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
ENST00000403078 [[161551100, 161551339], [161558211, 161558232], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161647117, 161647155], [161647265, 161648440]] [[161551227, 161551339], [161558211, 161558232], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161647117, 161647155], [161647265, 161647343]]
ENST00000367962 [[161551100, 161551339], [161558211, 161558232], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161648440]] [[161551227, 161551339], [161558211, 161558232], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161647343]]
ENST00000367960 [[161551100, 161551339], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161648440]] [[161551227, 161551339], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161647343]]
ENST00000428605 [[161551225, 161551339], [161558211, 161558232], [161641181, 161641439], [161642764, 161643019], [161643253, 161643338], [161643749, 161643863]] [[161551227, 161551339], [161558211, 161558232], [161641181, 161641439], [161642764, 161643019], [161643253, 161643312]]
ENST00000236937 [[161632936, 161633143], [161640041, 161640062], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161647117, 161647155], [161647265, 161647812]] [[161633031, 161633143], [161640041, 161640062], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161647117, 161647155], [161647265, 161647343]]
ENST00000367961 [[161632950, 161633143], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161647822]] [[161633031, 161633143], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161647343]]
ENST00000358671 [[161632950, 161633143], [161640041, 161640062], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161648444]] [[161633031, 161633143], [161640041, 161640062], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161647343]]
ENST00000480308 [[161632981, 161633143], [161640041, 161640062], [161641181, 161641439], [161642764, 161643019], [161643749, 161647155], [161647265, 161647843]] None
ENST00000485778 [[161632988, 161633143], [161640041, 161640062], [161641181, 161643019], [161643749, 161643906]] None
NM_001190828 [[161632904, 161633143], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161648444]] [[161633031, 161633143], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161647343]]
NM_001002273 [[161632904, 161633143], [161640041, 161640062], [161641184, 161641439], [161642764, 161643019], [161643749, 161643863], [161647117, 161647155], [161647265, 161648444]] [[161633031, 161633143], [161640041, 161640062], [161641184, 161641439], [161642764, 161643019], [161643749, 161643863], [161647117, 161647155], [161647265, 161647343]]
NM_001002275 [[161632904, 161633143], [161640041, 161640062], [161641184, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161648444]] [[161633031, 161633143], [161640041, 161640062], [161641184, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161647343]]
NM_001002274 [[161632904, 161633143], [161640041, 161640062], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161647117, 161647155], [161647265, 161648444]] [[161633031, 161633143], [161640041, 161640062], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161647117, 161647155], [161647265, 161647343]]
NM_004001 [[161632904, 161633143], [161640041, 161640062], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161648444]] [[161633031, 161633143], [161640041, 161640062], [161641181, 161641439], [161642764, 161643019], [161643749, 161643863], [161645046, 161645103], [161647117, 161647155], [161647265, 161647343]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161560 161560601 161563400 1.1 [{'connected_gene': 'FCGR2C', 'score': 26.69}, {'connected_gene': 'FCRLB', 'score': 11.74}, {'connected_gene': 'FCGR2A', 'score': 11.49}, {'connected_gene': 'FCRLA', 'score': 11.3}, {'connected_gene': 'FCGR2B', 'score': 8.88}, {'connected_gene': 'HSPA7', 'score': 6.16}, {'connected_gene': 'RPS23P10', 'score': 5.92}, {'connected_gene': 'ENSG00000224515', 'score': 0.77}, {'connected_gene': 'ENSG00000273112', 'score': 0.25}]
chr1 GH01I161725 161725619 161729147 1.73 [{'connected_gene': 'FCRLA', 'score': 21.02}, {'connected_gene': 'FCRLB', 'score': 14.02}, {'connected_gene': 'ATF6', 'score': 11.92}, {'connected_gene': 'DEDD', 'score': 11.01}, {'connected_gene': 'B4GALT3', 'score': 10.38}, {'connected_gene': 'FCGR2B', 'score': 6.59}, {'connected_gene': 'RN7SL466P', 'score': 0.44}]
chr1 GH01I161705 161705526 161708764 1.65 [{'connected_gene': 'FCRLA', 'score': 567.54}, {'connected_gene': 'FCRLB', 'score': 11.02}, {'connected_gene': 'FCGR2B', 'score': 8.04}, {'connected_gene': 'HSPA7', 'score': 7.03}, {'connected_gene': 'GC01M161708', 'score': 0.77}]
chr1 GH01I161605 161605600 161606801 0.88 [{'connected_gene': 'HSPA7', 'score': 550.77}, {'connected_gene': 'FCGR3B', 'score': 14.49}, {'connected_gene': 'FCGR2B', 'score': 13.57}, {'connected_gene': 'TRL-CAA6-1', 'score': 0.44}, {'connected_gene': 'FCGR2C', 'score': 0.34}]
chr1 GH01I161653 161653401 161654327 0.72 [{'connected_gene': 'FCGR3B', 'score': 9.21}, {'connected_gene': 'FCGR2B', 'score': 7.17}, {'connected_gene': 'FCGR2C', 'score': 5.71}, {'connected_gene': 'HSPA7', 'score': 5.31}]
chr1 GH01I161637 161637108 161638171 0.54 [{'connected_gene': 'FCGR3B', 'score': 13.57}, {'connected_gene': 'FCGR2B', 'score': 5.98}]
chr1 GH01I161632 161631945 161632004 0.7 [{'connected_gene': 'FCGR3B', 'score': 550.77}, {'connected_gene': 'FCGR2B', 'score': 0.29}]
chr1 GH01I161629 161629801 161630800 0.4 [{'connected_gene': 'FCGR3B', 'score': 550.77}, {'connected_gene': 'FCGR2B', 'score': 10.85}, {'connected_gene': 'GC01P161621', 'score': 0.44}]
chr1 GH01I161544 161544401 161550800 1.46 [{'connected_gene': 'FCGR3A', 'score': 550.77}, {'connected_gene': 'FCGR2C', 'score': 27.51}, {'connected_gene': 'FCGR2A', 'score': 12.27}, {'connected_gene': 'FCRLA', 'score': 11.04}, {'connected_gene': 'FCRLB', 'score': 10.83}, {'connected_gene': 'HSPA7', 'score': 9.88}, {'connected_gene': 'FCGR2B', 'score': 8.86}, {'connected_gene': 'RPS23P10', 'score': 7.61}, {'connected_gene': 'FCGR3B', 'score': 7.11}, {'connected_gene': 'TRN-GTT1-1', 'score': 0.44}, {'connected_gene': 'ENSG00000273112', 'score': 0.29}]
chr1 GH01I161642 161642001 161644800 1.17 [{'connected_gene': 'FCGR2B', 'score': 25.31}, {'connected_gene': 'FCGR2C', 'score': 13.24}, {'connected_gene': 'FCRLB', 'score': 11.95}, {'connected_gene': 'FCGR3B', 'score': 11.58}, {'connected_gene': 'HSPA7', 'score': 5.44}]
chr1 GH01I161718 161718564 161719386 0.9 [{'connected_gene': 'FCGR2B', 'score': 6.72}, {'connected_gene': 'HSPA7', 'score': 6.71}, {'connected_gene': 'FCRLB', 'score': 4.87}, {'connected_gene': 'GC01M161708', 'score': 0.44}]
chr1 GH01I161645 161645742 161648716 0.81 [{'connected_gene': 'FCGR2B', 'score': 26.83}, {'connected_gene': 'FCGR3B', 'score': 13.67}, {'connected_gene': 'FCRLA', 'score': 11.65}]
chr1 GH01I161649 161649999 161651878 0.31 [{'connected_gene': 'FCGR2B', 'score': 28.23}, {'connected_gene': 'FCGR3B', 'score': 6.66}, {'connected_gene': 'HSPA7', 'score': 6.3}, {'connected_gene': 'ATF6', 'score': 5.3}]
chr1 GH01I161661 161661401 161662400 0.4 [{'connected_gene': 'FCGR2B', 'score': 550.77}, {'connected_gene': 'FCGR3B', 'score': 0.31}]
chr1 GH01I161635 161635201 161637000 1 [{'connected_gene': 'FCGR2B', 'score': 28.13}, {'connected_gene': 'FCGR3B', 'score': 8.95}]
chr1 GH01I161638 161638265 161640428 0.69 [{'connected_gene': 'FCGR2B', 'score': 26.66}, {'connected_gene': 'FCGR3B', 'score': 8.89}]
chr1 GH01I161662 161662601 161665200 0.9 [{'connected_gene': 'FCGR2B', 'score': 550.77}, {'connected_gene': 'ENSG00000234211', 'score': 0.39}]
chr1 GH01I161721 161721141 161722829 1.63 [{'connected_gene': 'FCRLB', 'score': 564.51}, {'connected_gene': 'FCGR2B', 'score': 6.59}, {'connected_gene': 'RN7SL466P', 'score': 0.39}]
chr1 GH01I161736 161736156 161737018 1.27 [{'connected_gene': 'RN7SL466P', 'score': 550.77}, {'connected_gene': 'FCRLB', 'score': 13.78}, {'connected_gene': 'ENSG00000272574', 'score': 12.95}, {'connected_gene': 'DDR2', 'score': 12.53}, {'connected_gene': 'FCRLA', 'score': 12.07}, {'connected_gene': 'FCGR2A', 'score': 10.97}, {'connected_gene': 'FCGR2B', 'score': 6.16}, {'connected_gene': 'DUSP12', 'score': 5.44}, {'connected_gene': 'ATF6', 'score': 2.63}, {'connected_gene': 'HSPA6', 'score': 1.26}]
chr1 GH01I161528 161528801 161533518 1.79 [{'connected_gene': 'TRL-CAG1-6', 'score': 550.77}, {'connected_gene': 'TRG-TCC2-6', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 26.62}, {'connected_gene': 'USP21', 'score': 23.93}, {'connected_gene': 'FCGR2C', 'score': 20.97}, {'connected_gene': 'FCGR2A', 'score': 16.51}, {'connected_gene': 'PPOX', 'score': 13.32}, {'connected_gene': 'FCRLA', 'score': 11.16}, {'connected_gene': 'FCGR2B', 'score': 9.25}, {'connected_gene': 'HSPA6', 'score': 8.4}, {'connected_gene': 'FCGR3B', 'score': 7.81}, {'connected_gene': 'RPS23P10', 'score': 7.43}, {'connected_gene': 'ARHGAP30', 'score': 6.5}, {'connected_gene': 'FCGR3A', 'score': 5.19}, {'connected_gene': 'USF1', 'score': 3.75}, {'connected_gene': 'FCER1G', 'score': 3.01}, {'connected_gene': 'ATF6', 'score': 2.48}, {'connected_gene': 'OLFML2B', 'score': 2.06}, {'connected_gene': 'ADAMTS4', 'score': 1.95}, {'connected_gene': 'CFAP126', 'score': 1.43}, {'connected_gene': 'PCP4L1', 'score': 1.28}, {'connected_gene': 'ENSG00000273112', 'score': 0.37}]
chr1 GH01I161675 161675635 161677773 0.72 [{'connected_gene': 'ENSG00000234211', 'score': 550.77}, {'connected_gene': 'FCGR3B', 'score': 10.04}, {'connected_gene': 'FCGR2B', 'score': 8.83}, {'connected_gene': 'RPL31P11', 'score': 0.44}]
chr1 GH01I161620 161620801 161625357 1.69 [{'connected_gene': 'GC01P161621', 'score': 550.77}, {'connected_gene': 'DUSP12', 'score': 43.13}, {'connected_gene': 'USP21', 'score': 33.74}, {'connected_gene': 'FCGR2B', 'score': 27.77}, {'connected_gene': 'FCGR3B', 'score': 16.47}, {'connected_gene': 'DEDD', 'score': 13.23}, {'connected_gene': 'PPOX', 'score': 11.99}, {'connected_gene': 'LOC148430', 'score': 11.44}, {'connected_gene': 'B4GALT3', 'score': 11.27}, {'connected_gene': 'FCGR3A', 'score': 7.97}, {'connected_gene': 'FCGR2A', 'score': 2.66}]
chr1 GH01I161611 161611001 161613600 1.75 [{'connected_gene': 'GC01P161612', 'score': 550.77}, {'connected_gene': 'TRL-CAA6-1', 'score': 550.77}, {'connected_gene': 'GC01P161613', 'score': 550.77}, {'connected_gene': 'USP21', 'score': 32.35}, {'connected_gene': 'FCGR2B', 'score': 27.68}, {'connected_gene': 'DUSP12', 'score': 26.66}, {'connected_gene': 'FCGR2C', 'score': 16.95}, {'connected_gene': 'PPOX', 'score': 13.31}, {'connected_gene': 'FCGR3B', 'score': 12.99}, {'connected_gene': 'ATF6', 'score': 12.15}, {'connected_gene': 'B4GALT3', 'score': 11.46}, {'connected_gene': 'DEDD', 'score': 10.41}, {'connected_gene': 'HSPA6', 'score': 6.42}, {'connected_gene': 'HSPA7', 'score': 5.54}, {'connected_gene': 'FCRLB', 'score': 4.64}, {'connected_gene': 'FCGR3A', 'score': 1.67}]