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
ENST00000248071 [[16435627, 16435809], [16436026, 16436843], [16437666, 16438685]] [[16435734, 16435809], [16436026, 16436843], [16437666, 16437842]]
ENST00000592003 [[16435650, 16435809], [16437666, 16438071]] [[16435734, 16435809], [16437666, 16437828]]
NM_016270 [[16435636, 16435809], [16436026, 16436843], [16437666, 16439473]] [[16435734, 16435809], [16436026, 16436843], [16437666, 16437842]]
Promoter
Chrom Start End Description
chr19 16435423 16435484 CAGE_peak_5_at_KLF2_5end
chr19 16435523 16435619 CAGE_peak_2_at_KLF2_5end
chr19 16435625 16435682 CAGE_peak_1_at_KLF2_5end
chr19 16435705 16435726 CAGE_peak_3_at_KLF2_5end
chr19 16435735 16435773 CAGE_peak_4_at_KLF2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I016247 16247210 16248121 1.01 [{'connected_gene': 'AP1M1', 'score': 20.38}, {'connected_gene': 'CHERP', 'score': 16.73}, {'connected_gene': 'C19orf44', 'score': 15.89}, {'connected_gene': 'AKAP8', 'score': 13.86}, {'connected_gene': 'ENSG00000268743', 'score': 12.96}, {'connected_gene': 'KLF2', 'score': 12.27}, {'connected_gene': 'ENSG00000267904', 'score': 10.63}, {'connected_gene': 'OCEL1', 'score': 4.36}, {'connected_gene': 'GC19M016240', 'score': 0.44}, {'connected_gene': 'PIR54763', 'score': 0.25}, {'connected_gene': 'GC19M016221', 'score': 0.05}]
chr19 GH19I016160 16160450 16162642 1.26 [{'connected_gene': 'AP1M1', 'score': 7.58}, {'connected_gene': 'KLF2', 'score': 6.24}, {'connected_gene': 'CIB3', 'score': 0.39}, {'connected_gene': 'ENSG00000269243', 'score': 0.34}]
chr19 GH19I016243 16243942 16244579 0.38 [{'connected_gene': 'AP1M1', 'score': 26.7}, {'connected_gene': 'KLF2', 'score': 12.26}, {'connected_gene': 'GC19M016240', 'score': 0.77}, {'connected_gene': 'PIR54763', 'score': 0.25}, {'connected_gene': 'GC19M016221', 'score': 0.05}]
chr19 GH19I016593 16593409 16595538 1.4 [{'connected_gene': 'C19orf44', 'score': 21.49}, {'connected_gene': 'SLC35E1', 'score': 12.6}, {'connected_gene': 'RN7SL146P', 'score': 11.76}, {'connected_gene': 'CHERP', 'score': 11.76}, {'connected_gene': 'ENSG00000141979', 'score': 11.35}, {'connected_gene': 'MED26', 'score': 4.96}, {'connected_gene': 'KLF2', 'score': 4.59}, {'connected_gene': 'GC19M016221', 'score': 0.77}, {'connected_gene': 'ENSG00000268087', 'score': 0.37}, {'connected_gene': 'ENSG00000268790', 'score': 0.2}]
chr19 GH19I016393 16393701 16395385 0.64 [{'connected_gene': 'C19orf44', 'score': 46.57}, {'connected_gene': 'ENSG00000268743', 'score': 23.99}, {'connected_gene': 'SIN3B', 'score': 20.85}, {'connected_gene': 'ENSG00000269578', 'score': 16.34}, {'connected_gene': 'CHERP', 'score': 13.7}, {'connected_gene': 'KLF2', 'score': 11.54}, {'connected_gene': 'EPS15L1', 'score': 11.51}, {'connected_gene': 'ENSG00000268087', 'score': 10.82}, {'connected_gene': 'ENSG00000141979', 'score': 10.76}, {'connected_gene': 'AP1M1', 'score': 10.67}, {'connected_gene': 'ENSG00000267904', 'score': 10.32}, {'connected_gene': 'SMIM7', 'score': 10.26}, {'connected_gene': 'AKAP8L', 'score': 10.23}, {'connected_gene': 'GTPBP3', 'score': 10.01}, {'connected_gene': 'GC19M016398', 'score': 0.77}, {'connected_gene': 'GC19P020263', 'score': 0.31}, {'connected_gene': 'GC19M016221', 'score': 0.08}]
chr19 GH19I016380 16380327 16385126 1.34 [{'connected_gene': 'C19orf44', 'score': 7.84}, {'connected_gene': 'KLF2', 'score': 6.1}, {'connected_gene': 'GTPBP3', 'score': 5.1}, {'connected_gene': 'GC19P020263', 'score': 0.37}, {'connected_gene': 'GC19M016398', 'score': 0.37}, {'connected_gene': 'EPS15L1', 'score': 0.17}, {'connected_gene': 'GC19M016221', 'score': 0.08}]
chr19 GH19I016658 16658778 16662442 2.08 [{'connected_gene': 'TMEM38A', 'score': 574.63}, {'connected_gene': 'SMIM7', 'score': 571.24}, {'connected_gene': 'GC19P020284', 'score': 550.77}, {'connected_gene': 'ENSG00000268790', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 60.71}, {'connected_gene': 'ENSG00000268743', 'score': 50.14}, {'connected_gene': 'ENSG00000269578', 'score': 39.81}, {'connected_gene': 'C19orf44', 'score': 32.99}, {'connected_gene': 'MED26', 'score': 32.9}, {'connected_gene': 'HAUS8', 'score': 27.64}, {'connected_gene': 'COLGALT1', 'score': 20.85}, {'connected_gene': 'ENSG00000268087', 'score': 19.08}, {'connected_gene': 'SIN3B', 'score': 11.85}, {'connected_gene': 'TPM4', 'score': 10.74}, {'connected_gene': 'ENSG00000267904', 'score': 10.62}, {'connected_gene': 'RAB8A', 'score': 10.05}, {'connected_gene': 'GTPBP3', 'score': 10.02}, {'connected_gene': 'KLF2', 'score': 4.99}]
chr19 GH19I016337 16337410 16340399 1.44 [{'connected_gene': 'EPS15L1', 'score': 5.85}, {'connected_gene': 'C19orf44', 'score': 5.22}, {'connected_gene': 'OCEL1', 'score': 4.72}, {'connected_gene': 'KLF2', 'score': 3.67}, {'connected_gene': 'RAB8A', 'score': 1.18}, {'connected_gene': 'ENSG00000277825', 'score': 0.39}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016442 16442496 16451320 1.74 [{'connected_gene': 'EPS15L1', 'score': 34.36}, {'connected_gene': 'C19orf44', 'score': 20.32}, {'connected_gene': 'ENSG00000141979', 'score': 12.09}, {'connected_gene': 'CHERP', 'score': 10.39}, {'connected_gene': 'RAB8A', 'score': 6.17}, {'connected_gene': 'MED26', 'score': 5.55}, {'connected_gene': 'HSH2D', 'score': 5.49}, {'connected_gene': 'SMIM7', 'score': 5.1}, {'connected_gene': 'GTPBP3', 'score': 5.05}, {'connected_gene': 'KLF2', 'score': 2.63}, {'connected_gene': 'GC19P020259', 'score': 0.44}, {'connected_gene': 'ENSG00000267703', 'score': 0.44}, {'connected_gene': 'GC19M016221', 'score': 0.11}]
chr19 GH19I016349 16349437 16350160 0.46 [{'connected_gene': 'EPS15L1', 'score': 16.12}, {'connected_gene': 'KLF2', 'score': 12.57}, {'connected_gene': 'C19orf44', 'score': 9.44}, {'connected_gene': 'ENSG00000277825', 'score': 0.77}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016184 16184714 16186598 1.99 [{'connected_gene': 'FAM32A', 'score': 550.77}, {'connected_gene': 'ENSG00000275901', 'score': 550.77}, {'connected_gene': 'MED26', 'score': 19.36}, {'connected_gene': 'HAUS8', 'score': 13.88}, {'connected_gene': 'CHERP', 'score': 13.09}, {'connected_gene': 'AKAP8', 'score': 10.58}, {'connected_gene': 'C19orf44', 'score': 10.54}, {'connected_gene': 'BRD4', 'score': 10.21}, {'connected_gene': 'ENSG00000268743', 'score': 10.21}, {'connected_gene': 'AP1M1', 'score': 8.54}, {'connected_gene': 'KLF2', 'score': 7.69}, {'connected_gene': 'ENSG00000267033', 'score': 0.77}]
chr19 GH19I016341 16341197 16343832 1.41 [{'connected_gene': 'KLF2', 'score': 6.54}, {'connected_gene': 'C19orf44', 'score': 5.09}, {'connected_gene': 'MED26', 'score': 4.05}, {'connected_gene': 'NWD1', 'score': 1.93}, {'connected_gene': 'ENSG00000277825', 'score': 0.39}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016375 16375651 16376436 0.4 [{'connected_gene': 'KLF2', 'score': 11.75}, {'connected_gene': 'C19orf44', 'score': 6.25}, {'connected_gene': 'GC19P020263', 'score': 0.39}, {'connected_gene': 'GC19M016398', 'score': 0.34}, {'connected_gene': 'EPS15L1', 'score': 0.15}, {'connected_gene': 'GC19M016221', 'score': 0.08}]
chr19 GH19I016323 16323468 16332536 2.48 [{'connected_gene': 'KLF2', 'score': 558.7}, {'connected_gene': 'C19orf44', 'score': 13.83}, {'connected_gene': 'SIN3B', 'score': 12.26}, {'connected_gene': 'CHERP', 'score': 10.35}, {'connected_gene': 'ENSG00000269578', 'score': 9.92}, {'connected_gene': 'ENSG00000268743', 'score': 9.89}, {'connected_gene': 'EPS15L1', 'score': 9.85}, {'connected_gene': 'MED26', 'score': 7.86}, {'connected_gene': 'TMEM38A', 'score': 4.91}, {'connected_gene': 'NR2F6', 'score': 4.9}, {'connected_gene': 'RAB8A', 'score': 4.67}, {'connected_gene': 'HSH2D', 'score': 2.89}, {'connected_gene': 'ENSG00000267275', 'score': 0.77}, {'connected_gene': 'ENSG00000277825', 'score': 0.31}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016362 16362539 16374819 1.71 [{'connected_gene': 'KLF2', 'score': 33.35}, {'connected_gene': 'SMIM7', 'score': 25.9}, {'connected_gene': 'C19orf44', 'score': 16.87}, {'connected_gene': 'CYP4F24P', 'score': 13.36}, {'connected_gene': 'ENSG00000269044', 'score': 12.9}, {'connected_gene': 'ENSG00000269427', 'score': 12.82}, {'connected_gene': 'AP1M1', 'score': 11.31}, {'connected_gene': 'EPS15L1', 'score': 10.78}, {'connected_gene': 'GTPBP3', 'score': 5.03}, {'connected_gene': 'MED26', 'score': 4.87}, {'connected_gene': 'GC19P020263', 'score': 0.77}, {'connected_gene': 'GC19M016398', 'score': 0.29}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016347 16347123 16348849 0.43 [{'connected_gene': 'KLF2', 'score': 12.57}, {'connected_gene': 'EPS15L1', 'score': 10.11}, {'connected_gene': 'ENSG00000269044', 'score': 4.61}, {'connected_gene': 'ENSG00000277825', 'score': 0.44}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016376 16376750 16376939 0.63 [{'connected_gene': 'KLF2', 'score': 11.75}, {'connected_gene': 'GC19P020263', 'score': 0.39}, {'connected_gene': 'GC19M016398', 'score': 0.34}, {'connected_gene': 'EPS15L1', 'score': 0.15}, {'connected_gene': 'GC19M016221', 'score': 0.08}]
chr19 GH19I016180 16180106 16181249 0.43 [{'connected_gene': 'KLF2', 'score': 8.07}, {'connected_gene': 'FAM32A', 'score': 0.77}, {'connected_gene': 'GC19M016168', 'score': 0.44}]
chr19 GH19I016334 16334508 16334684 0.86 [{'connected_gene': 'KLF2', 'score': 0.44}, {'connected_gene': 'ENSG00000277825', 'score': 0.37}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016335 16335330 16335479 0.51 [{'connected_gene': 'KLF2', 'score': 0.39}, {'connected_gene': 'ENSG00000277825', 'score': 0.37}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016324 16323050 16323199 0.66 [{'connected_gene': 'KLF2', 'score': 550.77}, {'connected_gene': 'ENSG00000267275', 'score': 550.77}, {'connected_gene': 'PIR54763', 'score': 0.31}, {'connected_gene': 'GC19M016221', 'score': 0.06}]
chr19 GH19I016301 16301806 16302739 0.72 [{'connected_gene': 'KLF2', 'score': 12.67}, {'connected_gene': 'PIR54763', 'score': 0.44}, {'connected_gene': 'ENSG00000267275', 'score': 0.34}, {'connected_gene': 'GC19M016221', 'score': 0.06}]
chr19 GH19I016282 16282098 16287510 1.43 [{'connected_gene': 'AKAP8', 'score': 17.1}, {'connected_gene': 'KLF2', 'score': 14.85}, {'connected_gene': 'TPM4', 'score': 13.98}, {'connected_gene': 'HAUS8', 'score': 11.52}, {'connected_gene': 'BRD4', 'score': 11.34}, {'connected_gene': 'LINC01835', 'score': 11.18}, {'connected_gene': 'CHERP', 'score': 10.68}, {'connected_gene': 'ENSG00000269578', 'score': 9.9}, {'connected_gene': 'NWD1', 'score': 1.34}, {'connected_gene': 'PIR54763', 'score': 0.44}, {'connected_gene': 'ENSG00000267275', 'score': 0.28}, {'connected_gene': 'GC19M016240', 'score': 0.26}, {'connected_gene': 'GC19M016221', 'score': 0.06}]
chr19 GH19I016237 16237772 16238927 0.63 [{'connected_gene': 'GC19M016236', 'score': 550.77}, {'connected_gene': 'AP1M1', 'score': 27.32}, {'connected_gene': 'KLF2', 'score': 12.25}, {'connected_gene': 'C19orf44', 'score': 10.28}, {'connected_gene': 'ENSG00000141979', 'score': 10.26}, {'connected_gene': 'GC19M016240', 'score': 0.77}, {'connected_gene': 'GC19M016221', 'score': 0.05}]
chr19 GH19I016579 16579507 16590439 1.66 [{'connected_gene': 'ENSG00000279748', 'score': 550.77}, {'connected_gene': 'PIR54965', 'score': 550.77}, {'connected_gene': 'C19orf44', 'score': 21.5}, {'connected_gene': 'ENSG00000141979', 'score': 11.32}, {'connected_gene': 'MED26', 'score': 7.93}, {'connected_gene': 'ENSG00000269044', 'score': 6.71}, {'connected_gene': 'ABHD8', 'score': 4.86}, {'connected_gene': 'MYO9B', 'score': 4.03}, {'connected_gene': 'RAB8A', 'score': 2.92}, {'connected_gene': 'KLF2', 'score': 2.4}, {'connected_gene': 'HAUS8', 'score': 2.03}, {'connected_gene': 'ENSG00000269578', 'score': 0.77}, {'connected_gene': 'GC19M016221', 'score': 0.44}, {'connected_gene': 'ENSG00000268790', 'score': 0.18}]
chr19 GH19I016396 16396779 16400134 1.16 [{'connected_gene': 'GC19M016398', 'score': 550.77}, {'connected_gene': 'ENSG00000269427', 'score': 20.29}, {'connected_gene': 'EPS15L1', 'score': 17.71}, {'connected_gene': 'KLF2', 'score': 13.17}, {'connected_gene': 'CYP4F24P', 'score': 12.94}, {'connected_gene': 'AP1M1', 'score': 10.67}, {'connected_gene': 'C19orf44', 'score': 5.83}, {'connected_gene': 'ENSG00000269044', 'score': 5.29}, {'connected_gene': 'GTPBP3', 'score': 5.12}, {'connected_gene': 'RAB8A', 'score': 3.91}, {'connected_gene': 'MED26', 'score': 3.59}, {'connected_gene': 'HSH2D', 'score': 3.01}, {'connected_gene': 'GC19P020263', 'score': 0.29}, {'connected_gene': 'GC19M016221', 'score': 0.08}]
chr19 GH19I016239 16239001 16239200 0.2 [{'connected_gene': 'GC19M016236', 'score': 550.77}, {'connected_gene': 'KLF2', 'score': 12.25}, {'connected_gene': 'AP1M1', 'score': 11.64}, {'connected_gene': 'GC19M016240', 'score': 0.77}, {'connected_gene': 'GC19M016221', 'score': 0.05}]
chr19 GH19I016351 16351207 16351856 1.29 [{'connected_gene': 'ENSG00000277825', 'score': 550.77}, {'connected_gene': 'KLF2', 'score': 12.54}, {'connected_gene': 'EPS15L1', 'score': 10.11}, {'connected_gene': 'CIB3', 'score': 1.64}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016345 16345831 16347002 0.52 [{'connected_gene': 'ENSG00000277825', 'score': 0.44}, {'connected_gene': 'KLF2', 'score': 0.34}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I016346 16345401 16345600 0.72 [{'connected_gene': 'ENSG00000277825', 'score': 0.44}, {'connected_gene': 'KLF2', 'score': 0.34}, {'connected_gene': 'GC19M016221', 'score': 0.07}]
chr19 GH19I015826 15826293 15839236 2.3 [{'connected_gene': 'ENSG00000273782', 'score': 550.77}, {'connected_gene': 'AKAP8', 'score': 33.0}, {'connected_gene': 'MED26', 'score': 29.77}, {'connected_gene': 'ENSG00000269578', 'score': 25.76}, {'connected_gene': 'BRD4', 'score': 19.07}, {'connected_gene': 'CYP4F24P', 'score': 18.75}, {'connected_gene': 'UCA1', 'score': 16.34}, {'connected_gene': 'OR10H4', 'score': 14.64}, {'connected_gene': 'CHERP', 'score': 13.06}, {'connected_gene': 'OR10H5', 'score': 11.7}, {'connected_gene': 'ENSG00000268087', 'score': 11.39}, {'connected_gene': 'CYP4F12', 'score': 11.24}, {'connected_gene': 'CYP4F11', 'score': 11.16}, {'connected_gene': 'C19orf44', 'score': 10.51}, {'connected_gene': 'TPM4', 'score': 10.39}, {'connected_gene': 'ENSG00000267904', 'score': 10.13}, {'connected_gene': 'RAB8A', 'score': 9.95}, {'connected_gene': 'SIN3B', 'score': 9.83}, {'connected_gene': 'OR10H3', 'score': 9.44}, {'connected_gene': 'OR10H2', 'score': 8.08}, {'connected_gene': 'LINC01835', 'score': 6.91}, {'connected_gene': 'RASAL3', 'score': 4.74}, {'connected_gene': 'KLF2', 'score': 3.17}, {'connected_gene': 'AKAP8L', 'score': 1.97}, {'connected_gene': 'AP1M1', 'score': 1.3}, {'connected_gene': 'GC19M015831', 'score': 0.77}, {'connected_gene': 'GC19M015836', 'score': 0.77}, {'connected_gene': 'LINC01764', 'score': 0.77}, {'connected_gene': 'GC19P015826', 'score': 0.44}]

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