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
ENST00000587885 [[13261228, 13261366], [13263910, 13265063]] [[13264000, 13264672]]
ENST00000292433 [[13261246, 13261366], [13263757, 13265722]] [[13264000, 13264672]]
ENST00000588173 [[13262788, 13265722]] [[13264000, 13264672]]
NM_004907 [[13261281, 13261366], [13263757, 13265722]] [[13264000, 13264672]]
Promoter
Chrom Start End Description
chr19 13261216 13261320 CAGE_peak_1_at_IER2_5end
chr19 13261328 13261359 CAGE_peak_2_at_IER2_5end
chr19 13264446 13264492 CAGE_peak_3_at_IER2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I013148 13148606 13158783 2.9 [{'connected_gene': 'STX10', 'score': 559.97}, {'connected_gene': 'IER2', 'score': 550.77}, {'connected_gene': 'ENSG00000267598', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 84.1}, {'connected_gene': 'ZNF136', 'score': 78.31}, {'connected_gene': 'ZNF44', 'score': 63.56}, {'connected_gene': 'TRMT1', 'score': 62.77}, {'connected_gene': 'ZNF709', 'score': 62.28}, {'connected_gene': 'ZNF564', 'score': 61.78}, {'connected_gene': 'ZNF791', 'score': 55.5}, {'connected_gene': 'WDR83OS', 'score': 52.02}, {'connected_gene': 'TRIR', 'score': 51.9}, {'connected_gene': 'DCAF15', 'score': 48.04}, {'connected_gene': 'RFX1', 'score': 38.27}, {'connected_gene': 'ZNF442', 'score': 37.74}, {'connected_gene': 'ZNF799', 'score': 36.36}, {'connected_gene': 'WDR83', 'score': 29.16}, {'connected_gene': 'TNPO2', 'score': 28.48}, {'connected_gene': 'MRI1', 'score': 28.05}, {'connected_gene': 'RPS6P25', 'score': 27.7}, {'connected_gene': 'ZNF625', 'score': 27.61}, {'connected_gene': 'DHPS', 'score': 24.05}, {'connected_gene': 'ZNF563', 'score': 22.86}, {'connected_gene': 'ENSG00000268945', 'score': 21.0}, {'connected_gene': 'MAN2B1', 'score': 20.43}, {'connected_gene': 'LOC105372278', 'score': 18.59}, {'connected_gene': 'RNASEH2A', 'score': 18.13}, {'connected_gene': 'ZNF490', 'score': 12.35}, {'connected_gene': 'FBXW9', 'score': 11.63}, {'connected_gene': 'RPL28P5', 'score': 10.46}, {'connected_gene': 'ENSG00000248406', 'score': 10.3}, {'connected_gene': 'LOC100289333', 'score': 10.19}, {'connected_gene': 'SYCE2', 'score': 9.74}, {'connected_gene': 'JUNB', 'score': 9.73}, {'connected_gene': 'LYL1', 'score': 1.87}, {'connected_gene': 'DNASE2', 'score': 1.17}, {'connected_gene': 'GC19M013150', 'score': 0.77}, {'connected_gene': 'RPL12P42', 'score': 0.44}]
chr19 GH19I013176 13176133 13177483 0.49 [{'connected_gene': 'STX10', 'score': 12.62}, {'connected_gene': 'IER2', 'score': 12.62}, {'connected_gene': 'LOC100507373', 'score': 5.62}, {'connected_gene': 'RPL12P42', 'score': 0.37}, {'connected_gene': 'GC19P013200', 'score': 0.34}]
chr19 GH19I013180 13180769 13181424 0.2 [{'connected_gene': 'STX10', 'score': 12.62}, {'connected_gene': 'IER2', 'score': 12.6}, {'connected_gene': 'GC19P013200', 'score': 0.37}, {'connected_gene': 'RPL12P42', 'score': 0.34}]
chr19 GH19I013181 13181543 13182576 1.15 [{'connected_gene': 'STX10', 'score': 12.6}, {'connected_gene': 'IER2', 'score': 12.6}, {'connected_gene': 'GC19P013200', 'score': 0.37}, {'connected_gene': 'RPL12P42', 'score': 0.34}]
chr19 GH19I013146 13146732 13147516 0.98 [{'connected_gene': 'STX10', 'score': 0.77}, {'connected_gene': 'IER2', 'score': 0.77}, {'connected_gene': 'ENSG00000267512', 'score': 0.44}]
chr19 GH19I013142 13142640 13144411 1.15 [{'connected_gene': 'STX10', 'score': 6.46}, {'connected_gene': 'ENSG00000267512', 'score': 0.77}, {'connected_gene': 'IER2', 'score': 0.44}]
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 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 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 GH19I013247 13247427 13248201 0.85 [{'connected_gene': 'GC19P013250', 'score': 550.77}, {'connected_gene': 'GC19P013252', 'score': 550.77}, {'connected_gene': 'GC19P013251', 'score': 550.77}, {'connected_gene': 'STX10', 'score': 11.9}, {'connected_gene': 'IER2', 'score': 11.9}, {'connected_gene': 'CACNA1A', 'score': 5.46}, {'connected_gene': 'GC19M013244', 'score': 0.77}]
chr19 GH19I013071 13071673 13072450 0.4 [{'connected_gene': 'ENSG00000267610', 'score': 550.77}, {'connected_gene': 'STX10', 'score': 11.3}, {'connected_gene': 'IER2', 'score': 11.3}, {'connected_gene': 'ENSG00000279044', 'score': 0.44}, {'connected_gene': 'NFIX', 'score': 0.18}]
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}]