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
ENST00000510861 [[46250443, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390733], [46477083, 46477247]] [[46252324, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
ENST00000514090 [[46250460, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390733], [46391227, 46391398]] [[46252324, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
ENST00000381620 [[46251359, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390733], [46391751, 46391945]] [[46252324, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
ENST00000356504 [[46251583, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46391396]] [[46252324, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
ENST00000540012 [[46251583, 46252621], [46258211, 46258391], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46388090, 46388206], [46390652, 46390733], [46391751, 46391805]] [[46252324, 46252621], [46258211, 46258391], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46388090, 46388180]]
ENST00000513005 [[46252305, 46252621], [46263942, 46264145], [46312189, 46312272], [46314512, 46314733], [46388090, 46388206], [46390652, 46390730]] [[46314719, 46314733], [46388090, 46388206], [46390652, 46390723]]
ENST00000510233 [[46252305, 46252621], [46263942, 46264145], [46305476, 46305629], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390730]] [[46305625, 46305629], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
ENST00000507069 [[46252305, 46252621], [46258211, 46258391], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390730]] [[46252324, 46252621], [46258211, 46258391], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
ENST00000515082 [[46262788, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390733], [46392278, 46392421]] [[46263897, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
ENST00000514236 [[46304523, 46304679], [46305190, 46305629], [46307584, 46307594]] [[46305468, 46305629], [46307584, 46307594]]
ENST00000514193 [[46307709, 46307728], [46312189, 46312272], [46314512, 46314733], [46388090, 46388206], [46390652, 46390733], [46391751, 46391805]] [[46314719, 46314733], [46388090, 46388206], [46390652, 46390723]]
ENST00000503806 [[46314533, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390733], [46391249, 46391380]] [[46314533, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
ENST00000506961 [[46314576, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390733], [46391239, 46391399]] [[46314576, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
ENST00000507460 [[46365731, 46371023], [46388090, 46388206], [46390652, 46390733], [46391244, 46391567]] [[46370988, 46371023], [46388090, 46388206], [46390652, 46390723]]
ENST00000509716 [[46388090, 46388206], [46388723, 46388892], [46390652, 46390730]] None
NM_001114175 [[46245564, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46391396]] [[46252324, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
NM_001330690 [[46245564, 46252621], [46258211, 46258391], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390733], [46391249, 46391567]] [[46252324, 46252621], [46258211, 46258391], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
NM_000807 [[46245564, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390733], [46391751, 46392085]] [[46252324, 46252621], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46334631, 46334699], [46388090, 46388206], [46390652, 46390723]]
NM_001286827 [[46245564, 46252621], [46258211, 46258391], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46388090, 46388206], [46390652, 46390733], [46391751, 46392085]] [[46252324, 46252621], [46258211, 46258391], [46263942, 46264145], [46305476, 46305629], [46307584, 46307728], [46312189, 46312272], [46314512, 46314733], [46388090, 46388180]]
Promoter
Chrom Start End Description
chr4 46307645 46307654 CAGE_peak_27_at_GABRA2_5end
chr4 46391040 46391059 CAGE_peak_10_at_GABRA2_5end
chr4 46391095 46391114 CAGE_peak_14_at_GABRA2_5end
chr4 46391248 46391261 CAGE_peak_16_at_GABRA2_5end
chr4 46391367 46391436 CAGE_peak_3_at_GABRA2_5end
chr4 46391457 46391464 CAGE_peak_22_at_GABRA2_5end
chr4 46391473 46391496 CAGE_peak_8_at_GABRA2_5end
chr4 46391569 46391580 CAGE_peak_17_at_GABRA2_5end
chr4 46391908 46391924 CAGE_peak_7_at_GABRA2_5end
chr4 46391931 46391948 CAGE_peak_4_at_GABRA2_5end
chr4 46391956 46392031 CAGE_peak_1_at_GABRA2_5end
chr4 46392075 46392090 CAGE_peak_5_at_GABRA2_5end
chr4 46392101 46392112 CAGE_peak_6_at_GABRA2_5end
chr4 46392115 46392163 CAGE_peak_2_at_GABRA2_5end
chr4 46392290 46392324 CAGE_peak_13_at_GABRA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I046507 46507024 46507173 0.31 [{'connected_gene': 'GABRA2', 'score': 15.97}, {'connected_gene': 'RNU6-412P', 'score': 11.73}, {'connected_gene': 'GC04M046470', 'score': 0.39}]
chr4 GH04I046388 46388924 46389532 1.16 [{'connected_gene': 'GABRA2', 'score': 559.38}, {'connected_gene': 'ENSG00000249330', 'score': 550.77}, {'connected_gene': 'ENSG00000260878', 'score': 0.11}]
chr4 GH04I046508 46508364 46508513 0.2 [{'connected_gene': 'RNU6-412P', 'score': 12.08}, {'connected_gene': 'GC04M046470', 'score': 0.39}, {'connected_gene': 'GABRA2', 'score': 0.29}]
chr4 GH04I046491 46491758 46492133 0.22 [{'connected_gene': 'RNU6-412P', 'score': 10.74}, {'connected_gene': 'GABRA2', 'score': 6.91}, {'connected_gene': 'GC04M046470', 'score': 0.31}]
chr4 GH04I046390 46390118 46390177 0.82 [{'connected_gene': 'ENSG00000249330', 'score': 550.77}, {'connected_gene': 'GABRA2', 'score': 550.17}, {'connected_gene': 'ENSG00000260878', 'score': 0.11}]
chr4 GH04I046405 46405084 46405233 0.2 [{'connected_gene': 'ENSG00000249330', 'score': 0.39}, {'connected_gene': 'GABRA2', 'score': 0.19}]
chr4 GH04I046389 46389970 46390029 0.84 [{'connected_gene': 'ENSG00000249330', 'score': 550.77}, {'connected_gene': 'GABRA2', 'score': 550.17}, {'connected_gene': 'ENSG00000260878', 'score': 0.11}]

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