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
ENST00000490724 [[161068150, 161068194], [161068455, 161068852], [161069135, 161069295], [161069387, 161069586], [161069850, 161070088]] None
ENST00000469647 [[161068152, 161068194], [161068455, 161068852], [161069387, 161069586], [161069850, 161070133]] None
ENST00000471613 [[161068171, 161068194], [161068455, 161069208]] None
ENST00000368011 [[161068183, 161068852], [161069135, 161069295], [161069387, 161069586], [161069850, 161070136]] [[161068325, 161068852], [161069135, 161069295], [161069387, 161069586], [161069850, 161070014]]
ENST00000392192 [[161068183, 161068852], [161069135, 161069295], [161069368, 161069586], [161069850, 161070136]] [[161068325, 161068852], [161069135, 161069295], [161069368, 161069548]]
ENST00000392191 [[161068229, 161068271], [161068455, 161068852], [161069135, 161069295], [161069387, 161069525]] None
ENST00000494418 [[161068234, 161068271], [161068455, 161068852], [161069387, 161069534]] None
ENST00000475934 [[161069297, 161069586], [161069850, 161070136]] None
NR_033385 [[161068150, 161068194], [161068455, 161068852], [161069135, 161069295], [161069387, 161069586], [161069850, 161070138]] None
NR_033386 [[161068150, 161068194], [161068455, 161068852], [161069135, 161069295], [161069368, 161069586], [161069850, 161070138]] None
NM_152366 [[161068180, 161068852], [161069135, 161069295], [161069387, 161069586], [161069850, 161070138]] [[161068325, 161068852], [161069135, 161069295], [161069387, 161069586], [161069850, 161070014]]
NM_001007255 [[161068180, 161068852], [161069135, 161069295], [161069368, 161069586], [161069850, 161070138]] [[161068325, 161068852], [161069135, 161069295], [161069368, 161069548]]
Promoter
Chrom Start End Description
chr1 161068110 161068178 CAGE_peak_1_at_KLHDC9_5end
chr1 161068179 161068209 CAGE_peak_2_at_KLHDC9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161043 161043999 161049778 2.27 [{'connected_gene': 'USF1', 'score': 550.77}, {'connected_gene': 'GC01P161046', 'score': 550.77}, {'connected_gene': 'PIR33280', 'score': 550.77}, {'connected_gene': 'DEDD', 'score': 20.46}, {'connected_gene': 'TSTD1', 'score': 16.14}, {'connected_gene': 'LOC100287049', 'score': 12.84}, {'connected_gene': 'ARHGAP30', 'score': 12.3}, {'connected_gene': 'LOC105371471', 'score': 12.24}, {'connected_gene': 'NECTIN4', 'score': 12.22}, {'connected_gene': 'KLHDC9', 'score': 11.63}, {'connected_gene': 'UFC1', 'score': 10.84}, {'connected_gene': 'ENSG00000224985', 'score': 10.83}, {'connected_gene': 'USP21', 'score': 10.83}, {'connected_gene': 'PPOX', 'score': 10.82}, {'connected_gene': 'DCAF8', 'score': 10.43}, {'connected_gene': 'LOC148430', 'score': 10.3}, {'connected_gene': 'F11R', 'score': 9.59}, {'connected_gene': 'ENSG00000232879', 'score': 9.06}]
chr1 GH01I160986 160986646 160988091 0.38 [{'connected_gene': 'F11R', 'score': 20.35}, {'connected_gene': 'ITLN2', 'score': 12.99}, {'connected_gene': 'ENSG00000232879', 'score': 11.64}, {'connected_gene': 'TSTD1', 'score': 11.62}, {'connected_gene': 'SLAMF7', 'score': 10.87}, {'connected_gene': 'KLHDC9', 'score': 10.84}, {'connected_gene': 'ITLN1', 'score': 10.74}, {'connected_gene': 'ARHGAP30', 'score': 10.73}, {'connected_gene': 'NECTIN4', 'score': 10.71}, {'connected_gene': 'LOC105371471', 'score': 10.71}, {'connected_gene': 'ENSG00000228863', 'score': 10.26}, {'connected_gene': 'LY9', 'score': 10.09}, {'connected_gene': 'DEDD', 'score': 10.07}, {'connected_gene': 'SLAMF1', 'score': 9.91}, {'connected_gene': 'PIR56289', 'score': 0.39}, {'connected_gene': 'GC01M160999', 'score': 0.39}]
chr1 GH01I161066 161066049 161071180 2.43 [{'connected_gene': 'ARHGAP30', 'score': 568.4}, {'connected_gene': 'FCGR2A', 'score': 38.56}, {'connected_gene': 'TSTD1', 'score': 31.5}, {'connected_gene': 'DUSP12', 'score': 27.0}, {'connected_gene': 'USP21', 'score': 24.96}, {'connected_gene': 'PPOX', 'score': 16.24}, {'connected_gene': 'F11R', 'score': 16.13}, {'connected_gene': 'DEDD', 'score': 12.65}, {'connected_gene': 'NECTIN4', 'score': 12.0}, {'connected_gene': 'ENSG00000232879', 'score': 11.75}, {'connected_gene': 'LOC100287049', 'score': 11.53}, {'connected_gene': 'COPA', 'score': 11.48}, {'connected_gene': 'KLHDC9', 'score': 11.19}, {'connected_gene': 'USF1', 'score': 4.63}, {'connected_gene': 'FCGR3A', 'score': 3.43}, {'connected_gene': 'CD244', 'score': 3.34}, {'connected_gene': 'FCER1G', 'score': 3.26}, {'connected_gene': 'CD48', 'score': 2.45}, {'connected_gene': 'GC01P161070', 'score': 0.77}, {'connected_gene': 'GC01P161046', 'score': 0.34}]
chr1 GH01I161096 161096224 161099132 2.12 [{'connected_gene': 'KLHDC9', 'score': 567.8}, {'connected_gene': 'USP21', 'score': 157.92}, {'connected_gene': 'DUSP12', 'score': 145.37}, {'connected_gene': 'PPOX', 'score': 88.24}, {'connected_gene': 'LOC100287049', 'score': 78.15}, {'connected_gene': 'DEDD', 'score': 68.19}, {'connected_gene': 'NCSTN', 'score': 52.13}, {'connected_gene': 'RPSAP18', 'score': 45.98}, {'connected_gene': 'LOC148430', 'score': 39.75}, {'connected_gene': 'DCAF8', 'score': 38.23}, {'connected_gene': 'B4GALT3', 'score': 36.38}, {'connected_gene': 'ATF6', 'score': 32.82}, {'connected_gene': 'COPA', 'score': 27.97}, {'connected_gene': 'LOC729867', 'score': 13.88}, {'connected_gene': 'LY9', 'score': 10.47}, {'connected_gene': 'SLAMF6', 'score': 10.28}, {'connected_gene': 'FCER1G', 'score': 7.13}, {'connected_gene': 'NDUFS2', 'score': 6.32}, {'connected_gene': 'NIT1', 'score': 5.5}, {'connected_gene': 'NECTIN4', 'score': 0.44}]
chr1 GH01I161011 161011352 161023074 2.16 [{'connected_gene': 'DUSP12', 'score': 74.64}, {'connected_gene': 'USP21', 'score': 72.51}, {'connected_gene': 'LOC100287049', 'score': 65.99}, {'connected_gene': 'DEDD', 'score': 42.11}, {'connected_gene': 'PPOX', 'score': 41.65}, {'connected_gene': 'TSTD1', 'score': 33.18}, {'connected_gene': 'LOC148430', 'score': 32.97}, {'connected_gene': 'B4GALT3', 'score': 29.85}, {'connected_gene': 'ARHGAP30', 'score': 24.17}, {'connected_gene': 'KLHDC9', 'score': 22.28}, {'connected_gene': 'DCAF8', 'score': 20.08}, {'connected_gene': 'FCGR2A', 'score': 19.25}, {'connected_gene': 'USF1', 'score': 17.68}, {'connected_gene': 'RPSAP18', 'score': 16.18}, {'connected_gene': 'LOC105371471', 'score': 10.91}, {'connected_gene': 'NECTIN4', 'score': 10.9}, {'connected_gene': 'F11R', 'score': 10.52}, {'connected_gene': 'LY9', 'score': 9.87}, {'connected_gene': 'ITLN1', 'score': 9.71}, {'connected_gene': 'ENSG00000228863', 'score': 9.37}, {'connected_gene': 'ENSG00000232879', 'score': 7.77}, {'connected_gene': 'FCER1G', 'score': 6.31}, {'connected_gene': 'CD244', 'score': 4.98}, {'connected_gene': 'SLAMF7', 'score': 4.61}, {'connected_gene': 'CD48', 'score': 4.18}, {'connected_gene': 'ADAMTS4', 'score': 2.7}, {'connected_gene': 'NDUFS2', 'score': 1.4}, {'connected_gene': 'NR1I3', 'score': 1.24}, {'connected_gene': 'CD84', 'score': 1.13}, {'connected_gene': 'PIR46981', 'score': 0.37}, {'connected_gene': 'GC01M161000', 'score': 0.37}, {'connected_gene': 'ENSG00000270149', 'score': 0.34}]
chr1 GH01I161064 161064084 161065746 0.66 [{'connected_gene': 'DUSP12', 'score': 48.7}, {'connected_gene': 'USP21', 'score': 35.71}, {'connected_gene': 'LOC100287049', 'score': 25.42}, {'connected_gene': 'PPOX', 'score': 24.98}, {'connected_gene': 'DEDD', 'score': 20.2}, {'connected_gene': 'DCAF8', 'score': 12.03}, {'connected_gene': 'NECTIN4', 'score': 12.0}, {'connected_gene': 'TSTD1', 'score': 11.77}, {'connected_gene': 'ENSG00000232879', 'score': 11.75}, {'connected_gene': 'F11R', 'score': 11.72}, {'connected_gene': 'B4GALT3', 'score': 11.52}, {'connected_gene': 'COPA', 'score': 11.48}, {'connected_gene': 'KLHDC9', 'score': 11.17}, {'connected_gene': 'ARHGAP30', 'score': 0.44}, {'connected_gene': 'GC01P161046', 'score': 0.37}]
chr1 GH01I161058 161058968 161060536 0.38 [{'connected_gene': 'LOC105371471', 'score': 12.49}, {'connected_gene': 'NECTIN4', 'score': 11.62}, {'connected_gene': 'TSTD1', 'score': 11.61}, {'connected_gene': 'ENSG00000232879', 'score': 11.61}, {'connected_gene': 'F11R', 'score': 11.55}, {'connected_gene': 'KLHDC9', 'score': 11.44}, {'connected_gene': 'DEDD', 'score': 10.83}, {'connected_gene': 'GC01P161046', 'score': 0.39}, {'connected_gene': 'ARHGAP30', 'score': 0.39}]
chr1 GH01I161091 161091675 161093363 0.74 [{'connected_gene': 'TSTD1', 'score': 5.8}, {'connected_gene': 'NECTIN4', 'score': 0.77}, {'connected_gene': 'KLHDC9', 'score': 0.44}]
chr1 GH01I161008 161008668 161010756 1.32 [{'connected_gene': 'TSTD1', 'score': 12.08}, {'connected_gene': 'ENSG00000232879', 'score': 12.08}, {'connected_gene': 'USF1', 'score': 12.02}, {'connected_gene': 'ARHGAP30', 'score': 10.92}, {'connected_gene': 'LOC105371471', 'score': 10.9}, {'connected_gene': 'NECTIN4', 'score': 10.89}, {'connected_gene': 'DEDD', 'score': 10.88}, {'connected_gene': 'KLHDC9', 'score': 10.86}, {'connected_gene': 'ENSG00000228863', 'score': 9.38}, {'connected_gene': 'F11R', 'score': 6.53}, {'connected_gene': 'PIR46981', 'score': 0.44}, {'connected_gene': 'GC01M161000', 'score': 0.44}, {'connected_gene': 'ENSG00000270149', 'score': 0.31}]
chr1 GH01I161006 161006311 161006962 0.2 [{'connected_gene': 'TSTD1', 'score': 32.48}, {'connected_gene': 'USF1', 'score': 12.02}, {'connected_gene': 'ENSG00000232879', 'score': 11.83}, {'connected_gene': 'LOC105371471', 'score': 10.86}, {'connected_gene': 'KLHDC9', 'score': 10.79}, {'connected_gene': 'NECTIN4', 'score': 10.53}, {'connected_gene': 'DEDD', 'score': 10.45}, {'connected_gene': 'F11R', 'score': 6.51}, {'connected_gene': 'PIR46981', 'score': 0.44}, {'connected_gene': 'GC01M161000', 'score': 0.44}, {'connected_gene': 'ENSG00000270149', 'score': 0.29}]
chr1 GH01I161041 161041091 161042234 0.84 [{'connected_gene': 'TSTD1', 'score': 20.21}, {'connected_gene': 'F11R', 'score': 11.69}, {'connected_gene': 'KLHDC9', 'score': 11.67}, {'connected_gene': 'ARHGAP30', 'score': 11.13}, {'connected_gene': 'LOC105371471', 'score': 11.08}, {'connected_gene': 'NECTIN4', 'score': 11.06}, {'connected_gene': 'DEDD', 'score': 10.59}, {'connected_gene': 'USF1', 'score': 0.77}, {'connected_gene': 'PIR33280', 'score': 0.77}]
chr1 GH01I161060 161060706 161062788 0.49 [{'connected_gene': 'TSTD1', 'score': 35.87}, {'connected_gene': 'F11R', 'score': 18.77}, {'connected_gene': 'LOC105371471', 'score': 12.49}, {'connected_gene': 'NECTIN4', 'score': 11.98}, {'connected_gene': 'ENSG00000232879', 'score': 11.77}, {'connected_gene': 'KLHDC9', 'score': 11.44}, {'connected_gene': 'DEDD', 'score': 10.83}, {'connected_gene': 'ARHGAP30', 'score': 0.44}, {'connected_gene': 'GC01P161046', 'score': 0.37}]
chr1 GH01I161050 161050706 161055577 0.54 [{'connected_gene': 'TSTD1', 'score': 25.07}, {'connected_gene': 'F11R', 'score': 18.91}, {'connected_gene': 'LOC105371471', 'score': 12.26}, {'connected_gene': 'NECTIN4', 'score': 12.24}, {'connected_gene': 'KLHDC9', 'score': 11.39}, {'connected_gene': 'DEDD', 'score': 10.64}, {'connected_gene': 'GC01P161046', 'score': 0.44}, {'connected_gene': 'ARHGAP30', 'score': 0.37}]
chr1 GH01I161002 161002723 161003058 0.25 [{'connected_gene': 'ENSG00000232879', 'score': 19.82}, {'connected_gene': 'USF1', 'score': 13.21}, {'connected_gene': 'TSTD1', 'score': 11.79}, {'connected_gene': 'LOC105371471', 'score': 10.85}, {'connected_gene': 'KLHDC9', 'score': 10.78}, {'connected_gene': 'NECTIN4', 'score': 10.53}, {'connected_gene': 'DEDD', 'score': 10.45}, {'connected_gene': 'ARHGAP30', 'score': 2.26}, {'connected_gene': 'SLAMF7', 'score': 1.77}, {'connected_gene': 'PIR46981', 'score': 0.77}, {'connected_gene': 'GC01M161000', 'score': 0.77}, {'connected_gene': 'F11R', 'score': 0.37}, {'connected_gene': 'ENSG00000270149', 'score': 0.28}]
chr1 GH01I161055 161055958 161057696 0.2 [{'connected_gene': 'ENSG00000232879', 'score': 19.63}, {'connected_gene': 'LOC105371471', 'score': 12.06}, {'connected_gene': 'F11R', 'score': 11.55}, {'connected_gene': 'KLHDC9', 'score': 11.41}, {'connected_gene': 'NECTIN4', 'score': 11.18}, {'connected_gene': 'DEDD', 'score': 10.55}, {'connected_gene': 'TSTD1', 'score': 10.05}, {'connected_gene': 'GC01P161046', 'score': 0.39}, {'connected_gene': 'ARHGAP30', 'score': 0.39}]
chr1 GH01I161000 161000346 161002003 0.57 [{'connected_gene': 'PIR46981', 'score': 550.77}, {'connected_gene': 'GC01M161000', 'score': 550.77}, {'connected_gene': 'TSTD1', 'score': 32.46}, {'connected_gene': 'F11R', 'score': 18.23}, {'connected_gene': 'USF1', 'score': 12.01}, {'connected_gene': 'ENSG00000232879', 'score': 11.81}, {'connected_gene': 'LOC105371471', 'score': 10.85}, {'connected_gene': 'KLHDC9', 'score': 10.78}, {'connected_gene': 'NECTIN4', 'score': 10.53}, {'connected_gene': 'DEDD', 'score': 10.44}, {'connected_gene': 'ENSG00000270149', 'score': 0.28}]

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