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
ENST00000266688 [[80838125, 80838179], [80838520, 80838629], [80839270, 80839508], [80855626, 80855704], [80855762, 80855833], [80856196, 80856261], [80856303, 80856345], [80856357, 80856439], [80856507, 80856558], [80858970, 80859015], [80859252, 80859315], [80862488, 80862617], [80865883, 80866030], [80878211, 80878384], [80887053, 80887234], [80888711, 80888873], [80888970, 80889150], [80889777, 80889885], [80890028, 80890310], [80899802, 80899985], [80900347, 80900449], [80904101, 80904222], [80927793, 80927954], [80928670, 80928816], [80933554, 80933723], [80935333, 80935624], [80935867, 80936143], [80936508, 80936660], [80940334, 80940476], [80943243, 80943513], [80981907, 80982231], [80998837, 80998959], [81004217, 81004404], [81007370, 81007615], [81009978, 81010045], [81013162, 81013321], [81013932, 81014155], [81015839, 81015913], [81025970, 81026070], [81028723, 81028852], [81042675, 81042702], [81043366, 81043448], [81046522, 81046613], [81051763, 81051840], [81062785, 81062920], [81063117, 81063243], [81064122, 81064271], [81066947, 81067083], [81072380, 81072504], [81072764, 81072802]] [[80838125, 80838179], [80838520, 80838629], [80839270, 80839508], [80855626, 80855704], [80855762, 80855833], [80856196, 80856261], [80856303, 80856345], [80856357, 80856439], [80856507, 80856558], [80858970, 80859015], [80859252, 80859315], [80862488, 80862617], [80865883, 80866030], [80878211, 80878384], [80887053, 80887234], [80888711, 80888873], [80888970, 80889150], [80889777, 80889885], [80890028, 80890310], [80899802, 80899985], [80900347, 80900449], [80904101, 80904222], [80927793, 80927954], [80928670, 80928816], [80933554, 80933723], [80935333, 80935624], [80935867, 80936143], [80936508, 80936660], [80940334, 80940476], [80943243, 80943513], [80981907, 80982231], [80998837, 80998959], [81004217, 81004404], [81007370, 81007615], [81009978, 81010045], [81013162, 81013321], [81013932, 81014155], [81015839, 81015913], [81025970, 81026070], [81028723, 81028852], [81042675, 81042702], [81043366, 81043448], [81046522, 81046613], [81051763, 81051840], [81062785, 81062920], [81063117, 81063243], [81064122, 81064271], [81066947, 81067083], [81072380, 81072504], [81072764, 81072802]]
ENST00000551042 [[80799773, 80799840], [80803047, 80803237], [80803360, 80803665], [80805518, 80805794], [80814532, 80814679], [80816423, 80816554], [80816724, 80816928], [80818217, 80818368], [80818802, 80818909], [80821236, 80821331], [80828715, 80828881], [80837531, 80837692], [80838520, 80838629], [80839270, 80839497]] [[80818237, 80818368], [80818802, 80818909], [80821236, 80821331], [80828715, 80828881], [80837531, 80837692], [80838520, 80838629], [80839270, 80839497]]
ENST00000547376 [[80814530, 80814679], [80816423, 80816554], [80816724, 80816928], [80817476, 80817613], [80818217, 80818368], [80818802, 80818909], [80821236, 80821331], [80828715, 80828881], [80829904, 80830162], [80837531, 80837692], [80838520, 80838629], [80839270, 80839304]] [[80818237, 80818368], [80818802, 80818909], [80821236, 80821331], [80828715, 80828881], [80829904, 80830162], [80837531, 80837692], [80838520, 80838629], [80839270, 80839304]]
ENST00000551573 [[80814536, 80814679], [80816423, 80816554], [80818217, 80818368], [80818802, 80818909], [80821236, 80821331], [80828715, 80828881], [80837531, 80837692], [80838520, 80838629], [80839270, 80839304]] [[80816526, 80816554], [80818217, 80818368], [80818802, 80818909], [80821236, 80821331], [80828715, 80828881], [80837531, 80837692], [80838520, 80838629], [80839270, 80839304]]
ENST00000526956 [[80837947, 80838179], [80838520, 80838629], [80839270, 80839497]] None
ENST00000547485 [[80906420, 80906576], [80919690, 80919768], [80927793, 80927954], [80928670, 80928816], [80933554, 80933617]] None
ENST00000551624 [[80936034, 80936143], [80936508, 80936660], [80940334, 80940902]] None
ENST00000547881 [[81026000, 81026070], [81028723, 81028852], [81043366, 81043448], [81046522, 81046613], [81051763, 81051830]] [[81026000, 81026070], [81028723, 81028852], [81043366, 81043448], [81046522, 81046613], [81051763, 81051830]]
ENST00000549355 [[81028448, 81028852], [81043366, 81043448], [81046522, 81046603]] None
NM_001145026 [[80838125, 80838179], [80838520, 80838629], [80839270, 80839497], [80840806, 80840810], [80840811, 80840825], [80840826, 80840841], [80849305, 80849320], [80860616, 80860628], [80862484, 80862617], [80865883, 80866030], [80878211, 80878384], [80887053, 80887234], [80888711, 80888873], [80888970, 80889150], [80889777, 80889885], [80890028, 80890310], [80899802, 80899985], [80900347, 80900449], [80904101, 80904222], [80927793, 80927954], [80928670, 80928816], [80933554, 80933723], [80935333, 80935624], [80935867, 80936143], [80936508, 80936660], [80940334, 80940476], [80943243, 80943513], [80981907, 80982231], [80998837, 80998959], [81004217, 81004404], [81007370, 81007615], [81009978, 81010045], [81013162, 81013321], [81013932, 81014155], [81015839, 81015913], [81025970, 81026070], [81028723, 81028852], [81042675, 81042702], [81043366, 81043448], [81046522, 81046613], [81051763, 81051840], [81062785, 81062920], [81063117, 81063243], [81064122, 81064271], [81066947, 81067083], [81072380, 81072504], [81072764, 81073968]] [[80838125, 80838179], [80838520, 80838629], [80839270, 80839497], [80840806, 80840810], [80840811, 80840825], [80840826, 80840841], [80849305, 80849320], [80860616, 80860628], [80862484, 80862617], [80865883, 80866030], [80878211, 80878384], [80887053, 80887234], [80888711, 80888873], [80888970, 80889150], [80889777, 80889885], [80890028, 80890310], [80899802, 80899985], [80900347, 80900449], [80904101, 80904222], [80927793, 80927954], [80928670, 80928816], [80933554, 80933723], [80935333, 80935624], [80935867, 80936143], [80936508, 80936660], [80940334, 80940476], [80943243, 80943513], [80981907, 80982231], [80998837, 80998959], [81004217, 81004404], [81007370, 81007615], [81009978, 81010045], [81013162, 81013321], [81013932, 81014155], [81015839, 81015913], [81025970, 81026070], [81028723, 81028852], [81042675, 81042702], [81043366, 81043448], [81046522, 81046613], [81051763, 81051840], [81062785, 81062920], [81063117, 81063243], [81064122, 81064271], [81066947, 81067083], [81072380, 81072504], [81072764, 81072802]]
Promoter
Chrom Start End Description
chr12 80838029 80838066 CAGE_peak_1_at_PTPRQ_5end
chr12 80838067 80838088 CAGE_peak_2_at_PTPRQ_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I080648 80648502 80649450 0.78 [{'connected_gene': 'MYF5', 'score': 10.53}, {'connected_gene': 'GC12M080674', 'score': 0.26}, {'connected_gene': 'ENSG00000257429', 'score': 0.22}, {'connected_gene': 'PTPRQ', 'score': 0.07}]
chr12 GH12I080551 80551157 80554264 0.92 [{'connected_gene': 'MYF5', 'score': 10.27}, {'connected_gene': 'AKIRIN1P1', 'score': 0.44}, {'connected_gene': 'LOC105369867', 'score': 0.31}, {'connected_gene': 'PTPRQ', 'score': 0.1}]
chr12 GH12I080556 80556217 80557539 0.2 [{'connected_gene': 'MYF5', 'score': 10.27}, {'connected_gene': 'AKIRIN1P1', 'score': 0.77}, {'connected_gene': 'LOC105369867', 'score': 0.34}, {'connected_gene': 'PTPRQ', 'score': 0.1}]
chr12 GH12I080188 80188686 80190513 0.57 [{'connected_gene': 'PTPRQ', 'score': 9.69}, {'connected_gene': 'OTOGL', 'score': 0.22}, {'connected_gene': 'RN7SKP261', 'score': 0.1}]
chr12 GH12I080321 80321241 80322179 0.59 [{'connected_gene': 'PTPRQ', 'score': 6.44}, {'connected_gene': 'RN7SKP261', 'score': 0.34}, {'connected_gene': 'OTOGL', 'score': 0.08}]
chr12 GH12I080363 80363664 80363819 0.22 [{'connected_gene': 'PTPRQ', 'score': 6.03}, {'connected_gene': 'RN7SKP261', 'score': 0.37}, {'connected_gene': 'OTOGL', 'score': 0.07}]
chr12 GH12I080353 80353401 80353590 0.62 [{'connected_gene': 'PTPRQ', 'score': 20.95}, {'connected_gene': 'RN7SKP261', 'score': 0.44}, {'connected_gene': 'OTOGL', 'score': 0.07}]
chr12 GH12I080268 80268336 80270030 0.94 [{'connected_gene': 'PTPRQ', 'score': 6.38}, {'connected_gene': 'RN7SKP261', 'score': 0.19}, {'connected_gene': 'OTOGL', 'score': 0.12}]
chr12 GH12I080400 80400402 80401000 0.2 [{'connected_gene': 'PTPRQ', 'score': 563.89}, {'connected_gene': 'RN7SKP261', 'score': 0.22}]
chr12 GH12I080444 80444801 80445574 0.31 [{'connected_gene': 'PTPRQ', 'score': 17.4}, {'connected_gene': 'AKIRIN1P1', 'score': 0.13}]
chr12 GH12I080442 80442941 80443050 0.31 [{'connected_gene': 'PTPRQ', 'score': 8.37}, {'connected_gene': 'AKIRIN1P1', 'score': 0.13}]
chr12 GH12I080445 80445601 80445800 0.2 [{'connected_gene': 'PTPRQ', 'score': 10.34}, {'connected_gene': 'AKIRIN1P1', 'score': 0.13}]
chr12 GH12I080472 80472613 80474058 0.92 [{'connected_gene': 'PTPRQ', 'score': 0.19}, {'connected_gene': 'AKIRIN1P1', 'score': 0.17}]
chr12 GH12I080470 80470602 80470690 0.2 [{'connected_gene': 'PTPRQ', 'score': 0.2}, {'connected_gene': 'AKIRIN1P1', 'score': 0.16}]
chr12 GH12I080446 80444208 80444267 0.61 [{'connected_gene': 'PTPRQ', 'score': 560.34}, {'connected_gene': 'AKIRIN1P1', 'score': 0.13}]
chr12 GH12I080578 80578551 80583155 0.91 [{'connected_gene': 'LOC105369867', 'score': 550.77}, {'connected_gene': 'MYF5', 'score': 15.34}, {'connected_gene': 'ENSG00000257429', 'score': 0.39}, {'connected_gene': 'PTPRQ', 'score': 0.1}]
chr12 GH12I080585 80585025 80585882 0.2 [{'connected_gene': 'LOC105369867', 'score': 0.44}, {'connected_gene': 'ENSG00000257429', 'score': 0.44}, {'connected_gene': 'PTPRQ', 'score': 0.09}]
chr12 GH12I080576 80576266 80578060 0.2 [{'connected_gene': 'LOC105369867', 'score': 0.77}, {'connected_gene': 'AKIRIN1P1', 'score': 0.37}, {'connected_gene': 'PTPRQ', 'score': 0.09}]
chr12 GH12I080513 80513422 80513715 0.33 [{'connected_gene': 'AKIRIN1P1', 'score': 0.25}, {'connected_gene': 'PTPRQ', 'score': 0.14}]
chr12 GH12I080508 80508829 80511828 0.46 [{'connected_gene': 'AKIRIN1P1', 'score': 0.23}, {'connected_gene': 'PTPRQ', 'score': 0.14}]
chr12 GH12I080564 80564621 80566051 0.51 [{'connected_gene': 'AKIRIN1P1', 'score': 0.77}, {'connected_gene': 'LOC105369867', 'score': 0.37}, {'connected_gene': 'PTPRQ', 'score': 0.1}]
chr12 GH12I080566 80566658 80568842 0.31 [{'connected_gene': 'AKIRIN1P1', 'score': 0.44}, {'connected_gene': 'LOC105369867', 'score': 0.39}, {'connected_gene': 'PTPRQ', 'score': 0.1}]
chr12 GH12I080596 80596611 80598795 0.69 [{'connected_gene': 'ENSG00000257429', 'score': 0.77}, {'connected_gene': 'GC12M080674', 'score': 0.15}, {'connected_gene': 'PTPRQ', 'score': 0.08}]
chr12 GH12I080626 80626721 80629167 0.38 [{'connected_gene': 'ENSG00000257429', 'score': 0.29}, {'connected_gene': 'GC12M080674', 'score': 0.21}, {'connected_gene': 'PTPRQ', 'score': 0.07}]
chr12 GH12I080632 80632942 80633091 0.43 [{'connected_gene': 'ENSG00000257429', 'score': 0.28}, {'connected_gene': 'GC12M080674', 'score': 0.22}, {'connected_gene': 'PTPRQ', 'score': 0.07}]
chr12 GH12I080591 80591394 80595455 0.66 [{'connected_gene': 'ENSG00000257429', 'score': 550.77}, {'connected_gene': 'LOC105369867', 'score': 0.39}, {'connected_gene': 'PTPRQ', 'score': 0.08}]
chr12 GH12I080590 80590108 80590413 0.38 [{'connected_gene': 'ENSG00000257429', 'score': 0.77}, {'connected_gene': 'LOC105369867', 'score': 0.44}, {'connected_gene': 'PTPRQ', 'score': 0.09}]
chr12 GH12I080588 80588577 80589480 0.31 [{'connected_gene': 'ENSG00000257429', 'score': 0.77}, {'connected_gene': 'LOC105369867', 'score': 0.44}, {'connected_gene': 'PTPRQ', 'score': 0.09}]

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