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
ENST00000527697 [[61640990, 61641337], [61643322, 61643475], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61659330, 61659523]] [[61641285, 61641337], [61643322, 61643475], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646933]]
ENST00000533676 [[61640995, 61641337], [61643322, 61643448], [61643582, 61643662], [61643830, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61649998]] None
ENST00000278829 [[61640997, 61641337], [61643322, 61643448], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61658640, 61659006]] [[61641285, 61641337], [61643322, 61643448], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61658640, 61658853]]
ENST00000529404 [[61640998, 61641337], [61643322, 61643448], [61643576, 61643662], [61643830, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61648174]] None
ENST00000527379 [[61641206, 61641337], [61643322, 61643475], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646054]] [[61641285, 61641337], [61643322, 61643475], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646054]]
ENST00000525094 [[61641231, 61641337], [61643322, 61643448], [61643582, 61643662], [61643842, 61643927], [61644337, 61644343]] [[61641285, 61641337], [61643322, 61643448], [61643582, 61643662], [61643842, 61643927], [61644337, 61644343]]
ENST00000540820 [[61641272, 61641337], [61643322, 61643448], [61643582, 61643662], [61643830, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61658640, 61658926]] [[61644162, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61658640, 61658853]]
ENST00000525588 [[61641285, 61641337], [61643322, 61643448], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646867, 61646981], [61647512, 61647623], [61658640, 61658853]] [[61641285, 61641337], [61643322, 61643448], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646867, 61646981], [61647512, 61647623], [61658640, 61658853]]
ENST00000531956 [[61644349, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61647852, 61647935]] [[61644349, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646933]]
ENST00000534223 [[61644383, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61653727, 61653803]] [[61644383, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646933]]
ENST00000526294 [[61644917, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646905]] None
ENST00000414624 [[61645055, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61658640, 61658926]] None
ENST00000534426 [[61646112, 61646319], [61646783, 61646981], [61647512, 61647665]] None
ENST00000529525 [[61657684, 61657875], [61658640, 61658979]] None
NM_021727 [[61640994, 61641337], [61643322, 61643448], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61658640, 61659017]] [[61641285, 61641337], [61643322, 61643448], [61643582, 61643662], [61643830, 61643927], [61644337, 61644435], [61644982, 61645059], [61645626, 61645687], [61645983, 61646106], [61646217, 61646319], [61646783, 61646981], [61647512, 61647623], [61658640, 61658853]]
Promoter
Chrom Start End Description
chr11 61646096 61646115 CAGE_peak_7_at_FADS3_5end
chr11 61647647 61647669 CAGE_peak_8_at_FADS3_5end
chr11 61647670 61647707 CAGE_peak_6_at_FADS3_5end
chr11 61648015 61648020 CAGE_peak_27_at_FADS3_5end
chr11 61658674 61658694 CAGE_peak_5_at_FADS3_5end
chr11 61658913 61658932 CAGE_peak_2_at_FADS3_5end
chr11 61658952 61658974 CAGE_peak_3_at_FADS3_5end
chr11 61659006 61659046 CAGE_peak_1_at_FADS3_5end
chr11 61659061 61659079 CAGE_peak_4_at_FADS3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061826 61826073 61838665 2.77 [{'connected_gene': 'FADS2', 'score': 632.21}, {'connected_gene': 'MTA2', 'score': 16.23}, {'connected_gene': 'FADS1', 'score': 14.69}, {'connected_gene': 'TMEM138', 'score': 14.56}, {'connected_gene': 'EML3', 'score': 14.16}, {'connected_gene': 'STX5', 'score': 13.27}, {'connected_gene': 'CPSF7', 'score': 13.12}, {'connected_gene': 'NXF1', 'score': 12.41}, {'connected_gene': 'GANAB', 'score': 12.01}, {'connected_gene': 'TMEM179B', 'score': 11.85}, {'connected_gene': 'INTS5', 'score': 11.72}, {'connected_gene': 'CYB561A3', 'score': 11.46}, {'connected_gene': 'FADS3', 'score': 11.23}, {'connected_gene': 'CSKMT', 'score': 11.0}, {'connected_gene': 'LOC105369332', 'score': 10.41}, {'connected_gene': 'BEST1', 'score': 10.36}, {'connected_gene': 'TTC9C', 'score': 10.32}, {'connected_gene': 'UBXN1', 'score': 10.29}, {'connected_gene': 'POLR2G', 'score': 4.77}, {'connected_gene': 'FEN1', 'score': 2.15}, {'connected_gene': 'INCENP', 'score': 1.62}, {'connected_gene': 'PIR43939', 'score': 0.77}, {'connected_gene': 'MIR6746', 'score': 0.25}]
chr11 GH11I061845 61845274 61846783 0.66 [{'connected_gene': 'FADS2', 'score': 48.49}, {'connected_gene': 'FADS3', 'score': 12.41}, {'connected_gene': 'RAB3IL1', 'score': 11.76}, {'connected_gene': 'POLR2G', 'score': 4.94}, {'connected_gene': 'FADS1', 'score': 0.37}, {'connected_gene': 'MIR6746', 'score': 0.29}]
chr11 GH11I061841 61841503 61843112 1.16 [{'connected_gene': 'FADS2', 'score': 31.67}, {'connected_gene': 'FADS3', 'score': 12.6}, {'connected_gene': 'FADS1', 'score': 5.32}, {'connected_gene': 'POLR2G', 'score': 4.88}, {'connected_gene': 'EML3', 'score': 4.4}, {'connected_gene': 'MIR6746', 'score': 0.28}]
chr11 GH11I061850 61850653 61852418 0.49 [{'connected_gene': 'FADS2', 'score': 66.87}, {'connected_gene': 'FADS1', 'score': 12.33}, {'connected_gene': 'FADS3', 'score': 12.25}, {'connected_gene': 'RAB3IL1', 'score': 11.42}, {'connected_gene': 'DKFZP434K028', 'score': 10.78}, {'connected_gene': 'MYRF', 'score': 10.77}, {'connected_gene': 'INCENP', 'score': 10.76}, {'connected_gene': 'BEST1', 'score': 10.74}, {'connected_gene': 'POLR2G', 'score': 4.81}, {'connected_gene': 'MIR6746', 'score': 0.31}]
chr11 GH11I061873 61873949 61874098 0.4 [{'connected_gene': 'FADS2', 'score': 10.54}, {'connected_gene': 'MIR6746', 'score': 0.77}, {'connected_gene': 'FADS3', 'score': 0.37}, {'connected_gene': 'FADS1', 'score': 0.26}]
chr11 GH11I062063 62063970 62065353 0.31 [{'connected_gene': 'BEST1', 'score': 11.54}, {'connected_gene': 'RAB3IL1', 'score': 11.52}, {'connected_gene': 'FADS3', 'score': 11.48}, {'connected_gene': 'FTH1', 'score': 11.33}, {'connected_gene': 'FADS1', 'score': 10.76}, {'connected_gene': 'ENSG00000257058', 'score': 4.43}, {'connected_gene': 'LBHD1', 'score': 4.16}, {'connected_gene': 'ENSG00000254424', 'score': 0.44}, {'connected_gene': 'GC11P062053', 'score': 0.39}, {'connected_gene': 'LOC100507521', 'score': 0.37}]
chr11 GH11I061901 61901213 61901604 0.54 [{'connected_gene': 'BEST1', 'score': 22.71}, {'connected_gene': 'RAB3IL1', 'score': 11.91}, {'connected_gene': 'FADS1', 'score': 11.61}, {'connected_gene': 'MYRF', 'score': 1.89}, {'connected_gene': 'PIR40157', 'score': 0.44}, {'connected_gene': 'FADS3', 'score': 0.44}]
chr11 GH11I061881 61881016 61882083 0.71 [{'connected_gene': 'BEST1', 'score': 11.63}, {'connected_gene': 'RAB3IL1', 'score': 11.55}, {'connected_gene': 'MIR6746', 'score': 0.77}, {'connected_gene': 'FADS3', 'score': 0.39}]
chr11 GH11I061882 61882389 61882538 0.63 [{'connected_gene': 'BEST1', 'score': 11.64}, {'connected_gene': 'RAB3IL1', 'score': 11.55}, {'connected_gene': 'MIR6746', 'score': 0.77}, {'connected_gene': 'FADS3', 'score': 0.44}]
chr11 GH11I061916 61916396 61920718 2.41 [{'connected_gene': 'RAB3IL1', 'score': 576.13}, {'connected_gene': 'CSKMT', 'score': 25.57}, {'connected_gene': 'CPSF7', 'score': 20.98}, {'connected_gene': 'TUT1', 'score': 19.48}, {'connected_gene': 'TAF6L', 'score': 18.6}, {'connected_gene': 'WDR74', 'score': 17.11}, {'connected_gene': 'GANAB', 'score': 12.97}, {'connected_gene': 'SNHG1', 'score': 12.71}, {'connected_gene': 'FADS3', 'score': 11.68}, {'connected_gene': 'BEST1', 'score': 11.55}, {'connected_gene': 'INTS5', 'score': 11.32}, {'connected_gene': 'VPS37C', 'score': 11.29}, {'connected_gene': 'TMEM138', 'score': 11.01}, {'connected_gene': 'LRRN4CL', 'score': 10.69}, {'connected_gene': 'NXF1', 'score': 10.37}, {'connected_gene': 'UBXN1', 'score': 10.1}, {'connected_gene': 'PIR40157', 'score': 0.39}, {'connected_gene': 'GC11P061939', 'score': 0.37}]
chr11 GH11I061921 61921878 61925920 1.51 [{'connected_gene': 'RAB3IL1', 'score': 28.84}, {'connected_gene': 'FADS3', 'score': 11.96}, {'connected_gene': 'BEST1', 'score': 11.88}, {'connected_gene': 'FADS1', 'score': 10.66}, {'connected_gene': 'FTH1', 'score': 10.28}, {'connected_gene': 'DKFZP434K028', 'score': 9.35}, {'connected_gene': 'MYRF', 'score': 9.34}, {'connected_gene': 'GC11P061939', 'score': 0.39}, {'connected_gene': 'PIR40157', 'score': 0.37}]
chr11 GH11I061885 61885471 61893015 2.37 [{'connected_gene': 'FADS3', 'score': 550.77}, {'connected_gene': 'BEST1', 'score': 11.65}, {'connected_gene': 'RAB3IL1', 'score': 11.56}, {'connected_gene': 'FADS2', 'score': 11.33}, {'connected_gene': 'MIR6746', 'score': 0.39}]
chr11 GH11I061914 61914692 61915429 0.38 [{'connected_gene': 'FADS3', 'score': 11.71}, {'connected_gene': 'RAB3IL1', 'score': 11.66}, {'connected_gene': 'BEST1', 'score': 11.53}, {'connected_gene': 'PIR40157', 'score': 0.44}, {'connected_gene': 'GC11P061939', 'score': 0.34}]
chr11 GH11I061912 61912526 61913200 1 [{'connected_gene': 'FADS3', 'score': 11.71}, {'connected_gene': 'RAB3IL1', 'score': 11.66}, {'connected_gene': 'BEST1', 'score': 11.53}, {'connected_gene': 'PIR40157', 'score': 0.44}, {'connected_gene': 'GC11P061939', 'score': 0.31}]
chr11 GH11I061897 61897420 61898421 0.92 [{'connected_gene': 'FADS3', 'score': 5.17}, {'connected_gene': 'PIR40157', 'score': 0.44}, {'connected_gene': 'RAB3IL1', 'score': 0.25}]
chr11 GH11I061893 61893189 61894760 0.99 [{'connected_gene': 'FADS3', 'score': 550.77}, {'connected_gene': 'PIR40157', 'score': 0.39}]
chr11 GH11I061904 61904266 61905689 0.89 [{'connected_gene': 'FADS1', 'score': 17.28}, {'connected_gene': 'BEST1', 'score': 12.01}, {'connected_gene': 'FADS2', 'score': 7.13}, {'connected_gene': 'FADS3', 'score': 5.57}, {'connected_gene': 'PIR40157', 'score': 0.77}, {'connected_gene': 'RAB3IL1', 'score': 0.26}]
chr11 GH11I062108 62108001 62110019 0.97 [{'connected_gene': 'INCENP', 'score': 13.93}, {'connected_gene': 'RAB3IL1', 'score': 11.55}, {'connected_gene': 'FADS3', 'score': 11.53}, {'connected_gene': 'BEST1', 'score': 11.16}, {'connected_gene': 'FTH1', 'score': 11.0}, {'connected_gene': 'FADS1', 'score': 10.78}, {'connected_gene': 'MYRF', 'score': 9.77}, {'connected_gene': 'DKFZP434K028', 'score': 9.77}, {'connected_gene': 'GC11M062088', 'score': 0.37}]
chr11 GH11I062112 62112201 62113218 1.06 [{'connected_gene': 'INCENP', 'score': 18.5}, {'connected_gene': 'FADS3', 'score': 2.95}, {'connected_gene': 'FADS2', 'score': 1.95}, {'connected_gene': 'RAB3IL1', 'score': 1.28}, {'connected_gene': 'GC11M062088', 'score': 0.34}]
chr11 GH11I062104 62104194 62106688 1.35 [{'connected_gene': 'FTH1', 'score': 14.08}, {'connected_gene': 'INCENP', 'score': 13.68}, {'connected_gene': 'RAB3IL1', 'score': 11.56}, {'connected_gene': 'FADS3', 'score': 11.53}, {'connected_gene': 'BEST1', 'score': 11.16}, {'connected_gene': 'FADS1', 'score': 10.78}, {'connected_gene': 'MYRF', 'score': 9.77}, {'connected_gene': 'DKFZP434K028', 'score': 9.77}, {'connected_gene': 'DAGLA', 'score': 6.85}, {'connected_gene': 'GC11M062088', 'score': 0.39}]
chr11 GH11I061874 61874549 61874698 0.66 [{'connected_gene': 'MIR6746', 'score': 0.77}, {'connected_gene': 'FADS3', 'score': 0.37}, {'connected_gene': 'FADS1', 'score': 0.25}]
chr11 GH11I061880 61880001 61880200 0.51 [{'connected_gene': 'MIR6746', 'score': 550.77}, {'connected_gene': 'FADS3', 'score': 0.39}]
chr11 GH11I062081 62081550 62082400 1.1 [{'connected_gene': 'LOC100507521', 'score': 550.77}, {'connected_gene': 'ENSG00000255553', 'score': 550.77}, {'connected_gene': 'BEST1', 'score': 12.01}, {'connected_gene': 'RAB3IL1', 'score': 11.88}, {'connected_gene': 'FADS3', 'score': 11.84}, {'connected_gene': 'FTH1', 'score': 11.81}, {'connected_gene': 'FADS1', 'score': 11.09}, {'connected_gene': 'PIR51193', 'score': 0.44}]
chr11 GH11I061905 61905819 61906167 0.31 [{'connected_gene': 'PIR40157', 'score': 550.77}, {'connected_gene': 'BEST1', 'score': 12.01}, {'connected_gene': 'FADS1', 'score': 11.6}, {'connected_gene': 'FADS3', 'score': 0.39}, {'connected_gene': 'RAB3IL1', 'score': 0.26}]
chr11 GH11I062053 62053053 62053058 0.63 [{'connected_gene': 'GC11P062053', 'score': 550.77}, {'connected_gene': 'BEST1', 'score': 11.88}, {'connected_gene': 'FTH1', 'score': 11.58}, {'connected_gene': 'RAB3IL1', 'score': 11.25}, {'connected_gene': 'FADS3', 'score': 11.2}, {'connected_gene': 'FADS1', 'score': 11.1}, {'connected_gene': 'INCENP', 'score': 10.94}, {'connected_gene': 'LOC100507521', 'score': 0.31}, {'connected_gene': 'RPS2P37', 'score': 0.26}]
chr11 GH11I061898 61898969 61899858 1.33 [{'connected_gene': 'PIR40157', 'score': 0.44}, {'connected_gene': 'FADS3', 'score': 0.44}, {'connected_gene': 'RAB3IL1', 'score': 0.25}]
chr11 GH11I062054 62054201 62054919 1.34 [{'connected_gene': 'GC11P062053', 'score': 550.77}, {'connected_gene': 'INCENP', 'score': 15.78}, {'connected_gene': 'BEST1', 'score': 11.88}, {'connected_gene': 'FTH1', 'score': 11.58}, {'connected_gene': 'RAB3IL1', 'score': 11.25}, {'connected_gene': 'FADS3', 'score': 11.2}, {'connected_gene': 'FADS1', 'score': 11.1}, {'connected_gene': 'ENSG00000254424', 'score': 0.37}, {'connected_gene': 'LOC100507521', 'score': 0.31}]
chr11 GH11I062055 62055117 62055258 0.38 [{'connected_gene': 'GC11P062053', 'score': 550.77}, {'connected_gene': 'INCENP', 'score': 15.26}, {'connected_gene': 'BEST1', 'score': 11.88}, {'connected_gene': 'FTH1', 'score': 11.58}, {'connected_gene': 'RAB3IL1', 'score': 11.25}, {'connected_gene': 'FADS3', 'score': 11.2}, {'connected_gene': 'FADS1', 'score': 11.1}, {'connected_gene': 'ENSG00000254424', 'score': 0.37}, {'connected_gene': 'LOC100507521', 'score': 0.31}]

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