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
ENST00000451419 [[38144619, 38145284], [38163754, 38163866], [38164387, 38164574]] None
ENST00000333167 [[38164200, 38164613], [38167055, 38167201], [38167316, 38167372], [38167652, 38167832], [38168000, 38168191], [38169276, 38169357], [38170780, 38170879], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178699]] [[38164537, 38164613], [38167055, 38167201], [38167316, 38167372], [38167652, 38167832], [38168000, 38168191], [38169276, 38169357], [38170780, 38170879], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178526]]
ENST00000301810 [[38164200, 38164613], [38167055, 38167201], [38167316, 38167372], [38168000, 38168191], [38169276, 38169357], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178733]] [[38164537, 38164613], [38167055, 38167201], [38167316, 38167372], [38168000, 38168191], [38169276, 38169357], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178526]]
ENST00000411549 [[38164200, 38164613], [38167055, 38167201], [38167316, 38167372], [38167652, 38168191], [38169276, 38169357], [38170780, 38170879], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178733]] [[38170820, 38170879], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178526]]
ENST00000469559 [[38164206, 38167201], [38167316, 38168191], [38169276, 38169357], [38170780, 38170879], [38173086, 38173129], [38173416, 38174043]] None
ENST00000480865 [[38164209, 38164613], [38167055, 38167201], [38167316, 38167372], [38167652, 38168191], [38169276, 38169357], [38170780, 38170879], [38173086, 38173129], [38173416, 38173496], [38174981, 38175073]] None
ENST00000450296 [[38164209, 38164613], [38167055, 38167201], [38167316, 38167372], [38167652, 38167832], [38168000, 38168191], [38169276, 38169357], [38170780, 38170879], [38175442, 38175500], [38178082, 38178176], [38178355, 38178616]] [[38164537, 38164613], [38167055, 38167201], [38167316, 38167372], [38167652, 38167832], [38168000, 38168191], [38169276, 38169357], [38170780, 38170879], [38175442, 38175500], [38178082, 38178176], [38178355, 38178526]]
ENST00000452171 [[38164323, 38164613], [38167055, 38167201], [38167316, 38167372], [38168000, 38168191], [38169276, 38169357], [38170780, 38170879], [38173086, 38173129], [38173416, 38173437]] [[38164537, 38164613], [38167055, 38167201], [38167316, 38167372], [38168000, 38168191], [38169276, 38169357], [38170780, 38170879], [38173086, 38173129], [38173416, 38173437]]
ENST00000469600 [[38164400, 38164613], [38167055, 38167201], [38167316, 38167833]] None
ENST00000421218 [[38167054, 38167201], [38167316, 38167372], [38167652, 38167832], [38168000, 38168191], [38169276, 38169357], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178115]] [[38167054, 38167201], [38167316, 38167372], [38167652, 38167832], [38168000, 38168191], [38169276, 38169357], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178115]]
ENST00000544624 [[38167551, 38168191], [38169276, 38169357], [38170780, 38170879], [38173416, 38173496], [38175442, 38175500], [38175999, 38176043], [38178082, 38178176], [38178355, 38178527]] [[38167980, 38168191], [38169276, 38169357], [38170780, 38170869]]
ENST00000440176 [[38167551, 38168191], [38169276, 38169357], [38170780, 38170879], [38173416, 38173496], [38175442, 38175500], [38175999, 38176043], [38178082, 38178176], [38178355, 38178587]] [[38175443, 38175500], [38175999, 38176043], [38178082, 38178176], [38178355, 38178526]]
ENST00000444607 [[38167822, 38168191], [38169276, 38169357], [38170780, 38170879], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178583]] [[38170820, 38170879], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178526]]
ENST00000423611 [[38167941, 38168191], [38169276, 38169357], [38170780, 38170879], [38173416, 38173496], [38178082, 38178176], [38178355, 38178628]] [[38173419, 38173496], [38178082, 38178176], [38178355, 38178526]]
ENST00000447223 [[38167983, 38168191], [38169276, 38169357], [38170780, 38170879], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38175999, 38176043], [38178082, 38178176], [38178355, 38178563]] [[38175443, 38175500], [38175999, 38176043], [38178082, 38178176], [38178355, 38178526]]
ENST00000418880 [[38169121, 38169357], [38170780, 38170879], [38173416, 38173496], [38178082, 38178176], [38178355, 38178583]] [[38173419, 38173496], [38178082, 38178176], [38178355, 38178526]]
ENST00000465181 [[38170819, 38170879], [38173416, 38173496], [38175442, 38175958]] None
ENST00000484284 [[38175270, 38175500], [38178082, 38178176], [38178355, 38178611]] None
ENST00000460424 [[38175363, 38175500], [38175999, 38176043], [38178082, 38178176], [38178355, 38178618]] None
ENST00000489559 [[38175886, 38176043], [38176674, 38176785], [38178082, 38178176], [38178355, 38178572]] None
NM_001607 [[38164200, 38164613], [38167055, 38167201], [38167316, 38167372], [38167652, 38167832], [38168000, 38168191], [38169276, 38169357], [38170780, 38170879], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178733]] [[38164537, 38164613], [38167055, 38167201], [38167316, 38167372], [38167652, 38167832], [38168000, 38168191], [38169276, 38169357], [38170780, 38170879], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178526]]
NM_001130410 [[38164200, 38164613], [38167055, 38167201], [38167316, 38167372], [38168000, 38168191], [38169276, 38169357], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178733]] [[38164537, 38164613], [38167055, 38167201], [38167316, 38167372], [38168000, 38168191], [38169276, 38169357], [38173086, 38173129], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178526]]
NR_024024 [[38164200, 38164613], [38167055, 38167201], [38167316, 38167372], [38167652, 38168191], [38169276, 38169357], [38170780, 38170879], [38173416, 38173496], [38175442, 38175500], [38178082, 38178176], [38178355, 38178733]] None
Promoter
Chrom Start End Description
chr3 38178534 38178632 CAGE_peak_1_at_ACAA1_5end
chr3 38178634 38178643 CAGE_peak_3_at_ACAA1_5end
chr3 38178646 38178655 CAGE_peak_2_at_ACAA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I038163 38163201 38171195 2.78 [{'connected_gene': 'OXSR1', 'score': 590.52}, {'connected_gene': 'LOC101928234', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 21.99}, {'connected_gene': 'NDUFAF4P3', 'score': 21.97}, {'connected_gene': 'ACAA1', 'score': 20.38}, {'connected_gene': 'MYD88', 'score': 19.35}, {'connected_gene': 'ACVR2B', 'score': 11.9}, {'connected_gene': 'C3orf35', 'score': 11.75}, {'connected_gene': 'SLC22A13', 'score': 11.07}, {'connected_gene': 'ACVR2B-AS1', 'score': 10.25}, {'connected_gene': 'VILL', 'score': 7.7}, {'connected_gene': 'PLCD1', 'score': 2.97}, {'connected_gene': 'DLEC1', 'score': 1.38}, {'connected_gene': 'SLC22A14', 'score': 1.29}, {'connected_gene': 'GC03P038253', 'score': 0.17}, {'connected_gene': 'PIR62277', 'score': 0.17}]
chr3 GH03I038267 38267353 38268040 0.4 [{'connected_gene': 'SLC22A13', 'score': 550.77}, {'connected_gene': 'RNU6-235P', 'score': 12.88}, {'connected_gene': 'XYLB', 'score': 10.98}, {'connected_gene': 'MYD88', 'score': 10.84}, {'connected_gene': 'ACAA1', 'score': 10.83}, {'connected_gene': 'VILL', 'score': 9.62}, {'connected_gene': 'LOC101409262', 'score': 0.77}, {'connected_gene': 'GC03M038270', 'score': 0.77}]
chr3 GH03I038246 38246990 38248324 0.6 [{'connected_gene': 'SLC22A14', 'score': 11.34}, {'connected_gene': 'ACAA1', 'score': 10.25}, {'connected_gene': 'RNU6-1227P', 'score': 9.01}, {'connected_gene': 'EXOG', 'score': 4.28}, {'connected_gene': 'GC03P038253', 'score': 0.44}, {'connected_gene': 'PIR62277', 'score': 0.44}, {'connected_gene': 'OXSR1', 'score': 0.18}, {'connected_gene': 'LOC101928234', 'score': 0.18}]
chr3 GH03I038127 38127143 38128721 0.2 [{'connected_gene': 'SLC22A14', 'score': 11.14}, {'connected_gene': 'ENSG00000201965', 'score': 0.77}, {'connected_gene': 'GC03M038125', 'score': 0.77}, {'connected_gene': 'ACAA1', 'score': 0.44}]
chr3 GH03I038157 38157316 38158199 0.63 [{'connected_gene': 'GORASP1', 'score': 23.2}, {'connected_gene': 'NDUFAF4P3', 'score': 19.12}, {'connected_gene': 'ACVR2B', 'score': 13.8}, {'connected_gene': 'ACAA1', 'score': 12.23}, {'connected_gene': 'OXSR1', 'score': 0.44}, {'connected_gene': 'LOC101928234', 'score': 0.44}, {'connected_gene': 'MYD88', 'score': 0.37}]
chr3 GH03I038108 38108401 38109400 0.46 [{'connected_gene': 'PLCD1', 'score': 6.19}, {'connected_gene': 'PIR60395', 'score': 0.44}, {'connected_gene': 'LOC105377033', 'score': 0.39}, {'connected_gene': 'ACAA1', 'score': 0.31}, {'connected_gene': 'GC03M038048', 'score': 0.23}, {'connected_gene': 'DLEC1', 'score': 0.19}]
chr3 GH03I038150 38150601 38155625 1.55 [{'connected_gene': 'VILL', 'score': 14.02}, {'connected_gene': 'MYD88', 'score': 12.88}, {'connected_gene': 'OXSR1', 'score': 12.78}, {'connected_gene': 'ACAA1', 'score': 11.61}]
chr3 GH03I038102 38102002 38102902 0.63 [{'connected_gene': 'MYD88', 'score': 13.96}, {'connected_gene': 'VILL', 'score': 13.76}, {'connected_gene': 'ACAA1', 'score': 11.76}, {'connected_gene': 'SLC22A13', 'score': 11.07}, {'connected_gene': 'PLCD1', 'score': 6.24}, {'connected_gene': 'OXSR1', 'score': 2.95}, {'connected_gene': 'SLC22A14', 'score': 2.92}, {'connected_gene': 'PIR60395', 'score': 0.39}, {'connected_gene': 'GC03M038048', 'score': 0.25}, {'connected_gene': 'DLEC1', 'score': 0.21}]
chr3 GH03I038185 38185770 38185919 0.2 [{'connected_gene': 'ACAA1', 'score': 5.35}, {'connected_gene': 'OXSR1', 'score': 0.34}, {'connected_gene': 'LOC101928234', 'score': 0.34}, {'connected_gene': 'GC03P038253', 'score': 0.2}, {'connected_gene': 'PIR62277', 'score': 0.2}]
chr3 GH03I038190 38190630 38190779 0.2 [{'connected_gene': 'ACAA1', 'score': 11.26}, {'connected_gene': 'MYD88', 'score': 11.26}, {'connected_gene': 'OXSR1', 'score': 0.31}, {'connected_gene': 'LOC101928234', 'score': 0.31}, {'connected_gene': 'GC03P038253', 'score': 0.21}, {'connected_gene': 'PIR62277', 'score': 0.21}]
chr3 GH03I038227 38227461 38228600 0.66 [{'connected_gene': 'ACAA1', 'score': 16.16}, {'connected_gene': 'MYD88', 'score': 11.24}, {'connected_gene': 'GC03P038253', 'score': 0.31}, {'connected_gene': 'PIR62277', 'score': 0.31}, {'connected_gene': 'OXSR1', 'score': 0.21}, {'connected_gene': 'LOC101928234', 'score': 0.21}]
chr3 GH03I038129 38129119 38140031 2.28 [{'connected_gene': 'ACAA1', 'score': 560.89}, {'connected_gene': 'MYD88', 'score': 550.77}, {'connected_gene': 'OXSR1', 'score': 5.51}, {'connected_gene': 'PIR37756', 'score': 0.77}, {'connected_gene': 'ENSG00000201965', 'score': 0.44}, {'connected_gene': 'GC03M038125', 'score': 0.44}]
chr3 GH03I038268 38268201 38269000 0.31 [{'connected_gene': 'RNU6-235P', 'score': 12.88}, {'connected_gene': 'XYLB', 'score': 10.98}, {'connected_gene': 'ACAA1', 'score': 10.83}, {'connected_gene': 'MYD88', 'score': 10.83}, {'connected_gene': 'VILL', 'score': 9.62}, {'connected_gene': 'DLEC1', 'score': 4.26}, {'connected_gene': 'SLC22A13', 'score': 0.77}, {'connected_gene': 'LOC101409262', 'score': 0.77}, {'connected_gene': 'GC03M038270', 'score': 0.77}]
chr3 GH03I038124 38124850 38124999 0.57 [{'connected_gene': 'ENSG00000201965', 'score': 550.77}, {'connected_gene': 'GC03M038125', 'score': 550.77}, {'connected_gene': 'SLC22A14', 'score': 11.14}, {'connected_gene': 'LOC105377033', 'score': 0.77}, {'connected_gene': 'ACAA1', 'score': 0.39}]
chr3 GH03I038118 38118070 38118259 0.84 [{'connected_gene': 'PIR60395', 'score': 0.77}, {'connected_gene': 'LOC105377033', 'score': 0.77}, {'connected_gene': 'ACAA1', 'score': 0.37}, {'connected_gene': 'DLEC1', 'score': 0.18}]

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