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
ENST00000448504 [[66255322, 66255567], [66303083, 66303852], [66339744, 66339932], [66343265, 66343313], [66347715, 66347827], [66352807, 66352945], [66364688, 66364885], [66366584, 66366665], [66381204, 66381313], [66391213, 66391334], [66397500, 66397591], [66416329, 66418872]] [[66303634, 66303852], [66339744, 66339932], [66343265, 66343313], [66347715, 66347827], [66352807, 66352945], [66364688, 66364885], [66366584, 66366665], [66381204, 66381313], [66391213, 66391334], [66397500, 66397591], [66416329, 66416604]]
ENST00000452479 [[66287658, 66287709], [66339744, 66339932], [66343265, 66343313], [66347715, 66347827], [66352807, 66352945], [66364688, 66364885], [66366584, 66366665], [66381204, 66381313], [66391213, 66391334], [66397500, 66397591], [66416329, 66416926]] [[66347753, 66347827], [66352807, 66352945], [66364688, 66364885], [66366584, 66366665], [66381204, 66381313], [66391213, 66391334], [66397500, 66397591], [66416329, 66416604]]
ENST00000578726 [[66255541, 66255567], [66270030, 66270705]] None
ENST00000581639 [[66287631, 66287709], [66303083, 66303720]] [[66303634, 66303720]]
ENST00000582154 [[66342887, 66343051], [66343265, 66343313], [66347715, 66347827], [66352807, 66352945], [66364688, 66364885], [66366584, 66366665], [66381204, 66381313], [66391213, 66391334], [66397500, 66397591], [66416329, 66416666]] None
ENST00000581032 [[66343285, 66343313], [66347715, 66347827], [66352807, 66352945], [66355628, 66355927]] None
ENST00000578554 [[66396296, 66396707], [66397500, 66397591], [66416329, 66416806]] None
ENST00000590690 [[66397182, 66397591], [66416329, 66416711]] None
NM_014960 [[66255322, 66255567], [66303083, 66303852], [66339744, 66339932], [66343265, 66343313], [66347715, 66347827], [66352807, 66352945], [66364688, 66364885], [66366584, 66366665], [66381204, 66381313], [66391213, 66391334], [66397500, 66397591], [66416329, 66417000]] [[66303634, 66303852], [66339744, 66339932], [66343265, 66343313], [66347715, 66347827], [66352807, 66352945], [66364688, 66364885], [66366584, 66366665], [66381204, 66381313], [66391213, 66391334], [66397500, 66397591], [66416329, 66416604]]
NM_001267727 [[66287635, 66287709], [66303083, 66303852], [66339744, 66339932], [66343265, 66343313], [66347715, 66347827], [66352807, 66352945], [66364688, 66364885], [66366584, 66366665], [66381204, 66381313], [66391213, 66391334], [66397500, 66397591], [66416329, 66417000]] [[66303634, 66303852], [66339744, 66339932], [66343265, 66343313], [66347715, 66347827], [66352807, 66352945], [66364688, 66364885], [66366584, 66366665], [66381204, 66381313], [66391213, 66391334], [66397500, 66397591], [66416329, 66416604]]
Promoter
Chrom Start End Description
chr17 66255310 66255334 CAGE_peak_4_at_ARSG_5end
chr17 66287472 66287482 CAGE_peak_6_at_ARSG_5end
chr17 66287486 66287533 CAGE_peak_3_at_ARSG_5end
chr17 66287628 66287659 CAGE_peak_1_at_ARSG_5end
chr17 66287663 66287684 CAGE_peak_2_at_ARSG_5end
chr17 66342686 66342696 CAGE_peak_14_at_ARSG_5end
chr17 66342708 66342727 CAGE_peak_9_at_ARSG_5end
chr17 66342891 66342906 CAGE_peak_10_at_ARSG_5end
chr17 66342925 66342942 CAGE_peak_11_at_ARSG_5end
chr17 66396581 66396600 CAGE_peak_8_at_ARSG_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I068287 68287259 68293454 2.61 [{'connected_gene': 'SLC16A6', 'score': 564.05}, {'connected_gene': 'ARSG', 'score': 550.29}, {'connected_gene': 'NOL11', 'score': 26.45}, {'connected_gene': 'AMZ2', 'score': 14.46}, {'connected_gene': 'BPTF', 'score': 12.65}, {'connected_gene': 'ABCA10', 'score': 10.48}, {'connected_gene': 'PRKAR1A', 'score': 3.05}, {'connected_gene': 'GC17P068267', 'score': 0.34}]
chr17 GH17I068293 68293691 68294763 0.82 [{'connected_gene': 'SLC16A6', 'score': 0.77}, {'connected_gene': 'ARSG', 'score': 0.28}, {'connected_gene': 'GC17M068333', 'score': 0.21}]
chr17 GH17I068311 68311498 68315640 1.67 [{'connected_gene': 'MIR635', 'score': 10.78}, {'connected_gene': 'SLC16A6', 'score': 6.91}, {'connected_gene': 'ABCA6', 'score': 4.91}, {'connected_gene': 'PRKAR1A', 'score': 3.8}, {'connected_gene': 'BPTF', 'score': 2.87}, {'connected_gene': 'GC17M068333', 'score': 0.26}, {'connected_gene': 'ARSG', 'score': 0.22}]
chr17 GH17I068325 68325960 68326149 0.72 [{'connected_gene': 'MIR635', 'score': 11.22}, {'connected_gene': 'GC17M068333', 'score': 0.31}, {'connected_gene': 'SLC16A6', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.2}]
chr17 GH17I068327 68325497 68325825 0.31 [{'connected_gene': 'MIR635', 'score': 10.45}, {'connected_gene': 'GC17M068333', 'score': 0.31}, {'connected_gene': 'SLC16A6', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.2}]
chr17 GH17I068431 68431880 68432029 0.83 [{'connected_gene': 'MIR635', 'score': 0.44}, {'connected_gene': 'ENSG00000267009', 'score': 0.37}, {'connected_gene': 'PRKAR1A', 'score': 0.37}, {'connected_gene': 'WIPI1', 'score': 0.31}, {'connected_gene': 'ARSG', 'score': 0.09}]
chr17 GH17I068425 68425020 68425169 0.7 [{'connected_gene': 'MIR635', 'score': 550.77}, {'connected_gene': 'ENSG00000267009', 'score': 0.39}, {'connected_gene': 'PRKAR1A', 'score': 0.39}, {'connected_gene': 'WIPI1', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.1}]
chr17 GH17I068355 68355936 68358110 1 [{'connected_gene': 'MIR635', 'score': 11.33}, {'connected_gene': 'PRKAR1A', 'score': 4.73}, {'connected_gene': 'GC17M068333', 'score': 0.77}, {'connected_gene': 'ENSG00000267009', 'score': 0.22}, {'connected_gene': 'ARSG', 'score': 0.15}]
chr17 GH17I068322 68322180 68322301 0.31 [{'connected_gene': 'MIR635', 'score': 10.51}, {'connected_gene': 'WIPI1', 'score': 10.31}, {'connected_gene': 'GC17M068333', 'score': 0.29}, {'connected_gene': 'SLC16A6', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.2}]
chr17 GH17I068338 68338940 68339089 0.2 [{'connected_gene': 'MIR635', 'score': 10.82}, {'connected_gene': 'WIPI1', 'score': 10.27}, {'connected_gene': 'GC17M068333', 'score': 0.37}, {'connected_gene': 'SLC16A6', 'score': 0.25}, {'connected_gene': 'ARSG', 'score': 0.18}]
chr17 GH17I068301 68301143 68303438 0.97 [{'connected_gene': 'MIR635', 'score': 10.18}, {'connected_gene': 'WIPI1', 'score': 10.18}, {'connected_gene': 'SLC16A6', 'score': 0.39}, {'connected_gene': 'ARSG', 'score': 0.25}, {'connected_gene': 'GC17M068333', 'score': 0.23}]
chr17 GH17I068310 68310014 68310904 1.08 [{'connected_gene': 'MIR635', 'score': 10.9}, {'connected_gene': 'WIPI1', 'score': 9.73}, {'connected_gene': 'SLC16A6', 'score': 6.11}, {'connected_gene': 'BPTF', 'score': 2.9}, {'connected_gene': 'PRKAR1A', 'score': 1.28}, {'connected_gene': 'GC17M068333', 'score': 0.26}, {'connected_gene': 'ARSG', 'score': 0.23}]
chr17 GH17I068296 68296007 68298861 1.32 [{'connected_gene': 'MIR635', 'score': 10.44}, {'connected_gene': 'WIPI1', 'score': 9.96}, {'connected_gene': 'PRKAR1A', 'score': 6.44}, {'connected_gene': 'SLC16A6', 'score': 2.75}, {'connected_gene': 'BPTF', 'score': 1.84}, {'connected_gene': 'ARSG', 'score': 0.26}, {'connected_gene': 'GC17M068333', 'score': 0.22}]
chr17 GH17I068343 68343507 68348217 1.12 [{'connected_gene': 'MIR635', 'score': 10.83}, {'connected_gene': 'WIPI1', 'score': 10.64}, {'connected_gene': 'PRKAR1A', 'score': 7.81}, {'connected_gene': 'AMZ2', 'score': 4.71}, {'connected_gene': 'ENSG00000267731', 'score': 4.54}, {'connected_gene': 'LINC00674', 'score': 4.15}, {'connected_gene': 'SLC16A6', 'score': 2.86}, {'connected_gene': 'GC17M068333', 'score': 0.44}, {'connected_gene': 'ARSG', 'score': 0.17}]
chr17 GH17I068391 68391250 68392066 1.08 [{'connected_gene': 'MIR635', 'score': 12.14}, {'connected_gene': 'WIPI1', 'score': 10.61}, {'connected_gene': 'ENSG00000267009', 'score': 0.34}, {'connected_gene': 'PRKAR1A', 'score': 0.34}, {'connected_gene': 'GC17M068333', 'score': 0.28}, {'connected_gene': 'ARSG', 'score': 0.12}]
chr17 GH17I068368 68368025 68369210 0.38 [{'connected_gene': 'MIR635', 'score': 11.61}, {'connected_gene': 'WIPI1', 'score': 10.77}, {'connected_gene': 'GC17M068333', 'score': 0.39}, {'connected_gene': 'ENSG00000267009', 'score': 0.25}, {'connected_gene': 'PRKAR1A', 'score': 0.25}, {'connected_gene': 'ARSG', 'score': 0.14}]
chr17 GH17I068396 68396576 68397542 0.94 [{'connected_gene': 'MIR635', 'score': 12.55}, {'connected_gene': 'WIPI1', 'score': 11.24}, {'connected_gene': 'PRKAR1A', 'score': 5.75}, {'connected_gene': 'ENSG00000267009', 'score': 0.37}, {'connected_gene': 'GC17M068333', 'score': 0.26}, {'connected_gene': 'ARSG', 'score': 0.12}]
chr17 GH17I068398 68398464 68401023 1.36 [{'connected_gene': 'MIR635', 'score': 12.58}, {'connected_gene': 'WIPI1', 'score': 11.25}, {'connected_gene': 'AMZ2', 'score': 5.3}, {'connected_gene': 'ENSG00000265055', 'score': 4.37}, {'connected_gene': 'PRKAR1A', 'score': 0.39}, {'connected_gene': 'ENSG00000267009', 'score': 0.39}, {'connected_gene': 'GC17M068333', 'score': 0.26}, {'connected_gene': 'ARSG', 'score': 0.11}]
chr17 GH17I068317 68317424 68320817 1.61 [{'connected_gene': 'MIR635', 'score': 10.79}, {'connected_gene': 'WIPI1', 'score': 10.52}, {'connected_gene': 'ABCA6', 'score': 5.66}, {'connected_gene': 'SLC16A6', 'score': 4.91}, {'connected_gene': 'BPTF', 'score': 2.0}, {'connected_gene': 'GC17M068333', 'score': 0.28}, {'connected_gene': 'ARSG', 'score': 0.21}]
chr17 GH17I068442 68442920 68443741 0.51 [{'connected_gene': 'PRKAR1A', 'score': 12.66}, {'connected_gene': 'WIPI1', 'score': 8.1}, {'connected_gene': 'MIR635', 'score': 0.37}, {'connected_gene': 'ENSG00000267009', 'score': 0.31}, {'connected_gene': 'ARSG', 'score': 0.09}]
chr17 GH17I068435 68435549 68439079 1.41 [{'connected_gene': 'PRKAR1A', 'score': 12.69}, {'connected_gene': 'NOL11', 'score': 10.17}, {'connected_gene': 'WIPI1', 'score': 9.4}, {'connected_gene': 'MIR635', 'score': 0.39}, {'connected_gene': 'ENSG00000267009', 'score': 0.34}, {'connected_gene': 'ARSG', 'score': 0.09}]
chr17 GH17I068388 68388901 68389689 0.2 [{'connected_gene': 'PRKAR1A', 'score': 4.78}, {'connected_gene': 'ENSG00000267009', 'score': 0.34}, {'connected_gene': 'GC17M068333', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.12}]
chr17 GH17I068337 68337920 68338069 0.2 [{'connected_gene': 'WIPI1', 'score': 10.22}, {'connected_gene': 'GC17M068333', 'score': 0.37}, {'connected_gene': 'SLC16A6', 'score': 0.25}, {'connected_gene': 'ARSG', 'score': 0.18}]
chr17 GH17I068352 68352342 68352529 0.26 [{'connected_gene': 'WIPI1', 'score': 10.61}, {'connected_gene': 'MIR635', 'score': 10.49}, {'connected_gene': 'PRKAR1A', 'score': 1.36}, {'connected_gene': 'GC17M068333', 'score': 0.77}, {'connected_gene': 'SLC16A6', 'score': 0.21}, {'connected_gene': 'ARSG', 'score': 0.15}]
chr17 GH17I068433 68433825 68435132 0.2 [{'connected_gene': 'WIPI1', 'score': 7.16}, {'connected_gene': 'MIR635', 'score': 0.44}, {'connected_gene': 'ENSG00000267009', 'score': 0.34}, {'connected_gene': 'PRKAR1A', 'score': 0.34}, {'connected_gene': 'ARSG', 'score': 0.1}]
chr17 GH17I068439 68439802 68442822 1.12 [{'connected_gene': 'WIPI1', 'score': 7.19}, {'connected_gene': 'MIR635', 'score': 0.37}, {'connected_gene': 'ENSG00000267009', 'score': 0.31}, {'connected_gene': 'PRKAR1A', 'score': 0.31}, {'connected_gene': 'ARSG', 'score': 0.09}]
chr17 GH17I068223 68222641 68222864 0.63 [{'connected_gene': 'WIPI1', 'score': 10.19}, {'connected_gene': 'ENSG00000265100', 'score': 8.58}, {'connected_gene': 'PRKAR1A', 'score': 2.57}, {'connected_gene': 'ARSG', 'score': 1.61}, {'connected_gene': 'BPTF', 'score': 1.51}, {'connected_gene': 'GC17P068233', 'score': 0.39}, {'connected_gene': 'GC17P068227', 'score': 0.37}, {'connected_gene': 'AMZ2', 'score': 0.37}]
chr17 GH17I068284 68284546 68285549 0.2 [{'connected_gene': 'AMZ2', 'score': 14.92}, {'connected_gene': 'SLC16A6', 'score': 7.18}, {'connected_gene': 'GC17P068267', 'score': 0.37}, {'connected_gene': 'ARSG', 'score': 0.31}]
chr17 GH17I068273 68273133 68274529 0.43 [{'connected_gene': 'AMZ2', 'score': 14.88}, {'connected_gene': 'MIR635', 'score': 11.57}, {'connected_gene': 'WIPI1', 'score': 11.24}, {'connected_gene': 'GC17P068267', 'score': 0.44}, {'connected_gene': 'ARSG', 'score': 0.37}, {'connected_gene': 'SLC16A6', 'score': 0.37}]
chr17 GH17I068304 68304697 68306055 1.22 [{'connected_gene': 'AMZ2', 'score': 11.33}, {'connected_gene': 'ARSG', 'score': 10.57}, {'connected_gene': 'MIR635', 'score': 10.56}, {'connected_gene': 'SLC16A6', 'score': 3.85}, {'connected_gene': 'BPTF', 'score': 1.89}, {'connected_gene': 'GC17M068333', 'score': 0.25}]
chr17 GH17I068262 68262802 68263799 1.09 [{'connected_gene': 'AMZ2', 'score': 23.37}, {'connected_gene': 'ARSG', 'score': 17.54}, {'connected_gene': 'WIPI1', 'score': 11.83}, {'connected_gene': 'MIR635', 'score': 11.34}, {'connected_gene': 'GC17P068267', 'score': 0.77}]
chr17 GH17I068246 68246742 68250587 2.27 [{'connected_gene': 'AMZ2', 'score': 574.69}, {'connected_gene': 'ENSG00000265100', 'score': 550.77}, {'connected_gene': 'ABCA9', 'score': 12.77}, {'connected_gene': 'WIPI1', 'score': 10.45}, {'connected_gene': 'ENSG00000267731', 'score': 5.54}, {'connected_gene': 'ARSG', 'score': 0.44}]
chr17 GH17I068326 68326488 68330404 1.29 [{'connected_gene': 'NOL11', 'score': 15.09}, {'connected_gene': 'MIR635', 'score': 11.22}, {'connected_gene': 'SNRPGP4', 'score': 10.41}, {'connected_gene': 'SLC16A6', 'score': 2.63}, {'connected_gene': 'GC17M068333', 'score': 0.31}, {'connected_gene': 'ARSG', 'score': 0.19}]
chr17 GH17I068377 68377016 68388670 1.84 [{'connected_gene': 'NOL11', 'score': 46.34}, {'connected_gene': 'BPTF', 'score': 25.12}, {'connected_gene': 'MIR635', 'score': 11.51}, {'connected_gene': 'SNRPGP4', 'score': 10.41}, {'connected_gene': 'SLC16A6', 'score': 5.13}, {'connected_gene': 'AMZ2', 'score': 5.08}, {'connected_gene': 'WIPI1', 'score': 1.92}, {'connected_gene': 'GC17M068333', 'score': 0.31}, {'connected_gene': 'PRKAR1A', 'score': 0.29}, {'connected_gene': 'ENSG00000267009', 'score': 0.29}, {'connected_gene': 'ARSG', 'score': 0.13}]
chr17 GH17I068227 68227366 68230243 0.57 [{'connected_gene': 'ARSG', 'score': 10.82}, {'connected_gene': 'AMZ2', 'score': 9.78}, {'connected_gene': 'ENSG00000265100', 'score': 6.54}, {'connected_gene': 'SLC16A6', 'score': 4.61}, {'connected_gene': 'GC17P068233', 'score': 0.77}, {'connected_gene': 'GC17P068227', 'score': 0.34}]
chr17 GH17I068252 68252389 68261077 2.61 [{'connected_gene': 'ARSG', 'score': 567.92}, {'connected_gene': 'AMZ2', 'score': 22.75}, {'connected_gene': 'WIPI1', 'score': 11.91}, {'connected_gene': 'MIR635', 'score': 10.94}, {'connected_gene': 'BPTF', 'score': 1.75}, {'connected_gene': 'ENSG00000265100', 'score': 0.44}]
chr17 GH17I068234 68234022 68241288 1.53 [{'connected_gene': 'BPTF', 'score': 12.37}, {'connected_gene': 'ARHGAP27P2', 'score': 8.31}, {'connected_gene': 'AMZ2', 'score': 8.25}, {'connected_gene': 'ARSG', 'score': 7.16}, {'connected_gene': 'SLC16A6', 'score': 5.59}, {'connected_gene': 'GC17P068233', 'score': 0.77}, {'connected_gene': 'ENSG00000265100', 'score': 0.39}]
chr17 GH17I068353 68353776 68355876 0.96 [{'connected_gene': 'GC17M068333', 'score': 550.77}, {'connected_gene': 'MIR635', 'score': 10.92}, {'connected_gene': 'ENSG00000267009', 'score': 0.22}, {'connected_gene': 'PRKAR1A', 'score': 0.22}, {'connected_gene': 'ARSG', 'score': 0.15}]
chr17 GH17I068354 68353100 68353269 0.69 [{'connected_gene': 'GC17M068333', 'score': 550.77}, {'connected_gene': 'MIR635', 'score': 10.9}, {'connected_gene': 'WIPI1', 'score': 10.61}, {'connected_gene': 'SLC16A6', 'score': 0.21}, {'connected_gene': 'ARSG', 'score': 0.15}]
chr17 GH17I068265 68265166 68266304 0.83 [{'connected_gene': 'GC17P068267', 'score': 550.77}, {'connected_gene': 'MIR635', 'score': 11.09}, {'connected_gene': 'WIPI1', 'score': 10.76}, {'connected_gene': 'ARSG', 'score': 0.44}]
chr17 GH17I068413 68413540 68415436 1.29 [{'connected_gene': 'ENSG00000267009', 'score': 550.77}, {'connected_gene': 'PRKAR1A', 'score': 550.77}, {'connected_gene': 'MIR635', 'score': 0.39}, {'connected_gene': 'ARSG', 'score': 0.1}]
chr17 GH17I068360 68360340 68360369 0.2 [{'connected_gene': 'GC17M068333', 'score': 0.44}, {'connected_gene': 'ENSG00000267009', 'score': 0.23}, {'connected_gene': 'PRKAR1A', 'score': 0.23}, {'connected_gene': 'ARSG', 'score': 0.15}]

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