GH01I027685 27685127 27691077 1.22 [{'connected_gene': 'CHMP1AP1', 'score': 550.77}, {'connected_gene': 'FAM76A', 'score': 11.85}, {'connected_gene': 'STX12', 'score': 11.18}, {'connected_gene': 'RNU6-1245P', 'score': 10.78}, {'connected_gene': 'SCARNA1', 'score': 10.77}, {'connected_gene': 'PPP1R8', 'score': 10.77}, {'connected_gene': 'ACTG1P20', 'score': 10.01}, {'connected_gene': 'RNU6-48P', 'score': 10.01}, {'connected_gene': 'TMEM222', 'score': 10.01}, {'connected_gene': 'ENSG00000270605', 'score': 5.4}, {'connected_gene': 'PTAFR', 'score': 4.3}, {'connected_gene': 'ATP5IF1', 'score': 3.88}, {'connected_gene': 'RNU6-424P', 'score': 0.44}, {'connected_gene': 'ENSG00000225886', 'score': 0.37}]
chr1 GH01I028152 28152951 28155201 1.58 [{'connected_gene': 'PTAFR', 'score': 24.63}, {'connected_gene': 'XKR8', 'score': 17.23}, {'connected_gene': 'THEMIS2', 'score': 15.1}, {'connected_gene': 'EYA3', 'score': 14.58}, {'connected_gene': 'DNAJC8', 'score': 10.67}, {'connected_gene': 'ATP5IF1', 'score': 10.66}, {'connected_gene': 'SESN2', 'score': 5.16}, {'connected_gene': 'MED18', 'score': 3.19}, {'connected_gene': 'STX12', 'score': 2.44}, {'connected_gene': 'PIR61473', 'score': 0.44}]
chr1 GH01I028122 28122801 28124459 1.32 [{'connected_gene': 'PTAFR', 'score': 33.95}, {'connected_gene': 'EYA3', 'score': 24.73}, {'connected_gene': 'DNAJC8', 'score': 21.0}, {'connected_gene': 'FGR', 'score': 13.33}, {'connected_gene': 'ATP5IF1', 'score': 10.39}, {'connected_gene': 'PHACTR4', 'score': 9.73}, {'connected_gene': 'SESN2', 'score': 9.17}, {'connected_gene': 'THEMIS2', 'score': 9.16}, {'connected_gene': 'SCARNA1', 'score': 8.98}, {'connected_gene': 'RNU6-1245P', 'score': 8.97}, {'connected_gene': 'PPP1R8', 'score': 8.97}, {'connected_gene': 'STX12', 'score': 5.26}, {'connected_gene': 'MAP3K6', 'score': 4.63}, {'connected_gene': 'MED18', 'score': 3.91}, {'connected_gene': 'XKR8', 'score': 2.38}, {'connected_gene': 'LOC100131223', 'score': 0.77}, {'connected_gene': 'RNU6-176P', 'score': 0.37}]
chr1 GH01I028125 28125401 28129859 1.48 [{'connected_gene': 'PTAFR', 'score': 25.41}, {'connected_gene': 'EYA3', 'score': 21.07}, {'connected_gene': 'DNAJC8', 'score': 12.45}, {'connected_gene': 'FGR', 'score': 11.23}, {'connected_gene': 'ATP5IF1', 'score': 11.06}, {'connected_gene': 'PPP1R8', 'score': 9.17}, {'connected_gene': 'SCARNA1', 'score': 9.17}, {'connected_gene': 'RNU6-1245P', 'score': 9.16}, {'connected_gene': 'THEMIS2', 'score': 7.05}, {'connected_gene': 'SESN2', 'score': 5.7}, {'connected_gene': 'STX12', 'score': 4.32}, {'connected_gene': 'MED18', 'score': 2.8}, {'connected_gene': 'XKR8', 'score': 1.32}, {'connected_gene': 'LOC100131223', 'score': 0.44}, {'connected_gene': 'RNU6-176P', 'score': 0.37}]
chr1 GH01I028104 28104707 28105859 1.29 [{'connected_gene': 'PTAFR', 'score': 14.95}, {'connected_gene': 'RNU6-176P', 'score': 12.8}, {'connected_gene': 'RNU7-29P', 'score': 12.8}, {'connected_gene': 'DNAJC8', 'score': 10.77}, {'connected_gene': 'ATP5IF1', 'score': 10.76}, {'connected_gene': 'RNU6-1245P', 'score': 9.96}, {'connected_gene': 'PPP1R8', 'score': 9.96}, {'connected_gene': 'SCARNA1', 'score': 9.96}, {'connected_gene': 'STX12', 'score': 2.17}, {'connected_gene': 'FGR', 'score': 2.16}, {'connected_gene': 'EYA3', 'score': 2.0}, {'connected_gene': 'SESN2', 'score': 1.73}, {'connected_gene': 'THEMIS2', 'score': 1.36}, {'connected_gene': 'ENSG00000228943', 'score': 0.77}, {'connected_gene': 'SPCS2P4', 'score': 0.44}]
chr1 GH01I028301 28301950 28302099 0.66 [{'connected_gene': 'MED18', 'score': 12.96}, {'connected_gene': 'SESN2', 'score': 12.07}, {'connected_gene': 'DNAJC8', 'score': 10.68}, {'connected_gene': 'ATP5IF1', 'score': 10.68}]
chr1 GH01I028306 28306375 28306883 0.58 [{'connected_gene': 'MED18', 'score': 12.99}, {'connected_gene': 'SESN2', 'score': 12.05}, {'connected_gene': 'RCC1', 'score': 10.93}, {'connected_gene': 'SNHG3', 'score': 10.93}, {'connected_gene': 'SNORA73B', 'score': 10.93}, {'connected_gene': 'PRDX3P2', 'score': 10.92}, {'connected_gene': 'PTAFR', 'score': 10.76}, {'connected_gene': 'DNAJC8', 'score': 10.67}, {'connected_gene': 'ATP5IF1', 'score': 10.67}]
chr1 GH01I028266 28266844 28267536 1.12 [{'connected_gene': 'MED18', 'score': 12.76}, {'connected_gene': 'DNAJC8', 'score': 11.04}, {'connected_gene': 'ATP5IF1', 'score': 11.04}, {'connected_gene': 'PHACTR4', 'score': 10.64}, {'connected_gene': 'SESN2', 'score': 0.44}]
chr1 GH01I027906 27906381 27908142 0.46 [{'connected_gene': 'SMPDL3B', 'score': 22.8}, {'connected_gene': 'THEMIS2', 'score': 12.12}, {'connected_gene': 'RPA2', 'score': 11.66}, {'connected_gene': 'SCARNA1', 'score': 10.55}, {'connected_gene': 'PPP1R8', 'score': 10.54}, {'connected_gene': 'RNU6-1245P', 'score': 10.54}, {'connected_gene': 'DNAJC8', 'score': 10.39}, {'connected_gene': 'ATP5IF1', 'score': 10.39}, {'connected_gene': 'GC01M027883', 'score': 0.34}]
chr1 GH01I027904 27904201 27905105 0.99 [{'connected_gene': 'SMPDL3B', 'score': 28.09}, {'connected_gene': 'THEMIS2', 'score': 12.12}, {'connected_gene': 'PPP1R8', 'score': 10.55}, {'connected_gene': 'SCARNA1', 'score': 10.55}, {'connected_gene': 'RNU6-1245P', 'score': 10.54}, {'connected_gene': 'ATP5IF1', 'score': 10.39}, {'connected_gene': 'DNAJC8', 'score': 10.39}, {'connected_gene': 'RPA2', 'score': 0.39}, {'connected_gene': 'GC01M027883', 'score': 0.34}]
chr1 GH01I028208 28208970 28209139 0.72 [{'connected_gene': 'DNAJC8', 'score': 12.79}, {'connected_gene': 'ATP5IF1', 'score': 12.76}, {'connected_gene': 'EYA3', 'score': 11.52}, {'connected_gene': 'RNU7-29P', 'score': 11.05}, {'connected_gene': 'RNU6-176P', 'score': 11.05}, {'connected_gene': 'SCARNA1', 'score': 10.07}, {'connected_gene': 'PPP1R8', 'score': 10.07}, {'connected_gene': 'RNU6-1245P', 'score': 10.07}, {'connected_gene': 'SESN2', 'score': 10.04}, {'connected_gene': 'PTAFR', 'score': 0.37}]
chr1 GH01I027991 27991307 27994384 0.87 [{'connected_gene': 'EYA3', 'score': 39.27}, {'connected_gene': 'SMPDL3B', 'score': 11.63}, {'connected_gene': 'RPA2', 'score': 11.38}, {'connected_gene': 'SCARNA1', 'score': 10.71}, {'connected_gene': 'RNU6-1245P', 'score': 10.69}, {'connected_gene': 'PPP1R8', 'score': 10.69}, {'connected_gene': 'DNAJC8', 'score': 10.66}, {'connected_gene': 'ATP5IF1', 'score': 10.66}, {'connected_gene': 'PTAFR', 'score': 10.58}, {'connected_gene': 'RNU6-176P', 'score': 10.29}, {'connected_gene': 'RNU7-29P', 'score': 10.28}, {'connected_gene': 'FAM76A', 'score': 3.77}, {'connected_gene': 'ENSG00000238231', 'score': 0.77}, {'connected_gene': 'GC01M028003', 'score': 0.44}]
chr1 GH01I027777 27777148 27779509 0.54 [{'connected_gene': 'RNU6-1245P', 'score': 11.69}, {'connected_gene': 'PPP1R8', 'score': 11.68}, {'connected_gene': 'SCARNA1', 'score': 11.67}, {'connected_gene': 'FAM76A', 'score': 11.6}, {'connected_gene': 'STX12', 'score': 7.58}, {'connected_gene': 'SESN2', 'score': 4.65}, {'connected_gene': 'TRNAU1AP', 'score': 4.55}, {'connected_gene': 'ATP5IF1', 'score': 3.9}, {'connected_gene': 'ENSG00000269971', 'score': 0.77}, {'connected_gene': 'ENSG00000270031', 'score': 0.26}]
chr1 GH01I028123 28122201 28122401 0.4 [{'connected_gene': 'LOC100131223', 'score': 550.77}, {'connected_gene': 'PTAFR', 'score': 11.87}, {'connected_gene': 'EYA3', 'score': 11.13}, {'connected_gene': 'DNAJC8', 'score': 10.39}, {'connected_gene': 'ATP5IF1', 'score': 10.39}, {'connected_gene': 'SCARNA1', 'score': 8.98}, {'connected_gene': 'RNU6-1245P', 'score': 8.97}, {'connected_gene': 'PPP1R8', 'score': 8.97}, {'connected_gene': 'RNU6-176P', 'score': 0.34}]
chr1 GH01I028162 28162876 28164200 0.78 [{'connected_gene': 'ENSG00000270605', 'score': 19.24}, {'connected_gene': 'ATP5IF1', 'score': 15.09}, {'connected_gene': 'PTAFR', 'score': 13.23}, {'connected_gene': 'RNU6-176P', 'score': 12.87}, {'connected_gene': 'EYA3', 'score': 11.19}, {'connected_gene': 'DNAJC8', 'score': 10.69}, {'connected_gene': 'PIR61473', 'score': 0.37}]
chr1 GH01I028235 28235050 28238084 2.3 [{'connected_gene': 'PIR45679', 'score': 550.77}, {'connected_gene': 'ATP5IF1', 'score': 550.77}, {'connected_gene': 'ENSG00000270605', 'score': 81.07}, {'connected_gene': 'YTHDF2', 'score': 21.29}, {'connected_gene': 'GMEB1', 'score': 19.73}, {'connected_gene': 'ACTG1P20', 'score': 15.47}, {'connected_gene': 'SRSF4', 'score': 11.1}, {'connected_gene': 'RCC1', 'score': 10.88}, {'connected_gene': 'ENSG00000237934', 'score': 10.78}, {'connected_gene': 'FAM76A', 'score': 10.32}, {'connected_gene': 'AHDC1', 'score': 10.18}, {'connected_gene': 'TRNAU1AP', 'score': 9.75}]
chr1 GH01I028295 28295533 28298225 1.4 [{'connected_gene': 'ENSG00000270605', 'score': 19.72}, {'connected_gene': 'SESN2', 'score': 19.11}, {'connected_gene': 'MED18', 'score': 12.95}, {'connected_gene': 'PHACTR4', 'score': 11.31}, {'connected_gene': 'PTAFR', 'score': 10.77}, {'connected_gene': 'DNAJC8', 'score': 10.69}, {'connected_gene': 'ATP5IF1', 'score': 10.69}]
chr1 GH01I028241 28241475 28242489 0.66 [{'connected_gene': 'ENSG00000270605', 'score': 631.05}, {'connected_gene': 'PHACTR4', 'score': 11.14}, {'connected_gene': 'EYA3', 'score': 10.25}, {'connected_gene': 'ENSG00000271398', 'score': 0.44}, {'connected_gene': 'ATP5IF1', 'score': 0.44}]
chr1 GH01I028242 28242729 28250500 2.27 [{'connected_gene': 'ENSG00000271398', 'score': 550.77}, {'connected_gene': 'ENSG00000270605', 'score': 80.77}, {'connected_gene': 'SRSF4', 'score': 39.34}, {'connected_gene': 'GMEB1', 'score': 33.01}, {'connected_gene': 'SNHG12', 'score': 27.56}, {'connected_gene': 'PTAFR', 'score': 25.56}, {'connected_gene': 'ACTG1P20', 'score': 25.51}, {'connected_gene': 'YTHDF2', 'score': 24.94}, {'connected_gene': 'TRNAU1AP', 'score': 23.78}, {'connected_gene': 'PHACTR4', 'score': 23.28}, {'connected_gene': 'EYA3', 'score': 21.77}, {'connected_gene': 'ENSG00000231344', 'score': 18.28}, {'connected_gene': 'RCC1', 'score': 12.09}, {'connected_gene': 'SESN2', 'score': 11.28}, {'connected_gene': 'SNORA73B', 'score': 11.16}, {'connected_gene': 'FAM76A', 'score': 10.35}, {'connected_gene': 'SNHG3', 'score': 10.24}, {'connected_gene': 'RNU7-29P', 'score': 10.06}, {'connected_gene': 'RNU6-176P', 'score': 10.06}, {'connected_gene': 'ENSG00000237934', 'score': 10.04}, {'connected_gene': 'ATP5IF1', 'score': 4.39}, {'connected_gene': 'MED18', 'score': 3.99}, {'connected_gene': 'THEMIS2', 'score': 1.46}, {'connected_gene': 'STX12', 'score': 1.17}]
chr1 GH01I028278 28278601 28279587 0.78 [{'connected_gene': 'ENSG00000270605', 'score': 20.95}, {'connected_gene': 'MED18', 'score': 12.6}, {'connected_gene': 'PHACTR4', 'score': 11.86}, {'connected_gene': 'ATP5IF1', 'score': 10.91}, {'connected_gene': 'DNAJC8', 'score': 10.89}, {'connected_gene': 'TRNAU1AP', 'score': 9.57}, {'connected_gene': 'SCARNA1', 'score': 9.23}, {'connected_gene': 'SESN2', 'score': 0.37}]
chr1 GH01I028255 28255935 28257010 0.82 [{'connected_gene': 'ENSG00000270605', 'score': 30.03}, {'connected_gene': 'DNAJC8', 'score': 11.03}, {'connected_gene': 'ATP5IF1', 'score': 11.03}, {'connected_gene': 'PHACTR4', 'score': 10.87}, {'connected_gene': 'EYA3', 'score': 9.84}, {'connected_gene': 'SESN2', 'score': 0.77}, {'connected_gene': 'ENSG00000271398', 'score': 0.44}]
chr1 GH01I028063 28063727 28067338 1.14 [{'connected_gene': 'GC01M028064', 'score': 550.77}, {'connected_gene': 'EYA3', 'score': 46.54}, {'connected_gene': 'GMEB1', 'score': 14.19}, {'connected_gene': 'PTAFR', 'score': 11.16}, {'connected_gene': 'RNU6-176P', 'score': 11.15}, {'connected_gene': 'RNU7-29P', 'score': 11.15}, {'connected_gene': 'DNAJC8', 'score': 10.67}, {'connected_gene': 'ATP5IF1', 'score': 10.66}, {'connected_gene': 'SMPDL3B', 'score': 5.94}, {'connected_gene': 'GC01M028089', 'score': 0.34}, {'connected_gene': 'GC01M028088', 'score': 0.34}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.