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
ENST00000404625 [[22765502, 22765877], [22766797, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769279], [22771024, 22771621]] [[22766881, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769279], [22771024, 22771192]]
ENST00000426291 [[22766765, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769266]] [[22766881, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769266]]
ENST00000401651 [[22766765, 22766900], [22768311, 22768425], [22769132, 22769422]] [[22768329, 22768425], [22769132, 22769405]]
ENST00000258743 [[22766765, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769279], [22771024, 22771607]] [[22766881, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769279], [22771024, 22771192]]
ENST00000420258 [[22766818, 22767253], [22768311, 22768425], [22769132, 22770076]] [[22766881, 22767253], [22768311, 22768425], [22769132, 22769405]]
ENST00000485300 [[22766818, 22767253], [22768311, 22768425], [22769132, 22769279], [22771024, 22771313]] None
ENST00000407492 [[22766832, 22766900], [22768311, 22768425], [22769132, 22769279], [22771024, 22771621]] [[22768329, 22768425], [22769132, 22769279], [22771024, 22771192]]
ENST00000401630 [[22766842, 22766900], [22767131, 22767253], [22768311, 22768425], [22769132, 22769279], [22771024, 22771348]] [[22766881, 22766900], [22767131, 22767253], [22768311, 22768425], [22769132, 22769279], [22771024, 22771192]]
ENST00000406575 [[22766858, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769434]] [[22766881, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769405]]
ENST00000464710 [[22768118, 22768425], [22769132, 22769407]] None
NM_001318095 [[22766760, 22766900], [22768311, 22768425], [22769132, 22769279], [22771024, 22771621]] [[22768329, 22768425], [22769132, 22769279], [22771024, 22771192]]
NM_000600 [[22766760, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769279], [22771024, 22771621]] [[22766881, 22766900], [22767062, 22767253], [22768311, 22768425], [22769132, 22769279], [22771024, 22771192]]
Promoter
Chrom Start End Description
chr7 22766256 22766271 CAGE_peak_8_at_IL6_5end
chr7 22766811 22766825 CAGE_peak_1_at_IL6_5end
chr7 22766994 22767019 CAGE_peak_4_at_IL6_5end
chr7 22767022 22767133 CAGE_peak_2_at_IL6_5end
chr7 22767135 22767165 CAGE_peak_3_at_IL6_5end
chr7 22767166 22767171 CAGE_peak_11_at_IL6_5end
chr7 22767175 22767186 CAGE_peak_9_at_IL6_5end
chr7 22767216 22767223 CAGE_peak_10_at_IL6_5end
chr7 22768298 22768315 CAGE_peak_7_at_IL6_5end
chr7 22768316 22768365 CAGE_peak_5_at_IL6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I023055 23055722 23056000 0.94 [{'connected_gene': 'FAM126A', 'score': 11.55}, {'connected_gene': 'IL6', 'score': 10.66}, {'connected_gene': 'LOC541472', 'score': 10.66}, {'connected_gene': 'LOC105375185', 'score': 0.29}, {'connected_gene': 'LOC105375186', 'score': 0.26}]
chr7 GH07I022852 22852408 22861336 2.24 [{'connected_gene': 'SNORD93', 'score': 550.77}, {'connected_gene': 'GC07P022859', 'score': 550.77}, {'connected_gene': 'TOMM7', 'score': 34.51}, {'connected_gene': 'SNHG26', 'score': 30.09}, {'connected_gene': 'FAM126A', 'score': 10.71}, {'connected_gene': 'LOC541472', 'score': 9.75}, {'connected_gene': 'IL6', 'score': 9.74}, {'connected_gene': 'ENSG00000226329', 'score': 7.95}, {'connected_gene': 'STEAP1B', 'score': 1.52}, {'connected_gene': 'GC07P022853', 'score': 0.77}]
chr7 GH07I021938 21938381 21940559 1.23 [{'connected_gene': 'CDCA7L', 'score': 23.58}, {'connected_gene': 'IL6', 'score': 4.53}, {'connected_gene': 'PIR47500', 'score': 0.34}]
chr7 GH07I021941 21941289 21947147 2.43 [{'connected_gene': 'CDCA7L', 'score': 562.1}, {'connected_gene': 'EEF1A1P6', 'score': 10.83}, {'connected_gene': 'IL6', 'score': 4.5}, {'connected_gene': 'PIR47500', 'score': 0.31}]
chr7 GH07I022730 22730205 22731781 0.71 [{'connected_gene': 'LOC541472', 'score': 38.5}, {'connected_gene': 'FAM126A', 'score': 9.73}, {'connected_gene': 'IL6', 'score': 0.44}, {'connected_gene': 'MTCYBP42', 'score': 0.37}, {'connected_gene': 'GC07P022403', 'score': 0.05}]
chr7 GH07I022724 22724517 22729566 2.15 [{'connected_gene': 'LOC541472', 'score': 593.06}, {'connected_gene': 'IL6', 'score': 550.77}, {'connected_gene': 'FAM126A', 'score': 9.73}, {'connected_gene': 'STEAP1B', 'score': 8.72}, {'connected_gene': 'LOC100506178', 'score': 6.1}, {'connected_gene': 'GC07P022403', 'score': 0.05}]
chr7 GH07I022652 22652747 22653677 0.38 [{'connected_gene': 'LOC541472', 'score': 11.07}, {'connected_gene': 'IL6', 'score': 11.07}, {'connected_gene': 'GC07P022657', 'score': 0.77}, {'connected_gene': 'ENSG00000225541', 'score': 0.44}, {'connected_gene': 'GC07P022644', 'score': 0.44}, {'connected_gene': 'LOC401312', 'score': 0.39}, {'connected_gene': 'GC07P022403', 'score': 0.07}]
chr7 GH07I022694 22694742 22694891 0.76 [{'connected_gene': 'LOC541472', 'score': 11.86}, {'connected_gene': 'IL6', 'score': 11.86}, {'connected_gene': 'GC07P022719', 'score': 0.34}, {'connected_gene': 'LOC401312', 'score': 0.31}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I022702 22702283 22704471 1.4 [{'connected_gene': 'LOC541472', 'score': 28.77}, {'connected_gene': 'IL6', 'score': 12.73}, {'connected_gene': 'TRA2A', 'score': 11.11}, {'connected_gene': 'GC07P022719', 'score': 0.37}, {'connected_gene': 'LOC401312', 'score': 0.28}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I022695 22695755 22699203 1.56 [{'connected_gene': 'LOC541472', 'score': 38.06}, {'connected_gene': 'IL6', 'score': 36.27}, {'connected_gene': 'TRA2A', 'score': 11.03}, {'connected_gene': 'EEF1A1P6', 'score': 10.44}, {'connected_gene': 'GC07P022719', 'score': 0.34}, {'connected_gene': 'LOC401312', 'score': 0.29}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I022571 22571613 22573986 0.94 [{'connected_gene': 'LOC541472', 'score': 18.46}, {'connected_gene': 'IL6', 'score': 11.94}, {'connected_gene': 'STEAP1B', 'score': 11.88}, {'connected_gene': 'LOC100506178', 'score': 5.62}, {'connected_gene': 'ENSG00000232949', 'score': 0.37}, {'connected_gene': 'ENSG00000225541', 'score': 0.17}, {'connected_gene': 'GC07P022403', 'score': 0.1}]
chr7 GH07I022597 22597542 22598506 0.86 [{'connected_gene': 'LOC541472', 'score': 11.2}, {'connected_gene': 'IL6', 'score': 11.2}, {'connected_gene': 'ENSG00000232949', 'score': 0.44}, {'connected_gene': 'STEAP1B', 'score': 0.29}, {'connected_gene': 'ENSG00000225541', 'score': 0.21}, {'connected_gene': 'GC07P022403', 'score': 0.08}]
chr7 GH07I022582 22582416 22584569 1.34 [{'connected_gene': 'LOC541472', 'score': 18.07}, {'connected_gene': 'IL6', 'score': 11.36}, {'connected_gene': 'ENSG00000232949', 'score': 0.44}, {'connected_gene': 'LOC100506178', 'score': 0.34}, {'connected_gene': 'STEAP1B', 'score': 0.25}, {'connected_gene': 'ENSG00000225541', 'score': 0.18}, {'connected_gene': 'GC07P022403', 'score': 0.09}]
chr7 GH07I022549 22549122 22550751 0.99 [{'connected_gene': 'LOC541472', 'score': 17.11}, {'connected_gene': 'IL6', 'score': 11.31}, {'connected_gene': 'LOC100506178', 'score': 0.39}, {'connected_gene': 'GC07M022513', 'score': 0.28}, {'connected_gene': 'STEAP1B', 'score': 0.18}, {'connected_gene': 'GC07P022403', 'score': 0.11}]
chr7 GH07I022544 22544127 22544146 0.22 [{'connected_gene': 'LOC541472', 'score': 11.01}, {'connected_gene': 'IL6', 'score': 11.01}, {'connected_gene': 'LOC100506178', 'score': 0.37}, {'connected_gene': 'GC07M022513', 'score': 0.29}, {'connected_gene': 'STEAP1B', 'score': 0.17}, {'connected_gene': 'GC07P022403', 'score': 0.11}]
chr7 GH07I022681 22681848 22683418 0.94 [{'connected_gene': 'LOC541472', 'score': 16.83}, {'connected_gene': 'STEAP1B', 'score': 11.8}, {'connected_gene': 'IL6', 'score': 11.61}, {'connected_gene': 'LOC401312', 'score': 0.37}, {'connected_gene': 'GC07P022719', 'score': 0.28}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I022680 22680543 22681585 1.09 [{'connected_gene': 'LOC541472', 'score': 17.94}, {'connected_gene': 'STEAP1B', 'score': 11.8}, {'connected_gene': 'IL6', 'score': 11.61}, {'connected_gene': 'LOC401312', 'score': 0.37}, {'connected_gene': 'GC07P022719', 'score': 0.28}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I022675 22675062 22678049 1.22 [{'connected_gene': 'LOC541472', 'score': 16.49}, {'connected_gene': 'STEAP1B', 'score': 11.98}, {'connected_gene': 'IL6', 'score': 11.59}, {'connected_gene': 'ENSG00000226329', 'score': 6.7}, {'connected_gene': 'LOC401312', 'score': 0.39}, {'connected_gene': 'GC07P022719', 'score': 0.26}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I022665 22665710 22669474 1.34 [{'connected_gene': 'LOC541472', 'score': 19.6}, {'connected_gene': 'STEAP1B', 'score': 12.41}, {'connected_gene': 'IL6', 'score': 11.21}, {'connected_gene': 'TRA2A', 'score': 11.11}, {'connected_gene': 'LOC401312', 'score': 0.77}, {'connected_gene': 'GC07P022719', 'score': 0.23}, {'connected_gene': 'GC07P022403', 'score': 0.07}]
chr7 GH07I022650 22650497 22652669 0.94 [{'connected_gene': 'IL6', 'score': 11.07}, {'connected_gene': 'LOC541472', 'score': 11.06}, {'connected_gene': 'GC07P022657', 'score': 0.44}, {'connected_gene': 'GC07P022644', 'score': 0.44}, {'connected_gene': 'LOC401312', 'score': 0.39}, {'connected_gene': 'ENSG00000225541', 'score': 0.39}, {'connected_gene': 'GC07P022403', 'score': 0.07}]
chr7 GH07I022700 22700162 22701082 1.43 [{'connected_gene': 'IL6', 'score': 31.49}, {'connected_gene': 'LOC541472', 'score': 18.08}, {'connected_gene': 'GC07P022719', 'score': 0.37}, {'connected_gene': 'LOC401312', 'score': 0.28}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I022574 22574633 22575651 0.7 [{'connected_gene': 'IL6', 'score': 46.68}, {'connected_gene': 'LOC541472', 'score': 11.94}, {'connected_gene': 'STEAP1B', 'score': 11.89}, {'connected_gene': 'LOC100506178', 'score': 5.27}, {'connected_gene': 'ENSG00000232949', 'score': 0.39}, {'connected_gene': 'ENSG00000225541', 'score': 0.17}, {'connected_gene': 'GC07P022403', 'score': 0.09}]
chr7 GH07I022575 22575988 22579880 1.53 [{'connected_gene': 'IL6', 'score': 38.46}, {'connected_gene': 'LOC541472', 'score': 16.81}, {'connected_gene': 'STEAP1B', 'score': 16.66}, {'connected_gene': 'LOC100506178', 'score': 5.58}, {'connected_gene': 'ENSG00000232949', 'score': 0.39}, {'connected_gene': 'ENSG00000225541', 'score': 0.18}, {'connected_gene': 'GC07P022403', 'score': 0.09}]
chr7 GH07I022569 22569726 22570415 1.04 [{'connected_gene': 'IL6', 'score': 34.89}, {'connected_gene': 'LOC541472', 'score': 12.08}, {'connected_gene': 'STEAP1B', 'score': 11.55}, {'connected_gene': 'LOC100506178', 'score': 0.44}, {'connected_gene': 'ENSG00000232949', 'score': 0.37}, {'connected_gene': 'GC07P022403', 'score': 0.1}]
chr7 GH07I022598 22598514 22598898 0.61 [{'connected_gene': 'IL6', 'score': 35.76}, {'connected_gene': 'LOC541472', 'score': 17.97}, {'connected_gene': 'ENSG00000232949', 'score': 0.44}, {'connected_gene': 'STEAP1B', 'score': 0.29}, {'connected_gene': 'ENSG00000225541', 'score': 0.21}, {'connected_gene': 'GC07P022403', 'score': 0.08}]
chr7 GH07I022627 22627599 22627740 0.42 [{'connected_gene': 'IL6', 'score': 14.84}, {'connected_gene': 'LOC541472', 'score': 10.81}, {'connected_gene': 'STEAP1B', 'score': 0.44}, {'connected_gene': 'ENSG00000225541', 'score': 0.29}, {'connected_gene': 'ENSG00000232949', 'score': 0.28}, {'connected_gene': 'GC07P022403', 'score': 0.07}]
chr7 GH07I022592 22592091 22592486 0.47 [{'connected_gene': 'IL6', 'score': 13.45}, {'connected_gene': 'LOC541472', 'score': 11.59}, {'connected_gene': 'ENSG00000232949', 'score': 0.77}, {'connected_gene': 'STEAP1B', 'score': 0.26}, {'connected_gene': 'ENSG00000225541', 'score': 0.2}, {'connected_gene': 'GC07P022403', 'score': 0.09}]
chr7 GH07I022600 22600600 22602886 1.18 [{'connected_gene': 'IL6', 'score': 42.31}, {'connected_gene': 'LOC541472', 'score': 18.06}, {'connected_gene': 'STEAP1B', 'score': 12.02}, {'connected_gene': 'ENSG00000232949', 'score': 0.39}, {'connected_gene': 'ENSG00000225541', 'score': 0.21}, {'connected_gene': 'GC07P022403', 'score': 0.08}]
chr7 GH07I022628 22627322 22627471 0.4 [{'connected_gene': 'IL6', 'score': 10.81}, {'connected_gene': 'LOC541472', 'score': 10.8}, {'connected_gene': 'STEAP1B', 'score': 0.44}, {'connected_gene': 'ENSG00000225541', 'score': 0.29}, {'connected_gene': 'ENSG00000232949', 'score': 0.28}, {'connected_gene': 'GC07P022403', 'score': 0.07}]
chr7 GH07I022722 22722324 22724348 1.31 [{'connected_gene': 'IL6', 'score': 19.61}, {'connected_gene': 'LOC541472', 'score': 14.69}, {'connected_gene': 'GC07P022719', 'score': 0.77}, {'connected_gene': 'GC07P022403', 'score': 0.05}]
chr7 GH07I022646 22646575 22649280 1.38 [{'connected_gene': 'IL6', 'score': 13.75}, {'connected_gene': 'LOC541472', 'score': 11.06}, {'connected_gene': 'GC07P022644', 'score': 0.77}, {'connected_gene': 'GC07P022657', 'score': 0.44}, {'connected_gene': 'ENSG00000225541', 'score': 0.39}, {'connected_gene': 'GC07P022403', 'score': 0.07}]
chr7 GH07I022610 22610414 22610652 0.47 [{'connected_gene': 'IL6', 'score': 23.13}, {'connected_gene': 'STEAP1B', 'score': 0.34}, {'connected_gene': 'ENSG00000232949', 'score': 0.34}, {'connected_gene': 'ENSG00000225541', 'score': 0.23}, {'connected_gene': 'GC07P022403', 'score': 0.08}]
chr7 GH07I022669 22669822 22669991 0.51 [{'connected_gene': 'STEAP1B', 'score': 12.4}, {'connected_gene': 'LOC541472', 'score': 11.21}, {'connected_gene': 'IL6', 'score': 11.21}, {'connected_gene': 'LOC401312', 'score': 0.77}, {'connected_gene': 'GC07P022719', 'score': 0.25}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I022678 22678502 22678651 0.51 [{'connected_gene': 'STEAP1B', 'score': 11.8}, {'connected_gene': 'LOC541472', 'score': 11.59}, {'connected_gene': 'IL6', 'score': 11.59}, {'connected_gene': 'LOC401312', 'score': 0.39}, {'connected_gene': 'GC07P022719', 'score': 0.26}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I022671 22671147 22674312 1.44 [{'connected_gene': 'STEAP1B', 'score': 12.4}, {'connected_gene': 'LOC541472', 'score': 11.29}, {'connected_gene': 'IL6', 'score': 11.29}, {'connected_gene': 'GPNMB', 'score': 9.83}, {'connected_gene': 'ENSG00000226329', 'score': 4.47}, {'connected_gene': 'LOC401312', 'score': 0.44}, {'connected_gene': 'GC07P022719', 'score': 0.25}, {'connected_gene': 'GC07P022403', 'score': 0.06}]
chr7 GH07I023019 23019757 23025285 1.24 [{'connected_gene': 'LOC105375185', 'score': 550.77}, {'connected_gene': 'TOMM7', 'score': 6.84}, {'connected_gene': 'LOC541472', 'score': 6.74}, {'connected_gene': 'FAM126A', 'score': 5.05}, {'connected_gene': 'IL6', 'score': 3.81}, {'connected_gene': 'LOC105375186', 'score': 0.18}]
chr7 GH07I022559 22559962 22566929 1.32 [{'connected_gene': 'LOC100506178', 'score': 555.94}, {'connected_gene': 'LOC541472', 'score': 18.59}, {'connected_gene': 'IL6', 'score': 13.06}, {'connected_gene': 'FAM126A', 'score': 9.94}, {'connected_gene': 'ENSG00000232949', 'score': 0.31}, {'connected_gene': 'STEAP1B', 'score': 0.2}, {'connected_gene': 'GC07P022403', 'score': 0.1}]
chr7 GH07I022585 22585154 22591123 1.12 [{'connected_gene': 'ENSG00000232949', 'score': 550.77}, {'connected_gene': 'LOC541472', 'score': 17.99}, {'connected_gene': 'IL6', 'score': 11.59}, {'connected_gene': 'ENSG00000226816', 'score': 10.42}, {'connected_gene': 'LOC100506178', 'score': 0.34}, {'connected_gene': 'STEAP1B', 'score': 0.26}, {'connected_gene': 'ENSG00000225541', 'score': 0.19}, {'connected_gene': 'GC07P022403', 'score': 0.09}]
chr7 GH07I022656 22656695 22659073 0.38 [{'connected_gene': 'GC07P022657', 'score': 550.77}, {'connected_gene': 'LOC541472', 'score': 18.79}, {'connected_gene': 'STEAP1B', 'score': 12.97}, {'connected_gene': 'IL6', 'score': 11.91}, {'connected_gene': 'ENSG00000225541', 'score': 0.77}, {'connected_gene': 'LOC401312', 'score': 0.44}, {'connected_gene': 'GC07P022403', 'score': 0.07}]
chr7 GH07I022659 22659882 22665164 1.23 [{'connected_gene': 'ENSG00000225541', 'score': 550.77}, {'connected_gene': 'LOC541472', 'score': 18.63}, {'connected_gene': 'STEAP1B', 'score': 12.95}, {'connected_gene': 'IL6', 'score': 11.92}, {'connected_gene': 'TRA2A', 'score': 11.11}, {'connected_gene': 'CLK2P1', 'score': 5.78}, {'connected_gene': 'LOC401312', 'score': 0.77}, {'connected_gene': 'GC07P022403', 'score': 0.07}]