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
ENST00000396267 [[8271954, 8273704], [8279217, 8280029]] [[8272451, 8273684]]
ENST00000331336 [[8271972, 8273704], [8274626, 8274858]] [[8272451, 8273704], [8274626, 8274852]]
NM_213597 [[8271954, 8273704], [8274626, 8274858]] [[8272451, 8273704], [8274626, 8274852]]
NM_001304947 [[8271954, 8273704], [8279217, 8280029]] [[8272451, 8273684]]
Promoter
Chrom Start End Description
chr17 8279931 8279943 CAGE_peak_3_at_KRBA2_5end
chr17 8279948 8279969 CAGE_peak_2_at_KRBA2_5end
chr17 8279977 8280032 CAGE_peak_1_at_KRBA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I008435 8435079 8437935 2.03 [{'connected_gene': 'NDEL1', 'score': 555.61}, {'connected_gene': 'RPL26', 'score': 11.3}, {'connected_gene': 'KRBA2', 'score': 11.29}, {'connected_gene': 'RNF222', 'score': 10.84}, {'connected_gene': 'RNU7-43P', 'score': 10.32}, {'connected_gene': 'ENSG00000212206', 'score': 10.28}, {'connected_gene': 'MYH10', 'score': 10.21}, {'connected_gene': 'GC17P008467', 'score': 0.29}]
chr17 GH17I008415 8414601 8415000 0.2 [{'connected_gene': 'NDEL1', 'score': 555.89}, {'connected_gene': 'RPL26', 'score': 11.29}, {'connected_gene': 'KRBA2', 'score': 11.28}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'SLC25A35', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'RNF222', 'score': 5.22}, {'connected_gene': 'GC17P008467', 'score': 0.23}]
chr17 GH17I008414 8414201 8414400 0.31 [{'connected_gene': 'NDEL1', 'score': 550.77}, {'connected_gene': 'RPL26', 'score': 11.29}, {'connected_gene': 'KRBA2', 'score': 11.28}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'SLC25A35', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'GC17P008467', 'score': 0.23}]
chr17 GH17I008412 8412163 8413800 1.26 [{'connected_gene': 'NDEL1', 'score': 560.17}, {'connected_gene': 'WRAP53', 'score': 11.56}, {'connected_gene': 'RPL26', 'score': 11.31}, {'connected_gene': 'KRBA2', 'score': 11.28}, {'connected_gene': 'ZBTB4', 'score': 10.82}, {'connected_gene': 'SLC25A35', 'score': 10.57}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'PIK3R6', 'score': 9.14}, {'connected_gene': 'CNTROB', 'score': 4.16}, {'connected_gene': 'PER1', 'score': 2.99}, {'connected_gene': 'BORCS6', 'score': 2.35}, {'connected_gene': 'RNF222', 'score': 0.37}]
chr17 GH17I008172 8172372 8177561 2.37 [{'connected_gene': 'SNORD118', 'score': 550.77}, {'connected_gene': 'TMEM107', 'score': 550.77}, {'connected_gene': 'GC17M008511', 'score': 550.77}, {'connected_gene': 'LOC105371520', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 120.98}, {'connected_gene': 'CTC1', 'score': 108.83}, {'connected_gene': 'CNTROB', 'score': 103.01}, {'connected_gene': 'POLR2A', 'score': 94.41}, {'connected_gene': 'WRAP53', 'score': 93.86}, {'connected_gene': 'SNORD10', 'score': 82.64}, {'connected_gene': 'PFAS', 'score': 81.08}, {'connected_gene': 'KDM6B', 'score': 74.25}, {'connected_gene': 'SNORA48', 'score': 62.39}, {'connected_gene': 'PER1', 'score': 57.94}, {'connected_gene': 'ENSG00000265749', 'score': 53.22}, {'connected_gene': 'EIF4A1', 'score': 52.47}, {'connected_gene': 'MIR324', 'score': 41.95}, {'connected_gene': 'PLSCR3', 'score': 40.31}, {'connected_gene': 'KCTD11', 'score': 29.38}, {'connected_gene': 'TP53', 'score': 28.33}, {'connected_gene': 'SENP3', 'score': 27.48}, {'connected_gene': 'GPS2', 'score': 24.12}, {'connected_gene': 'RPL26', 'score': 19.72}, {'connected_gene': 'NEURL4', 'score': 17.99}, {'connected_gene': 'VAMP2', 'score': 12.28}, {'connected_gene': 'CYB5D1', 'score': 11.88}, {'connected_gene': 'ATP1B2', 'score': 10.94}, {'connected_gene': 'ENSG00000269947', 'score': 10.47}, {'connected_gene': 'HES7', 'score': 10.4}, {'connected_gene': 'NLGN2', 'score': 10.22}, {'connected_gene': 'SLC25A35', 'score': 10.09}, {'connected_gene': 'CHD3', 'score': 9.91}, {'connected_gene': 'LOC100996842', 'score': 9.9}, {'connected_gene': 'ALOXE3', 'score': 4.87}, {'connected_gene': 'KRBA2', 'score': 4.66}, {'connected_gene': 'SPEM2', 'score': 4.45}]
chr17 GH17I008438 8438543 8438692 0.2 [{'connected_gene': 'RPL26', 'score': 11.29}, {'connected_gene': 'KRBA2', 'score': 11.27}, {'connected_gene': 'RNF222', 'score': 10.83}, {'connected_gene': 'ENSG00000212206', 'score': 10.28}, {'connected_gene': 'NDEL1', 'score': 0.31}, {'connected_gene': 'GC17P008467', 'score': 0.31}]
chr17 GH17I008440 8438201 8438400 0.2 [{'connected_gene': 'RPL26', 'score': 11.29}, {'connected_gene': 'KRBA2', 'score': 11.27}, {'connected_gene': 'RNF222', 'score': 10.83}, {'connected_gene': 'ENSG00000212206', 'score': 10.28}, {'connected_gene': 'NDEL1', 'score': 0.31}, {'connected_gene': 'GC17P008467', 'score': 0.31}]
chr17 GH17I008439 8438103 8438140 0.2 [{'connected_gene': 'RPL26', 'score': 11.3}, {'connected_gene': 'KRBA2', 'score': 11.27}, {'connected_gene': 'RNF222', 'score': 10.83}, {'connected_gene': 'ENSG00000212206', 'score': 10.28}, {'connected_gene': 'NDEL1', 'score': 0.34}, {'connected_gene': 'GC17P008467', 'score': 0.31}]
chr17 GH17I008409 8409887 8411127 1.09 [{'connected_gene': 'RPL26', 'score': 11.31}, {'connected_gene': 'KRBA2', 'score': 11.29}, {'connected_gene': 'SLC25A35', 'score': 10.57}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'NDEL1', 'score': 5.24}, {'connected_gene': 'RNF222', 'score': 0.39}]
chr17 GH17I008408 8408091 8409114 0.77 [{'connected_gene': 'RPL26', 'score': 11.31}, {'connected_gene': 'KRBA2', 'score': 11.29}, {'connected_gene': 'SLC25A35', 'score': 10.97}, {'connected_gene': 'RANGRF', 'score': 10.57}, {'connected_gene': 'PFAS', 'score': 10.54}, {'connected_gene': 'RNU7-43P', 'score': 10.38}, {'connected_gene': 'MYH10', 'score': 10.3}, {'connected_gene': 'NDEL1', 'score': 0.77}, {'connected_gene': 'RNF222', 'score': 0.39}]
chr17 GH17I008326 8326203 8327800 0.77 [{'connected_gene': 'PFAS', 'score': 24.44}, {'connected_gene': 'CTC1', 'score': 23.49}, {'connected_gene': 'CNTROB', 'score': 18.19}, {'connected_gene': 'POLR2A', 'score': 15.11}, {'connected_gene': 'WRAP53', 'score': 14.6}, {'connected_gene': 'ENSG00000265749', 'score': 13.79}, {'connected_gene': 'ODF4', 'score': 12.42}, {'connected_gene': 'KRBA2', 'score': 11.51}, {'connected_gene': 'SLC25A35', 'score': 11.27}, {'connected_gene': 'RANGRF', 'score': 11.25}, {'connected_gene': 'KDM6B', 'score': 10.61}, {'connected_gene': 'SNORD10', 'score': 10.33}, {'connected_gene': 'AURKB', 'score': 10.0}, {'connected_gene': 'RNF222', 'score': 9.71}, {'connected_gene': 'SNORD118', 'score': 9.65}, {'connected_gene': 'TMEM107', 'score': 9.65}, {'connected_gene': 'ENSG00000226871', 'score': 7.89}, {'connected_gene': 'GC17P008331', 'score': 0.77}]
chr17 GH17I008628 8628377 8632643 2.54 [{'connected_gene': 'MYH10', 'score': 550.77}, {'connected_gene': 'ENSG00000265749', 'score': 31.2}, {'connected_gene': 'CNTROB', 'score': 26.39}, {'connected_gene': 'WRAP53', 'score': 24.54}, {'connected_gene': 'PFAS', 'score': 18.38}, {'connected_gene': 'STX8', 'score': 15.43}, {'connected_gene': 'CYB5D1', 'score': 11.85}, {'connected_gene': 'CTC1', 'score': 10.08}, {'connected_gene': 'SLC25A35', 'score': 10.02}, {'connected_gene': 'VAMP2', 'score': 4.85}, {'connected_gene': 'KRBA2', 'score': 1.77}, {'connected_gene': 'GC17P008563', 'score': 0.2}]
chr17 GH17I008375 8375356 8377645 2.03 [{'connected_gene': 'KRBA2', 'score': 569.13}, {'connected_gene': 'PIR59981', 'score': 550.77}, {'connected_gene': 'ODF4', 'score': 22.0}, {'connected_gene': 'ENSG00000265749', 'score': 20.23}, {'connected_gene': 'RNF222', 'score': 11.89}, {'connected_gene': 'ENSG00000212206', 'score': 11.2}, {'connected_gene': 'ENSG00000263809', 'score': 0.44}, {'connected_gene': 'RPL26', 'score': 0.44}]
chr17 GH17I008137 8137601 8141300 1.53 [{'connected_gene': 'TRS-CGA1-1', 'score': 550.77}, {'connected_gene': 'GC17M008512', 'score': 550.77}, {'connected_gene': 'GC17M008509', 'score': 550.77}, {'connected_gene': 'TRT-AGT5-1', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 104.85}, {'connected_gene': 'PFAS', 'score': 84.15}, {'connected_gene': 'ENSG00000265749', 'score': 41.47}, {'connected_gene': 'SENP3', 'score': 38.64}, {'connected_gene': 'NEURL4', 'score': 36.83}, {'connected_gene': 'CNTROB', 'score': 30.2}, {'connected_gene': 'CTC1', 'score': 26.16}, {'connected_gene': 'SNORD10', 'score': 22.88}, {'connected_gene': 'POLR2A', 'score': 18.51}, {'connected_gene': 'WRAP53', 'score': 18.41}, {'connected_gene': 'SNORA48', 'score': 13.32}, {'connected_gene': 'LOC100996842', 'score': 12.86}, {'connected_gene': 'EIF4A1', 'score': 11.99}, {'connected_gene': 'RPL26', 'score': 11.23}, {'connected_gene': 'ENSG00000269947', 'score': 11.16}, {'connected_gene': 'ATP1B2', 'score': 10.95}, {'connected_gene': 'TP53', 'score': 10.95}, {'connected_gene': 'PLSCR3', 'score': 10.81}, {'connected_gene': 'CYB5D1', 'score': 10.64}, {'connected_gene': 'KCNAB3', 'score': 10.62}, {'connected_gene': 'KCTD11', 'score': 10.6}, {'connected_gene': 'SLC25A35', 'score': 10.53}, {'connected_gene': 'RANGRF', 'score': 10.27}, {'connected_gene': 'SCARNA21', 'score': 10.14}, {'connected_gene': 'ZBTB4', 'score': 9.99}, {'connected_gene': 'HES7', 'score': 5.08}, {'connected_gene': 'KRBA2', 'score': 4.81}, {'connected_gene': 'ENSG00000226871', 'score': 4.68}, {'connected_gene': 'LOC105376799', 'score': 0.39}, {'connected_gene': 'PER1', 'score': 0.37}]
chr17 GH17I008448 8448363 8448512 0.75 [{'connected_gene': 'RNU7-43P', 'score': 11.22}, {'connected_gene': 'MYH10', 'score': 11.1}, {'connected_gene': 'KRBA2', 'score': 10.8}, {'connected_gene': 'RNF222', 'score': 10.75}, {'connected_gene': 'SPDYE4', 'score': 9.72}, {'connected_gene': 'GC17P008467', 'score': 0.37}, {'connected_gene': 'NDEL1', 'score': 0.28}]
chr17 GH17I008447 8447963 8448112 0.2 [{'connected_gene': 'RNU7-43P', 'score': 11.22}, {'connected_gene': 'MYH10', 'score': 11.1}, {'connected_gene': 'KRBA2', 'score': 10.8}, {'connected_gene': 'RNF222', 'score': 10.75}, {'connected_gene': 'SPDYE4', 'score': 9.72}, {'connected_gene': 'GC17P008467', 'score': 0.37}, {'connected_gene': 'NDEL1', 'score': 0.29}]
chr17 GH17I008379 8379669 8385831 2.11 [{'connected_gene': 'ENSG00000263809', 'score': 550.77}, {'connected_gene': 'RPL26', 'score': 550.77}, {'connected_gene': 'ENSG00000265749', 'score': 30.35}, {'connected_gene': 'PFAS', 'score': 28.34}, {'connected_gene': 'SNORD10', 'score': 24.59}, {'connected_gene': 'EIF4A1', 'score': 24.17}, {'connected_gene': 'CTC1', 'score': 22.26}, {'connected_gene': 'POLR2A', 'score': 22.1}, {'connected_gene': 'SNORA48', 'score': 22.09}, {'connected_gene': 'TP53', 'score': 21.81}, {'connected_gene': 'CNTROB', 'score': 20.93}, {'connected_gene': 'KRBA2', 'score': 18.08}, {'connected_gene': 'PLSCR3', 'score': 13.04}, {'connected_gene': 'ODF4', 'score': 11.91}, {'connected_gene': 'WRAP53', 'score': 11.16}, {'connected_gene': 'RANGRF', 'score': 10.32}, {'connected_gene': 'LOC100996842', 'score': 10.01}, {'connected_gene': 'PER1', 'score': 9.75}]
chr17 GH17I008372 8372543 8372692 0.2 [{'connected_gene': 'ENSG00000212206', 'score': 10.9}, {'connected_gene': 'ODF4', 'score': 10.82}, {'connected_gene': 'RNF222', 'score': 10.43}, {'connected_gene': 'PIR59981', 'score': 0.77}, {'connected_gene': 'KRBA2', 'score': 0.77}, {'connected_gene': 'ENSG00000265749', 'score': 0.44}, {'connected_gene': 'ENSG00000263809', 'score': 0.39}]

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