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
ENST00000367070 [[207277606, 207277775], [207286345, 207286512], [207287444, 207287630], [207288760, 207288860], [207297266, 207297352], [207297519, 207297711], [207300057, 207300240], [207304890, 207305085], [207307748, 207307937], [207314450, 207314621], [207317162, 207317338], [207317888, 207318317]] [[207286370, 207286512], [207287444, 207287630], [207288760, 207288860], [207297266, 207297352], [207297519, 207297711], [207300057, 207300240], [207304890, 207305085], [207307748, 207307937], [207314450, 207314621], [207317162, 207317338], [207317888, 207318062]]
ENST00000421786 [[207277650, 207277775], [207286243, 207286512], [207287444, 207287630], [207288760, 207288860], [207297266, 207297294]] [[207286370, 207286512], [207287444, 207287630], [207288760, 207288860], [207297266, 207297294]]
ENST00000424088 [[207277722, 207277775], [207286345, 207286512], [207287444, 207287630], [207288020, 207288116], [207288760, 207288810]] [[207286370, 207286512], [207287444, 207287630], [207288020, 207288049]]
NM_000715 [[207277606, 207277775], [207286345, 207286512], [207287444, 207287630], [207288760, 207288860], [207297266, 207297352], [207297519, 207297711], [207300057, 207300240], [207304890, 207305085], [207307748, 207307937], [207314450, 207314621], [207317162, 207317338], [207317888, 207318317]] [[207286370, 207286512], [207287444, 207287630], [207288760, 207288860], [207297266, 207297352], [207297519, 207297711], [207300057, 207300240], [207304890, 207305085], [207307748, 207307937], [207314450, 207314621], [207317162, 207317338], [207317888, 207318062]]
Promoter
Chrom Start End Description
chr1 207277527 207277534 CAGE_peak_10_at_C4BPA_5end
chr1 207277542 207277554 CAGE_peak_7_at_C4BPA_5end
chr1 207277564 207277569 CAGE_peak_8_at_C4BPA_5end
chr1 207277572 207277587 CAGE_peak_4_at_C4BPA_5end
chr1 207277590 207277620 CAGE_peak_5_at_C4BPA_5end
chr1 207277632 207277676 CAGE_peak_1_at_C4BPA_5end
chr1 207277681 207277700 CAGE_peak_3_at_C4BPA_5end
chr1 207277701 207277733 CAGE_peak_2_at_C4BPA_5end
chr1 207286360 207286386 CAGE_peak_6_at_C4BPA_5end
chr1 207287443 207287461 CAGE_peak_9_at_C4BPA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I207907 207907424 207913068 2.35 [{'connected_gene': 'CD34', 'score': 562.64}, {'connected_gene': 'C4BPA', 'score': 4.24}, {'connected_gene': 'MIR29B2CHG', 'score': 0.26}]
chr1 GH01I207886 207886873 207892721 1.12 [{'connected_gene': 'CD34', 'score': 12.59}, {'connected_gene': 'PLXNA2', 'score': 9.14}, {'connected_gene': 'C4BPA', 'score': 6.29}, {'connected_gene': 'CD46', 'score': 4.65}, {'connected_gene': 'MIR29B2CHG', 'score': 0.34}]
chr1 GH01I206963 206963386 206964738 0.38 [{'connected_gene': 'FCMR', 'score': 11.94}, {'connected_gene': 'IL24', 'score': 10.04}, {'connected_gene': 'IL20', 'score': 9.92}, {'connected_gene': 'ENSG00000271680', 'score': 9.44}, {'connected_gene': 'C4BPA', 'score': 4.1}, {'connected_gene': 'FCAMR', 'score': 0.44}, {'connected_gene': 'PIGR', 'score': 0.37}]
chr1 GH01I206992 206992268 206993565 0.66 [{'connected_gene': 'FCAMR', 'score': 11.25}, {'connected_gene': 'PIGR', 'score': 11.05}, {'connected_gene': 'IL20', 'score': 10.9}, {'connected_gene': 'C1orf116', 'score': 10.39}, {'connected_gene': 'C4BPA', 'score': 4.66}, {'connected_gene': 'ENSG00000271680', 'score': 4.64}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.39}]
chr1 GH01I207017 207017474 207035862 2.25 [{'connected_gene': 'C1orf116', 'score': 556.44}, {'connected_gene': 'EIF2D', 'score': 34.52}, {'connected_gene': 'C4BPA', 'score': 20.19}, {'connected_gene': 'CDCA4P4', 'score': 19.45}, {'connected_gene': 'C4BPB', 'score': 15.23}, {'connected_gene': 'FCAMR', 'score': 10.87}, {'connected_gene': 'PIGR', 'score': 10.84}, {'connected_gene': 'FCMR', 'score': 10.81}, {'connected_gene': 'RPL7AP20', 'score': 10.19}, {'connected_gene': 'IL20', 'score': 10.08}, {'connected_gene': 'CD46', 'score': 9.92}, {'connected_gene': 'PFKFB2', 'score': 9.31}, {'connected_gene': 'GC01P207018', 'score': 0.44}]
chr1 GH01I207093 207093482 207095175 0.57 [{'connected_gene': 'C4BPB', 'score': 8.93}, {'connected_gene': 'C4BPA', 'score': 0.44}]
chr1 GH01I207088 207088027 207090936 1.83 [{'connected_gene': 'C4BPB', 'score': 559.74}, {'connected_gene': 'C4BPA', 'score': 0.39}]
chr1 GH01I207906 207905336 207906655 0.2 [{'connected_gene': 'C4BPA', 'score': 6.28}, {'connected_gene': 'CD34', 'score': 0.44}, {'connected_gene': 'MIR29B2CHG', 'score': 0.28}]
chr1 GH01I207103 207103649 207104496 1.34 [{'connected_gene': 'C4BPA', 'score': 596.86}, {'connected_gene': 'C4BPB', 'score': 0.37}]
chr1 GH01I207728 207728636 207728785 0.77 [{'connected_gene': 'C4BPA', 'score': 5.85}, {'connected_gene': 'GC01P207741', 'score': 0.39}, {'connected_gene': 'GC01M207468', 'score': 0.39}, {'connected_gene': 'CR1L', 'score': 0.18}]
chr1 GH01I207108 207108438 207110131 1.09 [{'connected_gene': 'C4BPA', 'score': 556.66}, {'connected_gene': 'ENSG00000275392', 'score': 0.37}]
chr1 GH01I206978 206978650 206979424 0.57 [{'connected_gene': 'PIGR', 'score': 12.28}, {'connected_gene': 'FCMR', 'score': 12.21}, {'connected_gene': 'IL20', 'score': 10.52}, {'connected_gene': 'IL10', 'score': 10.1}, {'connected_gene': 'MAPKAPK2', 'score': 9.25}, {'connected_gene': 'ENSG00000271680', 'score': 6.25}, {'connected_gene': 'C4BPA', 'score': 5.24}, {'connected_gene': 'FCAMR', 'score': 0.44}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.31}]
chr1 GH01I207070 207070401 207072137 0.4 [{'connected_gene': 'PFKFB2', 'score': 27.06}, {'connected_gene': 'C1orf116', 'score': 10.88}, {'connected_gene': 'FCAMR', 'score': 10.35}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'C4BPA', 'score': 10.23}, {'connected_gene': 'IL20', 'score': 9.83}, {'connected_gene': 'YOD1', 'score': 0.37}, {'connected_gene': 'C4BPB', 'score': 0.37}]
chr1 GH01I207077 207077800 207078201 1.27 [{'connected_gene': 'PFKFB2', 'score': 25.82}, {'connected_gene': 'CR1', 'score': 10.7}, {'connected_gene': 'C4BPA', 'score': 10.58}, {'connected_gene': 'FCAMR', 'score': 10.38}, {'connected_gene': 'PIGR', 'score': 10.36}, {'connected_gene': 'C4BPB', 'score': 0.39}, {'connected_gene': 'YOD1', 'score': 0.34}]
chr1 GH01I207857 207857300 207860076 0.52 [{'connected_gene': 'CD46', 'score': 22.64}, {'connected_gene': 'CD34', 'score': 9.66}, {'connected_gene': 'C4BPA', 'score': 7.68}, {'connected_gene': 'MIR29B2CHG', 'score': 0.39}, {'connected_gene': 'GC01P207829', 'score': 0.28}, {'connected_gene': 'PIR33548', 'score': 0.28}]
chr1 GH01I207518 207518624 207521376 0.99 [{'connected_gene': 'EIF2D', 'score': 11.15}, {'connected_gene': 'C4BPA', 'score': 9.6}, {'connected_gene': 'CR1', 'score': 5.03}, {'connected_gene': 'GC01P207523', 'score': 0.77}, {'connected_gene': 'GC01M207468', 'score': 0.08}]
chr1 GH01I207393 207393000 207394615 0.88 [{'connected_gene': 'CD55', 'score': 11.0}, {'connected_gene': 'C4BPA', 'score': 9.76}, {'connected_gene': 'IL20', 'score': 9.55}, {'connected_gene': 'ENSG00000283044', 'score': 0.34}, {'connected_gene': 'ENSG00000274245', 'score': 0.34}]
chr1 GH01I207217 207217915 207219454 0.77 [{'connected_gene': 'CD55', 'score': 10.59}, {'connected_gene': 'C4BPA', 'score': 10.57}, {'connected_gene': 'CR2', 'score': 9.53}, {'connected_gene': 'C4BPAP2', 'score': 0.44}, {'connected_gene': 'C4BPAP3', 'score': 0.34}]
chr1 GH01I207351 207351838 207359467 0.54 [{'connected_gene': 'CD55', 'score': 28.93}, {'connected_gene': 'C4BPA', 'score': 9.65}, {'connected_gene': 'LOC105372881', 'score': 0.39}]
chr1 GH01I207319 207319274 207324303 2.31 [{'connected_gene': 'CD55', 'score': 569.81}, {'connected_gene': 'EIF2D', 'score': 13.49}, {'connected_gene': 'CD46', 'score': 12.45}, {'connected_gene': 'CR2', 'score': 10.07}, {'connected_gene': 'C4BPA', 'score': 9.59}, {'connected_gene': 'LOC105372881', 'score': 0.25}]
chr1 GH01I207280 207280436 207285377 1.06 [{'connected_gene': 'CD55', 'score': 29.23}, {'connected_gene': 'CR2', 'score': 10.2}, {'connected_gene': 'C4BPA', 'score': 4.51}, {'connected_gene': 'ENSG00000237074', 'score': 0.26}]
chr1 GH01I207239 207239800 207244925 1.46 [{'connected_gene': 'CD55', 'score': 23.14}, {'connected_gene': 'CR2', 'score': 10.23}, {'connected_gene': 'IL19', 'score': 5.63}, {'connected_gene': 'C4BPA', 'score': 4.54}, {'connected_gene': 'ENSG00000237074', 'score': 0.77}]
chr1 GH01I207248 207248718 207249467 0.46 [{'connected_gene': 'CD55', 'score': 26.31}, {'connected_gene': 'CDCA4P4', 'score': 11.77}, {'connected_gene': 'CR2', 'score': 10.24}, {'connected_gene': 'C4BPA', 'score': 9.77}, {'connected_gene': 'ENSG00000237074', 'score': 0.44}]
chr1 GH01I207424 207424601 207425380 1.02 [{'connected_gene': 'CR2', 'score': 18.12}, {'connected_gene': 'CR1', 'score': 11.1}, {'connected_gene': 'C1orf116', 'score': 10.23}, {'connected_gene': 'C4BPA', 'score': 9.41}, {'connected_gene': 'LOC105372880', 'score': 0.44}]
chr1 GH01I207423 207423601 207424000 0.56 [{'connected_gene': 'CR2', 'score': 12.02}, {'connected_gene': 'CR1', 'score': 11.1}, {'connected_gene': 'C1orf116', 'score': 10.23}, {'connected_gene': 'C4BPA', 'score': 9.41}, {'connected_gene': 'LOC105372880', 'score': 0.44}]
chr1 GH01I207405 207405036 207405185 0.78 [{'connected_gene': 'CR2', 'score': 11.75}, {'connected_gene': 'CR1', 'score': 11.51}, {'connected_gene': 'C4BPB', 'score': 11.39}, {'connected_gene': 'CD55', 'score': 11.01}, {'connected_gene': 'C4BPA', 'score': 9.72}, {'connected_gene': 'ENSG00000283044', 'score': 0.39}, {'connected_gene': 'ENSG00000274245', 'score': 0.29}]
chr1 GH01I207648 207648455 207648607 0.78 [{'connected_gene': 'CR1L', 'score': 13.26}, {'connected_gene': 'C4BPA', 'score': 9.44}, {'connected_gene': 'CD46P1', 'score': 0.77}, {'connected_gene': 'CDCA4P3', 'score': 0.44}, {'connected_gene': 'GC01M207468', 'score': 0.2}]
chr1 GH01I207649 207649048 207650848 1.43 [{'connected_gene': 'CR1L', 'score': 23.12}, {'connected_gene': 'C4BPA', 'score': 9.44}, {'connected_gene': 'CR2', 'score': 4.27}, {'connected_gene': 'CD46P1', 'score': 0.77}, {'connected_gene': 'CDCA4P3', 'score': 0.44}, {'connected_gene': 'GC01M207468', 'score': 0.2}]
chr1 GH01I207644 207644476 207647108 2.17 [{'connected_gene': 'CR1L', 'score': 550.77}, {'connected_gene': 'CD46P1', 'score': 550.77}, {'connected_gene': 'C4BPA', 'score': 9.44}, {'connected_gene': 'CD46', 'score': 5.12}, {'connected_gene': 'CDCA4P3', 'score': 0.39}, {'connected_gene': 'GC01M207468', 'score': 0.2}]
chr1 GH01I207625 207625080 207628344 1.2 [{'connected_gene': 'CR1', 'score': 4.73}, {'connected_gene': 'C4BPA', 'score': 4.42}, {'connected_gene': 'CD46P1', 'score': 0.37}, {'connected_gene': 'ENSG00000236911', 'score': 0.34}, {'connected_gene': 'GC01M207468', 'score': 0.17}]
chr1 GH01I207407 207407601 207408309 1.03 [{'connected_gene': 'CR1', 'score': 20.68}, {'connected_gene': 'CD55', 'score': 13.79}, {'connected_gene': 'CR2', 'score': 11.75}, {'connected_gene': 'C4BPB', 'score': 11.39}, {'connected_gene': 'C4BPA', 'score': 10.0}, {'connected_gene': 'CD46', 'score': 3.49}, {'connected_gene': 'YOD1', 'score': 1.63}, {'connected_gene': 'ENSG00000283044', 'score': 0.44}, {'connected_gene': 'ENSG00000274245', 'score': 0.28}]
chr1 GH01I207897 207897245 207900437 0.56 [{'connected_gene': 'CDCA4P4', 'score': 11.86}, {'connected_gene': 'C4BPA', 'score': 5.47}, {'connected_gene': 'CD34', 'score': 0.39}, {'connected_gene': 'MIR29B2CHG', 'score': 0.31}]
chr1 GH01I206936 206936288 206938092 0.43 [{'connected_gene': 'ENSG00000271680', 'score': 12.3}, {'connected_gene': 'C4BPA', 'score': 4.4}, {'connected_gene': 'PIGR', 'score': 0.44}, {'connected_gene': 'GC01M206926', 'score': 0.39}]
chr1 GH01I206940 206940242 206944217 0.98 [{'connected_gene': 'ENSG00000271680', 'score': 12.26}, {'connected_gene': 'C4BPA', 'score': 4.24}, {'connected_gene': 'PIGR', 'score': 0.77}, {'connected_gene': 'GC01M206926', 'score': 0.37}]
chr1 GH01I206929 206929550 206933419 1.22 [{'connected_gene': 'ENSG00000271680', 'score': 13.12}, {'connected_gene': 'C4BPA', 'score': 4.23}, {'connected_gene': 'GC01M206926', 'score': 0.77}, {'connected_gene': 'PIGR', 'score': 0.39}]

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