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
ENST00000586171 [[13228916, 13228945], [13246013, 13246518]] [[13246021, 13246518]]
ENST00000292431 [[13229150, 13229268], [13246013, 13246967], [13247045, 13247219], [13248084, 13248190], [13248291, 13248389], [13248960, 13251955]] [[13246021, 13246967], [13247045, 13247219], [13248084, 13248190], [13248291, 13248389], [13248960, 13249220]]
ENST00000585663 [[13248092, 13248128], [13248971, 13249550]] [[13248092, 13248128], [13248971, 13249220]]
NM_052876 [[13229101, 13229268], [13246013, 13246967], [13247045, 13247219], [13248084, 13248190], [13248291, 13248389], [13248960, 13251961]] [[13246021, 13246967], [13247045, 13247219], [13248084, 13248190], [13248291, 13248389], [13248960, 13249220]]
Promoter
Chrom Start End Description
chr19 13229019 13229048 CAGE_peak_2_at_NACC1_5end
chr19 13229049 13229111 CAGE_peak_1_at_NACC1_5end
chr19 13229126 13229137 CAGE_peak_3_at_NACC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I013160 13160386 13174204 1.84 [{'connected_gene': 'CCDC130', 'score': 45.53}, {'connected_gene': 'ZNF799', 'score': 33.54}, {'connected_gene': 'ZNF44', 'score': 33.46}, {'connected_gene': 'ZNF791', 'score': 32.13}, {'connected_gene': 'TRIR', 'score': 31.74}, {'connected_gene': 'ZNF564', 'score': 28.78}, {'connected_gene': 'WDR83OS', 'score': 26.78}, {'connected_gene': 'ZNF442', 'score': 21.9}, {'connected_gene': 'TRMT1', 'score': 21.38}, {'connected_gene': 'DCAF15', 'score': 13.73}, {'connected_gene': 'MRI1', 'score': 12.74}, {'connected_gene': 'MAN2B1', 'score': 11.88}, {'connected_gene': 'RFX1', 'score': 11.15}, {'connected_gene': 'RPS6P25', 'score': 11.01}, {'connected_gene': 'LOC284454', 'score': 10.53}, {'connected_gene': 'LYL1', 'score': 9.37}, {'connected_gene': 'JUNB', 'score': 7.1}, {'connected_gene': 'RAD23A', 'score': 5.07}, {'connected_gene': 'HOOK2', 'score': 4.87}, {'connected_gene': 'ZNF709', 'score': 4.61}, {'connected_gene': 'STX10', 'score': 2.82}, {'connected_gene': 'NACC1', 'score': 1.84}, {'connected_gene': 'GADD45GIP1', 'score': 1.43}, {'connected_gene': 'BEST2', 'score': 1.19}, {'connected_gene': 'RPL12P42', 'score': 0.44}, {'connected_gene': 'GC19P013200', 'score': 0.29}]
chr19 GH19I013234 13234401 13235256 1.04 [{'connected_gene': 'CCDC130', 'score': 26.35}, {'connected_gene': 'TRMT1', 'score': 26.11}, {'connected_gene': 'ZNF564', 'score': 21.46}, {'connected_gene': 'WDR83OS', 'score': 19.73}, {'connected_gene': 'ZNF791', 'score': 18.88}, {'connected_gene': 'MRI1', 'score': 18.09}, {'connected_gene': 'ZNF44', 'score': 15.33}, {'connected_gene': 'ZNF799', 'score': 14.74}, {'connected_gene': 'TRIR', 'score': 14.1}, {'connected_gene': 'RPS6P25', 'score': 13.01}, {'connected_gene': 'ZNF442', 'score': 11.34}, {'connected_gene': 'NACC1', 'score': 11.31}, {'connected_gene': 'LYL1', 'score': 11.3}, {'connected_gene': 'MAN2B1', 'score': 9.77}, {'connected_gene': 'RFX1', 'score': 9.74}, {'connected_gene': 'GC19M013244', 'score': 0.39}, {'connected_gene': 'GC19P013200', 'score': 0.29}, {'connected_gene': 'CACNA1A', 'score': 0.05}]
chr19 GH19I013603 13603373 13604128 0.67 [{'connected_gene': 'CCDC130', 'score': 53.72}, {'connected_gene': 'ZNF791', 'score': 50.4}, {'connected_gene': 'TRMT1', 'score': 46.28}, {'connected_gene': 'WDR83OS', 'score': 34.59}, {'connected_gene': 'MRI1', 'score': 33.45}, {'connected_gene': 'RFX1', 'score': 27.74}, {'connected_gene': 'TRIR', 'score': 25.24}, {'connected_gene': 'RPS6P25', 'score': 22.93}, {'connected_gene': 'FBXW9', 'score': 19.85}, {'connected_gene': 'DCAF15', 'score': 13.76}, {'connected_gene': 'DDX39A', 'score': 12.42}, {'connected_gene': 'SNRPGP15', 'score': 11.58}, {'connected_gene': 'MAN2B1', 'score': 11.34}, {'connected_gene': 'ZNF490', 'score': 11.08}, {'connected_gene': 'NACC1', 'score': 10.12}, {'connected_gene': 'LYL1', 'score': 10.11}, {'connected_gene': 'CACNA1A', 'score': 0.31}, {'connected_gene': 'GC19M013614', 'score': 0.31}, {'connected_gene': 'GC19P013560', 'score': 0.26}]
chr19 GH19I013030 13030322 13038529 1.66 [{'connected_gene': 'TRMT1', 'score': 41.48}, {'connected_gene': 'ZNF844', 'score': 36.77}, {'connected_gene': 'ZNF791', 'score': 36.65}, {'connected_gene': 'ZNF442', 'score': 34.85}, {'connected_gene': 'ZNF136', 'score': 34.51}, {'connected_gene': 'ZNF625', 'score': 23.24}, {'connected_gene': 'MRI1', 'score': 22.85}, {'connected_gene': 'RPS6P25', 'score': 22.43}, {'connected_gene': 'STX10', 'score': 17.13}, {'connected_gene': 'ZNF433', 'score': 13.91}, {'connected_gene': 'NFIX', 'score': 13.09}, {'connected_gene': 'DAND5', 'score': 13.02}, {'connected_gene': 'GADD45GIP1', 'score': 13.0}, {'connected_gene': 'CCDC130', 'score': 12.45}, {'connected_gene': 'ZNF564', 'score': 12.03}, {'connected_gene': 'LYL1', 'score': 12.0}, {'connected_gene': 'NACC1', 'score': 11.97}, {'connected_gene': 'IER2', 'score': 11.44}, {'connected_gene': 'ZNF44', 'score': 10.39}, {'connected_gene': 'ZNF563', 'score': 9.86}, {'connected_gene': 'ENSG00000242615', 'score': 9.73}, {'connected_gene': 'GCDH', 'score': 6.13}, {'connected_gene': 'TNPO2', 'score': 3.91}, {'connected_gene': 'FBXW9', 'score': 2.14}, {'connected_gene': 'WDR83', 'score': 1.96}, {'connected_gene': 'PIR45233', 'score': 0.39}, {'connected_gene': 'ENSG00000267610', 'score': 0.28}]
chr19 GH19I013604 13604313 13605514 0.68 [{'connected_gene': 'TRMT1', 'score': 20.19}, {'connected_gene': 'DHPS', 'score': 11.94}, {'connected_gene': 'NACC1', 'score': 10.12}, {'connected_gene': 'LYL1', 'score': 10.11}, {'connected_gene': 'GC19M013614', 'score': 0.34}, {'connected_gene': 'CACNA1A', 'score': 0.31}, {'connected_gene': 'GC19P013560', 'score': 0.26}]
chr19 GH19I013115 13115082 13122789 2.59 [{'connected_gene': 'TRMT1', 'score': 595.16}, {'connected_gene': 'NACC1', 'score': 550.77}, {'connected_gene': 'ZNF791', 'score': 69.39}, {'connected_gene': 'ZNF136', 'score': 63.8}, {'connected_gene': 'ZNF442', 'score': 56.66}, {'connected_gene': 'CCDC130', 'score': 54.69}, {'connected_gene': 'MRI1', 'score': 52.14}, {'connected_gene': 'ZNF564', 'score': 45.93}, {'connected_gene': 'WDR83OS', 'score': 44.97}, {'connected_gene': 'ZNF44', 'score': 44.94}, {'connected_gene': 'RPS6P25', 'score': 39.82}, {'connected_gene': 'ZNF799', 'score': 36.73}, {'connected_gene': 'ZNF625', 'score': 32.88}, {'connected_gene': 'TRIR', 'score': 24.25}, {'connected_gene': 'LOC105372278', 'score': 18.58}, {'connected_gene': 'RFX1', 'score': 17.82}, {'connected_gene': 'LOC284454', 'score': 14.19}, {'connected_gene': 'ENSG00000268945', 'score': 11.83}, {'connected_gene': 'NANOS3', 'score': 11.52}, {'connected_gene': 'TNPO2', 'score': 10.13}, {'connected_gene': 'ZNF563', 'score': 9.86}, {'connected_gene': 'ZNF709', 'score': 9.81}, {'connected_gene': 'ZNF20', 'score': 9.8}, {'connected_gene': 'MAN2B1', 'score': 9.79}, {'connected_gene': 'FARSA', 'score': 5.2}, {'connected_gene': 'JUNB', 'score': 2.91}, {'connected_gene': 'WDR83', 'score': 1.94}, {'connected_gene': 'ENSG00000266897', 'score': 0.39}]
chr19 GH19I013042 13042471 13045474 1.18 [{'connected_gene': 'TRMT1', 'score': 22.22}, {'connected_gene': 'ZNF20', 'score': 21.95}, {'connected_gene': 'ZNF490', 'score': 16.0}, {'connected_gene': 'LYL1', 'score': 12.4}, {'connected_gene': 'NACC1', 'score': 12.37}, {'connected_gene': 'RNASEH2A', 'score': 12.05}, {'connected_gene': 'NFIX', 'score': 12.01}, {'connected_gene': 'DAND5', 'score': 11.95}, {'connected_gene': 'GADD45GIP1', 'score': 11.93}, {'connected_gene': 'DCAF15', 'score': 11.88}, {'connected_gene': 'ZNF44', 'score': 11.4}, {'connected_gene': 'STX10', 'score': 11.21}, {'connected_gene': 'IER2', 'score': 11.21}, {'connected_gene': 'SYCE2', 'score': 11.04}, {'connected_gene': 'CCDC130', 'score': 11.04}, {'connected_gene': 'RPL28P5', 'score': 10.69}, {'connected_gene': 'ZNF136', 'score': 10.59}, {'connected_gene': 'FBXW9', 'score': 10.47}, {'connected_gene': 'ZNF799', 'score': 9.99}, {'connected_gene': 'RFX1', 'score': 9.72}, {'connected_gene': 'JUNB', 'score': 3.62}, {'connected_gene': 'ZNF791', 'score': 3.23}, {'connected_gene': 'WDR83', 'score': 1.68}, {'connected_gene': 'ZNF564', 'score': 1.26}, {'connected_gene': 'PIR45233', 'score': 0.34}, {'connected_gene': 'ENSG00000267610', 'score': 0.31}]
chr19 GH19I013011 13011600 13028789 2.76 [{'connected_gene': 'NFIX', 'score': 566.3}, {'connected_gene': 'ZNF136', 'score': 48.3}, {'connected_gene': 'ZNF709', 'score': 47.13}, {'connected_gene': 'ZNF791', 'score': 43.3}, {'connected_gene': 'TRMT1', 'score': 42.99}, {'connected_gene': 'CCDC130', 'score': 38.84}, {'connected_gene': 'MRI1', 'score': 36.72}, {'connected_gene': 'ZNF44', 'score': 34.35}, {'connected_gene': 'ZNF564', 'score': 32.98}, {'connected_gene': 'ZNF625', 'score': 31.23}, {'connected_gene': 'ZNF442', 'score': 30.86}, {'connected_gene': 'ZNF844', 'score': 28.29}, {'connected_gene': 'WDR83OS', 'score': 28.26}, {'connected_gene': 'ZNF788', 'score': 27.62}, {'connected_gene': 'ZNF20', 'score': 24.46}, {'connected_gene': 'ZNF799', 'score': 23.33}, {'connected_gene': 'ZNF433', 'score': 22.78}, {'connected_gene': 'TRIR', 'score': 22.07}, {'connected_gene': 'ENSG00000242615', 'score': 21.61}, {'connected_gene': 'ZNF878', 'score': 19.37}, {'connected_gene': 'RFX1', 'score': 18.24}, {'connected_gene': 'SYCE2', 'score': 13.74}, {'connected_gene': 'RPS6P25', 'score': 13.09}, {'connected_gene': 'DAND5', 'score': 13.04}, {'connected_gene': 'GADD45GIP1', 'score': 13.02}, {'connected_gene': 'DHPS', 'score': 11.97}, {'connected_gene': 'LYL1', 'score': 11.97}, {'connected_gene': 'NACC1', 'score': 11.94}, {'connected_gene': 'NANOS3', 'score': 11.52}, {'connected_gene': 'ZNF490', 'score': 10.77}, {'connected_gene': 'ENSG00000248406', 'score': 10.3}, {'connected_gene': 'TNPO2', 'score': 10.02}, {'connected_gene': 'FBXW9', 'score': 9.82}, {'connected_gene': 'MAN2B1', 'score': 9.79}, {'connected_gene': 'GCDH', 'score': 5.84}, {'connected_gene': 'CALR', 'score': 5.83}, {'connected_gene': 'DNASE2', 'score': 5.37}, {'connected_gene': 'MAST1', 'score': 2.22}, {'connected_gene': 'WDR83', 'score': 1.44}, {'connected_gene': 'CACNA1A', 'score': 1.39}, {'connected_gene': 'PIR45233', 'score': 0.77}, {'connected_gene': 'GC19M013014', 'score': 0.44}, {'connected_gene': 'ENSG00000267417', 'score': 0.44}]
chr19 GH19I013029 13029702 13030253 0.76 [{'connected_gene': 'NFIX', 'score': 13.11}, {'connected_gene': 'DAND5', 'score': 13.02}, {'connected_gene': 'GADD45GIP1', 'score': 13.01}, {'connected_gene': 'LYL1', 'score': 11.98}, {'connected_gene': 'NACC1', 'score': 11.96}, {'connected_gene': 'TRMT1', 'score': 11.96}, {'connected_gene': 'PIR45233', 'score': 0.44}, {'connected_gene': 'ENSG00000267610', 'score': 0.26}]
chr19 GH19I013039 13039221 13041494 0.43 [{'connected_gene': 'LYL1', 'score': 12.36}, {'connected_gene': 'NFIX', 'score': 12.35}, {'connected_gene': 'NACC1', 'score': 12.33}, {'connected_gene': 'TRMT1', 'score': 12.33}, {'connected_gene': 'DAND5', 'score': 12.27}, {'connected_gene': 'GADD45GIP1', 'score': 12.26}, {'connected_gene': 'STX10', 'score': 11.44}, {'connected_gene': 'IER2', 'score': 11.44}, {'connected_gene': 'SYCE2', 'score': 10.65}, {'connected_gene': 'GCDH', 'score': 6.29}, {'connected_gene': 'PIR45233', 'score': 0.37}, {'connected_gene': 'ENSG00000267610', 'score': 0.29}]
chr19 GH19I013038 13038824 13039138 0.31 [{'connected_gene': 'LYL1', 'score': 11.84}, {'connected_gene': 'NACC1', 'score': 11.81}, {'connected_gene': 'TRMT1', 'score': 11.81}, {'connected_gene': 'STX10', 'score': 11.44}, {'connected_gene': 'IER2', 'score': 11.44}, {'connected_gene': 'CALR', 'score': 4.44}, {'connected_gene': 'PIR45233', 'score': 0.37}, {'connected_gene': 'ENSG00000267610', 'score': 0.29}, {'connected_gene': 'NFIX', 'score': 0.26}]
chr19 GH19I013067 13067547 13067696 0.51 [{'connected_gene': 'LYL1', 'score': 12.31}, {'connected_gene': 'NACC1', 'score': 12.28}, {'connected_gene': 'TRMT1', 'score': 12.28}, {'connected_gene': 'STX10', 'score': 11.15}, {'connected_gene': 'IER2', 'score': 11.15}, {'connected_gene': 'ENSG00000267610', 'score': 0.77}, {'connected_gene': 'PIR45233', 'score': 0.26}, {'connected_gene': 'NFIX', 'score': 0.19}]
chr19 GH19I013065 13065577 13067398 0.38 [{'connected_gene': 'LYL1', 'score': 12.34}, {'connected_gene': 'NACC1', 'score': 12.29}, {'connected_gene': 'TRMT1', 'score': 12.29}, {'connected_gene': 'STX10', 'score': 11.15}, {'connected_gene': 'IER2', 'score': 11.15}, {'connected_gene': 'ENSG00000267610', 'score': 0.77}, {'connected_gene': 'PIR45233', 'score': 0.26}, {'connected_gene': 'NFIX', 'score': 0.19}]
chr19 GH19I013045 13045489 13048689 0.31 [{'connected_gene': 'LYL1', 'score': 12.74}, {'connected_gene': 'NACC1', 'score': 12.72}, {'connected_gene': 'TRMT1', 'score': 12.71}, {'connected_gene': 'STX10', 'score': 11.22}, {'connected_gene': 'IER2', 'score': 11.22}, {'connected_gene': 'PIR45233', 'score': 0.34}, {'connected_gene': 'ENSG00000267610', 'score': 0.34}, {'connected_gene': 'NFIX', 'score': 0.23}]
chr19 GH19I013062 13062478 13065399 0.83 [{'connected_gene': 'LYL1', 'score': 12.8}, {'connected_gene': 'NACC1', 'score': 12.76}, {'connected_gene': 'TRMT1', 'score': 12.76}, {'connected_gene': 'CALR', 'score': 4.71}, {'connected_gene': 'ENSG00000267610', 'score': 0.44}, {'connected_gene': 'PIR45233', 'score': 0.26}, {'connected_gene': 'NFIX', 'score': 0.2}]
chr19 GH19I013597 13597584 13601100 0.67 [{'connected_gene': 'LYL1', 'score': 10.12}, {'connected_gene': 'NACC1', 'score': 10.12}, {'connected_gene': 'TRMT1', 'score': 10.12}, {'connected_gene': 'PKN1', 'score': 5.64}, {'connected_gene': 'C19orf53', 'score': 4.57}, {'connected_gene': 'GC19M013614', 'score': 0.31}, {'connected_gene': 'CACNA1A', 'score': 0.29}, {'connected_gene': 'GC19P013560', 'score': 0.28}]
chr19 GH19I013050 13050235 13062320 2.09 [{'connected_gene': 'LYL1', 'score': 12.77}, {'connected_gene': 'NACC1', 'score': 12.74}, {'connected_gene': 'TRMT1', 'score': 12.74}, {'connected_gene': 'MAST1', 'score': 10.9}, {'connected_gene': 'STX10', 'score': 6.47}, {'connected_gene': 'CALR', 'score': 5.68}, {'connected_gene': 'GCDH', 'score': 4.26}, {'connected_gene': 'ENSG00000267610', 'score': 0.37}, {'connected_gene': 'PIR45233', 'score': 0.29}, {'connected_gene': 'NFIX', 'score': 0.21}]
chr19 GH19I013139 13139259 13140772 0.54 [{'connected_gene': 'PIR31277', 'score': 550.77}, {'connected_gene': 'GC19P013139', 'score': 550.77}, {'connected_gene': 'ENSG00000267512', 'score': 550.77}, {'connected_gene': 'STX10', 'score': 5.61}, {'connected_gene': 'WDR83OS', 'score': 4.3}, {'connected_gene': 'NACC1', 'score': 0.34}]
chr19 GH19I013128 13127331 13127403 0.45 [{'connected_gene': 'ENSG00000266897', 'score': 0.77}, {'connected_gene': 'TRMT1', 'score': 0.44}, {'connected_gene': 'NACC1', 'score': 0.39}]
chr19 GH19I013068 13068167 13071508 1.17 [{'connected_gene': 'ENSG00000267610', 'score': 550.77}, {'connected_gene': 'LYL1', 'score': 13.29}, {'connected_gene': 'NACC1', 'score': 13.24}, {'connected_gene': 'TRMT1', 'score': 13.24}, {'connected_gene': 'STX10', 'score': 11.29}, {'connected_gene': 'IER2', 'score': 11.29}, {'connected_gene': 'RNASEH2A', 'score': 10.64}, {'connected_gene': 'PIR45233', 'score': 0.25}, {'connected_gene': 'NFIX', 'score': 0.19}]
chr19 GH19I013127 13127779 13129515 0.83 [{'connected_gene': 'ENSG00000266897', 'score': 0.77}, {'connected_gene': 'NACC1', 'score': 0.39}, {'connected_gene': 'TRMT1', 'score': 0.39}]
chr19 GH19I013130 13130970 13132065 0.56 [{'connected_gene': 'ENSG00000266897', 'score': 550.77}, {'connected_gene': 'NACC1', 'score': 0.39}, {'connected_gene': 'TRMT1', 'score': 0.39}]
chr19 GH19I013140 13140800 13141200 0.93 [{'connected_gene': 'ENSG00000267512', 'score': 550.77}, {'connected_gene': 'PIR31277', 'score': 0.77}, {'connected_gene': 'GC19P013139', 'score': 0.77}, {'connected_gene': 'NACC1', 'score': 0.34}]
chr19 GH19I013134 13134667 13134816 0.4 [{'connected_gene': 'PIR45650', 'score': 550.77}, {'connected_gene': 'ENSG00000266897', 'score': 0.77}, {'connected_gene': 'NACC1', 'score': 0.37}]
chr19 GH19I013135 13135159 13136530 0.2 [{'connected_gene': 'PIR45650', 'score': 550.77}, {'connected_gene': 'PIR31277', 'score': 0.77}, {'connected_gene': 'GC19P013139', 'score': 0.77}, {'connected_gene': 'NACC1', 'score': 0.37}]
chr19 GH19I013132 13132218 13133339 0.66 [{'connected_gene': 'ENSG00000266897', 'score': 550.77}, {'connected_gene': 'PIR45650', 'score': 0.77}, {'connected_gene': 'NACC1', 'score': 0.37}]

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