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
ENST00000252593 [[17513747, 17514135], [17514488, 17514633], [17514937, 17514998], [17515179, 17515246], [17516099, 17516457]] [[17514503, 17514633], [17514937, 17514998], [17515179, 17515246], [17516099, 17516384]]
ENST00000533098 [[17514049, 17514135], [17514488, 17514633], [17514937, 17514998], [17515179, 17515346]] None
ENST00000527220 [[17514599, 17514633], [17514937, 17514998], [17516099, 17516339]] None
NM_004335 [[17513747, 17514135], [17514488, 17514633], [17514937, 17514998], [17515179, 17515246], [17516099, 17516457]] [[17514503, 17514633], [17514937, 17514998], [17515179, 17515246], [17516099, 17516384]]
Promoter
Chrom Start End Description
chr19 17516186 17516233 CAGE_peak_3_at_BST2_5end
chr19 17516364 17516447 CAGE_peak_1_at_BST2_5end
chr19 17516449 17516463 CAGE_peak_2_at_BST2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I017829 17829788 17831997 1.24 [{'connected_gene': 'MVB12A', 'score': 21.2}, {'connected_gene': 'ENSG00000268030', 'score': 21.16}, {'connected_gene': 'ENSG00000268938', 'score': 17.66}, {'connected_gene': 'COLGALT1', 'score': 15.5}, {'connected_gene': 'ENSG00000269191', 'score': 15.08}, {'connected_gene': 'B3GNT3', 'score': 13.06}, {'connected_gene': 'HAUS8', 'score': 12.44}, {'connected_gene': 'IQCN', 'score': 11.3}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'BST2', 'score': 10.14}, {'connected_gene': 'ENSG00000268743', 'score': 9.91}, {'connected_gene': 'INSL3', 'score': 6.15}, {'connected_gene': 'USE1', 'score': 5.26}, {'connected_gene': 'GC19M017837', 'score': 0.44}, {'connected_gene': 'JAK3', 'score': 0.37}]
chr19 GH19I017237 17237616 17238009 0.43 [{'connected_gene': 'MVB12A', 'score': 10.86}, {'connected_gene': 'BST2', 'score': 10.59}, {'connected_gene': 'OCEL1', 'score': 8.69}, {'connected_gene': 'GC19M017243', 'score': 0.44}, {'connected_gene': 'NR2F6', 'score': 0.44}, {'connected_gene': 'ENSG00000269095', 'score': 0.37}]
chr19 GH19I017238 17238518 17239045 0.43 [{'connected_gene': 'MVB12A', 'score': 10.86}, {'connected_gene': 'BST2', 'score': 10.59}, {'connected_gene': 'ANKLE1', 'score': 4.81}, {'connected_gene': 'GC19M017243', 'score': 0.44}, {'connected_gene': 'NR2F6', 'score': 0.44}, {'connected_gene': 'OCEL1', 'score': 0.39}, {'connected_gene': 'ENSG00000269095', 'score': 0.37}]
chr19 GH19I017429 17429672 17429901 0.2 [{'connected_gene': 'MVB12A', 'score': 12.64}, {'connected_gene': 'BST2', 'score': 12.64}, {'connected_gene': 'NXNL1', 'score': 12.34}, {'connected_gene': 'PLVAP', 'score': 11.58}, {'connected_gene': 'ENSG00000269481', 'score': 0.44}, {'connected_gene': 'TMEM221', 'score': 0.37}]
chr19 GH19I017403 17403058 17408075 2.22 [{'connected_gene': 'MVB12A', 'score': 590.85}, {'connected_gene': 'BISPR', 'score': 566.6}, {'connected_gene': 'BST2', 'score': 559.95}, {'connected_gene': 'ENSG00000267904', 'score': 29.5}, {'connected_gene': 'ENSG00000268087', 'score': 28.53}, {'connected_gene': 'CHERP', 'score': 26.81}, {'connected_gene': 'C19orf44', 'score': 24.38}, {'connected_gene': 'ENSG00000269578', 'score': 22.8}, {'connected_gene': 'ENSG00000268743', 'score': 12.96}, {'connected_gene': 'SMIM7', 'score': 12.86}, {'connected_gene': 'ENSG00000269427', 'score': 12.38}, {'connected_gene': 'PGLS', 'score': 12.0}, {'connected_gene': 'GTPBP3', 'score': 11.81}, {'connected_gene': 'COLGALT1', 'score': 10.69}, {'connected_gene': 'SIN3B', 'score': 4.97}, {'connected_gene': 'CCDC194', 'score': 0.39}, {'connected_gene': 'LOC105372343', 'score': 0.39}, {'connected_gene': 'GC19P020268', 'score': 0.28}]
chr19 GH19I017333 17333041 17335481 2.31 [{'connected_gene': 'GTPBP3', 'score': 582.64}, {'connected_gene': 'ANO8', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 52.22}, {'connected_gene': 'IQCN', 'score': 33.64}, {'connected_gene': 'C19orf44', 'score': 32.5}, {'connected_gene': 'ENSG00000267904', 'score': 32.11}, {'connected_gene': 'ENSG00000268743', 'score': 31.95}, {'connected_gene': 'ENSG00000268087', 'score': 29.86}, {'connected_gene': 'MRPL34', 'score': 28.41}, {'connected_gene': 'ENSG00000269578', 'score': 28.02}, {'connected_gene': 'MED26', 'score': 26.43}, {'connected_gene': 'MVB12A', 'score': 24.01}, {'connected_gene': 'SIN3B', 'score': 22.9}, {'connected_gene': 'ENSG00000269427', 'score': 21.15}, {'connected_gene': 'ABHD8', 'score': 13.43}, {'connected_gene': 'ANKLE1', 'score': 12.89}, {'connected_gene': 'DDA1', 'score': 12.73}, {'connected_gene': 'ENSG00000269044', 'score': 12.58}, {'connected_gene': 'COLGALT1', 'score': 12.14}, {'connected_gene': 'SMIM7', 'score': 12.02}, {'connected_gene': 'HAUS8', 'score': 11.8}, {'connected_gene': 'BST2', 'score': 11.15}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'ENSG00000269481', 'score': 10.11}, {'connected_gene': 'LOC100507551', 'score': 10.03}, {'connected_gene': 'PIR41076', 'score': 0.39}]
chr19 GH19I017336 17336092 17338619 2.35 [{'connected_gene': 'GTPBP3', 'score': 561.72}, {'connected_gene': 'CHERP', 'score': 155.59}, {'connected_gene': 'ENSG00000269578', 'score': 134.62}, {'connected_gene': 'ENSG00000268743', 'score': 85.51}, {'connected_gene': 'IQCN', 'score': 83.91}, {'connected_gene': 'COLGALT1', 'score': 66.83}, {'connected_gene': 'C19orf44', 'score': 66.54}, {'connected_gene': 'SIN3B', 'score': 58.74}, {'connected_gene': 'HAUS8', 'score': 56.73}, {'connected_gene': 'MVB12A', 'score': 46.08}, {'connected_gene': 'ENSG00000268087', 'score': 40.49}, {'connected_gene': 'ENSG00000267904', 'score': 37.5}, {'connected_gene': 'MED26', 'score': 35.43}, {'connected_gene': 'MRPL34', 'score': 23.74}, {'connected_gene': 'PLVAP', 'score': 22.62}, {'connected_gene': 'ENSG00000269044', 'score': 21.23}, {'connected_gene': 'ABHD8', 'score': 20.88}, {'connected_gene': 'SMIM7', 'score': 20.23}, {'connected_gene': 'BST2', 'score': 11.56}, {'connected_gene': 'NR2F6', 'score': 11.24}, {'connected_gene': 'ENSG00000269815', 'score': 11.15}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'JUND', 'score': 10.39}, {'connected_gene': 'ANKLE1', 'score': 6.64}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19 GH19I017358 17358191 17358746 0.69 [{'connected_gene': 'PLVAP', 'score': 19.06}, {'connected_gene': 'MVB12A', 'score': 12.85}, {'connected_gene': 'BST2', 'score': 11.5}, {'connected_gene': 'ENSG00000269350', 'score': 0.77}, {'connected_gene': 'GTPBP3', 'score': 0.34}]
chr19 GH19I017339 17339252 17339421 0.46 [{'connected_gene': 'PLVAP', 'score': 12.82}, {'connected_gene': 'MVB12A', 'score': 12.75}, {'connected_gene': 'BST2', 'score': 11.63}, {'connected_gene': 'NXNL1', 'score': 11.16}, {'connected_gene': 'GTPBP3', 'score': 0.77}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19 GH19I017552 17552634 17557081 2.36 [{'connected_gene': 'COLGALT1', 'score': 575.84}, {'connected_gene': 'ENSG00000269578', 'score': 42.85}, {'connected_gene': 'ENSG00000267904', 'score': 33.48}, {'connected_gene': 'ENSG00000268087', 'score': 33.44}, {'connected_gene': 'MVB12A', 'score': 31.4}, {'connected_gene': 'ENSG00000268938', 'score': 26.89}, {'connected_gene': 'ENSG00000268743', 'score': 26.8}, {'connected_gene': 'GTPBP3', 'score': 22.56}, {'connected_gene': 'IQCN', 'score': 20.92}, {'connected_gene': 'ENSG00000269191', 'score': 15.07}, {'connected_gene': 'PGLS', 'score': 14.12}, {'connected_gene': 'FAM129C', 'score': 12.68}, {'connected_gene': 'HAUS8', 'score': 12.46}, {'connected_gene': 'BST2', 'score': 11.19}, {'connected_gene': 'PLVAP', 'score': 11.1}, {'connected_gene': 'RPL18A', 'score': 10.53}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'PGPEP1', 'score': 5.55}, {'connected_gene': 'SLC27A1', 'score': 4.5}, {'connected_gene': 'MAP1S', 'score': 1.97}, {'connected_gene': 'ARRDC2', 'score': 1.59}, {'connected_gene': 'MYO9B', 'score': 1.45}, {'connected_gene': 'GC19M017549', 'score': 0.44}]
chr19 GH19I017529 17529401 17529600 0.68 [{'connected_gene': 'COLGALT1', 'score': 12.67}, {'connected_gene': 'MVB12A', 'score': 11.21}, {'connected_gene': 'BST2', 'score': 11.0}, {'connected_gene': 'FAM129C', 'score': 0.44}, {'connected_gene': 'GC19M017549', 'score': 0.37}]
chr19 GH19I017526 17526660 17527636 0.84 [{'connected_gene': 'COLGALT1', 'score': 12.67}, {'connected_gene': 'MVB12A', 'score': 11.21}, {'connected_gene': 'BST2', 'score': 11.0}, {'connected_gene': 'FAM129C', 'score': 0.77}, {'connected_gene': 'GC19M017549', 'score': 0.34}]
chr19 GH19I017234 17234277 17237438 1.61 [{'connected_gene': 'OCEL1', 'score': 11.99}, {'connected_gene': 'NR2F6', 'score': 11.52}, {'connected_gene': 'MVB12A', 'score': 10.86}, {'connected_gene': 'BST2', 'score': 10.59}, {'connected_gene': 'GTPBP3', 'score': 7.62}, {'connected_gene': 'GC19M017243', 'score': 0.44}, {'connected_gene': 'ENSG00000269095', 'score': 0.37}]
chr19 GH19I017340 17340044 17341673 1.26 [{'connected_gene': 'ABHD8', 'score': 20.61}, {'connected_gene': 'MRPL34', 'score': 15.57}, {'connected_gene': 'PLVAP', 'score': 12.82}, {'connected_gene': 'MVB12A', 'score': 12.75}, {'connected_gene': 'BST2', 'score': 11.63}, {'connected_gene': 'NXNL1', 'score': 11.16}, {'connected_gene': 'ANKLE1', 'score': 6.41}, {'connected_gene': 'CHERP', 'score': 5.09}, {'connected_gene': 'GTPBP3', 'score': 0.44}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19 GH19I017332 17332692 17332901 0.81 [{'connected_gene': 'ABHD8', 'score': 13.43}, {'connected_gene': 'MRPL34', 'score': 13.35}, {'connected_gene': 'DDA1', 'score': 12.73}, {'connected_gene': 'MVB12A', 'score': 11.44}, {'connected_gene': 'BST2', 'score': 11.15}, {'connected_gene': 'ANO8', 'score': 0.77}, {'connected_gene': 'PIR41076', 'score': 0.39}]
chr19 GH19I017338 17338772 17339186 0.74 [{'connected_gene': 'MRPL34', 'score': 15.46}, {'connected_gene': 'PLVAP', 'score': 12.82}, {'connected_gene': 'MVB12A', 'score': 12.75}, {'connected_gene': 'BST2', 'score': 11.63}, {'connected_gene': 'NR2F6', 'score': 11.24}, {'connected_gene': 'NXNL1', 'score': 11.16}, {'connected_gene': 'GTPBP3', 'score': 0.77}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19 GH19I017326 17326150 17330824 1.21 [{'connected_gene': 'MRPL34', 'score': 36.49}, {'connected_gene': 'ABHD8', 'score': 17.39}, {'connected_gene': 'MVB12A', 'score': 11.43}, {'connected_gene': 'BST2', 'score': 11.14}, {'connected_gene': 'PLVAP', 'score': 8.4}, {'connected_gene': 'ANO8', 'score': 0.44}, {'connected_gene': 'PIR41076', 'score': 0.44}]
chr19 GH19I017239 17239839 17250193 2.3 [{'connected_gene': 'NR2F6', 'score': 568.47}, {'connected_gene': 'GC19M017243', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 26.13}, {'connected_gene': 'ENSG00000267904', 'score': 25.16}, {'connected_gene': 'MVB12A', 'score': 22.31}, {'connected_gene': 'GTPBP3', 'score': 19.74}, {'connected_gene': 'C19orf44', 'score': 15.84}, {'connected_gene': 'ENSG00000268087', 'score': 14.7}, {'connected_gene': 'OCEL1', 'score': 14.69}, {'connected_gene': 'ENSG00000268743', 'score': 12.98}, {'connected_gene': 'ENSG00000269578', 'score': 11.19}, {'connected_gene': 'FCHO1', 'score': 10.66}, {'connected_gene': 'BST2', 'score': 10.58}, {'connected_gene': 'CPAMD8', 'score': 10.53}, {'connected_gene': 'RPL18A', 'score': 10.5}, {'connected_gene': 'BABAM1', 'score': 8.33}, {'connected_gene': 'ABHD8', 'score': 8.18}, {'connected_gene': 'MRPL34', 'score': 7.11}, {'connected_gene': 'ANKLE1', 'score': 5.4}, {'connected_gene': 'ENSG00000269427', 'score': 5.04}, {'connected_gene': 'UNC13A', 'score': 4.42}, {'connected_gene': 'ENSG00000269095', 'score': 0.39}, {'connected_gene': 'USHBP1', 'score': 0.28}]
chr19 GH19I017561 17561201 17561722 0.51 [{'connected_gene': 'FAM129C', 'score': 12.67}, {'connected_gene': 'PGLS', 'score': 12.64}, {'connected_gene': 'MVB12A', 'score': 11.18}, {'connected_gene': 'BST2', 'score': 11.18}, {'connected_gene': 'PLVAP', 'score': 11.09}, {'connected_gene': 'COLGALT1', 'score': 0.44}, {'connected_gene': 'GC19M017590', 'score': 0.31}]
chr19 GH19I017398 17398712 17399600 0.77 [{'connected_gene': 'CCDC194', 'score': 0.77}, {'connected_gene': 'LOC105372343', 'score': 0.77}, {'connected_gene': 'BST2', 'score': 0.44}, {'connected_gene': 'GC19P020268', 'score': 0.31}]
chr19 GH19I017394 17394652 17395721 1.41 [{'connected_gene': 'CCDC194', 'score': 550.77}, {'connected_gene': 'LOC105372343', 'score': 550.77}, {'connected_gene': 'BISPR', 'score': 12.1}, {'connected_gene': 'BST2', 'score': 7.24}, {'connected_gene': 'GC19P020268', 'score': 0.31}]
chr19 GH19I017401 17401429 17402058 0.31 [{'connected_gene': 'BISPR', 'score': 15.45}, {'connected_gene': 'BST2', 'score': 0.77}, {'connected_gene': 'CCDC194', 'score': 0.44}, {'connected_gene': 'LOC105372343', 'score': 0.44}, {'connected_gene': 'GC19P020268', 'score': 0.29}]
chr19 GH19I017254 17254936 17255754 1.02 [{'connected_gene': 'ENSG00000269095', 'score': 550.77}, {'connected_gene': 'MVB12A', 'score': 11.47}, {'connected_gene': 'CPAMD8', 'score': 10.53}, {'connected_gene': 'BST2', 'score': 10.44}, {'connected_gene': 'GTPBP3', 'score': 8.74}, {'connected_gene': 'ABHD8', 'score': 8.42}, {'connected_gene': 'NR2F6', 'score': 6.74}, {'connected_gene': 'GC19P020254', 'score': 0.77}, {'connected_gene': 'USHBP1', 'score': 0.31}]
chr19 GH19I017321 17321549 17325425 0.77 [{'connected_gene': 'PIR41076', 'score': 550.77}, {'connected_gene': 'MRPL34', 'score': 36.52}, {'connected_gene': 'ABHD8', 'score': 14.81}, {'connected_gene': 'MVB12A', 'score': 11.42}, {'connected_gene': 'BST2', 'score': 11.13}, {'connected_gene': 'ANO8', 'score': 0.39}, {'connected_gene': 'DDA1', 'score': 0.39}]
chr19 GH19I017559 17559116 17561138 0.52 [{'connected_gene': 'ENSG00000268743', 'score': 12.95}, {'connected_gene': 'FAM129C', 'score': 12.67}, {'connected_gene': 'PGLS', 'score': 12.64}, {'connected_gene': 'MVB12A', 'score': 11.18}, {'connected_gene': 'BST2', 'score': 11.18}, {'connected_gene': 'PLVAP', 'score': 11.09}, {'connected_gene': 'ENSG00000267904', 'score': 10.6}, {'connected_gene': 'COLGALT1', 'score': 7.46}, {'connected_gene': 'GC19M017590', 'score': 0.31}]

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