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
ENST00000396671 [[24158650, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270492], [24338716, 24338862], [24378790, 24378862], [24536177, 24536266]] [[24164374, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270450]]
ENST00000356447 [[24159704, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270492], [24378790, 24378862], [24536142, 24536313]] [[24164374, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270450]]
ENST00000416420 [[24163698, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270492], [24338716, 24338814], [24359848, 24359985], [24378790, 24378862], [24536142, 24536302]] [[24164374, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270450]]
ENST00000413780 [[24188208, 24188313], [24193880, 24193981], [24231564, 24231825], [24338716, 24338862], [24378790, 24378862], [24536285, 24536496]] [[24188208, 24188313], [24193880, 24193981], [24231564, 24231754]]
ENST00000415021 [[24193898, 24193981], [24231564, 24231825], [24270428, 24270492], [24338716, 24338862], [24378790, 24378862], [24536177, 24536222]] [[24193898, 24193981], [24231564, 24231825], [24270428, 24270450]]
ENST00000447875 [[24193898, 24193981], [24231564, 24231825], [24270428, 24270492], [24359848, 24359985], [24378790, 24378862], [24471591, 24471663], [24536177, 24536242]] [[24193898, 24193981], [24231564, 24231825], [24270428, 24270450]]
ENST00000453729 [[24193900, 24193981], [24231564, 24231825], [24270428, 24270492], [24378790, 24378862], [24390048, 24390105], [24536285, 24536453]] [[24193900, 24193981], [24231564, 24231825], [24270428, 24270450]]
ENST00000431815 [[24193921, 24193981], [24231564, 24231825], [24270428, 24270492], [24378790, 24378862], [24536177, 24536288]] [[24193921, 24193981], [24231564, 24231825], [24270428, 24270450]]
ENST00000447414 [[24193953, 24193981], [24231564, 24231825], [24270428, 24270492], [24378790, 24378862], [24536623, 24536773]] [[24193953, 24193981], [24231564, 24231825], [24270428, 24270450]]
ENST00000428492 [[24231644, 24231825], [24270428, 24270492], [24359848, 24359985], [24378790, 24378862], [24536177, 24536262]] [[24231644, 24231825], [24270428, 24270450]]
ENST00000418247 [[24231658, 24231825], [24270428, 24270492], [24359848, 24359985], [24378790, 24378862], [24536142, 24536294]] [[24231658, 24231825], [24270428, 24270450]]
ENST00000280696 [[24164328, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24206517, 24207086]] [[24164374, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24206517, 24206845]]
NM_001252634 [[24158643, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270492], [24338716, 24338814], [24359848, 24359985], [24378790, 24378862], [24536142, 24536313]] [[24164374, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270450]]
NM_001128177 [[24158643, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270492], [24359848, 24359985], [24378790, 24378862], [24536142, 24536313]] [[24164374, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270450]]
NM_000461 [[24158643, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270492], [24378790, 24378862], [24536142, 24536313]] [[24164374, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270450]]
NM_001128176 [[24158643, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270492], [24338716, 24338862], [24378790, 24378862], [24536177, 24536313]] [[24164374, 24164616], [24168989, 24169248], [24174806, 24174953], [24184991, 24185197], [24188165, 24188313], [24193880, 24193981], [24231564, 24231825], [24270428, 24270450]]
Promoter
Chrom Start End Description
chr3 24161385 24161386 CAGE_peak_15_at_THRB_5end
chr3 24164102 24164126 CAGE_peak_13_at_THRB_5end
chr3 24206603 24206613 CAGE_peak_17_at_THRB_5end
chr3 24206665 24206674 CAGE_peak_21_at_THRB_5end
chr3 24206925 24206928 CAGE_peak_29_at_THRB_5end
chr3 24206934 24206942 CAGE_peak_24_at_THRB_5end
chr3 24206971 24206999 CAGE_peak_8_at_THRB_5end
chr3 24207018 24207024 CAGE_peak_22_at_THRB_5end
chr3 24207029 24207032 CAGE_peak_37_at_THRB_5end
chr3 24207039 24207050 CAGE_peak_16_at_THRB_5end
chr3 24207220 24207235 CAGE_peak_18_at_THRB_5end
chr3 24231794 24231799 CAGE_peak_38_at_THRB_5end
chr3 24536231 24536249 CAGE_peak_4_at_THRB_5end
chr3 24536253 24536328 CAGE_peak_1_at_THRB_5end
chr3 24536332 24536358 CAGE_peak_2_at_THRB_5end
chr3 24536364 24536373 CAGE_peak_7_at_THRB_5end
chr3 24536485 24536500 CAGE_peak_3_at_THRB_5end
chr3 24536516 24536545 CAGE_peak_6_at_THRB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I024237 24237512 24239304 1.32 [{'connected_gene': 'NR1D2', 'score': 12.34}, {'connected_gene': 'RPL15', 'score': 9.75}, {'connected_gene': 'LOC101927854', 'score': 0.17}, {'connected_gene': 'GC03M024338', 'score': 0.15}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024448 24448312 24456225 0.94 [{'connected_gene': 'THRB', 'score': 12.22}, {'connected_gene': 'THRB-IT1', 'score': 0.44}, {'connected_gene': 'GC03M024442', 'score': 0.44}]
chr3 GH03I024386 24386733 24390377 0.85 [{'connected_gene': 'THRB', 'score': 6.19}, {'connected_gene': 'GC03P024411', 'score': 0.34}, {'connected_gene': 'PIR47305', 'score': 0.34}, {'connected_gene': 'GC03M024338', 'score': 0.25}]
chr3 GH03I024375 24375986 24377059 1 [{'connected_gene': 'THRB', 'score': 5.87}, {'connected_gene': 'GC03P024411', 'score': 0.29}, {'connected_gene': 'PIR47305', 'score': 0.29}, {'connected_gene': 'GC03M024338', 'score': 0.28}]
chr3 GH03I024489 24489750 24497440 2.49 [{'connected_gene': 'THRB-AS1', 'score': 555.04}, {'connected_gene': 'THRB', 'score': 550.77}, {'connected_gene': 'RPL15', 'score': 9.97}, {'connected_gene': 'ENSG00000272554', 'score': 0.44}, {'connected_gene': 'THRB-IT1', 'score': 0.29}]
chr3 GH03I024481 24481286 24483157 0.49 [{'connected_gene': 'THRB-AS1', 'score': 0.39}, {'connected_gene': 'THRB', 'score': 0.39}, {'connected_gene': 'THRB-IT1', 'score': 0.34}]
chr3 GH03I024160 24160559 24163340 0.56 [{'connected_gene': 'NKIRAS1', 'score': 9.61}, {'connected_gene': 'NR1D2', 'score': 9.51}, {'connected_gene': 'LOC101927854', 'score': 0.39}, {'connected_gene': 'GC03M024338', 'score': 0.1}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024233 24233653 24234163 0.38 [{'connected_gene': 'NKIRAS1', 'score': 10.85}, {'connected_gene': 'LOC101927854', 'score': 0.18}, {'connected_gene': 'GC03M024338', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024210 24210225 24211021 0.2 [{'connected_gene': 'NKIRAS1', 'score': 4.98}, {'connected_gene': 'LOC101927854', 'score': 0.22}, {'connected_gene': 'GC03M024338', 'score': 0.12}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024215 24215214 24216034 0.31 [{'connected_gene': 'LOC101927854', 'score': 0.21}, {'connected_gene': 'GC03M024338', 'score': 0.13}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024211 24211368 24212105 0.2 [{'connected_gene': 'LOC101927854', 'score': 0.21}, {'connected_gene': 'GC03M024338', 'score': 0.13}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024219 24219892 24223335 1.07 [{'connected_gene': 'LOC101927854', 'score': 0.19}, {'connected_gene': 'GC03M024338', 'score': 0.13}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024217 24217495 24218105 0.2 [{'connected_gene': 'LOC101927854', 'score': 0.2}, {'connected_gene': 'GC03M024338', 'score': 0.13}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024155 24155961 24157381 1.02 [{'connected_gene': 'LOC101927854', 'score': 0.44}, {'connected_gene': 'GC03M024338', 'score': 0.09}, {'connected_gene': 'THRB', 'score': 0.05}]
chr3 GH03I024230 24230259 24230868 0.2 [{'connected_gene': 'LOC101927854', 'score': 0.18}, {'connected_gene': 'GC03M024338', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024182 24182229 24183367 0.38 [{'connected_gene': 'LOC101927854', 'score': 0.29}, {'connected_gene': 'GC03M024338', 'score': 0.1}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024185 24185455 24186417 0.93 [{'connected_gene': 'LOC101927854', 'score': 0.29}, {'connected_gene': 'GC03M024338', 'score': 0.1}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024232 24232396 24233141 0.2 [{'connected_gene': 'LOC101927854', 'score': 0.18}, {'connected_gene': 'GC03M024338', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024212 24212952 24213794 0.58 [{'connected_gene': 'LOC101927854', 'score': 0.21}, {'connected_gene': 'GC03M024338', 'score': 0.13}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024169 24169931 24169951 0.22 [{'connected_gene': 'LOC101927854', 'score': 0.37}, {'connected_gene': 'GC03M024338', 'score': 0.09}, {'connected_gene': 'THRB', 'score': 0.05}]
chr3 GH03I024234 24234418 24236830 0.7 [{'connected_gene': 'LOC101927854', 'score': 0.18}, {'connected_gene': 'GC03M024338', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024229 24229269 24230041 0.38 [{'connected_gene': 'LOC101927854', 'score': 0.18}, {'connected_gene': 'GC03M024338', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024199 24199990 24200139 0.65 [{'connected_gene': 'LOC101927854', 'score': 0.25}, {'connected_gene': 'GC03M024338', 'score': 0.11}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024196 24196670 24196681 0.38 [{'connected_gene': 'LOC101927854', 'score': 0.25}, {'connected_gene': 'GC03M024338', 'score': 0.11}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024195 24195950 24196159 0.31 [{'connected_gene': 'LOC101927854', 'score': 0.26}, {'connected_gene': 'GC03M024338', 'score': 0.11}, {'connected_gene': 'THRB', 'score': 0.06}]
chr3 GH03I024241 24241730 24243000 0.94 [{'connected_gene': 'LOC101927854', 'score': 0.16}, {'connected_gene': 'GC03M024338', 'score': 0.15}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024137 24137460 24138186 0.49 [{'connected_gene': 'LOC101927854', 'score': 0.39}, {'connected_gene': 'LINC00691', 'score': 0.29}, {'connected_gene': 'THRB', 'score': 0.05}]
chr3 GH03I024128 24128129 24128859 0.56 [{'connected_gene': 'LOC101927854', 'score': 0.34}, {'connected_gene': 'LINC00691', 'score': 0.31}, {'connected_gene': 'THRB', 'score': 0.05}]
chr3 GH03I024144 24144548 24147814 0.85 [{'connected_gene': 'LOC101927854', 'score': 0.44}, {'connected_gene': 'LINC00691', 'score': 0.26}, {'connected_gene': 'THRB', 'score': 0.05}]
chr3 GH03I024471 24471697 24471924 0.22 [{'connected_gene': 'THRB-IT1', 'score': 0.39}, {'connected_gene': 'THRB-AS1', 'score': 0.34}, {'connected_gene': 'THRB', 'score': 0.34}]
chr3 GH03I024472 24472370 24472739 0.38 [{'connected_gene': 'THRB-IT1', 'score': 0.39}, {'connected_gene': 'THRB-AS1', 'score': 0.34}, {'connected_gene': 'THRB', 'score': 0.34}]
chr3 GH03I024372 24372476 24374333 0.68 [{'connected_gene': 'GC03M024338', 'score': 0.29}, {'connected_gene': 'GC03P024411', 'score': 0.28}, {'connected_gene': 'PIR47305', 'score': 0.28}, {'connected_gene': 'THRB', 'score': 0.13}]
chr3 GH03I024377 24377201 24377601 0.69 [{'connected_gene': 'GC03P024411', 'score': 0.29}, {'connected_gene': 'PIR47305', 'score': 0.29}, {'connected_gene': 'GC03M024338', 'score': 0.28}, {'connected_gene': 'THRB', 'score': 0.13}]
chr3 GH03I024361 24361966 24364361 0.9 [{'connected_gene': 'GC03M024338', 'score': 0.34}, {'connected_gene': 'GC03P024411', 'score': 0.25}, {'connected_gene': 'PIR47305', 'score': 0.25}, {'connected_gene': 'THRB', 'score': 0.12}]
chr3 GH03I024364 24364456 24368362 1.19 [{'connected_gene': 'GC03M024338', 'score': 0.31}, {'connected_gene': 'GC03P024411', 'score': 0.26}, {'connected_gene': 'PIR47305', 'score': 0.26}, {'connected_gene': 'THRB', 'score': 0.13}]
chr3 GH03I024351 24351800 24352601 1.14 [{'connected_gene': 'GC03M024338', 'score': 0.39}, {'connected_gene': 'GC03P024411', 'score': 0.22}, {'connected_gene': 'PIR47305', 'score': 0.22}, {'connected_gene': 'THRB', 'score': 0.11}]
chr3 GH03I024378 24378490 24378639 0.54 [{'connected_gene': 'GC03P024411', 'score': 0.29}, {'connected_gene': 'PIR47305', 'score': 0.29}, {'connected_gene': 'GC03M024338', 'score': 0.28}, {'connected_gene': 'THRB', 'score': 0.13}]
chr3 GH03I024399 24399362 24402331 0.79 [{'connected_gene': 'GC03P024411', 'score': 0.44}, {'connected_gene': 'PIR47305', 'score': 0.44}, {'connected_gene': 'GC03M024338', 'score': 0.21}, {'connected_gene': 'THRB', 'score': 0.16}]
chr3 GH03I024390 24390801 24391200 0.2 [{'connected_gene': 'GC03P024411', 'score': 0.37}, {'connected_gene': 'PIR47305', 'score': 0.37}, {'connected_gene': 'GC03M024338', 'score': 0.23}, {'connected_gene': 'THRB', 'score': 0.15}]
chr3 GH03I024299 24299323 24300635 1.16 [{'connected_gene': 'GC03M024338', 'score': 0.26}, {'connected_gene': 'LOC101927854', 'score': 0.11}, {'connected_gene': 'THRB', 'score': 0.08}]
chr3 GH03I024264 24264014 24264251 0.31 [{'connected_gene': 'GC03M024338', 'score': 0.18}, {'connected_gene': 'LOC101927854', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024255 24255432 24256433 0.38 [{'connected_gene': 'GC03M024338', 'score': 0.18}, {'connected_gene': 'LOC101927854', 'score': 0.15}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024266 24266286 24266780 0.31 [{'connected_gene': 'GC03M024338', 'score': 0.19}, {'connected_gene': 'LOC101927854', 'score': 0.13}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024318 24318810 24318979 0.54 [{'connected_gene': 'GC03M024338', 'score': 0.34}, {'connected_gene': 'LOC101927854', 'score': 0.1}, {'connected_gene': 'THRB', 'score': 0.1}]
chr3 GH03I024260 24260250 24260399 1 [{'connected_gene': 'GC03M024338', 'score': 0.18}, {'connected_gene': 'LOC101927854', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024248 24248405 24248915 0.2 [{'connected_gene': 'GC03M024338', 'score': 0.16}, {'connected_gene': 'LOC101927854', 'score': 0.15}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024287 24287930 24288799 0.31 [{'connected_gene': 'GC03M024338', 'score': 0.23}, {'connected_gene': 'LOC101927854', 'score': 0.12}, {'connected_gene': 'THRB', 'score': 0.08}]
chr3 GH03I024257 24257597 24259746 0.54 [{'connected_gene': 'GC03M024338', 'score': 0.18}, {'connected_gene': 'LOC101927854', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024296 24296510 24296659 0.2 [{'connected_gene': 'GC03M024338', 'score': 0.26}, {'connected_gene': 'LOC101927854', 'score': 0.11}, {'connected_gene': 'THRB', 'score': 0.08}]
chr3 GH03I024256 24256553 24257032 0.31 [{'connected_gene': 'GC03M024338', 'score': 0.18}, {'connected_gene': 'LOC101927854', 'score': 0.14}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024254 24254642 24255207 0.46 [{'connected_gene': 'GC03M024338', 'score': 0.17}, {'connected_gene': 'LOC101927854', 'score': 0.15}, {'connected_gene': 'THRB', 'score': 0.07}]
chr3 GH03I024315 24315334 24317703 1.03 [{'connected_gene': 'GC03M024338', 'score': 0.34}, {'connected_gene': 'LOC101927854', 'score': 0.1}, {'connected_gene': 'THRB', 'score': 0.1}]

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