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
ENST00000324041 [[51409607, 51410342], [51411614, 51411751], [51411834, 51412085], [51412507, 51412670], [51413933, 51413994]] [[51410189, 51410342], [51411614, 51411751], [51411834, 51412085], [51412507, 51412670], [51413933, 51413994]]
ENST00000597441 [[51409608, 51409808], [51410017, 51410076]] None
ENST00000598305 [[51410130, 51410342], [51411614, 51411747], [51411834, 51412085], [51412495, 51412651], [51413933, 51413994]] [[51411721, 51411747], [51411834, 51412024]]
ENST00000593885 [[51410159, 51410342], [51411614, 51411747], [51411834, 51412085], [51412268, 51412392]] [[51411721, 51411747], [51411834, 51412024]]
ENST00000431178 [[51410189, 51410342], [51411834, 51412085], [51412507, 51412584]] [[51410337, 51410342], [51411834, 51412085], [51412507, 51412584]]
ENST00000599865 [[51410189, 51410342], [51411614, 51412085], [51412507, 51412584]] None
ENST00000602148 [[51410189, 51410342], [51411614, 51411751], [51411834, 51412085], [51412495, 51412670], [51413933, 51413994]] [[51412503, 51412670], [51413933, 51413994]]
ENST00000596876 [[51411245, 51412085], [51412495, 51412638]] None
NM_001302961 [[51409607, 51410342], [51411614, 51411751], [51411834, 51412085], [51412495, 51412670], [51413933, 51413994]] [[51410189, 51410342], [51411614, 51411751], [51411834, 51412024]]
NM_004917 [[51409607, 51410342], [51411614, 51411751], [51411834, 51412085], [51412507, 51412670], [51413933, 51413994]] [[51410189, 51410342], [51411614, 51411751], [51411834, 51412085], [51412507, 51412670], [51413933, 51413994]]
NR_126566 [[51409607, 51410342], [51411614, 51411747], [51411834, 51412085], [51412495, 51412651], [51413933, 51413994]] None
Promoter
Chrom Start End Description
chr19 51412411 51412426 CAGE_peak_4_at_KLK4_5end
chr19 51412603 51412620 CAGE_peak_2_at_KLK4_5end
chr19 51412626 51412645 CAGE_peak_1_at_KLK4_5end
chr19 51412658 51412666 CAGE_peak_3_at_KLK4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I050885 50885236 50885872 0.49 [{'connected_gene': 'KLK4', 'score': 12.25}, {'connected_gene': 'SNORD88C', 'score': 11.76}, {'connected_gene': 'LINC01869', 'score': 11.55}, {'connected_gene': 'C19orf48', 'score': 11.54}, {'connected_gene': 'KLKP1', 'score': 0.39}, {'connected_gene': 'KLK2', 'score': 0.34}]
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 GH19I050909 50909405 50909654 0.57 [{'connected_gene': 'KLK4', 'score': 555.54}, {'connected_gene': 'GC19M050909', 'score': 550.77}]
chr19 GH19I050910 50909865 50909934 0.38 [{'connected_gene': 'KLK4', 'score': 550.77}, {'connected_gene': 'GC19M050909', 'score': 550.77}]
chr19 GH19I050874 50874592 50879292 0.87 [{'connected_gene': 'C19orf48', 'score': 21.45}, {'connected_gene': 'KLK4', 'score': 12.64}, {'connected_gene': 'POLD1', 'score': 12.3}, {'connected_gene': 'SNORD88C', 'score': 11.78}, {'connected_gene': 'LINC01869', 'score': 11.57}, {'connected_gene': 'NUP62', 'score': 11.32}, {'connected_gene': 'KLKP1', 'score': 7.96}, {'connected_gene': 'KLK2', 'score': 5.53}, {'connected_gene': 'KLK3', 'score': 0.34}]
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 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 GH19I050929 50929945 50930094 0.78 [{'connected_gene': 'KLK6', 'score': 11.71}, {'connected_gene': 'KLK2', 'score': 11.07}, {'connected_gene': 'C19orf48', 'score': 10.87}, {'connected_gene': 'SNORD88C', 'score': 10.87}, {'connected_gene': 'LINC01869', 'score': 10.87}, {'connected_gene': 'CTU1', 'score': 9.72}, {'connected_gene': 'PPIAP59', 'score': 0.44}, {'connected_gene': 'KLK4', 'score': 0.37}]
chr19 GH19I050507 50507027 50507261 0.51 [{'connected_gene': 'ASPDH', 'score': 6.17}, {'connected_gene': 'KLKP1', 'score': 4.87}, {'connected_gene': 'C19orf81', 'score': 3.63}, {'connected_gene': 'KLK4', 'score': 3.47}, {'connected_gene': 'ACP4', 'score': 1.5}, {'connected_gene': 'SHANK1', 'score': 1.46}, {'connected_gene': 'SYT3', 'score': 1.27}, {'connected_gene': 'JOSD2', 'score': 0.77}, {'connected_gene': 'LOC100506114', 'score': 0.37}]
chr19 GH19I050445 50445020 50445350 0.22 [{'connected_gene': 'ASPDH', 'score': 6.4}, {'connected_gene': 'C19orf81', 'score': 2.82}, {'connected_gene': 'KLK4', 'score': 2.07}, {'connected_gene': 'MYBPC2', 'score': 0.39}, {'connected_gene': 'EMC10', 'score': 0.29}]
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 GH19I050663 50663741 50664139 0.55 [{'connected_gene': 'KLK14', 'score': 2.28}, {'connected_gene': 'SYT3', 'score': 2.18}, {'connected_gene': 'KLK6', 'score': 2.06}, {'connected_gene': 'C19orf81', 'score': 1.96}, {'connected_gene': 'KLK4', 'score': 1.57}, {'connected_gene': 'PIR41386', 'score': 0.28}, {'connected_gene': 'SHANK1', 'score': 0.22}]
chr19 GH19I050922 50922345 50922514 0.74 [{'connected_gene': 'PPIAP59', 'score': 0.39}, {'connected_gene': 'KLK4', 'score': 0.39}]
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 GH19I050648 50648142 50648338 0.57 [{'connected_gene': 'C19orf81', 'score': 4.61}, {'connected_gene': 'KLK4', 'score': 4.16}, {'connected_gene': 'KLK14', 'score': 1.96}, {'connected_gene': 'KCNC3', 'score': 1.84}, {'connected_gene': 'SYT3', 'score': 1.65}, {'connected_gene': 'ACP4', 'score': 1.32}, {'connected_gene': 'GC19M050639', 'score': 0.44}]
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 GH19I050962 50962245 50962532 0.51 [{'connected_gene': 'LOC105372442', 'score': 550.77}, {'connected_gene': 'ENSG00000279676', 'score': 550.77}, {'connected_gene': 'KLK4', 'score': 14.92}, {'connected_gene': 'SIGLECL1', 'score': 10.52}, {'connected_gene': 'C19orf81', 'score': 9.79}, {'connected_gene': 'KLK14', 'score': 7.6}, {'connected_gene': 'ACP4', 'score': 4.15}, {'connected_gene': 'IGLON5', 'score': 2.1}, {'connected_gene': 'ETFB', 'score': 2.05}, {'connected_gene': 'SYT3', 'score': 1.85}, {'connected_gene': 'KLK6', 'score': 0.44}, {'connected_gene': 'KLK5', 'score': 0.44}, {'connected_gene': 'ENSG00000269495', 'score': 0.39}]
chr19 GH19I050555 50555557 50557526 1.61 [{'connected_gene': 'ENSG00000268231', 'score': 550.77}, {'connected_gene': 'ASPDH', 'score': 16.45}, {'connected_gene': 'JOSD2', 'score': 11.79}, {'connected_gene': 'PTOV1', 'score': 10.58}, {'connected_gene': 'LINC01869', 'score': 9.99}, {'connected_gene': 'C19orf48', 'score': 9.99}, {'connected_gene': 'SNORD88C', 'score': 9.99}, {'connected_gene': 'KLK4', 'score': 5.14}, {'connected_gene': 'C19orf81', 'score': 5.08}, {'connected_gene': 'SYT3', 'score': 2.81}, {'connected_gene': 'ACP4', 'score': 2.29}, {'connected_gene': 'LRRC4B', 'score': 1.67}, {'connected_gene': 'KLK6', 'score': 1.45}]

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