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
ENST00000262097 [[17913933, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17941489, 17941879]] [[17915042, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17941489, 17941567]]
ENST00000381733 [[17913934, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17942184, 17942477]] [[17915042, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17942184, 17942310]]
ENST00000417108 [[17913960, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17941489, 17941603]] [[17915042, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17924728, 17924807], [17927300, 17927387], [17928808, 17928829]]
ENST00000520781 [[17913960, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17941489, 17941879]] [[17915042, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17941489, 17941567]]
ENST00000314146 [[17914706, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17928808, 17928899], [17930764, 17930785], [17933049, 17933096], [17942184, 17942494]] [[17915042, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17928808, 17928899], [17930764, 17930785], [17933049, 17933096], [17942184, 17942310]]
ENST00000519468 [[17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919876], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17941489, 17941573]] None
ENST00000521542 [[17917152, 17917212], [17918885, 17919383]] None
ENST00000518746 [[17918908, 17918967], [17919194, 17919714]] None
ENST00000523593 [[17919191, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17933049, 17933096], [17941489, 17941598]] None
ENST00000519545 [[17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17933685, 17933777]] None
ENST00000517409 [[17919792, 17919932], [17920693, 17921133]] None
ENST00000523744 [[17920691, 17920739], [17921965, 17922425]] None
ENST00000518087 [[17924271, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17941489, 17941615]] None
ENST00000520051 [[17928817, 17928899], [17933049, 17933096], [17941489, 17941795], [17942095, 17942453]] None
NM_177924 [[17913807, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17941489, 17941879]] [[17915042, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17941489, 17941567]]
NM_001127505 [[17913807, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17928808, 17928899], [17930764, 17930785], [17933049, 17933096], [17942184, 17942507]] [[17915042, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17928808, 17928899], [17930764, 17930785], [17933049, 17933096], [17942184, 17942310]]
NM_004315 [[17913807, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17942184, 17942507]] [[17915042, 17915132], [17916343, 17916400], [17916849, 17916973], [17917080, 17917212], [17918885, 17918967], [17919194, 17919249], [17919787, 17919932], [17920693, 17920739], [17921965, 17922040], [17924728, 17924807], [17927300, 17927387], [17928808, 17928899], [17933049, 17933096], [17942184, 17942310]]
Promoter
Chrom Start End Description
chr8 17918962 17918967 CAGE_peak_18_at_ASAH1_5end
chr8 17918981 17918993 CAGE_peak_14_at_ASAH1_5end
chr8 17941575 17941642 CAGE_peak_1_at_ASAH1_5end
chr8 17942299 17942352 CAGE_peak_3_at_ASAH1_5end
chr8 17942432 17942501 CAGE_peak_2_at_ASAH1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I017838 17838117 17839280 0.38 [{'connected_gene': 'MTUS1', 'score': 19.91}, {'connected_gene': 'ENSG00000253671', 'score': 19.19}, {'connected_gene': 'CNOT7', 'score': 15.47}, {'connected_gene': 'ENSG00000253944', 'score': 11.07}, {'connected_gene': 'ASAH1', 'score': 7.26}, {'connected_gene': 'GC08M017832', 'score': 0.44}, {'connected_gene': 'GC08P017815', 'score': 0.34}]
chr8 GH08I017921 17921370 17929474 2.51 [{'connected_gene': 'PCM1', 'score': 567.72}, {'connected_gene': 'ENSG00000253671', 'score': 21.38}, {'connected_gene': 'MTUS1', 'score': 13.98}, {'connected_gene': 'ASAH1', 'score': 9.85}, {'connected_gene': 'FGL1', 'score': 8.85}, {'connected_gene': 'SLC7A2', 'score': 4.57}, {'connected_gene': 'GC08P017880', 'score': 0.26}, {'connected_gene': 'LOC101929066', 'score': 0.1}]
chr8 GH08I017915 17915668 17917207 1.3 [{'connected_gene': 'PCM1', 'score': 17.45}, {'connected_gene': 'ENSG00000253671', 'score': 15.0}, {'connected_gene': 'MTUS1', 'score': 14.62}, {'connected_gene': 'ASAH1', 'score': 10.41}, {'connected_gene': 'FGL1', 'score': 6.63}, {'connected_gene': 'GC08P017880', 'score': 0.28}]
chr8 GH08I017912 17912580 17913200 0.95 [{'connected_gene': 'PCM1', 'score': 14.92}, {'connected_gene': 'ASAH1', 'score': 10.4}, {'connected_gene': 'ENSG00000253671', 'score': 5.41}, {'connected_gene': 'FGL1', 'score': 0.77}, {'connected_gene': 'GC08P017880', 'score': 0.29}]
chr8 GH08I018036 18036258 18036649 0.33 [{'connected_gene': 'PCM1', 'score': 11.4}, {'connected_gene': 'ASAH1', 'score': 4.89}, {'connected_gene': 'NAT1', 'score': 2.25}, {'connected_gene': 'LOC101929066', 'score': 0.25}]
chr8 GH08I017962 17962521 17963770 0.52 [{'connected_gene': 'PCM1', 'score': 24.34}, {'connected_gene': 'ENSG00000253671', 'score': 13.19}, {'connected_gene': 'ASAH1', 'score': 10.7}, {'connected_gene': 'GC08P017880', 'score': 0.18}, {'connected_gene': 'LOC101929066', 'score': 0.13}]
chr8 GH08I018067 18067112 18069846 1.33 [{'connected_gene': 'ASAH1', 'score': 34.77}, {'connected_gene': 'MTUS1', 'score': 10.85}, {'connected_gene': 'ENSG00000253671', 'score': 6.13}, {'connected_gene': 'LOC101929066', 'score': 0.37}, {'connected_gene': 'PCM1', 'score': 0.11}]
chr8 GH08I018057 18057078 18057693 0.2 [{'connected_gene': 'ASAH1', 'score': 29.58}, {'connected_gene': 'MTUS1', 'score': 11.98}, {'connected_gene': 'LOC101929066', 'score': 11.57}, {'connected_gene': 'PCM1', 'score': 0.12}]
chr8 GH08I018077 18077776 18079360 0.52 [{'connected_gene': 'ASAH1', 'score': 22.62}, {'connected_gene': 'MTUS1', 'score': 10.27}, {'connected_gene': 'LOC101929066', 'score': 0.44}, {'connected_gene': 'PCM1', 'score': 0.1}]
chr8 GH08I017914 17914912 17915061 0.63 [{'connected_gene': 'ASAH1', 'score': 10.4}, {'connected_gene': 'FGL1', 'score': 0.77}, {'connected_gene': 'PCM1', 'score': 0.44}, {'connected_gene': 'GC08P017880', 'score': 0.29}]
chr8 GH08I018081 18081465 18086164 2.3 [{'connected_gene': 'ASAH1', 'score': 569.91}, {'connected_gene': 'LOC101929066', 'score': 555.47}, {'connected_gene': 'MTUS1', 'score': 7.04}, {'connected_gene': 'PCM1', 'score': 0.1}]
chr8 GH08I018053 18053147 18055911 0.6 [{'connected_gene': 'ASAH1', 'score': 36.6}, {'connected_gene': 'ENSG00000253671', 'score': 12.88}, {'connected_gene': 'LOC101929066', 'score': 11.55}, {'connected_gene': 'PCM1', 'score': 5.68}]
chr8 GH08I018066 18066912 18067061 0.96 [{'connected_gene': 'ASAH1', 'score': 0.37}, {'connected_gene': 'LOC101929066', 'score': 0.37}, {'connected_gene': 'PCM1', 'score': 0.11}]
chr8 GH08I018073 18073632 18073861 0.58 [{'connected_gene': 'ASAH1', 'score': 0.39}, {'connected_gene': 'LOC101929066', 'score': 0.39}, {'connected_gene': 'PCM1', 'score': 0.1}]
chr8 GH08I018058 18057748 18059777 0.2 [{'connected_gene': 'ASAH1', 'score': 23.31}, {'connected_gene': 'LOC101929066', 'score': 11.57}, {'connected_gene': 'PCM1', 'score': 0.12}]
chr8 GH08I018060 18060132 18060552 0.2 [{'connected_gene': 'ASAH1', 'score': 28.28}, {'connected_gene': 'LOC101929066', 'score': 11.6}, {'connected_gene': 'ENSG00000253671', 'score': 6.11}, {'connected_gene': 'PCM1', 'score': 0.12}]
chr8 GH08I018070 18070698 18073608 0.86 [{'connected_gene': 'ASAH1', 'score': 34.51}, {'connected_gene': 'ENSG00000253671', 'score': 4.59}, {'connected_gene': 'LOC101929066', 'score': 0.39}, {'connected_gene': 'PCM1', 'score': 0.11}]
chr8 GH08I018061 18061492 18061641 0.8 [{'connected_gene': 'ASAH1', 'score': 25.38}, {'connected_gene': 'LOC101929066', 'score': 11.6}, {'connected_gene': 'PCM1', 'score': 0.12}]
chr8 GH08I018075 18075834 18076797 0.49 [{'connected_gene': 'ASAH1', 'score': 18.12}, {'connected_gene': 'LOC101929066', 'score': 0.44}, {'connected_gene': 'PCM1', 'score': 0.1}]
chr8 GH08I018123 18122032 18122181 0.68 [{'connected_gene': 'ASAH1', 'score': 11.41}, {'connected_gene': 'LOC101929066', 'score': 11.41}, {'connected_gene': 'GC08P018137', 'score': 0.37}, {'connected_gene': 'GC08P018094', 'score': 0.31}]
chr8 GH08I018122 18122792 18122941 0.99 [{'connected_gene': 'ASAH1', 'score': 11.41}, {'connected_gene': 'LOC101929066', 'score': 11.41}, {'connected_gene': 'GC08P018137', 'score': 0.39}, {'connected_gene': 'GC08P018094', 'score': 0.31}]
chr8 GH08I017910 17909526 17910834 0.92 [{'connected_gene': 'FGL1', 'score': 550.77}, {'connected_gene': 'ENSG00000253671', 'score': 15.21}, {'connected_gene': 'ASAH1', 'score': 10.74}, {'connected_gene': 'MTUS1', 'score': 7.84}, {'connected_gene': 'ENSG00000254054', 'score': 0.77}, {'connected_gene': 'GC08P017880', 'score': 0.31}]
chr8 GH08I017911 17911062 17912081 0.93 [{'connected_gene': 'FGL1', 'score': 550.77}, {'connected_gene': 'ENSG00000253671', 'score': 15.2}, {'connected_gene': 'ASAH1', 'score': 10.4}, {'connected_gene': 'NAT1', 'score': 1.79}, {'connected_gene': 'PCM1', 'score': 0.39}, {'connected_gene': 'GC08P017880', 'score': 0.29}]
chr8 GH08I017856 17856260 17858209 0.46 [{'connected_gene': 'ENSG00000253671', 'score': 16.82}, {'connected_gene': 'MTUS1', 'score': 8.88}, {'connected_gene': 'ASAH1', 'score': 6.08}, {'connected_gene': 'GC08M017832', 'score': 0.44}, {'connected_gene': 'GC08P017880', 'score': 0.34}, {'connected_gene': 'ENSG00000253944', 'score': 0.22}]
chr8 GH08I017779 17779728 17782646 1.16 [{'connected_gene': 'GC08P017779', 'score': 550.77}, {'connected_gene': 'ENSG00000253671', 'score': 16.58}, {'connected_gene': 'MTUS1', 'score': 11.69}, {'connected_gene': 'ENSG00000253944', 'score': 11.69}, {'connected_gene': 'ASAH1', 'score': 4.59}, {'connected_gene': 'GC08M017804', 'score': 0.37}, {'connected_gene': 'GC08M017800', 'score': 0.37}]
chr8 GH08I017846 17846992 17852054 1.31 [{'connected_gene': 'GC08M017832', 'score': 550.77}, {'connected_gene': 'MTUS1', 'score': 21.15}, {'connected_gene': 'ENSG00000253671', 'score': 18.76}, {'connected_gene': 'ENSG00000253215', 'score': 11.31}, {'connected_gene': 'FGL1', 'score': 11.23}, {'connected_gene': 'ENSG00000253944', 'score': 11.22}, {'connected_gene': 'ASAH1', 'score': 8.04}, {'connected_gene': 'PCM1', 'score': 4.77}, {'connected_gene': 'MTMR7', 'score': 1.48}, {'connected_gene': 'GC08P017880', 'score': 0.29}]
chr8 GH08I017920 17919704 17921227 0.63 [{'connected_gene': 'ENSG00000253671', 'score': 12.52}, {'connected_gene': 'ASAH1', 'score': 10.41}, {'connected_gene': 'MTUS1', 'score': 8.26}, {'connected_gene': 'PCM1', 'score': 0.77}, {'connected_gene': 'FGL1', 'score': 0.39}, {'connected_gene': 'GC08P017880', 'score': 0.28}]
chr8 GH08I017904 17904601 17908844 1.35 [{'connected_gene': 'ENSG00000254054', 'score': 559.68}, {'connected_gene': 'ENSG00000253671', 'score': 14.55}, {'connected_gene': 'ENSG00000253215', 'score': 12.1}, {'connected_gene': 'ASAH1', 'score': 9.44}, {'connected_gene': 'MTUS1', 'score': 7.3}, {'connected_gene': 'FGL1', 'score': 0.77}, {'connected_gene': 'GC08P017880', 'score': 0.31}]
chr8 GH08I017786 17786223 17798118 1.38 [{'connected_gene': 'ENSG00000253671', 'score': 21.51}, {'connected_gene': 'ENSG00000253944', 'score': 19.55}, {'connected_gene': 'ASAH1', 'score': 5.0}, {'connected_gene': 'MTUS1', 'score': 0.44}, {'connected_gene': 'GC08M017804', 'score': 0.44}, {'connected_gene': 'GC08M017800', 'score': 0.44}, {'connected_gene': 'GC08P017779', 'score': 0.39}]
chr8 GH08I018031 18031132 18031284 0.46 [{'connected_gene': 'ENSG00000253671', 'score': 12.26}, {'connected_gene': 'ASAH1', 'score': 11.33}, {'connected_gene': 'NAT1', 'score': 3.41}, {'connected_gene': 'LOC101929066', 'score': 0.23}, {'connected_gene': 'PCM1', 'score': 0.14}]
chr8 GH08I017772 17772678 17774709 0.46 [{'connected_gene': 'ENSG00000253671', 'score': 9.96}, {'connected_gene': 'ASAH1', 'score': 4.99}, {'connected_gene': 'GC08P017779', 'score': 0.44}, {'connected_gene': 'RNA5SP256', 'score': 0.31}, {'connected_gene': 'MTUS1', 'score': 0.31}]
chr8 GH08I017861 17861756 17863582 0.31 [{'connected_gene': 'ENSG00000253671', 'score': 16.8}, {'connected_gene': 'ASAH1', 'score': 6.27}, {'connected_gene': 'GC08M017832', 'score': 0.39}, {'connected_gene': 'GC08P017880', 'score': 0.37}]
chr8 GH08I017844 17844005 17846762 0.86 [{'connected_gene': 'ENSG00000253671', 'score': 20.04}, {'connected_gene': 'ASAH1', 'score': 9.88}, {'connected_gene': 'GC08M017832', 'score': 0.77}, {'connected_gene': 'GC08P017815', 'score': 0.31}, {'connected_gene': 'ENSG00000253944', 'score': 0.26}]
chr8 GH08I017876 17876297 17877766 0.2 [{'connected_gene': 'ENSG00000253671', 'score': 15.2}, {'connected_gene': 'FGL1', 'score': 9.82}, {'connected_gene': 'MTUS1', 'score': 7.84}, {'connected_gene': 'ENSG00000254054', 'score': 4.99}, {'connected_gene': 'ASAH1', 'score': 4.87}, {'connected_gene': 'GC08P017880', 'score': 0.77}, {'connected_gene': 'GC08M017832', 'score': 0.31}]
chr8 GH08I017896 17895992 17897135 0.92 [{'connected_gene': 'ENSG00000253671', 'score': 21.06}, {'connected_gene': 'FGL1', 'score': 10.3}, {'connected_gene': 'ASAH1', 'score': 6.67}, {'connected_gene': 'MTUS1', 'score': 6.38}, {'connected_gene': 'ENSG00000254054', 'score': 0.44}, {'connected_gene': 'GC08M017885', 'score': 0.39}, {'connected_gene': 'PIR60344', 'score': 0.39}, {'connected_gene': 'GC08P017880', 'score': 0.37}]
chr8 GH08I017898 17898012 17898932 0.72 [{'connected_gene': 'ENSG00000253671', 'score': 14.44}, {'connected_gene': 'FGL1', 'score': 10.53}, {'connected_gene': 'ASAH1', 'score': 7.97}, {'connected_gene': 'ENSG00000254054', 'score': 0.44}, {'connected_gene': 'GC08M017885', 'score': 0.39}, {'connected_gene': 'PIR60344', 'score': 0.39}, {'connected_gene': 'GC08P017880', 'score': 0.37}]

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