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
ENST00000560498 [[77712753, 77713079], [77750745, 77750838], [77756581, 77756729], [77759436, 77759500]] [[77750749, 77750838], [77756581, 77756729], [77759436, 77759500]]
ENST00000336216 [[77712992, 77713346], [77750745, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771663], [77775311, 77777949]] [[77750749, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771657]]
ENST00000381714 [[77713015, 77713346], [77740060, 77740153], [77750745, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771663], [77775311, 77777945]] [[77750749, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771657]]
ENST00000558651 [[77713063, 77713176], [77750795, 77750838], [77756581, 77756729], [77759436, 77759626]] [[77759538, 77759626]]
ENST00000559035 [[77713243, 77713346], [77750745, 77750838], [77756581, 77756729], [77759524, 77759649], [77763251, 77763345]] [[77750749, 77750838], [77756581, 77756729], [77759524, 77759542]]
ENST00000558176 [[77713262, 77713346], [77750745, 77750900], [77756581, 77756729], [77759524, 77759616]] [[77759538, 77759616]]
ENST00000560986 [[77713276, 77713346], [77750745, 77750838], [77756581, 77757165]] None
ENST00000559099 [[77713352, 77713436], [77750745, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763271]] [[77750749, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763271]]
ENST00000560867 [[77750558, 77750626], [77750745, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763288]] [[77750749, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763288]]
ENST00000559728 [[77770464, 77770852], [77771520, 77771663], [77775311, 77775761]] None
ENST00000558845 [[77770634, 77770852], [77771520, 77771946]] [[77770634, 77770852], [77771520, 77771657]]
ENST00000558288 [[77774391, 77777949]] None
NM_001304505 [[77712992, 77713346], [77750745, 77750838], [77756581, 77756729], [77759524, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771663], [77775311, 77777945]] [[77759538, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771657]]
NM_001304504 [[77712992, 77713346], [77750745, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771663], [77775311, 77777945]] [[77750749, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771657]]
NM_018200 [[77712992, 77713346], [77740060, 77740153], [77750745, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771663], [77775311, 77777945]] [[77750749, 77750838], [77756581, 77756729], [77759436, 77759649], [77763251, 77763384], [77764124, 77764156], [77769896, 77769972], [77770636, 77770852], [77771520, 77771657]]
Promoter
Chrom Start End Description
chr15 77713025 77713081 CAGE_peak_2_at_HMG20A_5end
chr15 77713095 77713113 CAGE_peak_5_at_HMG20A_5end
chr15 77713222 77713271 CAGE_peak_1_at_HMG20A_5end
chr15 77713281 77713290 CAGE_peak_6_at_HMG20A_5end
chr15 77713299 77713316 CAGE_peak_3_at_HMG20A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I077817 77817620 77820756 1.36 [{'connected_gene': 'LINGO1', 'score': 581.74}, {'connected_gene': 'ENSG00000259213', 'score': 9.75}, {'connected_gene': 'LOC645752', 'score': 4.52}, {'connected_gene': 'ACSBG1', 'score': 4.14}, {'connected_gene': 'HMG20A', 'score': 1.96}, {'connected_gene': 'DNAJA4', 'score': 1.12}, {'connected_gene': 'GC15M077805', 'score': 0.39}]
chr15 GH15I077672 77672372 77675352 0.43 [{'connected_gene': 'LINGO1', 'score': 6.19}, {'connected_gene': 'LOC645752', 'score': 5.25}, {'connected_gene': 'HMG20A', 'score': 4.15}, {'connected_gene': 'LINGO1-AS2', 'score': 0.39}, {'connected_gene': 'ENSG00000280359', 'score': 0.14}]
chr15 GH15I077630 77630734 77634668 2.25 [{'connected_gene': 'LINGO1', 'score': 550.09}, {'connected_gene': 'ENSG00000259562', 'score': 18.58}, {'connected_gene': 'ENSG00000259322', 'score': 11.71}, {'connected_gene': 'HMG20A', 'score': 10.84}, {'connected_gene': 'IREB2', 'score': 9.75}, {'connected_gene': 'LINGO1-AS1', 'score': 5.22}, {'connected_gene': 'PEAK1', 'score': 4.22}, {'connected_gene': 'GC15P077635', 'score': 0.77}, {'connected_gene': 'PIR57145', 'score': 0.21}]
chr15 GH15I077178 77178852 77183455 0.97 [{'connected_gene': 'LINGO1', 'score': 10.77}, {'connected_gene': 'HMG20A', 'score': 10.75}, {'connected_gene': 'TSPAN3', 'score': 10.47}, {'connected_gene': 'PEAK1', 'score': 8.24}, {'connected_gene': 'LOC101929457', 'score': 7.77}, {'connected_gene': 'HMGN1P27', 'score': 0.34}, {'connected_gene': 'GC15M077111', 'score': 0.19}, {'connected_gene': 'PIR35714', 'score': 0.19}]
chr15 GH15I077454 77454661 77458900 0.99 [{'connected_gene': 'PEAK1', 'score': 9.33}, {'connected_gene': 'LOC101929457', 'score': 6.84}, {'connected_gene': 'GC15P077482', 'score': 0.31}, {'connected_gene': 'HMG20A', 'score': 0.28}]
chr15 GH15I077162 77162657 77164090 0.31 [{'connected_gene': 'PEAK1', 'score': 9.02}, {'connected_gene': 'LOC101929457', 'score': 7.98}, {'connected_gene': 'TSPAN3', 'score': 7.03}, {'connected_gene': 'HMG20A', 'score': 4.93}, {'connected_gene': 'HMGN1P27', 'score': 0.26}, {'connected_gene': 'GC15M077111', 'score': 0.23}, {'connected_gene': 'PIR35714', 'score': 0.23}]
chr15 GH15I078078 78078981 78080797 0.43 [{'connected_gene': 'LOC645752', 'score': 6.38}, {'connected_gene': 'HMG20A', 'score': 4.3}, {'connected_gene': 'SH2D7', 'score': 0.77}, {'connected_gene': 'GC15M078092', 'score': 0.39}, {'connected_gene': 'ENSG00000199633', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I076902 76902436 76906447 1.55 [{'connected_gene': 'SCAPER', 'score': 581.5}, {'connected_gene': 'LOC105370905', 'score': 11.87}, {'connected_gene': 'TYRO3P', 'score': 11.53}, {'connected_gene': 'HMG20A', 'score': 11.18}, {'connected_gene': 'RCN2', 'score': 4.54}, {'connected_gene': 'PIR61700', 'score': 0.13}]
chr15 GH15I077642 77642180 77646451 0.73 [{'connected_gene': 'LINGO1-AS1', 'score': 7.07}, {'connected_gene': 'HMG20A', 'score': 5.48}, {'connected_gene': 'GC15P077635', 'score': 0.44}, {'connected_gene': 'LINGO1-AS2', 'score': 0.37}, {'connected_gene': 'LINGO1', 'score': 0.1}]
chr15 GH15I078061 78061643 78078436 2.62 [{'connected_gene': 'TBC1D2B', 'score': 562.78}, {'connected_gene': 'LOC645752', 'score': 19.46}, {'connected_gene': 'ENSG00000199633', 'score': 12.08}, {'connected_gene': 'ADAMTS7P3', 'score': 11.46}, {'connected_gene': 'LOC440292', 'score': 5.04}, {'connected_gene': 'HMG20A', 'score': 4.41}, {'connected_gene': 'DNAJA4', 'score': 1.76}, {'connected_gene': 'IREB2', 'score': 1.27}, {'connected_gene': 'SH2D7', 'score': 0.44}, {'connected_gene': 'PIR50223', 'score': 0.25}, {'connected_gene': 'GC15M078026', 'score': 0.25}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078340 78340714 78342288 0.6 [{'connected_gene': 'CRABP1', 'score': 555.55}, {'connected_gene': 'ENSG00000279694', 'score': 550.77}, {'connected_gene': 'WDR61', 'score': 12.65}, {'connected_gene': 'ENSG00000259562', 'score': 10.31}, {'connected_gene': 'HMG20A', 'score': 10.15}, {'connected_gene': 'ENSG00000260988', 'score': 9.96}, {'connected_gene': 'CSPG4P13', 'score': 5.05}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I078341 78340219 78340703 1.06 [{'connected_gene': 'CRABP1', 'score': 550.77}, {'connected_gene': 'ENSG00000279694', 'score': 550.77}, {'connected_gene': 'WDR61', 'score': 12.65}, {'connected_gene': 'ENSG00000259562', 'score': 10.33}, {'connected_gene': 'HMG20A', 'score': 10.15}, {'connected_gene': 'ENSG00000260988', 'score': 9.96}, {'connected_gene': 'GC15M078021', 'score': 0.05}]
chr15 GH15I077417 77417579 77422319 2.12 [{'connected_gene': 'HMG20A', 'score': 570.76}, {'connected_gene': 'PEAK1', 'score': 550.77}, {'connected_gene': 'ENSG00000259562', 'score': 28.71}, {'connected_gene': 'ENSG00000259322', 'score': 26.89}, {'connected_gene': 'ENSG00000260988', 'score': 22.84}, {'connected_gene': 'WDR61', 'score': 22.29}, {'connected_gene': 'RCN2', 'score': 18.7}, {'connected_gene': 'LOC645752', 'score': 11.9}, {'connected_gene': 'TBC1D2B', 'score': 10.27}, {'connected_gene': 'LOC101929457', 'score': 6.61}, {'connected_gene': 'TSPAN3', 'score': 6.2}, {'connected_gene': 'GC15P077340', 'score': 0.18}]
chr15 GH15I077446 77446868 77447788 0.31 [{'connected_gene': 'HMG20A', 'score': 12.39}, {'connected_gene': 'PEAK1', 'score': 9.36}, {'connected_gene': 'LOC101929457', 'score': 8.41}, {'connected_gene': 'GC15P077482', 'score': 0.29}]
chr15 GH15I077185 77185925 77189934 1.32 [{'connected_gene': 'HMG20A', 'score': 8.28}, {'connected_gene': 'LOC101929457', 'score': 7.83}, {'connected_gene': 'PSTPIP1', 'score': 2.46}, {'connected_gene': 'HMGN1P27', 'score': 0.37}, {'connected_gene': 'GC15M077111', 'score': 0.18}, {'connected_gene': 'PIR35714', 'score': 0.18}, {'connected_gene': 'PEAK1', 'score': 0.07}]
chr15 GH15I077142 77142724 77146569 0.66 [{'connected_gene': 'HMG20A', 'score': 11.71}, {'connected_gene': 'TSPAN3', 'score': 10.69}, {'connected_gene': 'PEAK1', 'score': 9.06}, {'connected_gene': 'LOC101929457', 'score': 7.77}, {'connected_gene': 'CSPG4P13', 'score': 5.09}, {'connected_gene': 'GC15M077111', 'score': 0.29}, {'connected_gene': 'PIR35714', 'score': 0.29}, {'connected_gene': 'HMGN1P27', 'score': 0.22}]
chr15 GH15I077196 77196878 77197034 0.23 [{'connected_gene': 'HMG20A', 'score': 11.06}, {'connected_gene': 'HMGN1P27', 'score': 0.44}, {'connected_gene': 'GC15M077111', 'score': 0.17}, {'connected_gene': 'PIR35714', 'score': 0.17}, {'connected_gene': 'PEAK1', 'score': 0.07}]
chr15 GH15I077518 77518268 77519954 0.46 [{'connected_gene': 'LOC101929457', 'score': 23.45}, {'connected_gene': 'PEAK1', 'score': 8.84}, {'connected_gene': 'HMG20A', 'score': 7.57}, {'connected_gene': 'LOC440292', 'score': 5.58}, {'connected_gene': 'ENSG00000279033', 'score': 0.29}]
chr15 GH15I077506 77506164 77509399 1.06 [{'connected_gene': 'LOC101929457', 'score': 15.72}, {'connected_gene': 'PEAK1', 'score': 7.32}, {'connected_gene': 'HMG20A', 'score': 5.84}, {'connected_gene': 'LOC440292', 'score': 5.57}, {'connected_gene': 'ENSG00000279033', 'score': 0.34}]
chr15 GH15I077562 77562983 77565981 0.38 [{'connected_gene': 'LOC101929457', 'score': 14.81}, {'connected_gene': 'PEAK1', 'score': 9.29}, {'connected_gene': 'HMG20A', 'score': 5.28}, {'connected_gene': 'LOC105370906', 'score': 0.77}]
chr15 GH15I077540 77540681 77544108 1.39 [{'connected_gene': 'LOC101929457', 'score': 19.65}, {'connected_gene': 'IREB2', 'score': 17.92}, {'connected_gene': 'PSMA4', 'score': 12.27}, {'connected_gene': 'LINGO1', 'score': 10.69}, {'connected_gene': 'PEAK1', 'score': 10.6}, {'connected_gene': 'TSPAN3', 'score': 10.53}, {'connected_gene': 'HMG20A', 'score': 8.41}, {'connected_gene': 'LOC105370906', 'score': 0.31}]
chr15 GH15I077550 77550097 77559232 0.77 [{'connected_gene': 'LOC101929457', 'score': 19.18}, {'connected_gene': 'HMG20A', 'score': 12.77}, {'connected_gene': 'ACSBG1', 'score': 10.01}, {'connected_gene': 'PEAK1', 'score': 9.53}, {'connected_gene': 'CIB2', 'score': 5.34}, {'connected_gene': 'LOC105370906', 'score': 0.39}]
chr15 GH15I077466 77466359 77467080 0.31 [{'connected_gene': 'LOC101929457', 'score': 8.45}, {'connected_gene': 'GC15P077482', 'score': 0.37}, {'connected_gene': 'HMG20A', 'score': 0.25}]
chr15 GH15I077473 77473735 77476330 0.54 [{'connected_gene': 'LOC101929457', 'score': 6.87}, {'connected_gene': 'GC15P077482', 'score': 0.44}, {'connected_gene': 'HMG20A', 'score': 0.23}]
chr15 GH15I077908 77908127 77909404 0.94 [{'connected_gene': 'PIR48443', 'score': 550.77}, {'connected_gene': 'LOC645752', 'score': 37.19}, {'connected_gene': 'HMG20A', 'score': 10.29}, {'connected_gene': 'DNM1P9', 'score': 0.77}]
chr15 GH15I078417 78417922 78420045 0.82 [{'connected_gene': 'ENSG00000259562', 'score': 70.62}, {'connected_gene': 'IREB2', 'score': 49.74}, {'connected_gene': 'TBC1D2B', 'score': 33.09}, {'connected_gene': 'WDR61', 'score': 20.99}, {'connected_gene': 'ENSG00000259322', 'score': 11.81}, {'connected_gene': 'CRABP1', 'score': 11.68}, {'connected_gene': 'CHRNA5', 'score': 11.32}, {'connected_gene': 'HMG20A', 'score': 9.73}, {'connected_gene': 'PSMA4', 'score': 7.03}, {'connected_gene': 'ENSG00000259413', 'score': 0.28}, {'connected_gene': 'RWDD1P1', 'score': 0.28}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I077621 77621539 77624270 1.14 [{'connected_gene': 'ENSG00000259562', 'score': 69.62}, {'connected_gene': 'IREB2', 'score': 49.98}, {'connected_gene': 'TBC1D2B', 'score': 40.45}, {'connected_gene': 'WDR61', 'score': 37.39}, {'connected_gene': 'HMG20A', 'score': 25.29}, {'connected_gene': 'ENSG00000259322', 'score': 22.52}, {'connected_gene': 'ENSG00000260988', 'score': 19.18}, {'connected_gene': 'PSMA4', 'score': 10.68}, {'connected_gene': 'HYKK', 'score': 10.58}, {'connected_gene': 'LOC645752', 'score': 7.59}, {'connected_gene': 'ENSG00000269951', 'score': 5.49}, {'connected_gene': 'GC15P077635', 'score': 0.39}, {'connected_gene': 'PIR57145', 'score': 0.23}, {'connected_gene': 'LINGO1', 'score': 0.08}]
chr15 GH15I077486 77486530 77488257 0.71 [{'connected_gene': 'ENSG00000279033', 'score': 550.77}, {'connected_gene': 'GC15M077485', 'score': 550.77}, {'connected_gene': 'HMG20A', 'score': 11.65}, {'connected_gene': 'LOC101929457', 'score': 8.51}]
chr15 GH15I077481 77481226 77484551 0.96 [{'connected_gene': 'GC15P077482', 'score': 550.77}, {'connected_gene': 'PIR35087', 'score': 550.77}, {'connected_gene': 'GC15P077484', 'score': 550.77}, {'connected_gene': 'HMG20A', 'score': 20.22}, {'connected_gene': 'LOC101929457', 'score': 8.49}, {'connected_gene': 'ENSG00000279033', 'score': 0.77}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.