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
ENST00000544305 [[23037331, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23217621, 23217758]] [[23037475, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23217621, 23217642]]
ENST00000374630 [[23037457, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240236]] [[23037475, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240063]]
ENST00000400191 [[23037457, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240057], [23240150, 23241818]] [[23037475, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240057], [23240150, 23240363]]
ENST00000374632 [[23037462, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222903, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240763]] [[23037475, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222903, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240063]]
ENST00000374627 [[23101670, 23101737], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219373, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23240245]] [[23101694, 23101737], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219373, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239096]]
ENST00000465676 [[23126732, 23126784], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222906, 23222971]] None
ENST00000490436 [[23191651, 23191705], [23208851, 23209333]] None
NM_001309192 [[23037330, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23247993]] [[23037475, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240063]]
NM_001309193 [[23037330, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240057], [23240150, 23247993]] [[23037475, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240057], [23240150, 23240363]]
NM_017449 [[23037330, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23247993]] [[23037475, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222906, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240063]]
NM_004442 [[23037330, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222903, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23247993]] [[23037475, 23037536], [23107913, 23107978], [23110884, 23111569], [23189529, 23189685], [23191369, 23191705], [23208851, 23208976], [23219376, 23219539], [23221964, 23222073], [23222903, 23222971], [23232479, 23232602], [23233202, 23233450], [23234445, 23234661], [23235514, 23235664], [23236874, 23237068], [23238936, 23239092], [23239954, 23240063]]
Promoter
Chrom Start End Description
chr1 23037323 23037338 CAGE_peak_1_at_EPHB2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I021893 21893993 21916595 1.73 [{'connected_gene': 'ZBTB40', 'score': 37.88}, {'connected_gene': 'HSPG2', 'score': 29.93}, {'connected_gene': 'LDLRAD2', 'score': 19.95}, {'connected_gene': 'CDC42-IT1', 'score': 10.9}, {'connected_gene': 'USP48', 'score': 10.83}, {'connected_gene': 'EPHB2', 'score': 4.85}, {'connected_gene': 'RPL21P29', 'score': 0.77}, {'connected_gene': 'GC01M021883', 'score': 0.37}]
chr1 GH01I022851 22851587 22851811 0.22 [{'connected_gene': 'C1QA', 'score': 2.26}, {'connected_gene': 'C1QB', 'score': 2.24}, {'connected_gene': 'C1QC', 'score': 2.15}, {'connected_gene': 'ENSG00000225952', 'score': 0.39}, {'connected_gene': 'MIR4253', 'score': 0.39}, {'connected_gene': 'EPHB2', 'score': 0.11}]
chr1 GH01I022846 22846401 22846800 0.43 [{'connected_gene': 'WNT4', 'score': 9.41}, {'connected_gene': 'ENSG00000225952', 'score': 0.44}, {'connected_gene': 'MIR4253', 'score': 0.37}, {'connected_gene': 'EPHB2', 'score': 0.12}]
chr1 GH01I022773 22773160 22775133 0.76 [{'connected_gene': 'KDM1A', 'score': 16.68}, {'connected_gene': 'LINC01355', 'score': 13.46}, {'connected_gene': 'ENSG00000225952', 'score': 11.53}, {'connected_gene': 'ELOA', 'score': 11.25}, {'connected_gene': 'GC01M022785', 'score': 0.37}, {'connected_gene': 'GC01P022751', 'score': 0.34}, {'connected_gene': 'EPHB2', 'score': 0.21}]
chr1 GH01I022875 22875655 22877497 0.54 [{'connected_gene': 'KDM1A', 'score': 16.73}, {'connected_gene': 'LINC01355', 'score': 13.48}, {'connected_gene': 'ENSG00000225952', 'score': 11.94}, {'connected_gene': 'ELOA', 'score': 11.25}, {'connected_gene': 'MIR4253', 'score': 0.39}, {'connected_gene': 'GC01P022918', 'score': 0.26}, {'connected_gene': 'EPHB2', 'score': 0.1}]
chr1 GH01I022824 22824739 22833128 1.26 [{'connected_gene': 'KDM1A', 'score': 25.54}, {'connected_gene': 'LINC01355', 'score': 25.48}, {'connected_gene': 'EPHB2', 'score': 22.62}, {'connected_gene': 'ELOA', 'score': 11.25}, {'connected_gene': 'ZNF436-AS1', 'score': 10.88}, {'connected_gene': 'HNRNPR', 'score': 10.66}, {'connected_gene': 'ENSG00000225952', 'score': 0.44}, {'connected_gene': 'GC01M022785', 'score': 0.28}]
chr1 GH01I022712 22710162 22711801 1.94 [{'connected_gene': 'EPHB2', 'score': 550.77}, {'connected_gene': 'TCEA3', 'score': 5.49}, {'connected_gene': 'MIR4684', 'score': 0.44}]
chr1 GH01I022711 22711961 22713121 1.02 [{'connected_gene': 'EPHB2', 'score': 550.77}, {'connected_gene': 'ENSG00000225952', 'score': 10.92}, {'connected_gene': 'KDM1A', 'score': 4.86}, {'connected_gene': 'MIR4684', 'score': 0.44}]
chr1 GH01I022745 22745584 22748395 1.2 [{'connected_gene': 'EPHB2', 'score': 6.25}, {'connected_gene': 'GC01P022751', 'score': 0.77}, {'connected_gene': 'MIR4684', 'score': 0.31}]
chr1 GH01I022794 22794266 22795484 0.78 [{'connected_gene': 'EPHB2', 'score': 19.99}, {'connected_gene': 'GC01M022785', 'score': 0.44}, {'connected_gene': 'ENSG00000225952', 'score': 0.26}]
chr1 GH01I022807 22807908 22809722 0.92 [{'connected_gene': 'EPHB2', 'score': 25.11}, {'connected_gene': 'ENSG00000225952', 'score': 12.13}, {'connected_gene': 'GC01M022785', 'score': 0.37}]
chr1 GH01I022791 22791784 22793311 0.77 [{'connected_gene': 'EPHB2', 'score': 8.33}, {'connected_gene': 'GC01M022785', 'score': 0.77}, {'connected_gene': 'ENSG00000225952', 'score': 0.26}]
chr1 GH01I022795 22795565 22796814 0.74 [{'connected_gene': 'EPHB2', 'score': 13.23}, {'connected_gene': 'GC01M022785', 'score': 0.44}, {'connected_gene': 'ENSG00000225952', 'score': 0.26}]
chr1 GH01I022772 22772357 22772929 0.2 [{'connected_gene': 'EPHB2', 'score': 13.7}, {'connected_gene': 'GC01M022785', 'score': 0.37}, {'connected_gene': 'GC01P022751', 'score': 0.34}]
chr1 GH01I022814 22814513 22816563 0.77 [{'connected_gene': 'EPHB2', 'score': 25.6}, {'connected_gene': 'ENSG00000225952', 'score': 0.34}, {'connected_gene': 'GC01M022785', 'score': 0.31}]
chr1 GH01I022710 22710008 22710157 0.8 [{'connected_gene': 'EPHB2', 'score': 550.77}, {'connected_gene': 'GC01P022705', 'score': 0.77}]
chr1 GH01I022708 22708889 22709660 0.68 [{'connected_gene': 'EPHB2', 'score': 550.77}, {'connected_gene': 'GC01P022705', 'score': 0.77}]
chr1 GH01I022730 22730530 22730833 0.2 [{'connected_gene': 'MIR4684', 'score': 0.39}, {'connected_gene': 'EPHB2', 'score': 0.37}, {'connected_gene': 'GC01P022751', 'score': 0.34}]
chr1 GH01I022735 22734016 22734302 0.2 [{'connected_gene': 'MIR4684', 'score': 0.39}, {'connected_gene': 'GC01P022751', 'score': 0.37}, {'connected_gene': 'EPHB2', 'score': 0.34}]
chr1 GH01I022876 22875408 22875557 0.2 [{'connected_gene': 'MIR4253', 'score': 0.39}, {'connected_gene': 'GC01P022918', 'score': 0.26}, {'connected_gene': 'EPHB2', 'score': 0.1}]
chr1 GH01I022860 22860583 22862757 0.85 [{'connected_gene': 'MIR4253', 'score': 550.77}, {'connected_gene': 'ENSG00000225952', 'score': 0.34}, {'connected_gene': 'EPHB2', 'score': 0.1}]
chr1 GH01I022872 22872764 22874065 0.46 [{'connected_gene': 'MIR4253', 'score': 0.39}, {'connected_gene': 'GC01P022918', 'score': 0.26}, {'connected_gene': 'EPHB2', 'score': 0.1}]
chr1 GH01I022746 22745461 22745517 0.4 [{'connected_gene': 'ENSG00000225952', 'score': 10.51}, {'connected_gene': 'LACTBL1', 'score': 9.56}, {'connected_gene': 'GC01P022751', 'score': 0.44}, {'connected_gene': 'MIR4684', 'score': 0.31}, {'connected_gene': 'EPHB2', 'score': 0.29}]
chr1 GH01I022885 22885001 22885600 0.43 [{'connected_gene': 'ENSG00000225952', 'score': 11.91}, {'connected_gene': 'LACTBL1', 'score': 5.82}, {'connected_gene': 'MIR4253', 'score': 0.34}, {'connected_gene': 'GC01P022918', 'score': 0.29}, {'connected_gene': 'EPHB2', 'score': 0.09}]
chr1 GH01I022739 22739308 22741019 1.14 [{'connected_gene': 'ENSG00000225952', 'score': 11.15}, {'connected_gene': 'EPHB2', 'score': 7.8}, {'connected_gene': 'LINC00339', 'score': 4.77}, {'connected_gene': 'GC01P022751', 'score': 0.39}, {'connected_gene': 'MIR4684', 'score': 0.34}]
chr1 GH01I022749 22749230 22751909 1.46 [{'connected_gene': 'GC01P022751', 'score': 550.77}, {'connected_gene': 'EPHB2', 'score': 6.21}, {'connected_gene': 'MIR4684', 'score': 0.29}]
chr1 GH01I022734 22734801 22736400 0.66 [{'connected_gene': 'ENSG00000225952', 'score': 11.15}, {'connected_gene': 'EPHB2', 'score': 7.73}, {'connected_gene': 'MIR4684', 'score': 0.37}, {'connected_gene': 'GC01P022751', 'score': 0.37}]
chr1 GH01I022716 22716483 22718353 0.62 [{'connected_gene': 'ENSG00000225952', 'score': 11.17}, {'connected_gene': 'EPHB2', 'score': 7.72}, {'connected_gene': 'MIR4684', 'score': 0.77}]
chr1 GH01I022775 22775608 22776086 0.46 [{'connected_gene': 'ENSG00000225952', 'score': 11.53}, {'connected_gene': 'EPHB2', 'score': 7.5}, {'connected_gene': 'GC01M022785', 'score': 0.39}, {'connected_gene': 'GC01P022751', 'score': 0.34}]
chr1 GH01I022771 22771831 22772064 0.31 [{'connected_gene': 'GC01P022751', 'score': 0.37}, {'connected_gene': 'GC01M022785', 'score': 0.37}, {'connected_gene': 'EPHB2', 'score': 0.21}]
chr1 GH01I022780 22780828 22780977 0.54 [{'connected_gene': 'ENSG00000225952', 'score': 11.62}, {'connected_gene': 'GC01M022785', 'score': 0.44}, {'connected_gene': 'GC01P022751', 'score': 0.31}, {'connected_gene': 'EPHB2', 'score': 0.19}]
chr1 GH01I022788 22788127 22788417 0.38 [{'connected_gene': 'GC01M022785', 'score': 550.77}, {'connected_gene': 'GC01P022751', 'score': 0.28}, {'connected_gene': 'EPHB2', 'score': 0.18}]
chr1 GH01I022797 22797957 22799516 0.2 [{'connected_gene': 'GC01M022785', 'score': 0.44}, {'connected_gene': 'ENSG00000225952', 'score': 0.28}, {'connected_gene': 'EPHB2', 'score': 0.17}]
chr1 GH01I022781 22781391 22781451 0.38 [{'connected_gene': 'ENSG00000225952', 'score': 11.62}, {'connected_gene': 'GC01M022785', 'score': 0.44}, {'connected_gene': 'GC01P022751', 'score': 0.31}, {'connected_gene': 'EPHB2', 'score': 0.19}]
chr1 GH01I022793 22793537 22793746 0.38 [{'connected_gene': 'GC01M022785', 'score': 0.77}, {'connected_gene': 'ENSG00000225952', 'score': 0.26}, {'connected_gene': 'EPHB2', 'score': 0.18}]
chr1 GH01I022801 22801868 22802017 0.66 [{'connected_gene': 'GC01M022785', 'score': 0.39}, {'connected_gene': 'ENSG00000225952', 'score': 0.29}, {'connected_gene': 'EPHB2', 'score': 0.16}]
chr1 GH01I022805 22805768 22805897 0.51 [{'connected_gene': 'GC01M022785', 'score': 0.37}, {'connected_gene': 'ENSG00000225952', 'score': 0.29}, {'connected_gene': 'EPHB2', 'score': 0.15}]
chr1 GH01I022753 22753307 22755507 1.04 [{'connected_gene': 'GC01P022751', 'score': 0.77}, {'connected_gene': 'GC01M022785', 'score': 0.28}, {'connected_gene': 'EPHB2', 'score': 0.26}]
chr1 GH01I022798 22797097 22797560 0.38 [{'connected_gene': 'GC01M022785', 'score': 0.44}, {'connected_gene': 'ENSG00000225952', 'score': 0.28}, {'connected_gene': 'EPHB2', 'score': 0.17}]
chr1 GH01I022778 22778345 22780115 0.63 [{'connected_gene': 'ENSG00000225952', 'score': 11.62}, {'connected_gene': 'GC01M022785', 'score': 0.39}, {'connected_gene': 'GC01P022751', 'score': 0.31}, {'connected_gene': 'EPHB2', 'score': 0.2}]
chr1 GH01I022789 22789330 22791184 0.95 [{'connected_gene': 'GC01M022785', 'score': 550.77}, {'connected_gene': 'EPHB2', 'score': 6.78}, {'connected_gene': 'ENSG00000225952', 'score': 0.25}]
chr1 GH01I022738 22738743 22738757 0.74 [{'connected_gene': 'ENSG00000225952', 'score': 11.15}, {'connected_gene': 'GC01P022751', 'score': 0.39}, {'connected_gene': 'MIR4684', 'score': 0.37}, {'connected_gene': 'EPHB2', 'score': 0.31}]
chr1 GH01I022900 22900068 22901421 0.38 [{'connected_gene': 'GC01P022918', 'score': 0.37}, {'connected_gene': 'MIR4253', 'score': 0.28}, {'connected_gene': 'EPHB2', 'score': 0.09}]
chr1 GH01I022889 22889328 22889477 0.56 [{'connected_gene': 'ENSG00000225952', 'score': 11.64}, {'connected_gene': 'GC01P022918', 'score': 0.31}, {'connected_gene': 'MIR4253', 'score': 0.31}, {'connected_gene': 'EPHB2', 'score': 0.1}]

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