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
ENST00000359942 [[46159995, 46160187], [46165741, 46165862], [46179917, 46180138], [46182566, 46182689], [46184874, 46185012], [46193302, 46193470], [46195285, 46195441], [46206572, 46207004], [46211791, 46212133], [46216268, 46216322]] [[46160089, 46160187], [46165741, 46165862], [46179917, 46180138], [46182566, 46182689], [46184874, 46185012], [46193302, 46193470], [46195285, 46195441], [46206572, 46207004], [46211791, 46212083]]
ENST00000461718 [[46162730, 46163004], [46163602, 46163727]] None
ENST00000495072 [[46162730, 46163004], [46165416, 46165862], [46179917, 46179924]] None
ENST00000396478 [[46164382, 46165862], [46179917, 46180138], [46182566, 46182689], [46184874, 46185012], [46193302, 46193470], [46195285, 46195441], [46206572, 46207004], [46211791, 46212133], [46216268, 46216321]] [[46165637, 46165862], [46179917, 46180138], [46182566, 46182689], [46184874, 46185012], [46193302, 46193470], [46195285, 46195441], [46206572, 46207004], [46211791, 46212083]]
NM_001145349 [[46159995, 46160187], [46165741, 46165862], [46179917, 46180138], [46182566, 46182689], [46184874, 46185012], [46193302, 46193470], [46195285, 46195441], [46206572, 46207004], [46211791, 46212133], [46216268, 46216485]] [[46160089, 46160187], [46165741, 46165862], [46179917, 46180138], [46182566, 46182689], [46184874, 46185012], [46193302, 46193470], [46195285, 46195441], [46206572, 46207004], [46211791, 46212083]]
NM_005897 [[46164390, 46165862], [46179917, 46180138], [46182566, 46182689], [46184874, 46185012], [46193302, 46193470], [46195285, 46195441], [46206572, 46207004], [46211791, 46212133], [46216268, 46216485]] [[46165637, 46165862], [46179917, 46180138], [46182566, 46182689], [46184874, 46185012], [46193302, 46193470], [46195285, 46195441], [46206572, 46207004], [46211791, 46212083]]
Promoter
Chrom Start End Description
chr1 46216286 46216346 CAGE_peak_1_at_IPP_5end
chr1 46216430 46216477 CAGE_peak_2_at_IPP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I044985 44985379 44987391 2.12 [{'connected_gene': 'EIF2B3', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 59.22}, {'connected_gene': 'GPBP1L1', 'score': 40.04}, {'connected_gene': 'RPS8', 'score': 30.21}, {'connected_gene': 'HECTD3', 'score': 28.71}, {'connected_gene': 'MUTYH', 'score': 27.63}, {'connected_gene': 'RPL7AP16', 'score': 26.89}, {'connected_gene': 'RPS15AP10', 'score': 21.5}, {'connected_gene': 'DMAP1', 'score': 13.31}, {'connected_gene': 'UROD', 'score': 12.98}, {'connected_gene': 'IPP', 'score': 12.84}, {'connected_gene': 'NASP', 'score': 12.25}, {'connected_gene': 'ZSWIM5', 'score': 10.96}, {'connected_gene': 'TMEM69', 'score': 10.88}, {'connected_gene': 'BTBD19', 'score': 5.2}, {'connected_gene': 'CCNB1IP1P1', 'score': 0.31}]
chr1 GH01I046246 46246448 46249571 2.31 [{'connected_gene': 'RAD54L', 'score': 550.77}, {'connected_gene': 'GC01M046246', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 68.36}, {'connected_gene': 'LRRC41', 'score': 68.03}, {'connected_gene': 'GPBP1L1', 'score': 51.55}, {'connected_gene': 'EFCAB14-AS1', 'score': 43.03}, {'connected_gene': 'NSUN4', 'score': 28.01}, {'connected_gene': 'RPL7AP16', 'score': 25.25}, {'connected_gene': 'NASP', 'score': 21.43}, {'connected_gene': 'MOB3C', 'score': 20.35}, {'connected_gene': 'MUTYH', 'score': 15.71}, {'connected_gene': 'IPP', 'score': 12.86}, {'connected_gene': 'RPS15AP10', 'score': 11.27}, {'connected_gene': 'TMEM69', 'score': 10.88}, {'connected_gene': 'GC01M046227', 'score': 0.25}]
chr1 GH01I045684 45684400 45689540 2.34 [{'connected_gene': 'GPBP1L1', 'score': 617.23}, {'connected_gene': 'TMEM69', 'score': 550.77}, {'connected_gene': 'LRRC41', 'score': 75.95}, {'connected_gene': 'TOE1', 'score': 73.18}, {'connected_gene': 'RPS8', 'score': 39.41}, {'connected_gene': 'RPL7AP16', 'score': 36.32}, {'connected_gene': 'EFCAB14-AS1', 'score': 32.3}, {'connected_gene': 'HECTD3', 'score': 28.64}, {'connected_gene': 'MAST2', 'score': 23.58}, {'connected_gene': 'RPS15AP10', 'score': 20.37}, {'connected_gene': 'IPP', 'score': 18.01}, {'connected_gene': 'MUTYH', 'score': 14.2}, {'connected_gene': 'PTCH2', 'score': 13.88}, {'connected_gene': 'LURAP1', 'score': 13.44}, {'connected_gene': 'ZSWIM5', 'score': 12.76}, {'connected_gene': 'NSUN4', 'score': 10.91}, {'connected_gene': 'MOB3C', 'score': 10.65}]
chr1 GH01I045392 45392718 45395280 1.16 [{'connected_gene': 'PRDX1', 'score': 15.69}, {'connected_gene': 'MMACHC', 'score': 4.7}, {'connected_gene': 'TOE1', 'score': 2.76}, {'connected_gene': 'IPP', 'score': 2.7}, {'connected_gene': 'TESK2', 'score': 1.8}, {'connected_gene': 'PPIAP36', 'score': 0.34}, {'connected_gene': 'PIR46302', 'score': 0.23}]
chr1 GH01I045409 45409370 45413212 1.27 [{'connected_gene': 'PRDX1', 'score': 25.81}, {'connected_gene': 'TESK2', 'score': 13.05}, {'connected_gene': 'HMGB1P48', 'score': 9.24}, {'connected_gene': 'MMACHC', 'score': 5.61}, {'connected_gene': 'CCDC163', 'score': 5.41}, {'connected_gene': 'IPP', 'score': 4.43}, {'connected_gene': 'PPIAP36', 'score': 0.77}, {'connected_gene': 'PIR46302', 'score': 0.2}]
chr1 GH01I045621 45621401 45622000 0.46 [{'connected_gene': 'IPP', 'score': 7.04}, {'connected_gene': 'CCDC17', 'score': 0.77}, {'connected_gene': 'ENSG00000281825', 'score': 0.37}]
chr1 GH01I045749 45749708 45752800 2.29 [{'connected_gene': 'IPP', 'score': 559.48}, {'connected_gene': 'LOC105378693', 'score': 550.77}, {'connected_gene': 'LRRC41', 'score': 51.37}, {'connected_gene': 'TOE1', 'score': 50.42}, {'connected_gene': 'GPBP1L1', 'score': 48.07}, {'connected_gene': 'HECTD3', 'score': 36.7}, {'connected_gene': 'CCDC163', 'score': 35.18}, {'connected_gene': 'RPL7AP16', 'score': 25.88}, {'connected_gene': 'MUTYH', 'score': 24.75}, {'connected_gene': 'MAST2', 'score': 23.91}, {'connected_gene': 'EFCAB14-AS1', 'score': 22.85}, {'connected_gene': 'RPS15AP10', 'score': 21.53}, {'connected_gene': 'RPS8', 'score': 21.48}, {'connected_gene': 'MOB3C', 'score': 21.03}, {'connected_gene': 'NASP', 'score': 10.03}, {'connected_gene': 'FAAH', 'score': 6.23}, {'connected_gene': 'RPL6P1', 'score': 0.29}]
chr1 GH01I045750 45749213 45749298 0.31 [{'connected_gene': 'IPP', 'score': 550.77}, {'connected_gene': 'LOC105378693', 'score': 550.77}, {'connected_gene': 'ENSG00000230896', 'score': 0.23}]
chr1 GH01I045730 45730589 45730738 0.65 [{'connected_gene': 'IPP', 'score': 9.11}, {'connected_gene': 'ENSG00000230896', 'score': 0.29}]
chr1 GH01I045657 45657611 45659158 0.85 [{'connected_gene': 'MAST2', 'score': 23.75}, {'connected_gene': 'GPBP1L1', 'score': 12.43}, {'connected_gene': 'CCDC17', 'score': 12.41}, {'connected_gene': 'IPP', 'score': 8.93}, {'connected_gene': 'ZSWIM5', 'score': 5.04}, {'connected_gene': 'RPL7AP16', 'score': 0.44}, {'connected_gene': 'TMEM69', 'score': 0.31}]
chr1 GH01I045801 45801943 45805585 2.28 [{'connected_gene': 'MAST2', 'score': 577.13}, {'connected_gene': 'GPBP1L1', 'score': 31.95}, {'connected_gene': 'CCDC163', 'score': 29.12}, {'connected_gene': 'EFCAB14-AS1', 'score': 25.23}, {'connected_gene': 'RPL7AP16', 'score': 24.92}, {'connected_gene': 'TOE1', 'score': 22.58}, {'connected_gene': 'LRRC41', 'score': 13.6}, {'connected_gene': 'MOB3C', 'score': 12.14}, {'connected_gene': 'IPP', 'score': 12.03}, {'connected_gene': 'CCDC17', 'score': 11.58}, {'connected_gene': 'HECTD3', 'score': 10.32}, {'connected_gene': 'TMA16P2', 'score': 0.26}]
chr1 GH01I045924 45924518 45930977 1.06 [{'connected_gene': 'MAST2', 'score': 26.9}, {'connected_gene': 'GPBP1L1', 'score': 21.1}, {'connected_gene': 'RPL7AP16', 'score': 20.79}, {'connected_gene': 'LRRC41', 'score': 13.2}, {'connected_gene': 'TOE1', 'score': 12.43}, {'connected_gene': 'ENSG00000226957', 'score': 10.12}, {'connected_gene': 'EFCAB14-AS1', 'score': 10.03}, {'connected_gene': 'NASP', 'score': 9.8}, {'connected_gene': 'IPP', 'score': 5.81}, {'connected_gene': 'CCDC163', 'score': 5.57}, {'connected_gene': 'GC01P045917', 'score': 0.39}, {'connected_gene': 'GC01M046029', 'score': 0.14}]
chr1 GH01I045769 45769200 45769647 0.82 [{'connected_gene': 'MAST2', 'score': 9.51}, {'connected_gene': 'IPP', 'score': 9.25}, {'connected_gene': 'RPL6P1', 'score': 0.39}, {'connected_gene': 'LOC105378693', 'score': 0.37}]
chr1 GH01I045541 45541401 45546300 1.49 [{'connected_gene': 'CCDC163', 'score': 24.28}, {'connected_gene': 'PRDX1', 'score': 22.94}, {'connected_gene': 'IPP', 'score': 8.38}, {'connected_gene': 'AKR1A1', 'score': 7.42}, {'connected_gene': 'MMACHC', 'score': 4.69}, {'connected_gene': 'TESK2', 'score': 4.0}, {'connected_gene': 'GPBP1L1', 'score': 2.06}, {'connected_gene': 'TOE1', 'score': 1.52}, {'connected_gene': 'GC01P045551', 'score': 0.44}, {'connected_gene': 'HMGB1P48', 'score': 0.39}]
chr1 GH01I045642 45642904 45645560 0.54 [{'connected_gene': 'CCDC163', 'score': 37.22}, {'connected_gene': 'MAST2', 'score': 23.75}, {'connected_gene': 'GPBP1L1', 'score': 12.28}, {'connected_gene': 'TMEM69', 'score': 12.28}, {'connected_gene': 'IPP', 'score': 8.91}, {'connected_gene': 'RPS15AP10', 'score': 0.77}, {'connected_gene': 'GC01M045637', 'score': 0.44}]
chr1 GH01I045272 45272493 45273982 0.93 [{'connected_gene': 'PLK3', 'score': 12.82}, {'connected_gene': 'ZSWIM5', 'score': 9.37}, {'connected_gene': 'TCTEX1D4', 'score': 7.46}, {'connected_gene': 'IPP', 'score': 5.97}, {'connected_gene': 'BEST4', 'score': 5.06}, {'connected_gene': 'BTBD19', 'score': 2.54}, {'connected_gene': 'LOC105378691', 'score': 0.29}, {'connected_gene': 'GC01P045223', 'score': 0.23}]
chr1 GH01I045270 45270608 45270815 0.22 [{'connected_gene': 'PLK3', 'score': 11.41}, {'connected_gene': 'TCTEX1D4', 'score': 5.25}, {'connected_gene': 'IPP', 'score': 4.87}, {'connected_gene': 'BTBD19', 'score': 2.82}, {'connected_gene': 'LOC105378691', 'score': 0.29}, {'connected_gene': 'ZSWIM5', 'score': 0.28}, {'connected_gene': 'GC01P045223', 'score': 0.25}]
chr1 GH01I046299 46299973 46305583 2.31 [{'connected_gene': 'LRRC41', 'score': 595.66}, {'connected_gene': 'UQCRH', 'score': 550.77}, {'connected_gene': 'GC01P046304', 'score': 550.77}, {'connected_gene': 'GC01P046305', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 23.78}, {'connected_gene': 'LURAP1', 'score': 22.63}, {'connected_gene': 'TOE1', 'score': 22.15}, {'connected_gene': 'RPL7AP16', 'score': 14.98}, {'connected_gene': 'EFCAB14-AS1', 'score': 13.14}, {'connected_gene': 'NASP', 'score': 12.89}, {'connected_gene': 'RPS15AP10', 'score': 11.95}, {'connected_gene': 'MOB3C', 'score': 11.71}, {'connected_gene': 'IPP', 'score': 11.61}, {'connected_gene': 'EFCAB14', 'score': 11.12}, {'connected_gene': 'ZSWIM5', 'score': 10.33}, {'connected_gene': 'TMEM69', 'score': 10.06}, {'connected_gene': 'FAAH', 'score': 5.9}, {'connected_gene': 'CCDC163', 'score': 4.8}, {'connected_gene': 'GC01M046227', 'score': 0.44}]
chr1 GH01I045489 45489789 45492029 2.06 [{'connected_gene': 'TESK2', 'score': 550.77}, {'connected_gene': 'CCDC163', 'score': 98.58}, {'connected_gene': 'NSUN4', 'score': 28.55}, {'connected_gene': 'PRDX1', 'score': 25.58}, {'connected_gene': 'LRRC41', 'score': 22.72}, {'connected_gene': 'TOE1', 'score': 14.16}, {'connected_gene': 'IPP', 'score': 12.89}, {'connected_gene': 'GPBP1L1', 'score': 11.61}, {'connected_gene': 'KIF2C', 'score': 10.27}, {'connected_gene': 'ZSWIM5', 'score': 6.46}, {'connected_gene': 'MMACHC', 'score': 4.86}, {'connected_gene': 'PPIAP36', 'score': 0.18}]
chr1 GH01I044818 44818550 44821405 1.81 [{'connected_gene': 'RNU5E-6P', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 64.58}, {'connected_gene': 'TOE1', 'score': 64.17}, {'connected_gene': 'RPL7AP16', 'score': 36.07}, {'connected_gene': 'HECTD3', 'score': 32.22}, {'connected_gene': 'RPS8', 'score': 31.29}, {'connected_gene': 'MUTYH', 'score': 25.55}, {'connected_gene': 'RPS15AP10', 'score': 20.13}, {'connected_gene': 'DMAP1', 'score': 12.4}, {'connected_gene': 'BEST4', 'score': 11.22}, {'connected_gene': 'IPP', 'score': 10.72}, {'connected_gene': 'UROD', 'score': 6.4}, {'connected_gene': 'BTBD19', 'score': 5.21}, {'connected_gene': 'PTCH2', 'score': 0.34}]
chr1 GH01I044842 44842470 44843958 1.93 [{'connected_gene': 'ENSG00000226499', 'score': 550.77}, {'connected_gene': 'PTCH2', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 26.83}, {'connected_gene': 'DMAP1', 'score': 16.06}, {'connected_gene': 'MUTYH', 'score': 15.73}, {'connected_gene': 'ARTN', 'score': 12.86}, {'connected_gene': 'IPP', 'score': 11.6}, {'connected_gene': 'ERI3-IT1', 'score': 11.2}, {'connected_gene': 'NASP', 'score': 10.3}, {'connected_gene': 'UROD', 'score': 9.31}]
chr1 GH01I045582 45582131 45587567 2.09 [{'connected_gene': 'GC01M045583', 'score': 550.77}, {'connected_gene': 'NASP', 'score': 550.77}, {'connected_gene': 'GPBP1L1', 'score': 82.98}, {'connected_gene': 'TOE1', 'score': 76.58}, {'connected_gene': 'LRRC41', 'score': 68.35}, {'connected_gene': 'RPL7AP16', 'score': 47.33}, {'connected_gene': 'MUTYH', 'score': 43.01}, {'connected_gene': 'CCDC163', 'score': 37.82}, {'connected_gene': 'HECTD3', 'score': 37.18}, {'connected_gene': 'RPS8', 'score': 31.05}, {'connected_gene': 'ZSWIM5', 'score': 14.4}, {'connected_gene': 'RPS15AP10', 'score': 12.17}, {'connected_gene': 'CCDC17', 'score': 12.14}, {'connected_gene': 'NSUN4', 'score': 10.91}, {'connected_gene': 'LURAP1', 'score': 10.75}, {'connected_gene': 'IPP', 'score': 8.64}, {'connected_gene': 'MAST2', 'score': 7.45}, {'connected_gene': 'BEST4', 'score': 4.65}, {'connected_gene': 'ENSG00000281112', 'score': 0.44}]
chr1 GH01I045721 45721309 45721538 0.2 [{'connected_gene': 'ENSG00000230896', 'score': 0.34}, {'connected_gene': 'IPP', 'score': 0.31}]
chr1 GH01I045590 45590779 45591498 0.49 [{'connected_gene': 'ENSG00000281112', 'score': 550.77}, {'connected_gene': 'CCDC17', 'score': 12.16}, {'connected_gene': 'GPBP1L1', 'score': 12.02}, {'connected_gene': 'IPP', 'score': 7.81}, {'connected_gene': 'GC01M045583', 'score': 0.44}, {'connected_gene': 'NASP', 'score': 0.44}]

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