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
ENST00000379611 [[114602884, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615465], [114620483, 114620605], [114632123, 114632528]] [[114603572, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615465], [114620483, 114620605], [114632123, 114632240]]
ENST00000512261 [[114603051, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615465], [114616048, 114616177], [114620483, 114620605], [114631606, 114631762]] [[114603572, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615455]]
ENST00000506442 [[114603071, 114603615], [114604578, 114604697], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615465], [114620483, 114620605], [114632123, 114632390]] [[114603572, 114603615], [114604578, 114604697], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615455]]
ENST00000395557 [[114603335, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615465], [114620483, 114620605], [114631606, 114631965]] [[114603572, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615455]]
ENST00000502975 [[114605295, 114605495], [114606909, 114607307]] None
ENST00000513730 [[114611031, 114611303], [114611690, 114611766], [114612661, 114612882]] None
ENST00000503027 [[114611035, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615465], [114632123, 114632320]] None
NM_152549 [[114602884, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615465], [114620483, 114620605], [114631606, 114631987]] [[114603572, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615455]]
NM_001040440 [[114602884, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615465], [114620483, 114620605], [114632123, 114632458]] [[114603572, 114603615], [114604578, 114604697], [114605399, 114605495], [114606909, 114607323], [114610912, 114611303], [114611690, 114611766], [114612661, 114612751], [114615343, 114615465], [114620483, 114620605], [114632123, 114632240]]
Promoter
Chrom Start End Description
chr5 114607144 114607156 CAGE_peak_9_at_CCDC112_5end
chr5 114631943 114631955 CAGE_peak_11_at_CCDC112_5end
chr5 114631958 114631990 CAGE_peak_6_at_CCDC112_5end
chr5 114632288 114632299 CAGE_peak_4_at_CCDC112_5end
chr5 114632307 114632381 CAGE_peak_1_at_CCDC112_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I115271 115271201 115272200 0.2 [{'connected_gene': 'RPS2P26', 'score': 0.44}, {'connected_gene': 'HMGN1P15', 'score': 0.37}, {'connected_gene': 'CCDC112', 'score': 0.31}]
chr5 GH05I115274 115274401 115275000 0.2 [{'connected_gene': 'RPS2P26', 'score': 0.44}, {'connected_gene': 'HMGN1P15', 'score': 0.39}, {'connected_gene': 'CCDC112', 'score': 0.34}]
chr5 GH05I115582 115582892 115584234 0.52 [{'connected_gene': 'FEM1C', 'score': 11.86}, {'connected_gene': 'CCDC112', 'score': 11.24}, {'connected_gene': 'LOC101927100', 'score': 8.05}, {'connected_gene': 'TICAM2', 'score': 6.59}, {'connected_gene': 'TMED7', 'score': 4.8}, {'connected_gene': 'GC05P115578', 'score': 0.77}, {'connected_gene': 'TMED7-TICAM2', 'score': 0.26}]
chr5 GH05I115169 115169000 115171488 2.27 [{'connected_gene': 'TRIM36', 'score': 555.31}, {'connected_gene': 'CCDC112', 'score': 1.55}, {'connected_gene': 'TRIM36-IT1', 'score': 0.34}]
chr5 GH05I115261 115261544 115263700 2.05 [{'connected_gene': 'PGGT1B', 'score': 561.98}, {'connected_gene': 'ENSG00000271797', 'score': 550.77}, {'connected_gene': 'ATG12', 'score': 13.06}, {'connected_gene': 'CCDC112', 'score': 4.91}]
chr5 GH05I115549 115549244 115549433 0.68 [{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.25}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.77}, {'connected_gene': 'GC05P115575', 'score': 0.31}]
chr5 GH05I115551 115551004 115551943 0.62 [{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.26}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'GC05P115575', 'score': 0.34}]
chr5 GH05I115476 115476661 115476784 0.22 [{'connected_gene': 'CCDC112', 'score': 1.48}, {'connected_gene': 'GC05M115471', 'score': 0.44}, {'connected_gene': 'AK3P4', 'score': 0.19}]
chr5 GH05I115295 115295600 115297233 1.91 [{'connected_gene': 'LOC105379129', 'score': 550.77}, {'connected_gene': 'CCDC112', 'score': 550.77}, {'connected_gene': 'PGGT1B', 'score': 4.89}, {'connected_gene': 'HMGN1P15', 'score': 0.44}]
chr5 GH05I115288 115288801 115289200 0.2 [{'connected_gene': 'HMGN1P15', 'score': 550.77}, {'connected_gene': 'RPS2P26', 'score': 11.86}, {'connected_gene': 'PGGT1B', 'score': 11.83}, {'connected_gene': 'TICAM2', 'score': 10.37}, {'connected_gene': 'LOC101927100', 'score': 10.37}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.36}, {'connected_gene': 'CCDC112', 'score': 0.44}]
chr5 GH05I115579 115579344 115579493 0.31 [{'connected_gene': 'GC05P115579', 'score': 550.77}, {'connected_gene': 'GC05P115578', 'score': 550.77}, {'connected_gene': 'FEM1C', 'score': 11.89}, {'connected_gene': 'TICAM2', 'score': 11.68}, {'connected_gene': 'LOC101927100', 'score': 11.68}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.59}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7', 'score': 10.91}]
chr5 GH05I115575 115575192 115576827 0.49 [{'connected_gene': 'GC05P115575', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 20.12}, {'connected_gene': 'LOC101927100', 'score': 19.32}, {'connected_gene': 'FEM1C', 'score': 11.89}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.58}, {'connected_gene': 'TMED7', 'score': 10.9}, {'connected_gene': 'GC05P115579', 'score': 0.77}]
chr5 GH05I115574 115574724 115574813 0.59 [{'connected_gene': 'GC05P115575', 'score': 550.77}, {'connected_gene': 'LOC101927100', 'score': 17.93}, {'connected_gene': 'FEM1C', 'score': 11.91}, {'connected_gene': 'TICAM2', 'score': 11.66}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.58}, {'connected_gene': 'TMED7', 'score': 10.9}]

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