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
ENST00000369849 [[105036919, 105038033], [105046791, 105046916], [105048116, 105050108]] [[105036968, 105038033], [105046791, 105046916], [105048116, 105048426]]
NM_032727 [[105036919, 105038033], [105046791, 105046916], [105048116, 105050108]] [[105036968, 105038033], [105046791, 105046916], [105048116, 105048426]]
Promoter
Chrom Start End Description
chr10 105036887 105036903 CAGE_peak_1_at_INA_5end
chr10 105036909 105036920 CAGE_peak_3_at_INA_5end
chr10 105037220 105037227 CAGE_peak_12_at_INA_5end
chr10 105037392 105037510 CAGE_peak_2_at_INA_5end
chr10 105037529 105037542 CAGE_peak_6_at_INA_5end
chr10 105037579 105037596 CAGE_peak_7_at_INA_5end
chr10 105037601 105037624 CAGE_peak_4_at_INA_5end
chr10 105037641 105037652 CAGE_peak_16_at_INA_5end
chr10 105049488 105049499 CAGE_peak_8_at_INA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I103277 103277024 103277827 1.25 [{'connected_gene': 'INA', 'score': 550.77}, {'connected_gene': 'RPEL1', 'score': 12.5}, {'connected_gene': 'RNU11-3P', 'score': 0.28}, {'connected_gene': 'GC10M103313', 'score': 0.28}]
chr10 GH10I103265 103265804 103265993 0.86 [{'connected_gene': 'INA', 'score': 0.39}, {'connected_gene': 'RPEL1', 'score': 0.34}]
chr10 GH10I103255 103255044 103255273 0.69 [{'connected_gene': 'INA', 'score': 12.66}, {'connected_gene': 'PTGES3P4', 'score': 10.82}, {'connected_gene': 'PFN1P11', 'score': 10.82}, {'connected_gene': 'CYP17A1', 'score': 10.81}, {'connected_gene': 'RPEL1', 'score': 0.44}]
chr10 GH10I103254 103254592 103254889 0.65 [{'connected_gene': 'INA', 'score': 12.66}, {'connected_gene': 'PTGES3P4', 'score': 10.82}, {'connected_gene': 'PFN1P11', 'score': 10.82}, {'connected_gene': 'CYP17A1', 'score': 10.81}, {'connected_gene': 'RPEL1', 'score': 0.44}]
chr10 GH10I103226 103226654 103233678 1.11 [{'connected_gene': 'INA', 'score': 11.36}, {'connected_gene': 'RNU11-3P', 'score': 10.95}, {'connected_gene': 'CNNM2', 'score': 10.86}, {'connected_gene': 'PCGF6', 'score': 10.73}, {'connected_gene': 'PTGES3P4', 'score': 10.17}, {'connected_gene': 'PFN1P11', 'score': 10.17}, {'connected_gene': 'CYP17A1', 'score': 10.17}, {'connected_gene': 'AS3MT', 'score': 10.07}, {'connected_gene': 'BORCS7', 'score': 9.87}, {'connected_gene': 'ST13P13', 'score': 0.39}, {'connected_gene': 'RPEL1', 'score': 0.37}]
chr10 GH10I103281 103281404 103282300 0.9 [{'connected_gene': 'INA', 'score': 0.77}, {'connected_gene': 'RNU11-3P', 'score': 0.29}, {'connected_gene': 'GC10M103313', 'score': 0.29}]
chr10 GH10I103244 103244601 103244933 0.96 [{'connected_gene': 'RPEL1', 'score': 550.77}, {'connected_gene': 'INA', 'score': 11.64}, {'connected_gene': 'RNU11-3P', 'score': 11.05}, {'connected_gene': 'CNNM2', 'score': 11.03}, {'connected_gene': 'CYP17A1', 'score': 10.09}, {'connected_gene': 'MIR1307', 'score': 9.88}, {'connected_gene': 'ATP5MD', 'score': 9.87}, {'connected_gene': 'PDCD11', 'score': 9.87}, {'connected_gene': 'AS3MT', 'score': 9.7}, {'connected_gene': 'PTGES3P4', 'score': 9.69}, {'connected_gene': 'PFN1P11', 'score': 9.69}, {'connected_gene': 'ST13P13', 'score': 0.31}]
chr10 GH10I103245 103245935 103245994 0.5 [{'connected_gene': 'RPEL1', 'score': 550.77}, {'connected_gene': 'INA', 'score': 11.64}, {'connected_gene': 'RNU11-3P', 'score': 11.05}, {'connected_gene': 'CNNM2', 'score': 11.03}, {'connected_gene': 'CYP17A1', 'score': 10.09}, {'connected_gene': 'MIR1307', 'score': 9.88}, {'connected_gene': 'ATP5MD', 'score': 9.87}, {'connected_gene': 'PDCD11', 'score': 9.87}, {'connected_gene': 'AS3MT', 'score': 9.7}, {'connected_gene': 'PTGES3P4', 'score': 9.69}, {'connected_gene': 'PFN1P11', 'score': 9.69}]
chr10 GH10I103246 103246002 103246199 0.2 [{'connected_gene': 'RPEL1', 'score': 550.77}, {'connected_gene': 'INA', 'score': 11.64}, {'connected_gene': 'RNU11-3P', 'score': 11.05}, {'connected_gene': 'CNNM2', 'score': 11.03}, {'connected_gene': 'CYP17A1', 'score': 10.09}, {'connected_gene': 'MIR1307', 'score': 9.88}, {'connected_gene': 'ATP5MD', 'score': 9.87}, {'connected_gene': 'PDCD11', 'score': 9.87}, {'connected_gene': 'AS3MT', 'score': 9.7}, {'connected_gene': 'PTGES3P4', 'score': 9.69}, {'connected_gene': 'PFN1P11', 'score': 9.69}]
chr10 GH10I103207 103207282 103208224 0.38 [{'connected_gene': 'AS3MT', 'score': 13.88}, {'connected_gene': 'INA', 'score': 11.8}, {'connected_gene': 'RPEL1', 'score': 10.33}, {'connected_gene': 'ST13P13', 'score': 0.44}, {'connected_gene': 'NT5C2', 'score': 0.39}]
chr10 GH10I103038 103038526 103042618 0.97 [{'connected_gene': 'AS3MT', 'score': 33.82}, {'connected_gene': 'CNNM2', 'score': 11.44}, {'connected_gene': 'INA', 'score': 10.37}, {'connected_gene': 'RNU11-3P', 'score': 10.24}, {'connected_gene': 'ARL3', 'score': 9.53}, {'connected_gene': 'SFXN2', 'score': 9.53}, {'connected_gene': 'ENSG00000278498', 'score': 0.39}, {'connected_gene': 'PIR62550', 'score': 0.26}]
chr10 GH10I102962 102962933 102966720 0.93 [{'connected_gene': 'AS3MT', 'score': 35.85}, {'connected_gene': 'CNNM2', 'score': 11.11}, {'connected_gene': 'INA', 'score': 10.3}, {'connected_gene': 'RNU11-3P', 'score': 10.18}, {'connected_gene': 'BORCS7', 'score': 10.08}, {'connected_gene': 'MARCKSL1P1', 'score': 4.37}, {'connected_gene': 'GC10M102937', 'score': 0.31}, {'connected_gene': 'GC10P103015', 'score': 0.25}]
chr10 GH10I103069 103069601 103071076 0.98 [{'connected_gene': 'AS3MT', 'score': 35.82}, {'connected_gene': 'BORCS7', 'score': 12.4}, {'connected_gene': 'CNNM2', 'score': 12.04}, {'connected_gene': 'INA', 'score': 10.31}, {'connected_gene': 'RNU11-3P', 'score': 10.12}, {'connected_gene': 'ARL3', 'score': 9.79}, {'connected_gene': 'SFXN2', 'score': 9.79}, {'connected_gene': 'MARCKSL1P1', 'score': 8.29}, {'connected_gene': 'PIR62550', 'score': 0.39}, {'connected_gene': 'ENSG00000278498', 'score': 0.26}]
chr10 GH10I103009 103009672 103009954 0.26 [{'connected_gene': 'CNNM2', 'score': 10.78}, {'connected_gene': 'PTGES3P4', 'score': 10.68}, {'connected_gene': 'PFN1P11', 'score': 10.68}, {'connected_gene': 'CYP17A1', 'score': 10.68}, {'connected_gene': 'RNU11-3P', 'score': 9.86}, {'connected_gene': 'AS3MT', 'score': 8.46}, {'connected_gene': 'MARCKSL1P1', 'score': 7.89}, {'connected_gene': 'INA', 'score': 1.83}, {'connected_gene': 'GC10P103015', 'score': 0.77}, {'connected_gene': 'GC10M102937', 'score': 0.19}]
chr10 GH10I103215 103215332 103216985 0.49 [{'connected_gene': 'ST13P13', 'score': 550.77}, {'connected_gene': 'NT5C2', 'score': 12.72}, {'connected_gene': 'INA', 'score': 11.24}, {'connected_gene': 'RNU11-3P', 'score': 10.35}, {'connected_gene': 'AS3MT', 'score': 5.6}, {'connected_gene': 'RPEL1', 'score': 0.31}]
chr10 GH10I103272 103272584 103273719 0.99 [{'connected_gene': 'BORCS7', 'score': 8.23}, {'connected_gene': 'ARL3', 'score': 5.73}, {'connected_gene': 'CALHM2', 'score': 5.15}, {'connected_gene': 'INA', 'score': 0.77}, {'connected_gene': 'RPEL1', 'score': 0.31}]
chr10 GH10I103237 103237885 103242851 1.46 [{'connected_gene': 'BORCS7', 'score': 19.96}, {'connected_gene': 'NT5C2', 'score': 19.81}, {'connected_gene': 'AS3MT', 'score': 17.47}, {'connected_gene': 'INA', 'score': 11.03}, {'connected_gene': 'CNNM2', 'score': 10.86}, {'connected_gene': 'PFN1P11', 'score': 10.79}, {'connected_gene': 'PTGES3P4', 'score': 10.67}, {'connected_gene': 'CYP17A1', 'score': 10.67}, {'connected_gene': 'RNU11-3P', 'score': 10.52}, {'connected_gene': 'ARL3', 'score': 9.13}, {'connected_gene': 'SFXN2', 'score': 9.13}, {'connected_gene': 'CALHM2', 'score': 7.72}, {'connected_gene': 'RPEL1', 'score': 0.44}, {'connected_gene': 'ST13P13', 'score': 0.34}]
chr10 GH10I103691 103691402 103691832 1.29 [{'connected_gene': 'ENSG00000260461', 'score': 19.79}, {'connected_gene': 'PCGF6', 'score': 18.95}, {'connected_gene': 'SFR1', 'score': 12.58}, {'connected_gene': 'SLK', 'score': 12.14}, {'connected_gene': 'SH3PXD2A', 'score': 11.06}, {'connected_gene': 'NEURL1', 'score': 10.15}, {'connected_gene': 'NEURL1-AS1', 'score': 9.95}, {'connected_gene': 'INA', 'score': 1.62}, {'connected_gene': 'ENSG00000222503', 'score': 0.37}, {'connected_gene': 'GC10M103742', 'score': 0.23}]
chr10 GH10I103121 103121464 103121653 0.85 [{'connected_gene': 'PIR32358', 'score': 550.77}, {'connected_gene': 'AS3MT', 'score': 43.85}, {'connected_gene': 'INA', 'score': 10.51}, {'connected_gene': 'RNU11-3P', 'score': 9.74}, {'connected_gene': 'NEURL1', 'score': 9.08}, {'connected_gene': 'GC10M103094', 'score': 0.34}, {'connected_gene': 'NT5C2', 'score': 0.19}]
chr10 GH10I103284 103284284 103284433 0.69 [{'connected_gene': 'ENSG00000260461', 'score': 11.24}, {'connected_gene': 'CALHM2', 'score': 6.02}, {'connected_gene': 'INA', 'score': 0.44}, {'connected_gene': 'RNU11-3P', 'score': 0.31}, {'connected_gene': 'GC10M103313', 'score': 0.31}]