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
ENST00000182527 [[52362199, 52368068], [52369388, 52369552], [52370396, 52370540], [52370829, 52370934], [52372350, 52372421], [52373031, 52373116], [52374325, 52374384], [52380803, 52380920], [52381425, 52381535], [52400580, 52400644], [52441593, 52441713]] [[52367994, 52368068], [52369388, 52369552], [52370396, 52370540], [52370829, 52370934], [52372350, 52372421], [52373031, 52373116], [52374325, 52374384], [52380803, 52380920], [52381425, 52381535], [52400580, 52400644], [52441593, 52441713]]
NM_012288 [[52362199, 52368068], [52369388, 52369552], [52370396, 52370540], [52370829, 52370934], [52372350, 52372421], [52373031, 52373116], [52374325, 52374384], [52380803, 52380920], [52381425, 52381535], [52400580, 52400644], [52441593, 52441862]] [[52367994, 52368068], [52369388, 52369552], [52370396, 52370540], [52370829, 52370934], [52372350, 52372421], [52373031, 52373116], [52374325, 52374384], [52380803, 52380920], [52381425, 52381535], [52400580, 52400644], [52441593, 52441713]]
Promoter
Chrom Start End Description
chr6 52441770 52441784 CAGE_peak_2_at_TRAM2_5end
chr6 52441791 52441804 CAGE_peak_3_at_TRAM2_5end
chr6 52441810 52441865 CAGE_peak_1_at_TRAM2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I052422 52422908 52425971 1.04 [{'connected_gene': 'TRAM2', 'score': 10.79}, {'connected_gene': 'TRAM2-AS1', 'score': 10.79}, {'connected_gene': 'SLC25A20P1', 'score': 9.02}, {'connected_gene': 'IL17F', 'score': 9.02}, {'connected_gene': 'EFHC1', 'score': 7.57}, {'connected_gene': 'PAQR8', 'score': 5.8}, {'connected_gene': 'PIR61259', 'score': 0.37}, {'connected_gene': 'PIR35463', 'score': 0.31}]
chr6 GH06I052407 52407523 52407672 0.63 [{'connected_gene': 'TRAM2', 'score': 10.3}, {'connected_gene': 'TRAM2-AS1', 'score': 10.3}, {'connected_gene': 'ICK', 'score': 9.67}, {'connected_gene': 'PAQR8', 'score': 4.27}, {'connected_gene': 'PIR61259', 'score': 0.77}, {'connected_gene': 'EFHC1', 'score': 0.25}, {'connected_gene': 'PIR35463', 'score': 0.25}]
chr6 GH06I052410 52410552 52411597 0.4 [{'connected_gene': 'TRAM2', 'score': 10.3}, {'connected_gene': 'TRAM2-AS1', 'score': 10.3}, {'connected_gene': 'ICK', 'score': 9.67}, {'connected_gene': 'PAQR8', 'score': 4.92}, {'connected_gene': 'PIR61259', 'score': 0.44}, {'connected_gene': 'PIR35463', 'score': 0.26}, {'connected_gene': 'EFHC1', 'score': 0.25}]
chr6 GH06I052609 52609615 52613127 1.2 [{'connected_gene': 'TRAM2', 'score': 11.63}, {'connected_gene': 'TRAM2-AS1', 'score': 11.63}, {'connected_gene': 'EFHC1', 'score': 10.67}, {'connected_gene': 'LOC730101', 'score': 8.62}, {'connected_gene': 'PIR56752', 'score': 0.44}, {'connected_gene': 'LOC724104', 'score': 0.25}]
chr6 GH06I052616 52616274 52617595 0.6 [{'connected_gene': 'TRAM2', 'score': 11.29}, {'connected_gene': 'TRAM2-AS1', 'score': 11.29}, {'connected_gene': 'EFHC1', 'score': 10.56}, {'connected_gene': 'PIR56752', 'score': 0.39}, {'connected_gene': 'LOC724104', 'score': 0.26}]
chr6 GH06I052563 52563993 52578444 2.75 [{'connected_gene': 'TRAM2', 'score': 553.57}, {'connected_gene': 'EFHC1', 'score': 21.25}, {'connected_gene': 'MCM3', 'score': 20.38}, {'connected_gene': 'TRAM2-AS1', 'score': 11.6}, {'connected_gene': 'PAQR8', 'score': 5.78}, {'connected_gene': 'LOC730101', 'score': 4.4}, {'connected_gene': 'GC06P052544', 'score': 0.31}]
chr6 GH06I052564 52563023 52563172 0.58 [{'connected_gene': 'TRAM2', 'score': 0.39}, {'connected_gene': 'GC06P052544', 'score': 0.37}]
chr6 GH06I052325 52325383 52332294 1.34 [{'connected_gene': 'PAQR8', 'score': 12.39}, {'connected_gene': 'MCM3', 'score': 10.84}, {'connected_gene': 'TRAM2', 'score': 5.06}, {'connected_gene': 'LOC730101', 'score': 4.33}, {'connected_gene': 'GC06M052308', 'score': 0.37}]
chr6 GH06I052587 52587812 52591680 1.38 [{'connected_gene': 'LOC730101', 'score': 8.55}, {'connected_gene': 'TRAM2', 'score': 5.25}, {'connected_gene': 'TRAM2-AS1', 'score': 0.39}, {'connected_gene': 'PIR56752', 'score': 0.37}]
chr6 GH06I052663 52663164 52665624 1.53 [{'connected_gene': 'LOC730101', 'score': 573.2}, {'connected_gene': 'MCM3', 'score': 19.25}, {'connected_gene': 'EFHC1', 'score': 12.51}, {'connected_gene': 'TRAM2', 'score': 11.59}, {'connected_gene': 'TRAM2-AS1', 'score': 11.59}, {'connected_gene': 'ICK', 'score': 9.97}, {'connected_gene': 'TMEM14A', 'score': 7.14}, {'connected_gene': 'GC06P052657', 'score': 0.44}]
chr6 GH06I052412 52412408 52414439 0.46 [{'connected_gene': 'MCM3', 'score': 18.28}, {'connected_gene': 'PAQR8', 'score': 16.21}, {'connected_gene': 'TRAM2', 'score': 11.21}, {'connected_gene': 'TRAM2-AS1', 'score': 11.21}, {'connected_gene': 'TMEM14A', 'score': 10.67}, {'connected_gene': 'ICK', 'score': 9.67}, {'connected_gene': 'PIR61259', 'score': 0.44}, {'connected_gene': 'PIR35463', 'score': 0.28}, {'connected_gene': 'EFHC1', 'score': 0.23}]
chr6 GH06I052549 52549455 52554424 1.5 [{'connected_gene': 'TRAM2-AS1', 'score': 17.93}, {'connected_gene': 'TRAM2', 'score': 11.67}, {'connected_gene': 'EFHC1', 'score': 10.47}, {'connected_gene': 'PAQR8', 'score': 6.24}, {'connected_gene': 'GSTA5', 'score': 2.9}, {'connected_gene': 'GC06P052544', 'score': 0.44}]
chr6 GH06I052554 52554601 52556800 0.6 [{'connected_gene': 'TRAM2-AS1', 'score': 6.51}, {'connected_gene': 'GC06P052544', 'score': 0.39}, {'connected_gene': 'TRAM2', 'score': 0.34}]
chr6 GH06I052560 52560016 52561264 0.56 [{'connected_gene': 'TRAM2-AS1', 'score': 5.51}, {'connected_gene': 'TRAM2', 'score': 0.37}, {'connected_gene': 'GC06P052544', 'score': 0.37}]
chr6 GH06I052557 52557401 52559601 0.99 [{'connected_gene': 'TRAM2-AS1', 'score': 6.54}, {'connected_gene': 'GC06P052544', 'score': 0.39}, {'connected_gene': 'TRAM2', 'score': 0.37}]
chr6 GH06I052670 52670436 52672203 2.02 [{'connected_gene': 'TMEM14A', 'score': 550.77}, {'connected_gene': 'LOC730101', 'score': 23.25}, {'connected_gene': 'MCM3', 'score': 16.78}, {'connected_gene': 'TRAM2', 'score': 10.26}, {'connected_gene': 'ENSG00000271227', 'score': 0.37}]
chr6 GH06I053054 53054035 53063285 2.27 [{'connected_gene': 'ICK', 'score': 550.77}, {'connected_gene': 'MCM3', 'score': 15.89}, {'connected_gene': 'TRAM2', 'score': 10.66}, {'connected_gene': 'GSTA3', 'score': 9.76}, {'connected_gene': 'FBXO9', 'score': 0.44}]
chr6 GH06I052593 52593476 52599524 1.72 [{'connected_gene': 'EFHC1', 'score': 11.38}, {'connected_gene': 'LOC730101', 'score': 7.52}, {'connected_gene': 'TRAM2', 'score': 5.28}, {'connected_gene': 'PIR56752', 'score': 0.44}, {'connected_gene': 'TRAM2-AS1', 'score': 0.37}]
chr6 GH06I052482 52482486 52483916 1.01 [{'connected_gene': 'EFHC1', 'score': 38.58}, {'connected_gene': 'MCM3', 'score': 8.69}, {'connected_gene': 'TRAM2', 'score': 4.53}, {'connected_gene': 'GC06P052479', 'score': 0.77}, {'connected_gene': 'PIR60379', 'score': 0.39}]
chr6 GH06I052508 52508209 52520570 1.75 [{'connected_gene': 'EFHC1', 'score': 14.29}, {'connected_gene': 'MCM3', 'score': 9.83}, {'connected_gene': 'PAQR8', 'score': 7.27}, {'connected_gene': 'TRAM2', 'score': 6.18}, {'connected_gene': 'TRAM2-AS1', 'score': 5.93}, {'connected_gene': 'GSTA5', 'score': 3.28}, {'connected_gene': 'PIR40531', 'score': 0.44}, {'connected_gene': 'PIR31355', 'score': 0.37}]
chr6 GH06I052415 52415619 52422430 2.32 [{'connected_gene': 'EFHC1', 'score': 579.11}, {'connected_gene': 'MCM3', 'score': 45.21}, {'connected_gene': 'PAQR8', 'score': 5.98}, {'connected_gene': 'TRAM2', 'score': 4.25}, {'connected_gene': 'PIR61259', 'score': 0.39}, {'connected_gene': 'PIR35463', 'score': 0.29}]
chr6 GH06I052652 52652001 52652401 1.11 [{'connected_gene': 'EFHC1', 'score': 11.52}, {'connected_gene': 'TRAM2-AS1', 'score': 10.94}, {'connected_gene': 'TRAM2', 'score': 10.93}, {'connected_gene': 'LOC730101', 'score': 6.21}, {'connected_gene': 'LOC724104', 'score': 0.44}, {'connected_gene': 'PIR56752', 'score': 0.25}]
chr6 GH06I052535 52535735 52549070 1.4 [{'connected_gene': 'EFHC1', 'score': 21.03}, {'connected_gene': 'TRAM2-AS1', 'score': 18.01}, {'connected_gene': 'TRAM2', 'score': 11.82}, {'connected_gene': 'MCM3', 'score': 11.11}, {'connected_gene': 'SLC25A20P1', 'score': 9.6}, {'connected_gene': 'IL17F', 'score': 9.6}, {'connected_gene': 'PAQR8', 'score': 6.37}, {'connected_gene': 'LOC730101', 'score': 5.25}, {'connected_gene': 'GC06P052544', 'score': 0.77}, {'connected_gene': 'PIR31355', 'score': 0.39}]
chr6 GH06I052525 52525865 52527209 0.46 [{'connected_gene': 'EFHC1', 'score': 10.66}, {'connected_gene': 'TRAM2-AS1', 'score': 6.7}, {'connected_gene': 'PAQR8', 'score': 6.42}, {'connected_gene': 'PIR31355', 'score': 0.77}, {'connected_gene': 'PIR40531', 'score': 0.37}, {'connected_gene': 'TRAM2', 'score': 0.23}]
chr6 GH06I052521 52521402 52524275 1.16 [{'connected_gene': 'EFHC1', 'score': 11.18}, {'connected_gene': 'TRAM2-AS1', 'score': 6.67}, {'connected_gene': 'PAQR8', 'score': 5.18}, {'connected_gene': 'PIR31355', 'score': 0.44}, {'connected_gene': 'PIR40531', 'score': 0.39}, {'connected_gene': 'TRAM2', 'score': 0.23}]
chr6 GH06I052509 52508003 52508192 0.95 [{'connected_gene': 'PIR40531', 'score': 550.77}, {'connected_gene': 'PIR31355', 'score': 0.34}, {'connected_gene': 'TRAM2', 'score': 0.2}, {'connected_gene': 'EFHC1', 'score': 0.11}]
chr6 GH06I052502 52502711 52506345 1.44 [{'connected_gene': 'PIR49179', 'score': 550.77}, {'connected_gene': 'PIR39650', 'score': 550.77}, {'connected_gene': 'GC06P052504', 'score': 550.77}, {'connected_gene': 'PIR56640', 'score': 550.77}, {'connected_gene': 'MCM3', 'score': 18.72}, {'connected_gene': 'EFHC1', 'score': 8.26}, {'connected_gene': 'PAQR8', 'score': 5.81}, {'connected_gene': 'PIR40531', 'score': 0.77}, {'connected_gene': 'TRAM2', 'score': 0.19}]
chr6 GH06I052527 52527505 52533946 0.46 [{'connected_gene': 'PIR31355', 'score': 550.77}, {'connected_gene': 'TRAM2-AS1', 'score': 17.81}, {'connected_gene': 'TRAM2', 'score': 11.66}, {'connected_gene': 'EFHC1', 'score': 10.78}, {'connected_gene': 'PAQR8', 'score': 6.59}, {'connected_gene': 'GC06P052544', 'score': 0.39}]
chr6 GH06I052496 52496312 52500750 1.3 [{'connected_gene': 'PIR52747', 'score': 550.77}, {'connected_gene': 'PIR60436', 'score': 550.77}, {'connected_gene': 'PIR60551', 'score': 550.77}, {'connected_gene': 'GC06M052528', 'score': 550.77}, {'connected_gene': 'EFHC1', 'score': 8.18}, {'connected_gene': 'TRAM2-AS1', 'score': 5.6}, {'connected_gene': 'MCM3', 'score': 5.5}, {'connected_gene': 'PAQR8', 'score': 5.47}, {'connected_gene': 'PIR34965', 'score': 0.77}, {'connected_gene': 'PIR60379', 'score': 0.77}, {'connected_gene': 'TRAM2', 'score': 0.18}]