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
ENST00000601680 [[51328544, 51329204], [51329876, 51330417], [51330917, 51331071], [51334705, 51334748]] None
ENST00000301421 [[51328544, 51329204], [51330133, 51330417], [51330917, 51331071], [51334705, 51334779]] [[51329199, 51329204], [51330133, 51330417], [51330917, 51331071], [51334705, 51334748]]
ENST00000416184 [[51328544, 51329204], [51330251, 51330417], [51330917, 51331071], [51334705, 51334779]] [[51329051, 51329204], [51330251, 51330417], [51330917, 51331071], [51334705, 51334748]]
ENST00000326856 [[51328560, 51329204], [51329876, 51330013], [51330133, 51330417], [51330917, 51331068], [51334705, 51334779], [51340370, 51340469]] [[51329051, 51329204], [51329876, 51330013], [51330133, 51330417], [51330917, 51331068], [51334705, 51334748]]
ENST00000596531 [[51328988, 51330407]] None
ENST00000598239 [[51328998, 51329204], [51329876, 51330013], [51330133, 51330417], [51330917, 51331071], [51334705, 51334779]] [[51329051, 51329204], [51329876, 51330013], [51330133, 51330417], [51330917, 51331071], [51334705, 51334748]]
ENST00000596931 [[51329011, 51329204], [51330133, 51330417], [51330917, 51331068], [51334705, 51334769]] [[51329199, 51329204], [51330133, 51330417], [51330917, 51331068], [51334705, 51334748]]
ENST00000602114 [[51329011, 51329204], [51329876, 51330013], [51330251, 51330417], [51330917, 51331068], [51334705, 51334769]] [[51330010, 51330013], [51330251, 51330417], [51330917, 51331068], [51334705, 51334748]]
ENST00000598673 [[51330283, 51330417], [51330917, 51331068], [51336354, 51336443]] [[51330283, 51330413]]
NM_017509 [[51328544, 51329204], [51329876, 51330013], [51330133, 51330417], [51330917, 51331071], [51334705, 51334779]] [[51329051, 51329204], [51329876, 51330013], [51330133, 51330417], [51330917, 51331071], [51334705, 51334748]]
NM_001277081 [[51328544, 51329204], [51329876, 51330013], [51330133, 51330417], [51330917, 51331068], [51334705, 51334779]] [[51329051, 51329204], [51329876, 51330013], [51330133, 51330417], [51330917, 51331068], [51334705, 51334748]]
NM_001277082 [[51328544, 51329204], [51330133, 51330417], [51330917, 51331068], [51334705, 51334779]] [[51329199, 51329204], [51330133, 51330417], [51330917, 51331068], [51334705, 51334748]]
NR_102274 [[51328544, 51329204], [51329876, 51330013], [51330251, 51330417], [51330917, 51331068], [51334705, 51334779]] None
Promoter
Chrom Start End Description
chr19 51330325 51330342 CAGE_peak_1_at_KLK15_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I050931 50931357 50934289 0.69 [{'connected_gene': 'KLK4', 'score': 12.31}, {'connected_gene': 'KLK6', 'score': 11.71}, {'connected_gene': 'KLK2', 'score': 11.06}, {'connected_gene': 'KLK15', 'score': 11.01}, {'connected_gene': 'KLK1', 'score': 11.0}, {'connected_gene': 'LINC01869', 'score': 10.98}, {'connected_gene': 'C19orf48', 'score': 10.87}, {'connected_gene': 'SNORD88C', 'score': 10.86}, {'connected_gene': 'KLK14', 'score': 10.18}, {'connected_gene': 'CTU1', 'score': 9.72}, {'connected_gene': 'PPIAP59', 'score': 0.77}]
chr19 GH19I050890 50890635 50891670 0.92 [{'connected_gene': 'KLK4', 'score': 13.5}, {'connected_gene': 'LINC01869', 'score': 11.51}, {'connected_gene': 'C19orf48', 'score': 11.5}, {'connected_gene': 'SNORD88C', 'score': 11.5}, {'connected_gene': 'KLK15', 'score': 11.29}, {'connected_gene': 'KLK1', 'score': 11.26}, {'connected_gene': 'KLKP1', 'score': 0.44}, {'connected_gene': 'KLK2', 'score': 0.31}]
chr19 GH19I050889 50889085 50890093 0.31 [{'connected_gene': 'KLK4', 'score': 23.74}, {'connected_gene': 'LINC01869', 'score': 11.51}, {'connected_gene': 'C19orf48', 'score': 11.51}, {'connected_gene': 'SNORD88C', 'score': 11.5}, {'connected_gene': 'KLK15', 'score': 11.23}, {'connected_gene': 'KLK1', 'score': 11.2}, {'connected_gene': 'LOC400710', 'score': 5.75}, {'connected_gene': 'KLKP1', 'score': 0.44}, {'connected_gene': 'KLK2', 'score': 0.31}]
chr19 GH19I050591 50591684 50591833 0.2 [{'connected_gene': 'LRRC4B', 'score': 12.39}, {'connected_gene': 'LINC01869', 'score': 10.5}, {'connected_gene': 'KLK1', 'score': 10.49}, {'connected_gene': 'KLK15', 'score': 10.49}, {'connected_gene': 'SNAR-F', 'score': 0.39}]
chr19 GH19I050843 50843016 50845166 0.65 [{'connected_gene': 'ZNF175', 'score': 16.29}, {'connected_gene': 'KLK1', 'score': 11.88}, {'connected_gene': 'LINC01869', 'score': 11.82}, {'connected_gene': 'SNORD88C', 'score': 11.69}, {'connected_gene': 'SNORD88A', 'score': 11.69}, {'connected_gene': 'SNORD88B', 'score': 11.69}, {'connected_gene': 'C19orf48', 'score': 11.38}, {'connected_gene': 'CLEC11A', 'score': 10.37}, {'connected_gene': 'KLK14', 'score': 9.65}, {'connected_gene': 'KLK3', 'score': 5.94}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'LOC105372441', 'score': 0.39}]
chr19 GH19I050846 50846285 50847142 0.2 [{'connected_gene': 'SNORD88C', 'score': 11.69}, {'connected_gene': 'SNORD88A', 'score': 11.68}, {'connected_gene': 'SNORD88B', 'score': 11.68}, {'connected_gene': 'LINC01869', 'score': 11.59}, {'connected_gene': 'C19orf48', 'score': 11.57}, {'connected_gene': 'KLK1', 'score': 11.52}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.44}, {'connected_gene': 'LOC105372441', 'score': 0.37}]
chr19 GH19I050887 50887306 50888225 0.2 [{'connected_gene': 'SNORD88C', 'score': 11.75}, {'connected_gene': 'LINC01869', 'score': 11.55}, {'connected_gene': 'C19orf48', 'score': 11.54}, {'connected_gene': 'KLK4', 'score': 11.52}, {'connected_gene': 'KLK15', 'score': 11.23}, {'connected_gene': 'KLK1', 'score': 11.21}, {'connected_gene': 'SIGLEC5', 'score': 8.62}, {'connected_gene': 'SIGLEC14', 'score': 8.62}, {'connected_gene': 'RPL7P51', 'score': 8.62}, {'connected_gene': 'KLKP1', 'score': 8.12}, {'connected_gene': 'KLK2', 'score': 0.31}]
chr19 GH19I050841 50841843 50842743 0.38 [{'connected_gene': 'SNORD88C', 'score': 11.71}, {'connected_gene': 'LINC01869', 'score': 11.4}, {'connected_gene': 'C19orf48', 'score': 11.38}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.39}, {'connected_gene': 'LOC105372441', 'score': 0.39}]
chr19 GH19I050720 50720488 50726224 2.32 [{'connected_gene': 'CLEC11A', 'score': 570.56}, {'connected_gene': 'C19orf48', 'score': 12.17}, {'connected_gene': 'GPR32', 'score': 12.16}, {'connected_gene': 'AKT1S1', 'score': 11.24}, {'connected_gene': 'SNORD88A', 'score': 10.93}, {'connected_gene': 'SNORD88C', 'score': 10.93}, {'connected_gene': 'SNORD88B', 'score': 10.93}, {'connected_gene': 'LINC01869', 'score': 10.7}, {'connected_gene': 'NUP62', 'score': 10.4}, {'connected_gene': 'KLK1', 'score': 10.36}, {'connected_gene': 'KLK15', 'score': 10.35}, {'connected_gene': 'EMC10', 'score': 5.82}, {'connected_gene': 'KLK8', 'score': 4.82}, {'connected_gene': 'SHANK1', 'score': 4.19}, {'connected_gene': 'GPR32P1', 'score': 0.29}]
chr19 GH19I050896 50896196 50898005 1.2 [{'connected_gene': 'KLKP1', 'score': 550.77}, {'connected_gene': 'ZNF175', 'score': 34.98}, {'connected_gene': 'ZNF577', 'score': 21.13}, {'connected_gene': 'NUP62', 'score': 13.06}, {'connected_gene': 'KLK2', 'score': 11.64}, {'connected_gene': 'LINC01869', 'score': 11.51}, {'connected_gene': 'KLK15', 'score': 11.46}, {'connected_gene': 'KLK1', 'score': 11.43}, {'connected_gene': 'KLK11', 'score': 9.96}, {'connected_gene': 'POLD1', 'score': 9.78}, {'connected_gene': 'CTU1', 'score': 9.61}, {'connected_gene': 'KLK4', 'score': 8.92}, {'connected_gene': 'GC19M050909', 'score': 0.39}]
chr19 GH19I050835 50835401 50837092 1.65 [{'connected_gene': 'KLK15', 'score': 550.77}, {'connected_gene': 'ZNF175', 'score': 20.6}, {'connected_gene': 'NUP62', 'score': 13.06}, {'connected_gene': 'PTOV1-AS2', 'score': 12.64}, {'connected_gene': 'LINC01869', 'score': 11.85}, {'connected_gene': 'C19orf48', 'score': 11.84}, {'connected_gene': 'SNORD88C', 'score': 11.84}, {'connected_gene': 'KLK2', 'score': 11.32}, {'connected_gene': 'SNORD88A', 'score': 11.11}, {'connected_gene': 'SNORD88B', 'score': 11.11}, {'connected_gene': 'PNKP', 'score': 10.37}, {'connected_gene': 'KLK3', 'score': 9.98}, {'connected_gene': 'POLD1', 'score': 9.79}, {'connected_gene': 'SYT3', 'score': 2.85}, {'connected_gene': 'LRRC4B', 'score': 2.49}, {'connected_gene': 'KLK14', 'score': 1.65}, {'connected_gene': 'IGLON5', 'score': 1.15}, {'connected_gene': 'LOC105372441', 'score': 0.44}]
chr19 GH19I050838 50838075 50839688 0.6 [{'connected_gene': 'KLK15', 'score': 555.49}, {'connected_gene': 'KLK2', 'score': 17.12}, {'connected_gene': 'LINC01869', 'score': 11.84}, {'connected_gene': 'C19orf48', 'score': 11.84}, {'connected_gene': 'SNORD88C', 'score': 11.82}, {'connected_gene': 'SNORD88A', 'score': 11.45}, {'connected_gene': 'SNORD88B', 'score': 11.45}, {'connected_gene': 'IL4I1', 'score': 5.6}, {'connected_gene': 'ASPDH', 'score': 4.42}, {'connected_gene': 'LOC105372441', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.37}]
chr19 GH19I050837 50837209 50837886 0.63 [{'connected_gene': 'KLK15', 'score': 550.77}, {'connected_gene': 'KLK2', 'score': 15.93}, {'connected_gene': 'LINC01869', 'score': 11.85}, {'connected_gene': 'C19orf48', 'score': 11.84}, {'connected_gene': 'SNORD88C', 'score': 11.82}, {'connected_gene': 'SNORD88A', 'score': 11.11}, {'connected_gene': 'SNORD88B', 'score': 11.11}, {'connected_gene': 'LOC105372441', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.37}]
chr19 GH19I050537 50537824 50537933 1.1 [{'connected_gene': 'ASPDH', 'score': 12.26}, {'connected_gene': 'JOSD2', 'score': 12.23}, {'connected_gene': 'LRRC4B', 'score': 11.99}, {'connected_gene': 'GPR32', 'score': 11.64}, {'connected_gene': 'SNORD88A', 'score': 11.09}, {'connected_gene': 'SNORD88C', 'score': 11.09}, {'connected_gene': 'SNORD88B', 'score': 11.09}, {'connected_gene': 'NAPSA', 'score': 10.66}, {'connected_gene': 'NR1H2', 'score': 10.64}, {'connected_gene': 'C19orf48', 'score': 10.44}, {'connected_gene': 'LINC01869', 'score': 10.44}, {'connected_gene': 'KLK4', 'score': 10.24}, {'connected_gene': 'KLK1', 'score': 10.22}, {'connected_gene': 'KLK15', 'score': 10.21}, {'connected_gene': 'KLK2', 'score': 10.0}, {'connected_gene': 'KLK14', 'score': 9.54}, {'connected_gene': 'ENSG00000268231', 'score': 0.34}]
chr19 GH19I050538 50537079 50537797 0.85 [{'connected_gene': 'ASPDH', 'score': 12.26}, {'connected_gene': 'JOSD2', 'score': 12.23}, {'connected_gene': 'LRRC4B', 'score': 11.99}, {'connected_gene': 'GPR32', 'score': 11.64}, {'connected_gene': 'SNORD88A', 'score': 11.09}, {'connected_gene': 'SNORD88C', 'score': 11.09}, {'connected_gene': 'SNORD88B', 'score': 11.09}, {'connected_gene': 'NAPSA', 'score': 10.66}, {'connected_gene': 'NR1H2', 'score': 10.64}, {'connected_gene': 'C19orf48', 'score': 10.44}, {'connected_gene': 'LINC01869', 'score': 10.44}, {'connected_gene': 'KLK4', 'score': 10.24}, {'connected_gene': 'KLK1', 'score': 10.22}, {'connected_gene': 'KLK15', 'score': 10.21}, {'connected_gene': 'KLK2', 'score': 10.0}, {'connected_gene': 'KLK14', 'score': 9.54}, {'connected_gene': 'ENSG00000268231', 'score': 0.34}]
chr19 GH19I050840 50840948 50841766 0.31 [{'connected_gene': 'POLD1', 'score': 16.01}, {'connected_gene': 'NUP62', 'score': 13.69}, {'connected_gene': 'PTOV1-AS2', 'score': 13.38}, {'connected_gene': 'KLK2', 'score': 11.94}, {'connected_gene': 'SNORD88C', 'score': 11.71}, {'connected_gene': 'LINC01869', 'score': 11.55}, {'connected_gene': 'C19orf48', 'score': 11.53}, {'connected_gene': 'KLK15', 'score': 0.77}, {'connected_gene': 'KLK3', 'score': 0.39}, {'connected_gene': 'LOC105372441', 'score': 0.39}]
chr19 GH19I050854 50854866 50854925 0.7 [{'connected_gene': 'KLK3', 'score': 550.77}, {'connected_gene': 'KLK1', 'score': 11.67}, {'connected_gene': 'LINC01869', 'score': 11.62}, {'connected_gene': 'C19orf48', 'score': 10.82}, {'connected_gene': 'SNORD88C', 'score': 10.8}, {'connected_gene': 'SNORD88A', 'score': 9.97}, {'connected_gene': 'SNORD88B', 'score': 9.97}, {'connected_gene': 'KLK15', 'score': 0.37}]
chr19 GH19I050849 50849506 50852855 0.56 [{'connected_gene': 'KLK2', 'score': 10.21}, {'connected_gene': 'KLK4', 'score': 5.32}, {'connected_gene': 'KLK3', 'score': 0.77}, {'connected_gene': 'KLK15', 'score': 0.39}, {'connected_gene': 'LOC105372441', 'score': 0.34}]
chr19 GH19I050861 50861215 50863251 0.31 [{'connected_gene': 'KLK2', 'score': 558.69}, {'connected_gene': 'GC19P050860', 'score': 550.77}, {'connected_gene': 'KLK15', 'score': 11.8}, {'connected_gene': 'KLK1', 'score': 11.77}, {'connected_gene': 'LINC01869', 'score': 11.72}, {'connected_gene': 'KLK4', 'score': 11.17}, {'connected_gene': 'C19orf48', 'score': 10.97}, {'connected_gene': 'SNORD88C', 'score': 10.97}, {'connected_gene': 'SNORD88A', 'score': 9.96}, {'connected_gene': 'SNORD88B', 'score': 9.96}, {'connected_gene': 'KLK5', 'score': 5.87}, {'connected_gene': 'KLK3', 'score': 0.44}, {'connected_gene': 'KLKP1', 'score': 0.29}]
chr19 GH19I050845 50845195 50846237 0.2 [{'connected_gene': 'KLK1', 'score': 11.88}, {'connected_gene': 'LINC01869', 'score': 11.82}, {'connected_gene': 'SNORD88C', 'score': 11.69}, {'connected_gene': 'SNORD88A', 'score': 11.68}, {'connected_gene': 'SNORD88B', 'score': 11.68}, {'connected_gene': 'C19orf48', 'score': 11.57}, {'connected_gene': 'CLEC11A', 'score': 10.37}, {'connected_gene': 'KLK15', 'score': 0.44}, {'connected_gene': 'KLK3', 'score': 0.44}, {'connected_gene': 'LOC105372441', 'score': 0.37}]
chr19 GH19I050727 50727830 50729133 1.11 [{'connected_gene': 'GPR32', 'score': 12.18}, {'connected_gene': 'SNORD88A', 'score': 10.94}, {'connected_gene': 'SNORD88C', 'score': 10.94}, {'connected_gene': 'SNORD88B', 'score': 10.94}, {'connected_gene': 'C19orf48', 'score': 10.71}, {'connected_gene': 'LINC01869', 'score': 10.71}, {'connected_gene': 'KLK1', 'score': 10.37}, {'connected_gene': 'KLK15', 'score': 10.36}, {'connected_gene': 'FUZ', 'score': 5.51}, {'connected_gene': 'CLEC11A', 'score': 0.44}, {'connected_gene': 'GPR32P1', 'score': 0.31}]
chr19 GH19I050535 50535864 50536013 0.58 [{'connected_gene': 'JOSD2', 'score': 12.26}, {'connected_gene': 'ASPDH', 'score': 12.26}, {'connected_gene': 'LRRC4B', 'score': 11.99}, {'connected_gene': 'GPR32', 'score': 11.64}, {'connected_gene': 'SNORD88A', 'score': 11.09}, {'connected_gene': 'SNORD88B', 'score': 11.09}, {'connected_gene': 'SNORD88C', 'score': 11.09}, {'connected_gene': 'NAPSA', 'score': 10.66}, {'connected_gene': 'NR1H2', 'score': 10.64}, {'connected_gene': 'C19orf48', 'score': 10.44}, {'connected_gene': 'LINC01869', 'score': 10.44}, {'connected_gene': 'KLK4', 'score': 10.24}, {'connected_gene': 'KLK1', 'score': 10.22}, {'connected_gene': 'KLK15', 'score': 10.21}, {'connected_gene': 'KLK2', 'score': 10.0}, {'connected_gene': 'KLK14', 'score': 9.54}, {'connected_gene': 'ENSG00000268231', 'score': 0.34}]
chr19 GH19I050857 50857078 50860720 0.54 [{'connected_gene': 'GC19P050860', 'score': 550.77}, {'connected_gene': 'POLD1', 'score': 12.3}, {'connected_gene': 'KLK15', 'score': 11.71}, {'connected_gene': 'KLK1', 'score': 11.65}, {'connected_gene': 'LINC01869', 'score': 11.61}, {'connected_gene': 'NUP62', 'score': 11.33}, {'connected_gene': 'C19orf48', 'score': 10.8}, {'connected_gene': 'SNORD88C', 'score': 10.79}, {'connected_gene': 'SNORD88A', 'score': 9.97}, {'connected_gene': 'SNORD88B', 'score': 9.97}, {'connected_gene': 'KLK2', 'score': 9.29}, {'connected_gene': 'KLK3', 'score': 5.27}]

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