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
ENST00000431018 [[186353757, 186354017], [186362539, 186362709], [186364036, 186364138], [186369006, 186369065]] [[186362559, 186362709], [186364036, 186364138], [186369006, 186369065]]
ENST00000450521 [[186353757, 186354017], [186358248, 186358474], [186358818, 186358929], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]] [[186358249, 186358474], [186358818, 186358929], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]]
ENST00000539949 [[186353760, 186354017], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370879]] [[186362559, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]]
ENST00000382134 [[186358148, 186358478], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]] [[186358249, 186358478], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]]
ENST00000265029 [[186358148, 186358474], [186358818, 186358929], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370797]] [[186358249, 186358474], [186358818, 186358929], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]]
ENST00000435961 [[186358180, 186358474], [186358818, 186358929], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370930]] [[186358249, 186358474], [186358818, 186358929], [186362539, 186362563]]
ENST00000420570 [[186358195, 186358478], [186358818, 186358929], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370774]] [[186358249, 186358478], [186358818, 186358868]]
ENST00000488561 [[186358229, 186358474], [186362539, 186362701]] None
ENST00000382136 [[186358247, 186358474], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]] [[186358249, 186358474], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]]
NM_001308077 [[186358148, 186358474], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370797]] [[186358249, 186358474], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]]
NM_014375 [[186358148, 186358474], [186358818, 186358929], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370797]] [[186358249, 186358474], [186358818, 186358929], [186360259, 186360347], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]]
NM_001308079 [[186358148, 186358478], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370797]] [[186358249, 186358478], [186362539, 186362709], [186364036, 186364138], [186369006, 186369090], [186370051, 186370420]]
Promoter
Chrom Start End Description
chr3 186353756 186353761 CAGE_peak_3_at_FETUB_5end
chr3 186358116 186358121 CAGE_peak_4_at_FETUB_5end
chr3 186358148 186358149 CAGE_peak_7_at_FETUB_5end
chr3 186358151 186358198 CAGE_peak_1_at_FETUB_5end
chr3 186358200 186358211 CAGE_peak_2_at_FETUB_5end
chr3 186358410 186358420 CAGE_peak_5_at_FETUB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I186757 186757010 186758517 0.52 [{'connected_gene': 'KNG1', 'score': 11.43}, {'connected_gene': 'ENSG00000200418', 'score': 11.11}, {'connected_gene': 'SNORA63', 'score': 11.11}, {'connected_gene': 'EIF4A2', 'score': 11.11}, {'connected_gene': 'SNORA81', 'score': 11.11}, {'connected_gene': 'RFC4', 'score': 11.05}, {'connected_gene': 'FETUB', 'score': 10.61}, {'connected_gene': 'AHSG', 'score': 10.41}, {'connected_gene': 'ENSG00000231724', 'score': 10.29}, {'connected_gene': 'HRG', 'score': 10.21}, {'connected_gene': 'PSMD10P2', 'score': 0.77}, {'connected_gene': 'LOC105374259', 'score': 0.77}, {'connected_gene': 'LOC105374258', 'score': 0.37}]
chr3 GH03I186663 186663332 186665281 0.49 [{'connected_gene': 'KNG1', 'score': 10.22}, {'connected_gene': 'FETUB', 'score': 10.14}, {'connected_gene': 'AHSG', 'score': 10.13}, {'connected_gene': 'HRG', 'score': 0.77}, {'connected_gene': 'LOC100533663', 'score': 0.34}, {'connected_gene': 'LOC105374258', 'score': 0.14}]
chr3 GH03I186682 186682468 186683690 0.64 [{'connected_gene': 'KNG1', 'score': 11.12}, {'connected_gene': 'FETUB', 'score': 10.26}, {'connected_gene': 'LOC100533663', 'score': 0.77}, {'connected_gene': 'HRG', 'score': 0.34}, {'connected_gene': 'LOC105374258', 'score': 0.17}]
chr3 GH03I186593 186593409 186595286 0.76 [{'connected_gene': 'FETUB', 'score': 10.4}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'RFC4', 'score': 9.93}, {'connected_gene': 'ENSG00000231724', 'score': 9.8}, {'connected_gene': 'HRG', 'score': 9.75}, {'connected_gene': 'DNAJB11', 'score': 4.76}, {'connected_gene': 'LOC100287402', 'score': 0.77}, {'connected_gene': 'ENSG00000283149', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.1}]
chr3 GH03I186597 186597972 186601328 0.93 [{'connected_gene': 'FETUB', 'score': 11.03}, {'connected_gene': 'KNG1', 'score': 10.32}, {'connected_gene': 'HRG', 'score': 10.25}, {'connected_gene': 'ENSG00000283390', 'score': 0.77}, {'connected_gene': 'AHSG', 'score': 0.39}, {'connected_gene': 'LOC105374258', 'score': 0.09}]
chr3 GH03I186669 186669161 186670460 0.69 [{'connected_gene': 'FETUB', 'score': 11.35}, {'connected_gene': 'KNG1', 'score': 11.2}, {'connected_gene': 'AHSG', 'score': 10.15}, {'connected_gene': 'HRG', 'score': 0.44}, {'connected_gene': 'LOC100533663', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.15}]
chr3 GH03I186640 186640006 186641105 1.09 [{'connected_gene': 'FETUB', 'score': 567.29}, {'connected_gene': 'HRG', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.12}]
chr3 GH03I186588 186588296 186591531 1.07 [{'connected_gene': 'AHSG', 'score': 12.3}, {'connected_gene': 'SNORD2', 'score': 10.75}, {'connected_gene': 'EIF4A2', 'score': 10.75}, {'connected_gene': 'ENSG00000200418', 'score': 10.75}, {'connected_gene': 'SNORA63', 'score': 10.75}, {'connected_gene': 'SNORA81', 'score': 10.75}, {'connected_gene': 'RFC4', 'score': 10.4}, {'connected_gene': 'ENSG00000231724', 'score': 10.4}, {'connected_gene': 'FETUB', 'score': 10.38}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'HRG', 'score': 10.04}, {'connected_gene': 'DNAJB11', 'score': 5.51}, {'connected_gene': 'CRYGS', 'score': 5.07}, {'connected_gene': 'LOC100287402', 'score': 0.44}, {'connected_gene': 'ENSG00000283149', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.09}]
chr3 GH03I186653 186653883 186655003 0.49 [{'connected_gene': 'AHSG', 'score': 10.83}, {'connected_gene': 'KNG1', 'score': 10.39}, {'connected_gene': 'HRG', 'score': 0.44}, {'connected_gene': 'FETUB', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.13}]
chr3 GH03I186652 186652883 186653816 0.59 [{'connected_gene': 'AHSG', 'score': 10.83}, {'connected_gene': 'KNG1', 'score': 10.39}, {'connected_gene': 'HRG', 'score': 0.44}, {'connected_gene': 'FETUB', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.13}]
chr3 GH03I186752 186752212 186756063 1.12 [{'connected_gene': 'LOC105374259', 'score': 550.77}, {'connected_gene': 'KNG1', 'score': 10.98}, {'connected_gene': 'EIF4A2', 'score': 10.98}, {'connected_gene': 'ENSG00000200418', 'score': 10.96}, {'connected_gene': 'SNORA63', 'score': 10.96}, {'connected_gene': 'SNORA81', 'score': 10.96}, {'connected_gene': 'RFC4', 'score': 10.69}, {'connected_gene': 'FETUB', 'score': 10.61}, {'connected_gene': 'ENSG00000231724', 'score': 10.17}, {'connected_gene': 'AHSG', 'score': 9.94}, {'connected_gene': 'HRG', 'score': 9.72}, {'connected_gene': 'PSMD10P2', 'score': 0.44}, {'connected_gene': 'LOC105374258', 'score': 0.37}]
chr3 GH03I186596 186596801 186597200 0.93 [{'connected_gene': 'LOC100287402', 'score': 550.77}, {'connected_gene': 'ENSG00000283390', 'score': 550.77}, {'connected_gene': 'FETUB', 'score': 10.41}, {'connected_gene': 'KNG1', 'score': 10.35}, {'connected_gene': 'HRG', 'score': 10.26}, {'connected_gene': 'RFC4', 'score': 9.93}, {'connected_gene': 'ENSG00000231724', 'score': 9.8}, {'connected_gene': 'AHSG', 'score': 0.37}, {'connected_gene': 'ENSG00000283149', 'score': 0.37}, {'connected_gene': 'LOC105374258', 'score': 0.1}]