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
ENST00000449985 [[8076554, 8077590], [8079517, 8079691]] [[8077569, 8077590], [8079517, 8079604]]
ENST00000532998 [[8077059, 8079175], [8079276, 8079344], [8079517, 8079691]] [[8079006, 8079175], [8079276, 8079344], [8079517, 8079604]]
ENST00000437139 [[8077284, 8077590], [8077837, 8077934], [8079074, 8079175], [8079276, 8079344], [8079517, 8079692]] [[8077520, 8077590], [8077837, 8077934], [8079074, 8079175], [8079276, 8079344], [8079517, 8079604]]
ENST00000533070 [[8077316, 8077590], [8077858, 8077934], [8079074, 8079193], [8079276, 8079344], [8079517, 8079706]] [[8077520, 8077590], [8077858, 8077934], [8079074, 8079193], [8079276, 8079344], [8079517, 8079604]]
ENST00000316425 [[8077318, 8077590], [8077837, 8077934], [8079074, 8079193], [8079276, 8079344], [8079517, 8079717]] [[8077520, 8077590], [8077837, 8077934], [8079074, 8079193], [8079276, 8079344], [8079517, 8079604]]
ENST00000431792 [[8077320, 8077590], [8079276, 8079344], [8079517, 8079634]] [[8077520, 8077590], [8079276, 8079344], [8079517, 8079604]]
ENST00000526920 [[8077419, 8077934], [8079074, 8079710]] None
ENST00000529756 [[8077488, 8077590], [8077837, 8077934], [8079074, 8079705]] None
ENST00000417073 [[8077901, 8077934], [8079074, 8079344], [8079517, 8079694]] None
NM_032354 [[8076295, 8077590], [8077837, 8077934], [8079074, 8079193], [8079276, 8079344], [8079517, 8079714]] [[8077520, 8077590], [8077837, 8077934], [8079074, 8079193], [8079276, 8079344], [8079517, 8079604]]
NM_183065 [[8076295, 8077590], [8077837, 8077934], [8079074, 8079175], [8079276, 8079344], [8079517, 8079714]] [[8077520, 8077590], [8077837, 8077934], [8079074, 8079175], [8079276, 8079344], [8079517, 8079604]]
Promoter
Chrom Start End Description
chr17 8079632 8079639 CAGE_peak_2_at_TMEM107_5end
chr17 8079648 8079737 CAGE_peak_1_at_TMEM107_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I008117 8117442 8125092 2.33 [{'connected_gene': 'HES7', 'score': 571.1}, {'connected_gene': 'ALOXE3', 'score': 555.55}, {'connected_gene': 'TRL-TAG1-1', 'score': 550.77}, {'connected_gene': 'GC17M008514', 'score': 550.77}, {'connected_gene': 'TRQ-CTG1-5', 'score': 550.77}, {'connected_gene': 'TRR-TCT2-1', 'score': 550.77}, {'connected_gene': 'NEURL4', 'score': 67.33}, {'connected_gene': 'SENP3', 'score': 48.75}, {'connected_gene': 'NLGN2', 'score': 28.37}, {'connected_gene': 'DVL2', 'score': 27.41}, {'connected_gene': 'CTC1', 'score': 24.5}, {'connected_gene': 'PFAS', 'score': 22.52}, {'connected_gene': 'LOC100996842', 'score': 21.0}, {'connected_gene': 'CYB5D1', 'score': 20.75}, {'connected_gene': 'ZBTB4', 'score': 20.19}, {'connected_gene': 'SNORD10', 'score': 16.69}, {'connected_gene': 'ATP1B2', 'score': 14.27}, {'connected_gene': 'SNORA48', 'score': 13.66}, {'connected_gene': 'VAMP2', 'score': 13.36}, {'connected_gene': 'DLG4', 'score': 13.31}, {'connected_gene': 'MIR324', 'score': 12.42}, {'connected_gene': 'SNORD118', 'score': 11.72}, {'connected_gene': 'TMEM107', 'score': 11.71}, {'connected_gene': 'BORCS6', 'score': 11.48}, {'connected_gene': 'PLSCR3', 'score': 11.23}, {'connected_gene': 'CNTROB', 'score': 11.2}, {'connected_gene': 'ENSG00000269947', 'score': 11.14}, {'connected_gene': 'KDM6B', 'score': 11.08}, {'connected_gene': 'WRAP53', 'score': 10.68}, {'connected_gene': 'KCNAB3', 'score': 10.63}, {'connected_gene': 'PER1', 'score': 10.53}, {'connected_gene': 'EIF4A1', 'score': 10.14}, {'connected_gene': 'SPEM2', 'score': 6.9}, {'connected_gene': 'TRK-TTT3-5', 'score': 0.77}]
chr17 GH17I008126 8125555 8127624 1.74 [{'connected_gene': 'HES7', 'score': 570.02}, {'connected_gene': 'PIR51497', 'score': 550.77}, {'connected_gene': 'LOC105376799', 'score': 550.77}, {'connected_gene': 'TRG-GCC2-6', 'score': 550.77}, {'connected_gene': 'NEURL4', 'score': 36.83}, {'connected_gene': 'SENP3', 'score': 29.82}, {'connected_gene': 'LOC100996842', 'score': 21.0}, {'connected_gene': 'DVL2', 'score': 13.45}, {'connected_gene': 'SNORD118', 'score': 12.44}, {'connected_gene': 'TMEM107', 'score': 12.44}, {'connected_gene': 'CYB5D1', 'score': 11.88}, {'connected_gene': 'PFAS', 'score': 11.36}, {'connected_gene': 'ENSG00000269947', 'score': 11.14}, {'connected_gene': 'BORCS6', 'score': 11.13}, {'connected_gene': 'CHD3', 'score': 10.64}, {'connected_gene': 'KCNAB3', 'score': 10.63}, {'connected_gene': 'ZBTB4', 'score': 9.99}, {'connected_gene': 'ALOX15B', 'score': 9.91}]
chr17 GH17I008134 8134063 8134081 0.46 [{'connected_gene': 'SNORD118', 'score': 12.12}, {'connected_gene': 'TMEM107', 'score': 12.1}, {'connected_gene': 'AURKB', 'score': 10.52}, {'connected_gene': 'CTC1', 'score': 10.37}, {'connected_gene': 'PFAS', 'score': 10.37}, {'connected_gene': 'TRS-CGA1-1', 'score': 0.77}, {'connected_gene': 'GC17M008512', 'score': 0.77}, {'connected_gene': 'LOC105376799', 'score': 0.44}]
chr17 GH17I008133 8133282 8134003 0.56 [{'connected_gene': 'SNORD118', 'score': 12.47}, {'connected_gene': 'TMEM107', 'score': 12.46}, {'connected_gene': 'BORCS6', 'score': 11.15}, {'connected_gene': 'CHD3', 'score': 10.64}, {'connected_gene': 'AURKB', 'score': 10.52}, {'connected_gene': 'PFAS', 'score': 10.4}, {'connected_gene': 'CTC1', 'score': 10.37}, {'connected_gene': 'ALOX15B', 'score': 10.16}, {'connected_gene': 'ENSG00000226871', 'score': 4.58}, {'connected_gene': 'TRS-CGA1-1', 'score': 0.44}, {'connected_gene': 'LOC105376799', 'score': 0.44}, {'connected_gene': 'GC17M008512', 'score': 0.44}]
chr17 GH17I008172 8172372 8177561 2.37 [{'connected_gene': 'SNORD118', 'score': 550.77}, {'connected_gene': 'TMEM107', 'score': 550.77}, {'connected_gene': 'GC17M008511', 'score': 550.77}, {'connected_gene': 'LOC105371520', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 120.98}, {'connected_gene': 'CTC1', 'score': 108.83}, {'connected_gene': 'CNTROB', 'score': 103.01}, {'connected_gene': 'POLR2A', 'score': 94.41}, {'connected_gene': 'WRAP53', 'score': 93.86}, {'connected_gene': 'SNORD10', 'score': 82.64}, {'connected_gene': 'PFAS', 'score': 81.08}, {'connected_gene': 'KDM6B', 'score': 74.25}, {'connected_gene': 'SNORA48', 'score': 62.39}, {'connected_gene': 'PER1', 'score': 57.94}, {'connected_gene': 'ENSG00000265749', 'score': 53.22}, {'connected_gene': 'EIF4A1', 'score': 52.47}, {'connected_gene': 'MIR324', 'score': 41.95}, {'connected_gene': 'PLSCR3', 'score': 40.31}, {'connected_gene': 'KCTD11', 'score': 29.38}, {'connected_gene': 'TP53', 'score': 28.33}, {'connected_gene': 'SENP3', 'score': 27.48}, {'connected_gene': 'GPS2', 'score': 24.12}, {'connected_gene': 'RPL26', 'score': 19.72}, {'connected_gene': 'NEURL4', 'score': 17.99}, {'connected_gene': 'VAMP2', 'score': 12.28}, {'connected_gene': 'CYB5D1', 'score': 11.88}, {'connected_gene': 'ATP1B2', 'score': 10.94}, {'connected_gene': 'ENSG00000269947', 'score': 10.47}, {'connected_gene': 'HES7', 'score': 10.4}, {'connected_gene': 'NLGN2', 'score': 10.22}, {'connected_gene': 'SLC25A35', 'score': 10.09}, {'connected_gene': 'CHD3', 'score': 9.91}, {'connected_gene': 'LOC100996842', 'score': 9.9}, {'connected_gene': 'ALOXE3', 'score': 4.87}, {'connected_gene': 'KRBA2', 'score': 4.66}, {'connected_gene': 'SPEM2', 'score': 4.45}]
chr17 GH17I007571 7571056 7585261 2.56 [{'connected_gene': 'SNORD10', 'score': 599.71}, {'connected_gene': 'EIF4A1', 'score': 584.56}, {'connected_gene': 'SNORA67', 'score': 550.77}, {'connected_gene': 'PIR46508', 'score': 550.77}, {'connected_gene': 'CD68', 'score': 550.77}, {'connected_gene': 'GC17P007742', 'score': 550.77}, {'connected_gene': 'GC17P007737', 'score': 550.77}, {'connected_gene': 'GC17P007739', 'score': 550.77}, {'connected_gene': 'GC17P007735', 'score': 550.77}, {'connected_gene': 'MPDU1', 'score': 550.44}, {'connected_gene': 'DVL2', 'score': 90.08}, {'connected_gene': 'PFAS', 'score': 62.14}, {'connected_gene': 'CTC1', 'score': 55.51}, {'connected_gene': 'SNORA48', 'score': 45.17}, {'connected_gene': 'CNTROB', 'score': 41.8}, {'connected_gene': 'POLR2A', 'score': 40.65}, {'connected_gene': 'ENSG00000262089', 'score': 34.89}, {'connected_gene': 'PLSCR3', 'score': 32.41}, {'connected_gene': 'PER1', 'score': 31.89}, {'connected_gene': 'ENSG00000265749', 'score': 30.9}, {'connected_gene': 'KDM6B', 'score': 26.87}, {'connected_gene': 'SAT2', 'score': 25.39}, {'connected_gene': 'GPS2', 'score': 24.16}, {'connected_gene': 'WRAP53', 'score': 24.12}, {'connected_gene': 'KCTD11', 'score': 21.1}, {'connected_gene': 'TP53', 'score': 20.21}, {'connected_gene': 'SENP3', 'score': 19.8}, {'connected_gene': 'MIR324', 'score': 19.24}, {'connected_gene': 'LOC100996842', 'score': 18.62}, {'connected_gene': 'RPL26', 'score': 13.87}, {'connected_gene': 'SHBG', 'score': 10.33}, {'connected_gene': 'CHD3', 'score': 9.91}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NEURL4', 'score': 9.7}, {'connected_gene': 'CHRNB1', 'score': 9.4}, {'connected_gene': 'TNFSF12', 'score': 9.29}, {'connected_gene': 'ATP1B2', 'score': 7.18}, {'connected_gene': 'TMEM102', 'score': 6.07}, {'connected_gene': 'TNFSF13', 'score': 5.72}, {'connected_gene': 'TMEM107', 'score': 4.84}, {'connected_gene': 'PIR59849', 'score': 0.77}, {'connected_gene': 'GC17P007729', 'score': 0.77}, {'connected_gene': 'PIR46619', 'score': 0.44}, {'connected_gene': 'GC17P007743', 'score': 0.44}, {'connected_gene': 'ENSG00000264772', 'score': 0.44}, {'connected_gene': 'SENP3-EIF4A1', 'score': 0.37}]
chr17 GH17I008109 8109152 8110656 1.02 [{'connected_gene': 'ALOXE3', 'score': 17.64}, {'connected_gene': 'ALOX12B', 'score': 13.67}, {'connected_gene': 'LOC107985075', 'score': 13.62}, {'connected_gene': 'ALOX15B', 'score': 11.02}, {'connected_gene': 'SNORD118', 'score': 10.66}, {'connected_gene': 'TMEM107', 'score': 10.65}, {'connected_gene': 'CNTROB', 'score': 10.21}, {'connected_gene': 'TRAPPC1', 'score': 10.21}, {'connected_gene': 'KCNAB3', 'score': 10.2}, {'connected_gene': 'PFAS', 'score': 9.91}, {'connected_gene': 'MIR4314', 'score': 0.34}]
chr17 GH17I008105 8105862 8106966 0.66 [{'connected_gene': 'ALOXE3', 'score': 33.39}, {'connected_gene': 'LOC107985075', 'score': 13.64}, {'connected_gene': 'ALOX15B', 'score': 11.03}, {'connected_gene': 'SNORD118', 'score': 10.65}, {'connected_gene': 'TMEM107', 'score': 10.65}, {'connected_gene': 'KCNAB3', 'score': 10.21}, {'connected_gene': 'CNTROB', 'score': 10.21}, {'connected_gene': 'TRAPPC1', 'score': 10.21}, {'connected_gene': 'PFAS', 'score': 9.91}, {'connected_gene': 'BORCS6', 'score': 5.68}, {'connected_gene': 'MIR4314', 'score': 0.37}]
chr17 GH17I008326 8326203 8327800 0.77 [{'connected_gene': 'PFAS', 'score': 24.44}, {'connected_gene': 'CTC1', 'score': 23.49}, {'connected_gene': 'CNTROB', 'score': 18.19}, {'connected_gene': 'POLR2A', 'score': 15.11}, {'connected_gene': 'WRAP53', 'score': 14.6}, {'connected_gene': 'ENSG00000265749', 'score': 13.79}, {'connected_gene': 'ODF4', 'score': 12.42}, {'connected_gene': 'KRBA2', 'score': 11.51}, {'connected_gene': 'SLC25A35', 'score': 11.27}, {'connected_gene': 'RANGRF', 'score': 11.25}, {'connected_gene': 'KDM6B', 'score': 10.61}, {'connected_gene': 'SNORD10', 'score': 10.33}, {'connected_gene': 'AURKB', 'score': 10.0}, {'connected_gene': 'RNF222', 'score': 9.71}, {'connected_gene': 'SNORD118', 'score': 9.65}, {'connected_gene': 'TMEM107', 'score': 9.65}, {'connected_gene': 'ENSG00000226871', 'score': 7.89}, {'connected_gene': 'GC17P008331', 'score': 0.77}]
chr17 GH17I008181 8181923 8182172 0.64 [{'connected_gene': 'PER1', 'score': 13.11}, {'connected_gene': 'AURKB', 'score': 11.56}, {'connected_gene': 'HES7', 'score': 11.45}, {'connected_gene': 'LINC00324', 'score': 11.4}, {'connected_gene': 'PIR61027', 'score': 0.77}, {'connected_gene': 'GC17M008517', 'score': 0.77}, {'connected_gene': 'TMEM107', 'score': 0.44}, {'connected_gene': 'LOC105371520', 'score': 0.44}]
chr17 GH17I008182 8182223 8182372 0.59 [{'connected_gene': 'PER1', 'score': 13.11}, {'connected_gene': 'AURKB', 'score': 11.56}, {'connected_gene': 'HES7', 'score': 11.45}, {'connected_gene': 'LINC00324', 'score': 11.4}, {'connected_gene': 'PIR61027', 'score': 0.77}, {'connected_gene': 'GC17M008517', 'score': 0.77}, {'connected_gene': 'TMEM107', 'score': 0.44}, {'connected_gene': 'LOC105371520', 'score': 0.44}]
chr17 GH17I008060 8060303 8060472 0.65 [{'connected_gene': 'ALOX12B', 'score': 13.19}, {'connected_gene': 'ALOX15B', 'score': 11.34}, {'connected_gene': 'GUCY2D', 'score': 11.11}, {'connected_gene': 'SNORD118', 'score': 10.61}, {'connected_gene': 'TMEM107', 'score': 10.6}, {'connected_gene': 'ALOXE3P1', 'score': 0.77}, {'connected_gene': 'ENSG00000263427', 'score': 0.77}]
chr17 GH17I007625 7625302 7631144 2.01 [{'connected_gene': 'SAT2', 'score': 576.35}, {'connected_gene': 'GC17P007740', 'score': 550.77}, {'connected_gene': 'GC17P007715', 'score': 550.77}, {'connected_gene': 'GC17P007716', 'score': 550.77}, {'connected_gene': 'SHBG', 'score': 550.39}, {'connected_gene': 'CHRNB1', 'score': 14.78}, {'connected_gene': 'DVL2', 'score': 12.53}, {'connected_gene': 'WRAP53', 'score': 11.68}, {'connected_gene': 'TP53', 'score': 11.68}, {'connected_gene': 'EFNB3', 'score': 11.0}, {'connected_gene': 'SENP3', 'score': 10.79}, {'connected_gene': 'DNAH2', 'score': 10.59}, {'connected_gene': 'CNTROB', 'score': 10.31}, {'connected_gene': 'TRAPPC1', 'score': 10.31}, {'connected_gene': 'KCNAB3', 'score': 10.31}, {'connected_gene': 'TNFSF12', 'score': 9.24}, {'connected_gene': 'FGF11', 'score': 5.93}, {'connected_gene': 'TMEM107', 'score': 4.9}]
chr17 GH17I008128 8128512 8128667 0.52 [{'connected_gene': 'LOC105376799', 'score': 550.77}, {'connected_gene': 'ODF4', 'score': 31.33}, {'connected_gene': 'SNORD118', 'score': 12.46}, {'connected_gene': 'TMEM107', 'score': 12.44}, {'connected_gene': 'BORCS6', 'score': 11.13}, {'connected_gene': 'CHD3', 'score': 10.64}, {'connected_gene': 'ALOX15B', 'score': 9.91}, {'connected_gene': 'CNTROB', 'score': 2.49}, {'connected_gene': 'TRS-CGA1-1', 'score': 0.39}, {'connected_gene': 'GC17M008512', 'score': 0.39}]
chr17 GH17I008062 8062431 8063238 0.88 [{'connected_gene': 'ALOXE3P1', 'score': 550.77}, {'connected_gene': 'ALOX12B', 'score': 13.22}, {'connected_gene': 'CYB5D1', 'score': 11.9}, {'connected_gene': 'ALOX15B', 'score': 11.34}, {'connected_gene': 'GUCY2D', 'score': 11.1}, {'connected_gene': 'SNORD118', 'score': 10.61}, {'connected_gene': 'TMEM107', 'score': 10.61}, {'connected_gene': 'HES7', 'score': 10.36}, {'connected_gene': 'ENSG00000263427', 'score': 0.44}]
chr17 GH17I008199 8199548 8201136 1.16 [{'connected_gene': 'ENSG00000271002', 'score': 550.77}, {'connected_gene': 'NLGN2', 'score': 14.6}, {'connected_gene': 'LINC00324', 'score': 12.07}, {'connected_gene': 'TMEM107', 'score': 11.59}, {'connected_gene': 'SNORD118', 'score': 11.56}, {'connected_gene': 'CTC1', 'score': 11.41}, {'connected_gene': 'PFAS', 'score': 11.41}, {'connected_gene': 'ENSG00000269947', 'score': 10.9}, {'connected_gene': 'NEURL4', 'score': 10.76}, {'connected_gene': 'SENP3', 'score': 10.54}, {'connected_gene': 'HES7', 'score': 10.34}, {'connected_gene': 'GC17P008255', 'score': 0.77}]

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