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
ENST00000221480 [[7541760, 7542322], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7553836, 7553905]] [[7542087, 7542322], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7553836, 7553896]]
ENST00000593942 [[7541761, 7542322], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7554233, 7554398], [7555867, 7556008], [7562288, 7562335]] [[7542087, 7542322], [7543199, 7543262], [7546918, 7547097], [7550723, 7550762]]
ENST00000599519 [[7541779, 7542322], [7543199, 7543262], [7546918, 7547097], [7548147, 7548198]] None
ENST00000593547 [[7541786, 7542139], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7553836, 7553858]] [[7542087, 7542139], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7553836, 7553858]]
NM_080662 [[7541755, 7542322], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7553836, 7553924]] [[7542087, 7542322], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7553836, 7553896]]
NM_001270539 [[7541755, 7542139], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7553836, 7553924]] [[7542087, 7542139], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7553836, 7553896]]
NM_001300881 [[7541760, 7542322], [7543199, 7543262], [7546918, 7547097], [7550723, 7550912], [7554233, 7554286]] [[7542087, 7542322], [7543199, 7543262], [7546918, 7547097], [7550723, 7550762]]
Promoter
Chrom Start End Description
chr19 7553852 7553874 CAGE_peak_2_at_PEX11G_5end
chr19 7553889 7553929 CAGE_peak_1_at_PEX11G_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I007407 7407480 7407813 0.43 [{'connected_gene': 'PEX11G', 'score': 11.4}, {'connected_gene': 'TEX45', 'score': 11.4}, {'connected_gene': 'ENSG00000267852', 'score': 0.39}, {'connected_gene': 'ENSG00000268861', 'score': 0.34}, {'connected_gene': 'GC19P007434', 'score': 0.31}, {'connected_gene': 'ARHGEF18', 'score': 0.22}]
chr19 GH19I007498 7498755 7498893 0.33 [{'connected_gene': 'PEX11G', 'score': 550.77}, {'connected_gene': 'TEX45', 'score': 79.72}, {'connected_gene': 'PCP2', 'score': 48.15}, {'connected_gene': 'PNPLA6', 'score': 3.72}, {'connected_gene': 'EVI5L', 'score': 1.3}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}]
chr19 GH19I007486 7486037 7486096 0.5 [{'connected_gene': 'PEX11G', 'score': 550.39}, {'connected_gene': 'TEX45', 'score': 0.44}, {'connected_gene': 'LOC100128573', 'score': 0.39}]
chr19 GH19I007487 7487973 7490246 1.97 [{'connected_gene': 'PEX11G', 'score': 574.19}, {'connected_gene': 'TEX45', 'score': 0.77}, {'connected_gene': 'LOC100128573', 'score': 0.37}]
chr19 GH19I007497 7497510 7497569 0.76 [{'connected_gene': 'PEX11G', 'score': 550.77}, {'connected_gene': 'TEX45', 'score': 550.77}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}]
chr19 GH19I007499 7497440 7497499 0.76 [{'connected_gene': 'PEX11G', 'score': 550.77}, {'connected_gene': 'TEX45', 'score': 0.77}]
chr19 GH19I007482 7482367 7484552 1.22 [{'connected_gene': 'PEX11G', 'score': 49.33}, {'connected_gene': 'ARHGEF18', 'score': 7.59}, {'connected_gene': 'MCOLN1', 'score': 5.81}, {'connected_gene': 'EVI5L', 'score': 2.3}, {'connected_gene': 'STXBP2', 'score': 1.98}, {'connected_gene': 'PNPLA6', 'score': 1.94}, {'connected_gene': 'CD209', 'score': 1.53}, {'connected_gene': 'TEX45', 'score': 0.44}, {'connected_gene': 'LOC100128573', 'score': 0.39}]
chr19 GH19I007440 7440229 7441141 0.31 [{'connected_gene': 'PEX11G', 'score': 16.78}, {'connected_gene': 'ARHGEF18', 'score': 12.11}, {'connected_gene': 'TEX45', 'score': 11.78}, {'connected_gene': 'GC19M007438', 'score': 0.77}, {'connected_gene': 'GC19P007442', 'score': 0.77}, {'connected_gene': 'ENSG00000268861', 'score': 0.22}]
chr19 GH19I007459 7459670 7462544 0.75 [{'connected_gene': 'PEX11G', 'score': 6.14}, {'connected_gene': 'GC19P007466', 'score': 0.77}, {'connected_gene': 'PIR39674', 'score': 0.77}, {'connected_gene': 'GC19M007445', 'score': 0.39}, {'connected_gene': 'ENSG00000268861', 'score': 0.18}, {'connected_gene': 'ARHGEF18', 'score': 0.14}]
chr19 GH19I007525 7525423 7529175 0.59 [{'connected_gene': 'PEX11G', 'score': 6.93}, {'connected_gene': 'LOC105372261', 'score': 0.77}, {'connected_gene': 'MCOLN1', 'score': 0.77}, {'connected_gene': 'ENSG00000268614', 'score': 0.44}]
chr19 GH19I007479 7479100 7481804 0.89 [{'connected_gene': 'PEX11G', 'score': 40.14}, {'connected_gene': 'LOC100128573', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.39}]
chr19 GH19I007521 7521845 7523869 2.57 [{'connected_gene': 'MCOLN1', 'score': 553.45}, {'connected_gene': 'GC19M007510', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 80.55}, {'connected_gene': 'ELAVL1', 'score': 73.1}, {'connected_gene': 'XAB2', 'score': 51.63}, {'connected_gene': 'ZNF557', 'score': 34.69}, {'connected_gene': 'MAP2K7', 'score': 28.57}, {'connected_gene': 'ZNF414', 'score': 19.85}, {'connected_gene': 'TIMM44', 'score': 11.63}, {'connected_gene': 'SNAPC2', 'score': 11.12}, {'connected_gene': 'GPR108', 'score': 10.31}, {'connected_gene': 'CD209', 'score': 10.17}, {'connected_gene': 'EVI5L', 'score': 10.08}, {'connected_gene': 'PEX11G', 'score': 7.01}, {'connected_gene': 'LOC105372261', 'score': 0.77}]
chr19 GH19I007543 7543145 7546307 1.22 [{'connected_gene': 'MCOLN1', 'score': 14.42}, {'connected_gene': 'MCEMP1', 'score': 10.79}, {'connected_gene': 'PEX11G', 'score': 10.26}, {'connected_gene': 'PNPLA6', 'score': 9.95}, {'connected_gene': 'STXBP2', 'score': 9.14}, {'connected_gene': 'RETN', 'score': 1.48}, {'connected_gene': 'GC19M007532', 'score': 0.44}, {'connected_gene': 'CAMSAP3', 'score': 0.23}]
chr19 GH19I007656 7656755 7659254 1.2 [{'connected_gene': 'XAB2', 'score': 14.19}, {'connected_gene': 'PCP2', 'score': 13.72}, {'connected_gene': 'STXBP2', 'score': 4.01}, {'connected_gene': 'MCEMP1', 'score': 3.39}, {'connected_gene': 'MCOLN1', 'score': 1.9}, {'connected_gene': 'PEX11G', 'score': 1.82}, {'connected_gene': 'RPS27AP19', 'score': 0.44}, {'connected_gene': 'ENSG00000268204', 'score': 0.34}]
chr19 GH19I007493 7493489 7495694 1.15 [{'connected_gene': 'TEX45', 'score': 550.77}, {'connected_gene': 'PEX11G', 'score': 32.31}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'HNRNPM', 'score': 10.28}]
chr19 GH19I007397 7397375 7400083 1.1 [{'connected_gene': 'TEX45', 'score': 11.22}, {'connected_gene': 'PEX11G', 'score': 11.21}, {'connected_gene': 'NDUFA7', 'score': 4.55}, {'connected_gene': 'ENSG00000267852', 'score': 0.77}, {'connected_gene': 'ENSG00000268861', 'score': 0.37}, {'connected_gene': 'GC19P007434', 'score': 0.28}, {'connected_gene': 'ARHGEF18', 'score': 0.25}]
chr19 GH19I007491 7491802 7493399 0.86 [{'connected_gene': 'TEX45', 'score': 550.77}, {'connected_gene': 'PEX11G', 'score': 41.01}, {'connected_gene': 'HNRNPM', 'score': 10.28}, {'connected_gene': 'LOC100128573', 'score': 0.37}]
chr19 GH19I007410 7410081 7410366 0.49 [{'connected_gene': 'TEX45', 'score': 11.41}, {'connected_gene': 'PEX11G', 'score': 11.4}, {'connected_gene': 'ENSG00000267852', 'score': 0.37}, {'connected_gene': 'GC19P007434', 'score': 0.34}, {'connected_gene': 'ENSG00000268861', 'score': 0.31}, {'connected_gene': 'ARHGEF18', 'score': 0.21}]
chr19 GH19I007188 7188226 7189839 1.06 [{'connected_gene': 'ARHGEF18', 'score': 10.84}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'RETN', 'score': 4.95}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19 GH19I007187 7187970 7188119 0.66 [{'connected_gene': 'ARHGEF18', 'score': 10.83}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19 GH19I007372 7372468 7372947 0.38 [{'connected_gene': 'ARHGEF18', 'score': 19.92}, {'connected_gene': 'CAMSAP3', 'score': 10.97}, {'connected_gene': 'STXBP2', 'score': 2.46}, {'connected_gene': 'EVI5L', 'score': 2.41}, {'connected_gene': 'ZNF557', 'score': 1.47}, {'connected_gene': 'PEX11G', 'score': 1.32}, {'connected_gene': 'PNPLA6', 'score': 1.2}, {'connected_gene': 'GC19P007378', 'score': 0.44}, {'connected_gene': 'ENSG00000263264', 'score': 0.34}]
chr19 GH19I007185 7185857 7187056 0.74 [{'connected_gene': 'ARHGEF18', 'score': 10.83}, {'connected_gene': 'TEX45', 'score': 10.21}, {'connected_gene': 'PEX11G', 'score': 10.21}, {'connected_gene': 'CAMSAP3', 'score': 10.05}, {'connected_gene': 'GC19P007214', 'score': 0.31}, {'connected_gene': 'GC19P007151', 'score': 0.28}, {'connected_gene': 'INSR', 'score': 0.14}]
chr19 GH19I007424 7424400 7427654 0.69 [{'connected_gene': 'ARHGEF18', 'score': 18.15}, {'connected_gene': 'TEX45', 'score': 17.52}, {'connected_gene': 'PEX11G', 'score': 16.88}, {'connected_gene': 'CAMSAP3', 'score': 10.6}, {'connected_gene': 'GC19P007434', 'score': 0.44}, {'connected_gene': 'ENSG00000267852', 'score': 0.29}, {'connected_gene': 'ENSG00000268861', 'score': 0.26}]
chr19 GH19I007427 7427750 7429468 0.43 [{'connected_gene': 'ARHGEF18', 'score': 17.79}, {'connected_gene': 'TEX45', 'score': 12.38}, {'connected_gene': 'PEX11G', 'score': 12.37}, {'connected_gene': 'CAMSAP3', 'score': 10.6}, {'connected_gene': 'GC19P007434', 'score': 0.44}, {'connected_gene': 'ENSG00000267852', 'score': 0.29}, {'connected_gene': 'ENSG00000268861', 'score': 0.25}]
chr19 GH19I007439 7439709 7439768 0.5 [{'connected_gene': 'ARHGEF18', 'score': 562.11}, {'connected_gene': 'GC19M007438', 'score': 550.77}, {'connected_gene': 'TEX45', 'score': 11.78}, {'connected_gene': 'PEX11G', 'score': 11.77}, {'connected_gene': 'GC19P007442', 'score': 0.77}, {'connected_gene': 'ENSG00000268861', 'score': 0.22}]
chr19 GH19I007700 7700966 7708009 2.08 [{'connected_gene': 'FCER2', 'score': 567.12}, {'connected_gene': 'STXBP2', 'score': 17.49}, {'connected_gene': 'ELAVL1', 'score': 14.53}, {'connected_gene': 'HNRNPM', 'score': 13.56}, {'connected_gene': 'XAB2', 'score': 12.91}, {'connected_gene': 'PEX11G', 'score': 12.81}, {'connected_gene': 'MAP2K7', 'score': 12.54}, {'connected_gene': 'CD209', 'score': 12.41}, {'connected_gene': 'CLEC4G', 'score': 12.41}, {'connected_gene': 'RPL21P129', 'score': 12.4}, {'connected_gene': 'MCEMP1', 'score': 10.33}, {'connected_gene': 'MCOLN1', 'score': 10.02}, {'connected_gene': 'PNPLA6', 'score': 5.73}, {'connected_gene': 'RAB11B-AS1', 'score': 5.45}, {'connected_gene': 'ARHGEF18', 'score': 4.88}, {'connected_gene': 'RETN', 'score': 1.51}, {'connected_gene': 'LOC105372262', 'score': 0.77}, {'connected_gene': 'GC19P007703', 'score': 0.44}]
chr19 GH19I007655 7655202 7656665 0.91 [{'connected_gene': 'MCEMP1', 'score': 16.21}, {'connected_gene': 'STXBP2', 'score': 11.78}, {'connected_gene': 'XAB2', 'score': 10.12}, {'connected_gene': 'MCOLN1', 'score': 8.46}, {'connected_gene': 'PEX11G', 'score': 7.8}, {'connected_gene': 'PNPLA6', 'score': 2.93}, {'connected_gene': 'RETN', 'score': 1.63}, {'connected_gene': 'RPS27AP19', 'score': 0.44}, {'connected_gene': 'ENSG00000268204', 'score': 0.37}]
chr19 GH19I007673 7673878 7675104 1.13 [{'connected_gene': 'MCEMP1', 'score': 17.79}, {'connected_gene': 'XAB2', 'score': 15.89}, {'connected_gene': 'HNRNPM', 'score': 12.85}, {'connected_gene': 'ZNF414', 'score': 12.74}, {'connected_gene': 'ZNF557', 'score': 11.17}, {'connected_gene': 'ELAVL1', 'score': 10.6}, {'connected_gene': 'SNAPC2', 'score': 9.85}, {'connected_gene': 'MCOLN1', 'score': 9.76}, {'connected_gene': 'STXBP2', 'score': 7.72}, {'connected_gene': 'PEX11G', 'score': 7.05}, {'connected_gene': 'PNPLA6', 'score': 2.16}, {'connected_gene': 'RETN', 'score': 0.44}]
chr19 GH19I007501 7501000 7501601 1.35 [{'connected_gene': 'ELAVL1', 'score': 11.81}, {'connected_gene': 'PEX11G', 'score': 5.9}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.44}]
chr19 GH19I007514 7514483 7517326 1.91 [{'connected_gene': 'ZNF358', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 26.85}, {'connected_gene': 'XAB2', 'score': 19.45}, {'connected_gene': 'ZNF557', 'score': 18.27}, {'connected_gene': 'ELAVL1', 'score': 16.05}, {'connected_gene': 'TRIP10', 'score': 14.5}, {'connected_gene': 'ZNF414', 'score': 13.16}, {'connected_gene': 'MAP2K7', 'score': 12.57}, {'connected_gene': 'ENSG00000269680', 'score': 11.37}, {'connected_gene': 'SH2D3A', 'score': 6.31}, {'connected_gene': 'PEX11G', 'score': 5.99}, {'connected_gene': 'LOC105372261', 'score': 0.44}, {'connected_gene': 'GC19M007510', 'score': 0.44}, {'connected_gene': 'MCOLN1', 'score': 0.44}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.34}]
chr19 GH19I007678 7678884 7682506 2.32 [{'connected_gene': 'TRAPPC5', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 54.97}, {'connected_gene': 'ELAVL1', 'score': 52.75}, {'connected_gene': 'XAB2', 'score': 33.6}, {'connected_gene': 'ZNF557', 'score': 25.43}, {'connected_gene': 'MAP2K7', 'score': 22.86}, {'connected_gene': 'STXBP2', 'score': 14.4}, {'connected_gene': 'ZNF414', 'score': 9.71}, {'connected_gene': 'MCEMP1', 'score': 9.68}, {'connected_gene': 'PEX11G', 'score': 7.66}, {'connected_gene': 'MCOLN1', 'score': 6.79}, {'connected_gene': 'ARHGEF18', 'score': 6.51}, {'connected_gene': 'PNPLA6', 'score': 6.15}, {'connected_gene': 'RPS28', 'score': 4.53}, {'connected_gene': 'RETN', 'score': 1.49}, {'connected_gene': 'EVI5L', 'score': 1.46}, {'connected_gene': 'ENSG00000269711', 'score': 0.77}]
chr19 GH19I007807 7807388 7808297 0.8 [{'connected_gene': 'TRAPPC5', 'score': 11.86}, {'connected_gene': 'MCEMP1', 'score': 11.85}, {'connected_gene': 'RPL21P129', 'score': 11.66}, {'connected_gene': 'CD209', 'score': 11.64}, {'connected_gene': 'CLEC4G', 'score': 11.62}, {'connected_gene': 'TEX45', 'score': 10.43}, {'connected_gene': 'PEX11G', 'score': 10.43}, {'connected_gene': 'EXOSC3P2', 'score': 0.44}, {'connected_gene': 'CLEC4GP1', 'score': 0.34}]
chr19 GH19I007512 7512375 7513305 0.63 [{'connected_gene': 'PNPLA6', 'score': 12.22}, {'connected_gene': 'ARHGEF18', 'score': 11.16}, {'connected_gene': 'PEX11G', 'score': 6.15}, {'connected_gene': 'ELAVL1', 'score': 5.25}, {'connected_gene': 'ZNF358', 'score': 0.77}, {'connected_gene': 'ENSG00000267952', 'score': 0.44}, {'connected_gene': 'GC19M007510', 'score': 0.39}, {'connected_gene': 'TEX45', 'score': 0.37}]
chr19 GH19I007507 7507800 7508401 0.94 [{'connected_gene': 'ENSG00000267952', 'score': 550.77}, {'connected_gene': 'PEX11G', 'score': 6.04}, {'connected_gene': 'ZNF358', 'score': 0.44}, {'connected_gene': 'TEX45', 'score': 0.37}]
chr19 GH19I007505 7505279 7507199 1.19 [{'connected_gene': 'ENSG00000267952', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 59.99}, {'connected_gene': 'ZNF557', 'score': 49.45}, {'connected_gene': 'ELAVL1', 'score': 43.57}, {'connected_gene': 'XAB2', 'score': 38.24}, {'connected_gene': 'MAP2K7', 'score': 11.09}, {'connected_gene': 'GPR108', 'score': 10.27}, {'connected_gene': 'PEX11G', 'score': 6.11}, {'connected_gene': 'TEX45', 'score': 0.39}]
chr19 GH19I007394 7394145 7396986 1.95 [{'connected_gene': 'ENSG00000267852', 'score': 550.77}, {'connected_gene': 'ARHGEF18', 'score': 550.25}, {'connected_gene': 'TEX45', 'score': 11.21}, {'connected_gene': 'PEX11G', 'score': 11.21}, {'connected_gene': 'NDUFA7', 'score': 4.55}, {'connected_gene': 'ENSG00000268861', 'score': 0.39}, {'connected_gene': 'GC19P007434', 'score': 0.28}]

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