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
ENST00000306100 [[162305048, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954810], [163032422, 163032564], [163084766, 163085187]] [[162306898, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954810], [163032422, 163032548]]
ENST00000379164 [[162305050, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032564], [163084766, 163085118]] [[162306898, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032548]]
ENST00000536695 [[162306898, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032548]] [[162306898, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032548]]
ENST00000427802 [[162306898, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032564], [163084766, 163085156]] [[162306898, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032548]]
ENST00000511170 [[162463754, 162463845], [162473639, 162473729], [162508606, 162508727], [162577479, 162577646], [162585967, 162586056]] None
ENST00000511999 [[162416287, 162416632], [162421167, 162421226]] None
NM_020116 [[162305043, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954810], [163032422, 163032564], [163084766, 163085186]] [[162306898, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954810], [163032422, 163032548]]
NM_001128427 [[162305043, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032564], [163084766, 163085186]] [[162306898, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162431549, 162431576], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032548]]
NM_001128428 [[162305043, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032564], [163084766, 163085186]] [[162306898, 162307601], [162376155, 162376280], [162380363, 162380471], [162402171, 162402321], [162421167, 162421286], [162459317, 162459452], [162463683, 162463845], [162508606, 162508727], [162577479, 162577646], [162680562, 162680683], [162697029, 162697226], [162841555, 162841804], [162954776, 162954807], [163032422, 163032548]]
Promoter
Chrom Start End Description
chr4 162586046 162586050 CAGE_peak_3_at_FSTL5_5end
chr4 163084826 163084834 CAGE_peak_4_at_FSTL5_5end
chr4 163084988 163084999 CAGE_peak_5_at_FSTL5_5end
chr4 163085107 163085118 CAGE_peak_2_at_FSTL5_5end
chr4 163085141 163085162 CAGE_peak_1_at_FSTL5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I161704 161704485 161704744 0.33 [{'connected_gene': 'FSTL5', 'score': 1.32}, {'connected_gene': 'GC04P161454', 'score': 0.07}, {'connected_gene': 'LOC101928052', 'score': 0.06}]
chr4 GH04I161887 161887272 161887341 0.22 [{'connected_gene': 'FSTL5', 'score': 4.14}, {'connected_gene': 'LOC101928052', 'score': 0.12}, {'connected_gene': 'GC04P161454', 'score': 0.04}]
chr4 GH04I162057 162057050 162057269 0.33 [{'connected_gene': 'FSTL5', 'score': 2.07}, {'connected_gene': 'LOC101928052', 'score': 0.29}]
chr4 GH04I161694 161694618 161694798 0.22 [{'connected_gene': 'FSTL5', 'score': 3.26}, {'connected_gene': 'GC04P161454', 'score': 0.07}, {'connected_gene': 'LOC101928052', 'score': 0.05}]
chr4 GH04I162103 162103993 162104178 0.2 [{'connected_gene': 'FSTL5', 'score': 0.22}, {'connected_gene': 'LOC101928052', 'score': 0.18}]
chr4 GH04I162163 162163753 162164601 1.69 [{'connected_gene': 'FSTL5', 'score': 555.46}, {'connected_gene': 'MTHFD2P4', 'score': 0.1}]
chr4 GH04I162061 162061329 162061478 0.31 [{'connected_gene': 'LOC101928052', 'score': 0.28}, {'connected_gene': 'FSTL5', 'score': 0.15}]
chr4 GH04I161935 161935693 161938305 0.57 [{'connected_gene': 'LOC101928052', 'score': 0.17}, {'connected_gene': 'FSTL5', 'score': 0.07}, {'connected_gene': 'GC04P161454', 'score': 0.04}]
chr4 GH04I161763 161763689 161763931 0.22 [{'connected_gene': 'LOC101928052', 'score': 0.07}, {'connected_gene': 'GC04P161454', 'score': 0.06}, {'connected_gene': 'FSTL5', 'score': 0.05}]
chr4 GH04I161734 161734657 161734687 0.22 [{'connected_gene': 'LOC101928052', 'score': 0.06}, {'connected_gene': 'GC04P161454', 'score': 0.06}, {'connected_gene': 'FSTL5', 'score': 0.04}]
chr4 GH04I161449 161449992 161450259 0.22 [{'connected_gene': 'GC04P161454', 'score': 0.77}, {'connected_gene': 'ENSG00000249568', 'score': 0.19}, {'connected_gene': 'FSTL5', 'score': 0.03}]
chr4 GH04I161393 161393309 161394031 0.2 [{'connected_gene': 'ENSG00000249568', 'score': 0.39}, {'connected_gene': 'GC04P161454', 'score': 0.21}, {'connected_gene': 'FSTL5', 'score': 0.03}]
chr4 GH04I161522 161522129 161522278 0.2 [{'connected_gene': 'GC04P161454', 'score': 0.2}, {'connected_gene': 'LOC101928052', 'score': 0.03}, {'connected_gene': 'FSTL5', 'score': 0.03}]
chr4 GH04I161713 161713344 161714969 0.6 [{'connected_gene': 'GC04P161454', 'score': 0.07}, {'connected_gene': 'LOC101928052', 'score': 0.06}, {'connected_gene': 'FSTL5', 'score': 0.05}]
chr4 GH04I161650 161650795 161651400 0.52 [{'connected_gene': 'GC04P161454', 'score': 0.08}, {'connected_gene': 'LOC101928052', 'score': 0.05}, {'connected_gene': 'FSTL5', 'score': 0.03}]
chr4 GH04I161577 161577108 161578794 0.46 [{'connected_gene': 'GC04P161454', 'score': 0.13}, {'connected_gene': 'LOC101928052', 'score': 0.04}, {'connected_gene': 'FSTL5', 'score': 0.03}]
chr4 GH04I161554 161554138 161556292 0.97 [{'connected_gene': 'GC04P161454', 'score': 0.15}, {'connected_gene': 'LOC101928052', 'score': 0.04}, {'connected_gene': 'FSTL5', 'score': 0.03}]
chr4 GH04I161566 161566009 161567046 0.38 [{'connected_gene': 'GC04P161454', 'score': 0.14}, {'connected_gene': 'LOC101928052', 'score': 0.05}, {'connected_gene': 'FSTL5', 'score': 0.03}]

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