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
ENST00000474221 [[289134, 289239], [289803, 290075], [290389, 290600], [290677, 292095], [292545, 292677], [292885, 293502], [293593, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 295678]] None
ENST00000409548 [[289137, 289239], [289803, 290075], [290389, 290600], [290677, 291113], [291975, 292095], [292545, 292677], [292885, 292997], [293162, 293235], [293365, 293502], [293593, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 296107]] [[289816, 290075], [290389, 290600], [290677, 291113], [291975, 292095], [292545, 292677], [292885, 292997], [293162, 293235], [293365, 293502], [293593, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 294749]]
ENST00000409655 [[289171, 289239], [289869, 290075], [290389, 290600], [290657, 291113], [291975, 292095], [292545, 292677], [292885, 292997], [293162, 293235], [293669, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 295676]] [[290738, 291113], [291975, 292095], [292545, 292677], [292885, 292997], [293162, 293235], [293669, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 294749]]
ENST00000529087 [[289177, 289239], [289803, 290075], [290389, 290800]] None
ENST00000409479 [[289558, 290075], [290389, 290600], [290677, 291113], [291975, 292095], [292545, 292677], [292885, 292983], [293067, 293235], [293365, 293502], [293593, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 295258]] [[289816, 290075], [290389, 290600], [290677, 291113], [291975, 292095], [292545, 292677], [292885, 292983], [293067, 293235], [293365, 293502], [293593, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 294749]]
ENST00000482937 [[289919, 290075], [290389, 290600], [290677, 290781], [291001, 291113], [291975, 292095], [292545, 292576]] [[289919, 290075], [290389, 290600], [290677, 290781], [291001, 291113], [291975, 292003]]
ENST00000476372 [[291559, 292095], [292545, 292677], [292885, 292997], [293162, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 295683]] None
ENST00000397660 [[293678, 293727], [293829, 293925], [294098, 294196], [294320, 294478], [294555, 294732]] [[293678, 293727], [293829, 293925], [294098, 294196], [294320, 294478], [294555, 294732]]
NM_025092 [[289137, 289239], [289803, 290075], [290389, 290600], [290677, 291113], [291975, 292095], [292545, 292677], [292885, 292997], [293162, 293235], [293365, 293502], [293593, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 295688]] [[289816, 290075], [290389, 290600], [290677, 291113], [291975, 292095], [292545, 292677], [292885, 292997], [293162, 293235], [293365, 293502], [293593, 293727], [293829, 293925], [294098, 294196], [294266, 294478], [294555, 294749]]
Promoter
Chrom Start End Description
chr11 289110 289139 CAGE_peak_1_at_ATHL1_5end
chr11 289155 289173 CAGE_peak_2_at_ATHL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000352 352222 356950 1.57 [{'connected_gene': 'IFITM1', 'score': 27.33}, {'connected_gene': 'ENSG00000251661', 'score': 18.65}, {'connected_gene': 'PGGHG', 'score': 16.31}, {'connected_gene': 'TSPAN4', 'score': 15.23}, {'connected_gene': 'LOC105376505', 'score': 13.12}, {'connected_gene': 'IFITM3', 'score': 13.12}, {'connected_gene': 'ENSG00000255089', 'score': 13.1}, {'connected_gene': 'ENSG00000254910', 'score': 13.07}, {'connected_gene': 'TMEM80', 'score': 12.57}, {'connected_gene': 'ENSG00000255026', 'score': 12.12}, {'connected_gene': 'NLRP6', 'score': 12.1}, {'connected_gene': 'SNORA52', 'score': 11.98}, {'connected_gene': 'PHRF1', 'score': 11.79}, {'connected_gene': 'BET1L', 'score': 11.06}, {'connected_gene': 'ENSG00000255237', 'score': 10.56}, {'connected_gene': 'PIDD1', 'score': 10.06}, {'connected_gene': 'B4GALNT4', 'score': 7.1}, {'connected_gene': 'IFITM2', 'score': 5.01}, {'connected_gene': 'CEND1', 'score': 1.96}, {'connected_gene': 'ENSG00000270972', 'score': 0.34}]
chr11 GH11I000286 286874 290438 2.07 [{'connected_gene': 'PGGHG', 'score': 565.91}, {'connected_gene': 'ENSG00000255026', 'score': 561.91}, {'connected_gene': 'IFITM5', 'score': 11.47}, {'connected_gene': 'PHRF1', 'score': 9.79}, {'connected_gene': 'GC11M000282', 'score': 0.29}, {'connected_gene': 'GC11P000259', 'score': 0.29}]
chr11 GH11I000290 290656 291404 0.51 [{'connected_gene': 'PGGHG', 'score': 24.46}, {'connected_gene': 'IFITM5', 'score': 0.44}, {'connected_gene': 'GC11M000282', 'score': 0.29}, {'connected_gene': 'GC11P000259', 'score': 0.29}]
chr11 GH11I000291 291621 291770 0.38 [{'connected_gene': 'PGGHG', 'score': 23.82}, {'connected_gene': 'IFITM5', 'score': 0.44}, {'connected_gene': 'GC11M000282', 'score': 0.29}, {'connected_gene': 'GC11P000259', 'score': 0.29}]
chr11 GH11I000702 702328 711838 2.37 [{'connected_gene': 'EPS8L2', 'score': 578.36}, {'connected_gene': 'LOC105376508', 'score': 550.77}, {'connected_gene': 'DEAF1', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 25.27}, {'connected_gene': 'PGGHG', 'score': 6.21}, {'connected_gene': 'HRAS', 'score': 4.42}, {'connected_gene': 'GC11P000712', 'score': 0.44}, {'connected_gene': 'ENSG00000269915', 'score': 0.37}]
chr11 GH11I000218 218846 219729 0.2 [{'connected_gene': 'RIC8A', 'score': 35.29}, {'connected_gene': 'PSMD13', 'score': 32.69}, {'connected_gene': 'SIRT3', 'score': 19.57}, {'connected_gene': 'ODF3', 'score': 12.17}, {'connected_gene': 'SCGB1C1', 'score': 12.13}, {'connected_gene': 'NLRP6', 'score': 11.06}, {'connected_gene': 'ENSG00000255026', 'score': 11.04}, {'connected_gene': 'PGGHG', 'score': 11.04}, {'connected_gene': 'PIR38744', 'score': 0.77}]
chr11 GH11I000250 250826 251030 0.64 [{'connected_gene': 'RIC8A', 'score': 25.42}, {'connected_gene': 'BET1L', 'score': 11.87}, {'connected_gene': 'NLRP6', 'score': 11.77}, {'connected_gene': 'ENSG00000255026', 'score': 11.73}, {'connected_gene': 'PGGHG', 'score': 11.73}, {'connected_gene': 'GC11M000242', 'score': 0.77}, {'connected_gene': 'COX8BP', 'score': 0.44}, {'connected_gene': 'PSMD13', 'score': 0.39}]
chr11 GH11I000299 299981 300170 0.52 [{'connected_gene': 'IFITM5', 'score': 550.77}, {'connected_gene': 'PGGHG', 'score': 11.61}, {'connected_gene': 'MRPS24P1', 'score': 0.77}, {'connected_gene': 'GC11M000282', 'score': 0.34}, {'connected_gene': 'GC11P000259', 'score': 0.26}]
chr11 GH11I000296 296981 298398 0.76 [{'connected_gene': 'IFITM5', 'score': 550.77}, {'connected_gene': 'PGGHG', 'score': 32.81}, {'connected_gene': 'ENSG00000255026', 'score': 11.74}, {'connected_gene': 'GC11M000282', 'score': 0.34}, {'connected_gene': 'GC11P000259', 'score': 0.28}]
chr11 GH11I000222 222031 222259 0.4 [{'connected_gene': 'ODF3', 'score': 12.14}, {'connected_gene': 'SCGB1C1', 'score': 12.13}, {'connected_gene': 'NLRP6', 'score': 11.02}, {'connected_gene': 'ENSG00000255026', 'score': 11.0}, {'connected_gene': 'PGGHG', 'score': 11.0}, {'connected_gene': 'PIR38744', 'score': 0.44}, {'connected_gene': 'PSMD13', 'score': 0.39}, {'connected_gene': 'SIRT3', 'score': 0.39}]
chr11 GH11I000223 223121 223270 0.4 [{'connected_gene': 'ODF3', 'score': 12.14}, {'connected_gene': 'SCGB1C1', 'score': 12.11}, {'connected_gene': 'NLRP6', 'score': 11.02}, {'connected_gene': 'ENSG00000255026', 'score': 11.01}, {'connected_gene': 'PGGHG', 'score': 11.01}, {'connected_gene': 'PIR38744', 'score': 0.44}, {'connected_gene': 'PSMD13', 'score': 0.39}, {'connected_gene': 'SIRT3', 'score': 0.39}]
chr11 GH11I000303 303723 321507 2.73 [{'connected_gene': 'IFITM2', 'score': 593.63}, {'connected_gene': 'IFITM3', 'score': 582.18}, {'connected_gene': 'ENSG00000254910', 'score': 579.72}, {'connected_gene': 'IFITM1', 'score': 556.92}, {'connected_gene': 'PGGHG', 'score': 29.04}, {'connected_gene': 'TMEM80', 'score': 28.07}, {'connected_gene': 'PHRF1', 'score': 23.75}, {'connected_gene': 'ENSG00000270030', 'score': 21.6}, {'connected_gene': 'BET1L', 'score': 21.48}, {'connected_gene': 'RIC8A', 'score': 21.25}, {'connected_gene': 'SNORA52', 'score': 21.25}, {'connected_gene': 'ENSG00000251661', 'score': 19.39}, {'connected_gene': 'PIDD1', 'score': 14.45}, {'connected_gene': 'ENSG00000255026', 'score': 13.99}, {'connected_gene': 'NLRP6', 'score': 13.97}, {'connected_gene': 'SIGIRR', 'score': 11.74}, {'connected_gene': 'ENSG00000255237', 'score': 11.12}, {'connected_gene': 'ENSG00000254559', 'score': 10.78}, {'connected_gene': 'ODF3', 'score': 10.76}, {'connected_gene': 'SCGB1C1', 'score': 10.76}, {'connected_gene': 'TSPAN4', 'score': 10.19}, {'connected_gene': 'RPLP2', 'score': 10.08}, {'connected_gene': 'ENSG00000270972', 'score': 9.87}, {'connected_gene': 'LOC105376505', 'score': 8.29}, {'connected_gene': 'TALDO1', 'score': 3.05}, {'connected_gene': 'LRRC56', 'score': 1.98}, {'connected_gene': 'DEAF1', 'score': 1.75}, {'connected_gene': 'ANO9', 'score': 1.44}, {'connected_gene': 'SIRT3', 'score': 1.32}, {'connected_gene': 'GC11M000282', 'score': 0.44}, {'connected_gene': 'MRPS24P1', 'score': 0.44}, {'connected_gene': 'GC11P000259', 'score': 0.23}]
chr11 GH11I000349 349330 351662 1.13 [{'connected_gene': 'IFITM3', 'score': 13.15}, {'connected_gene': 'LOC105376505', 'score': 13.15}, {'connected_gene': 'ENSG00000255089', 'score': 13.12}, {'connected_gene': 'ENSG00000251661', 'score': 13.1}, {'connected_gene': 'IFITM1', 'score': 13.09}, {'connected_gene': 'ENSG00000254910', 'score': 13.09}, {'connected_gene': 'ENSG00000255026', 'score': 12.12}, {'connected_gene': 'PGGHG', 'score': 12.12}, {'connected_gene': 'NLRP6', 'score': 12.11}, {'connected_gene': 'OR4F2P', 'score': 4.92}, {'connected_gene': 'RNH1', 'score': 4.8}, {'connected_gene': 'B4GALNT4', 'score': 0.37}, {'connected_gene': 'ENSG00000270972', 'score': 0.37}]
chr11 GH11I000341 340891 342167 1.06 [{'connected_gene': 'ENSG00000251661', 'score': 18.41}, {'connected_gene': 'IFITM1', 'score': 12.51}, {'connected_gene': 'ENSG00000254910', 'score': 12.49}, {'connected_gene': 'ENSG00000255026', 'score': 11.66}, {'connected_gene': 'PGGHG', 'score': 11.66}, {'connected_gene': 'NLRP6', 'score': 11.64}, {'connected_gene': 'ENSG00000254559', 'score': 11.17}, {'connected_gene': 'ODF3', 'score': 11.16}, {'connected_gene': 'SCGB1C1', 'score': 11.16}, {'connected_gene': 'PHRF1', 'score': 9.8}, {'connected_gene': 'ENSG00000270972', 'score': 0.44}, {'connected_gene': 'B4GALNT4', 'score': 0.31}]
chr11 GH11I000342 342441 342565 0.46 [{'connected_gene': 'ENSG00000251661', 'score': 12.54}, {'connected_gene': 'ENSG00000255089', 'score': 12.54}, {'connected_gene': 'IFITM1', 'score': 12.51}, {'connected_gene': 'ENSG00000254910', 'score': 12.49}, {'connected_gene': 'PGGHG', 'score': 11.66}, {'connected_gene': 'ENSG00000255026', 'score': 11.65}, {'connected_gene': 'NLRP6', 'score': 11.64}, {'connected_gene': 'ENSG00000254559', 'score': 11.17}, {'connected_gene': 'ODF3', 'score': 11.17}, {'connected_gene': 'SCGB1C1', 'score': 11.16}, {'connected_gene': 'ENSG00000270972', 'score': 0.44}, {'connected_gene': 'B4GALNT4', 'score': 0.31}]
chr11 GH11I000340 340641 340830 0.49 [{'connected_gene': 'ENSG00000251661', 'score': 12.54}, {'connected_gene': 'IFITM1', 'score': 12.51}, {'connected_gene': 'ENSG00000254910', 'score': 12.51}, {'connected_gene': 'ENSG00000255026', 'score': 11.66}, {'connected_gene': 'PGGHG', 'score': 11.66}, {'connected_gene': 'NLRP6', 'score': 11.64}, {'connected_gene': 'ENSG00000254559', 'score': 11.17}, {'connected_gene': 'ODF3', 'score': 11.16}, {'connected_gene': 'SCGB1C1', 'score': 11.16}, {'connected_gene': 'ENSG00000270972', 'score': 0.44}, {'connected_gene': 'B4GALNT4', 'score': 0.31}]
chr11 GH11I000334 333336 333390 0.82 [{'connected_gene': 'ENSG00000270972', 'score': 550.77}, {'connected_gene': 'ENSG00000270030', 'score': 26.18}, {'connected_gene': 'ENSG00000255026', 'score': 12.03}, {'connected_gene': 'PGGHG', 'score': 12.03}, {'connected_gene': 'NLRP6', 'score': 12.01}, {'connected_gene': 'PHRF1', 'score': 10.99}, {'connected_gene': 'ENSG00000255142', 'score': 10.33}, {'connected_gene': 'PIDD1', 'score': 9.91}, {'connected_gene': 'B4GALNT4', 'score': 0.28}]
chr11 GH11I000333 333646 337976 1.46 [{'connected_gene': 'ENSG00000255026', 'score': 12.03}, {'connected_gene': 'PGGHG', 'score': 12.03}, {'connected_gene': 'NLRP6', 'score': 12.0}, {'connected_gene': 'LOC105376505', 'score': 11.51}, {'connected_gene': 'ENSG00000251661', 'score': 8.8}, {'connected_gene': 'ENSG00000270972', 'score': 5.15}, {'connected_gene': 'SIRT3', 'score': 5.01}, {'connected_gene': 'B4GALNT4', 'score': 0.29}]
chr11 GH11I000248 248127 249520 0.46 [{'connected_gene': 'GC11M000242', 'score': 550.77}, {'connected_gene': 'RIC8A', 'score': 22.55}, {'connected_gene': 'NLRP6', 'score': 12.24}, {'connected_gene': 'ENSG00000255026', 'score': 12.21}, {'connected_gene': 'PGGHG', 'score': 12.21}, {'connected_gene': 'BET1L', 'score': 11.8}, {'connected_gene': 'ENSG00000254559', 'score': 11.32}, {'connected_gene': 'ODF3', 'score': 11.3}, {'connected_gene': 'SCGB1C1', 'score': 11.28}, {'connected_gene': 'ANO9', 'score': 6.13}, {'connected_gene': 'GC11P000246', 'score': 0.77}, {'connected_gene': 'COX8BP', 'score': 0.44}, {'connected_gene': 'PSMD13', 'score': 0.39}]
chr11 GH11I000214 214031 214755 0.43 [{'connected_gene': 'PIR38744', 'score': 550.77}, {'connected_gene': 'PSMD13', 'score': 44.05}, {'connected_gene': 'RIC8A', 'score': 30.97}, {'connected_gene': 'SIRT3', 'score': 11.9}, {'connected_gene': 'PGGHG', 'score': 6.08}, {'connected_gene': 'PIR57925', 'score': 0.77}]
chr11 GH11I000266 266649 273455 1.74 [{'connected_gene': 'PIR53591', 'score': 550.77}, {'connected_gene': 'IFITM2', 'score': 34.33}, {'connected_gene': 'RIC8A', 'score': 32.71}, {'connected_gene': 'PSMD13', 'score': 24.67}, {'connected_gene': 'BET1L', 'score': 22.78}, {'connected_gene': 'SIRT3', 'score': 20.88}, {'connected_gene': 'PGGHG', 'score': 17.12}, {'connected_gene': 'TMEM80', 'score': 14.82}, {'connected_gene': 'ENSG00000254559', 'score': 11.41}, {'connected_gene': 'ODF3', 'score': 11.4}, {'connected_gene': 'SCGB1C1', 'score': 11.39}, {'connected_gene': 'SNORA52', 'score': 10.82}, {'connected_gene': 'NLRP6', 'score': 10.46}, {'connected_gene': 'RPLP2', 'score': 10.07}, {'connected_gene': 'PHRF1', 'score': 9.73}, {'connected_gene': 'TALDO1', 'score': 7.27}, {'connected_gene': 'IRF7', 'score': 5.5}, {'connected_gene': 'ANO9', 'score': 5.17}, {'connected_gene': 'IFITM1', 'score': 4.86}, {'connected_gene': 'SIGIRR', 'score': 4.31}, {'connected_gene': 'DEAF1', 'score': 2.3}, {'connected_gene': 'GC11P000259', 'score': 0.39}]
chr11 GH11I000324 324004 332000 1.46 [{'connected_gene': 'ENSG00000270030', 'score': 593.5}, {'connected_gene': 'LOC105376505', 'score': 592.49}, {'connected_gene': 'IFITM3', 'score': 560.72}, {'connected_gene': 'LOC105376504', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 25.0}, {'connected_gene': 'ENSG00000251661', 'score': 23.25}, {'connected_gene': 'PIDD1', 'score': 19.19}, {'connected_gene': 'TSPAN4', 'score': 15.22}, {'connected_gene': 'ENSG00000270972', 'score': 14.26}, {'connected_gene': 'SNORA52', 'score': 11.97}, {'connected_gene': 'RIC8A', 'score': 11.92}, {'connected_gene': 'PHRF1', 'score': 11.78}, {'connected_gene': 'BET1L', 'score': 11.07}, {'connected_gene': 'ENSG00000255237', 'score': 10.53}, {'connected_gene': 'ENSG00000254910', 'score': 9.41}, {'connected_gene': 'PGGHG', 'score': 5.36}]

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