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
ENST00000561648 [[49521434, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49823397, 49823457], [49856580, 49856650]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49823397, 49823457], [49856580, 49856596]]
ENST00000563137 [[49524514, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49823397, 49823457], [49889645, 49890046]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764778]]
ENST00000562871 [[49524515, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49814455, 49814520]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764778]]
ENST00000262383 [[49524521, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49823397, 49823457], [49856580, 49856649], [49860673, 49860918]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49823397, 49823457], [49856580, 49856596]]
ENST00000535559 [[49524697, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49698001, 49698136]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672711]]
ENST00000567169 [[49524861, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49674648, 49674763]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672711]]
ENST00000562520 [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49823397, 49823457], [49891651, 49891830]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764778]]
ENST00000568094 [[49764486, 49764882], [49823397, 49823459]] None
ENST00000561874 [[49764655, 49764882], [49823397, 49823457], [49856580, 49856649], [49860673, 49860921]] [[49764655, 49764882], [49823397, 49823457], [49856580, 49856596]]
NM_001330533 [[49521441, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49698001, 49698142]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672711]]
NM_015069 [[49521441, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49823397, 49823457], [49856580, 49856649]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49823397, 49823457], [49856580, 49856596]]
NM_001271620 [[49521441, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764882], [49823397, 49823457], [49891651, 49891830]] [[49525185, 49525215], [49557534, 49557650], [49559273, 49559405], [49660080, 49660165], [49669570, 49672785], [49764681, 49764778]]
Promoter
Chrom Start End Description
chr16 49698178 49698209 CAGE_peak_1_at_ZNF423_5end
chr16 49698228 49698243 CAGE_peak_2_at_ZNF423_5end
chr16 49698534 49698564 CAGE_peak_4_at_ZNF423_5end
chr16 49891694 49891706 CAGE_peak_10_at_ZNF423_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I050037 50037401 50040399 1.16 [{'connected_gene': 'HEATR3', 'score': 26.67}, {'connected_gene': 'BRD7', 'score': 10.13}, {'connected_gene': 'CNEP1R1', 'score': 2.32}, {'connected_gene': 'ZNF423', 'score': 1.88}, {'connected_gene': 'GC16P050035', 'score': 0.77}, {'connected_gene': 'PIR40425', 'score': 0.77}, {'connected_gene': 'LOC100130602', 'score': 0.44}]
chr16 GH16I049704 49704830 49704999 0.51 [{'connected_gene': 'MRPS21P7', 'score': 0.77}, {'connected_gene': 'GC16P049681', 'score': 0.34}, {'connected_gene': 'ZNF423', 'score': 0.1}]
chr16 GH16I049757 49757810 49758019 0.2 [{'connected_gene': 'MRPS21P8', 'score': 0.44}, {'connected_gene': 'ENSG00000280131', 'score': 0.25}, {'connected_gene': 'ZNF423', 'score': 0.15}]
chr16 GH16I049749 49749920 49750200 0.31 [{'connected_gene': 'MRPS21P8', 'score': 0.39}, {'connected_gene': 'ENSG00000280131', 'score': 0.28}, {'connected_gene': 'ZNF423', 'score': 0.14}]
chr16 GH16I049748 49748132 49748902 0.54 [{'connected_gene': 'MRPS21P8', 'score': 0.37}, {'connected_gene': 'ENSG00000280131', 'score': 0.28}, {'connected_gene': 'ZNF423', 'score': 0.14}]
chr16 GH16I049754 49754125 49756030 0.86 [{'connected_gene': 'MRPS21P8', 'score': 0.44}, {'connected_gene': 'ENSG00000280131', 'score': 0.26}, {'connected_gene': 'ZNF423', 'score': 0.15}]
chr16 GH16I049767 49767817 49768190 0.24 [{'connected_gene': 'MRPS21P8', 'score': 0.77}, {'connected_gene': 'GC16M049774', 'score': 0.44}, {'connected_gene': 'ZNF423', 'score': 0.17}]
chr16 GH16I049740 49740020 49740159 0.2 [{'connected_gene': 'MRPS21P8', 'score': 0.34}, {'connected_gene': 'ENSG00000280131', 'score': 0.31}, {'connected_gene': 'ZNF423', 'score': 0.13}]
chr16 GH16I050367 50367417 50370159 2.25 [{'connected_gene': 'BRD7', 'score': 588.44}, {'connected_gene': 'ENSG00000261393', 'score': 550.77}, {'connected_gene': 'ZNF423', 'score': 20.24}, {'connected_gene': 'PAPD5', 'score': 14.25}, {'connected_gene': 'SNX20', 'score': 11.68}]
chr16 GH16I049695 49695730 49704588 2.1 [{'connected_gene': 'ZNF423', 'score': 12.92}, {'connected_gene': 'MRPS21P7', 'score': 0.44}, {'connected_gene': 'GC16P049681', 'score': 0.37}]
chr16 GH16I049882 49882980 49887620 0.87 [{'connected_gene': 'ZNF423', 'score': 11.66}, {'connected_gene': 'CNEP1R1', 'score': 10.19}, {'connected_gene': 'GC16M049886', 'score': 0.44}]
chr16 GH16I049508 49508511 49508646 0.42 [{'connected_gene': 'ZNF423', 'score': 3.36}, {'connected_gene': 'ADAM3B', 'score': 0.39}, {'connected_gene': 'LINC02179', 'score': 0.26}]
chr16 GH16I049608 49608910 49608925 0.66 [{'connected_gene': 'ZNF423', 'score': 10.52}, {'connected_gene': 'GC16M049595', 'score': 0.77}, {'connected_gene': 'GC16P049602', 'score': 0.44}]
chr16 GH16I049607 49607907 49608621 0.63 [{'connected_gene': 'ZNF423', 'score': 10.52}, {'connected_gene': 'GC16M049595', 'score': 0.77}, {'connected_gene': 'GC16P049602', 'score': 0.44}]
chr16 GH16I049852 49852815 49860106 2.55 [{'connected_gene': 'ZNF423', 'score': 551.88}, {'connected_gene': 'GC16P049857', 'score': 550.77}, {'connected_gene': 'GC16M049827', 'score': 0.44}]
chr16 GH16I049662 49662868 49666385 0.83 [{'connected_gene': 'ZNF423', 'score': 5.6}, {'connected_gene': 'GC16P049681', 'score': 0.37}, {'connected_gene': 'GC16P049621', 'score': 0.26}]
chr16 GH16I049643 49643078 49644599 0.58 [{'connected_gene': 'ZNF423', 'score': 18.87}, {'connected_gene': 'GC16P049621', 'score': 0.34}, {'connected_gene': 'GC16P049681', 'score': 0.28}]
chr16 GH16I049651 49651745 49653233 0.91 [{'connected_gene': 'ZNF423', 'score': 7.35}, {'connected_gene': 'GC16P049681', 'score': 0.31}, {'connected_gene': 'GC16P049621', 'score': 0.29}]
chr16 GH16I049788 49788088 49789659 0.63 [{'connected_gene': 'ZNF423', 'score': 12.18}, {'connected_gene': 'GC16M049774', 'score': 0.39}, {'connected_gene': 'ENSG00000275155', 'score': 0.22}]
chr16 GH16I049638 49638264 49640974 1 [{'connected_gene': 'ZNF423', 'score': 16.31}, {'connected_gene': 'GC16P049621', 'score': 0.37}, {'connected_gene': 'GC16P049681', 'score': 0.26}]
chr16 GH16I049609 49608930 49609059 0.66 [{'connected_gene': 'ZNF423', 'score': 10.52}, {'connected_gene': 'GC16M049595', 'score': 0.77}, {'connected_gene': 'GC16P049602', 'score': 0.44}]
chr16 GH16I049866 49866276 49867500 0.51 [{'connected_gene': 'ZNF423', 'score': 0.44}, {'connected_gene': 'GC16M049886', 'score': 0.31}]
chr16 GH16I049527 49527801 49529000 0.96 [{'connected_gene': 'ADAM3B', 'score': 0.44}, {'connected_gene': 'GC16M049542', 'score': 0.39}, {'connected_gene': 'GC16M049543', 'score': 0.39}, {'connected_gene': 'ZNF423', 'score': 0.05}]
chr16 GH16I049503 49503001 49503800 0.49 [{'connected_gene': 'ADAM3B', 'score': 0.37}, {'connected_gene': 'LINC02179', 'score': 0.28}, {'connected_gene': 'ZNF423', 'score': 0.05}]
chr16 GH16I049501 49501790 49502997 0.38 [{'connected_gene': 'ADAM3B', 'score': 0.37}, {'connected_gene': 'LINC02179', 'score': 0.28}, {'connected_gene': 'ZNF423', 'score': 0.05}]
chr16 GH16I049496 49496982 49501547 0.38 [{'connected_gene': 'ADAM3B', 'score': 0.37}, {'connected_gene': 'LINC02179', 'score': 0.29}, {'connected_gene': 'ZNF423', 'score': 0.05}]
chr16 GH16I049491 49491349 49492870 1.03 [{'connected_gene': 'ADAM3B', 'score': 0.31}, {'connected_gene': 'LINC02179', 'score': 0.31}, {'connected_gene': 'GC16P049449', 'score': 0.26}, {'connected_gene': 'ZNF423', 'score': 0.05}]
chr16 GH16I049513 49513205 49515364 0.54 [{'connected_gene': 'ADAM3B', 'score': 0.77}, {'connected_gene': 'LINC02179', 'score': 0.25}, {'connected_gene': 'ZNF423', 'score': 0.05}]
chr16 GH16I049510 49510344 49511445 0.4 [{'connected_gene': 'ADAM3B', 'score': 0.44}, {'connected_gene': 'LINC02179', 'score': 0.26}, {'connected_gene': 'ZNF423', 'score': 0.05}]
chr16 GH16I049588 49588824 49589939 1.09 [{'connected_gene': 'LOC102724859', 'score': 4.61}, {'connected_gene': 'GC16P049602', 'score': 0.39}, {'connected_gene': 'GC16P049572', 'score': 0.37}, {'connected_gene': 'ZNF423', 'score': 0.06}]
chr16 GH16I049619 49619233 49622227 1.51 [{'connected_gene': 'GC16P049621', 'score': 550.77}, {'connected_gene': 'PAPD5', 'score': 10.87}, {'connected_gene': 'ZNF423', 'score': 9.81}, {'connected_gene': 'GC16M049595', 'score': 0.44}]
chr16 GH16I049775 49775662 49776949 0.74 [{'connected_gene': 'GC16M049774', 'score': 550.77}, {'connected_gene': 'PAPD5', 'score': 9.69}, {'connected_gene': 'ENSG00000275155', 'score': 0.19}, {'connected_gene': 'ZNF423', 'score': 0.18}]
chr16 GH16I049773 49773463 49774430 0.38 [{'connected_gene': 'GC16M049774', 'score': 550.77}, {'connected_gene': 'MRPS21P8', 'score': 0.44}, {'connected_gene': 'ZNF423', 'score': 0.18}]
chr16 GH16I049816 49816343 49818746 0.49 [{'connected_gene': 'ENSG00000275155', 'score': 0.29}, {'connected_gene': 'ZNF423', 'score': 0.26}, {'connected_gene': 'GC16M049774', 'score': 0.26}]
chr16 GH16I049844 49844550 49844699 0.51 [{'connected_gene': 'GC16M049827', 'score': 0.77}, {'connected_gene': 'ENSG00000275155', 'score': 0.77}, {'connected_gene': 'ZNF423', 'score': 0.39}, {'connected_gene': 'GC16M049774', 'score': 0.19}]
chr16 GH16I049840 49840546 49840761 0.54 [{'connected_gene': 'GC16M049827', 'score': 0.44}, {'connected_gene': 'ENSG00000275155', 'score': 0.44}, {'connected_gene': 'ZNF423', 'score': 0.37}, {'connected_gene': 'GC16M049774', 'score': 0.2}]
chr16 GH16I049832 49832001 49839998 0.99 [{'connected_gene': 'GC16M049827', 'score': 0.39}, {'connected_gene': 'ENSG00000275155', 'score': 0.39}, {'connected_gene': 'ZNF423', 'score': 0.34}, {'connected_gene': 'GC16M049774', 'score': 0.21}]
chr16 GH16I049787 49787511 49787554 0.2 [{'connected_gene': 'GC16M049774', 'score': 0.39}, {'connected_gene': 'ENSG00000275155', 'score': 0.21}, {'connected_gene': 'ZNF423', 'score': 0.19}]
chr16 GH16I049661 49661600 49662604 0.38 [{'connected_gene': 'GC16P049681', 'score': 0.37}, {'connected_gene': 'GC16P049621', 'score': 0.26}, {'connected_gene': 'ZNF423', 'score': 0.08}]
chr16 GH16I049586 49586444 49587708 0.2 [{'connected_gene': 'GC16P049572', 'score': 0.39}, {'connected_gene': 'GC16P049602', 'score': 0.39}, {'connected_gene': 'ZNF423', 'score': 0.06}]
chr16 GH16I049813 49813184 49814589 0.2 [{'connected_gene': 'ENSG00000275155', 'score': 0.29}, {'connected_gene': 'GC16M049774', 'score': 0.28}, {'connected_gene': 'ZNF423', 'score': 0.26}]
chr16 GH16I049850 49850435 49851631 0.38 [{'connected_gene': 'GC16M049827', 'score': 0.77}, {'connected_gene': 'GC16P049857', 'score': 0.44}, {'connected_gene': 'ZNF423', 'score': 0.44}]
chr16 GH16I049821 49821515 49821639 0.4 [{'connected_gene': 'ENSG00000275155', 'score': 0.31}, {'connected_gene': 'ZNF423', 'score': 0.28}, {'connected_gene': 'GC16M049774', 'score': 0.25}]
chr16 GH16I049631 49631242 49632564 0.86 [{'connected_gene': 'GC16P049621', 'score': 0.39}, {'connected_gene': 'GC16P049681', 'score': 0.25}, {'connected_gene': 'ZNF423', 'score': 0.07}]
chr16 GH16I049808 49808311 49810403 0.38 [{'connected_gene': 'GC16M049774', 'score': 0.29}, {'connected_gene': 'ENSG00000275155', 'score': 0.28}, {'connected_gene': 'ZNF423', 'score': 0.25}]
chr16 GH16I049593 49593010 49593179 0.76 [{'connected_gene': 'GC16P049602', 'score': 0.44}, {'connected_gene': 'GC16P049572', 'score': 0.34}, {'connected_gene': 'ZNF423', 'score': 0.07}]
chr16 GH16I049824 49824370 49825000 0.6 [{'connected_gene': 'ENSG00000275155', 'score': 0.34}, {'connected_gene': 'ZNF423', 'score': 0.29}, {'connected_gene': 'GC16M049774', 'score': 0.23}]
chr16 GH16I049827 49826492 49829759 0.92 [{'connected_gene': 'GC16M049827', 'score': 0.37}, {'connected_gene': 'ENSG00000275155', 'score': 0.37}, {'connected_gene': 'ZNF423', 'score': 0.31}, {'connected_gene': 'GC16M049774', 'score': 0.23}]
chr16 GH16I049575 49575155 49575968 0.92 [{'connected_gene': 'GC16P049572', 'score': 0.77}, {'connected_gene': 'GC16P049602', 'score': 0.31}, {'connected_gene': 'ZNF423', 'score': 0.06}]
chr16 GH16I049563 49563449 49565869 0.4 [{'connected_gene': 'GC16P049572', 'score': 0.44}, {'connected_gene': 'GC16M049542', 'score': 0.34}, {'connected_gene': 'GC16M049543', 'score': 0.34}, {'connected_gene': 'ZNF423', 'score': 0.06}]
chr16 GH16I049674 49674521 49675096 0.43 [{'connected_gene': 'GC16P049681', 'score': 0.44}, {'connected_gene': 'GC16P049621', 'score': 0.23}, {'connected_gene': 'ZNF423', 'score': 0.09}]
chr16 GH16I049810 49810411 49812465 0.99 [{'connected_gene': 'GC16M049774', 'score': 0.28}, {'connected_gene': 'ENSG00000275155', 'score': 0.28}, {'connected_gene': 'ZNF423', 'score': 0.25}]
chr16 GH16I049556 49556160 49558073 0.96 [{'connected_gene': 'GC16P049572', 'score': 0.39}, {'connected_gene': 'GC16M049542', 'score': 0.39}, {'connected_gene': 'GC16M049543', 'score': 0.39}, {'connected_gene': 'ZNF423', 'score': 0.06}]
chr16 GH16I049559 49559696 49561230 0.4 [{'connected_gene': 'GC16P049572', 'score': 0.39}, {'connected_gene': 'GC16M049542', 'score': 0.37}, {'connected_gene': 'GC16M049543', 'score': 0.37}, {'connected_gene': 'ZNF423', 'score': 0.06}]
chr16 GH16I049826 49825110 49825259 0.4 [{'connected_gene': 'ENSG00000275155', 'score': 0.34}, {'connected_gene': 'ZNF423', 'score': 0.29}, {'connected_gene': 'GC16M049774', 'score': 0.23}]
chr16 GH16I049594 49594433 49599955 1.44 [{'connected_gene': 'GC16P049602', 'score': 0.77}, {'connected_gene': 'GC16M049595', 'score': 0.39}, {'connected_gene': 'GC16P049572', 'score': 0.31}, {'connected_gene': 'ZNF423', 'score': 0.07}]
chr16 GH16I049846 49846107 49849581 0.52 [{'connected_gene': 'GC16M049827', 'score': 550.77}, {'connected_gene': 'ENSG00000275155', 'score': 550.77}, {'connected_gene': 'ZNF423', 'score': 0.39}]
chr16 GH16I049799 49799230 49799419 0.43 [{'connected_gene': 'GC16M049774', 'score': 0.34}, {'connected_gene': 'ENSG00000275155', 'score': 0.25}, {'connected_gene': 'ZNF423', 'score': 0.22}]
chr16 GH16I049823 49823387 49823843 0.4 [{'connected_gene': 'ENSG00000275155', 'score': 0.34}, {'connected_gene': 'ZNF423', 'score': 0.29}, {'connected_gene': 'GC16M049774', 'score': 0.25}]
chr16 GH16I049875 49875813 49877119 0.83 [{'connected_gene': 'GC16M049886', 'score': 0.37}, {'connected_gene': 'ZNF423', 'score': 0.37}]
chr16 GH16I049843 49843930 49844079 0.51 [{'connected_gene': 'GC16M049827', 'score': 0.77}, {'connected_gene': 'ENSG00000275155', 'score': 0.77}, {'connected_gene': 'ZNF423', 'score': 0.39}, {'connected_gene': 'GC16M049774', 'score': 0.2}]
chr16 GH16I049825 49825300 49826016 0.2 [{'connected_gene': 'ENSG00000275155', 'score': 0.34}, {'connected_gene': 'ZNF423', 'score': 0.29}, {'connected_gene': 'GC16M049774', 'score': 0.23}]
chr16 GH16I049789 49789710 49789859 0.38 [{'connected_gene': 'GC16M049774', 'score': 0.37}, {'connected_gene': 'ENSG00000275155', 'score': 0.22}, {'connected_gene': 'ZNF423', 'score': 0.2}]
chr16 GH16I049542 49542063 49543765 0.66 [{'connected_gene': 'GC16M049542', 'score': 550.77}, {'connected_gene': 'GC16M049543', 'score': 550.77}, {'connected_gene': 'ADAM3B', 'score': 0.34}, {'connected_gene': 'ZNF423', 'score': 0.06}]

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