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
ENST00000301599 [[7758382, 7758602], [7758762, 7759417]] [[7758392, 7758602], [7758762, 7759032]]
ENST00000574668 [[7758383, 7758602], [7759088, 7759379]] [[7758392, 7758602], [7759088, 7759259]]
NM_001319941 [[7758383, 7758602], [7759088, 7759417]] [[7758392, 7758602], [7759088, 7759259]]
NM_203411 [[7758383, 7758602], [7758762, 7759417]] [[7758392, 7758602], [7758762, 7759032]]
Promoter
Chrom Start End Description
chr17 7758374 7758390 CAGE_peak_1_at_TMEM88_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I007853 7853483 7853546 0.31 [{'connected_gene': 'TMEM88', 'score': 550.77}, {'connected_gene': 'PIR44061', 'score': 0.44}, {'connected_gene': 'KDM6B', 'score': 0.37}]
chr17 GH17I007855 7853003 7853252 0.31 [{'connected_gene': 'TMEM88', 'score': 550.77}, {'connected_gene': 'PIR44061', 'score': 0.77}, {'connected_gene': 'KDM6B', 'score': 0.37}]
chr17 GH17I007878 7878486 7878887 0.39 [{'connected_gene': 'TMEM88', 'score': 12.7}, {'connected_gene': 'CYB5D1', 'score': 12.7}, {'connected_gene': 'SCARNA21', 'score': 11.44}, {'connected_gene': 'GUCY2D', 'score': 10.35}, {'connected_gene': 'KCNAB3', 'score': 10.32}, {'connected_gene': 'CNTROB', 'score': 10.32}, {'connected_gene': 'TRAPPC1', 'score': 10.32}, {'connected_gene': 'NAA38', 'score': 7.67}, {'connected_gene': 'GC17P007887', 'score': 0.44}, {'connected_gene': 'ENSG00000280046', 'score': 0.37}]
chr17 GH17I007989 7989283 7990991 1.18 [{'connected_gene': 'KCNAB3', 'score': 26.32}, {'connected_gene': 'ALOX15B', 'score': 11.97}, {'connected_gene': 'CNTROB', 'score': 11.79}, {'connected_gene': 'TRAPPC1', 'score': 11.79}, {'connected_gene': 'SCARNA21', 'score': 11.72}, {'connected_gene': 'CHD3', 'score': 11.68}, {'connected_gene': 'NAA38', 'score': 11.18}, {'connected_gene': 'TMEM88', 'score': 11.15}, {'connected_gene': 'CYB5D1', 'score': 11.15}, {'connected_gene': 'RNF227', 'score': 6.47}, {'connected_gene': 'GUCY2D', 'score': 0.39}, {'connected_gene': 'LOC105371517', 'score': 0.28}]
chr17 GH17I007882 7882976 7890246 2.53 [{'connected_gene': 'NAA38', 'score': 558.03}, {'connected_gene': 'CHD3', 'score': 554.14}, {'connected_gene': 'KDM6B', 'score': 27.93}, {'connected_gene': 'NLGN2', 'score': 14.62}, {'connected_gene': 'WRAP53', 'score': 12.87}, {'connected_gene': 'CYB5D1', 'score': 12.75}, {'connected_gene': 'TMEM88', 'score': 12.74}, {'connected_gene': 'KCNAB3', 'score': 11.34}, {'connected_gene': 'CNTROB', 'score': 11.32}, {'connected_gene': 'TRAPPC1', 'score': 11.32}, {'connected_gene': 'ENSG00000269947', 'score': 10.77}, {'connected_gene': 'NEURL4', 'score': 10.76}, {'connected_gene': 'GUCY2D', 'score': 10.75}, {'connected_gene': 'SENP3', 'score': 10.56}, {'connected_gene': 'ALOX15B', 'score': 10.52}, {'connected_gene': 'HES7', 'score': 10.21}, {'connected_gene': 'C17orf49', 'score': 9.9}, {'connected_gene': 'CTC1', 'score': 3.08}, {'connected_gene': 'PER1', 'score': 2.43}, {'connected_gene': 'POLR2A', 'score': 1.64}, {'connected_gene': 'GC17P007887', 'score': 0.77}, {'connected_gene': 'GC17P007907', 'score': 0.37}]
chr17 GH17I007850 7850578 7852872 1.32 [{'connected_gene': 'SENP3', 'score': 10.61}, {'connected_gene': 'CHD3', 'score': 10.14}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NEURL4', 'score': 9.66}, {'connected_gene': 'NAA38', 'score': 7.6}, {'connected_gene': 'CYB5D1', 'score': 7.39}, {'connected_gene': 'BORCS6', 'score': 5.91}, {'connected_gene': 'ARHGEF15', 'score': 5.69}, {'connected_gene': 'KDM6B', 'score': 4.95}, {'connected_gene': 'TMEM88', 'score': 0.77}, {'connected_gene': 'PIR44061', 'score': 0.77}]
chr17 GH17I007992 7992603 7992752 0.31 [{'connected_gene': 'ALOX15B', 'score': 11.97}, {'connected_gene': 'KCNAB3', 'score': 11.78}, {'connected_gene': 'CNTROB', 'score': 11.78}, {'connected_gene': 'TRAPPC1', 'score': 11.78}, {'connected_gene': 'SCARNA21', 'score': 11.71}, {'connected_gene': 'CHD3', 'score': 11.68}, {'connected_gene': 'NAA38', 'score': 11.18}, {'connected_gene': 'TMEM88', 'score': 11.15}, {'connected_gene': 'CYB5D1', 'score': 11.15}, {'connected_gene': 'GUCY2D', 'score': 0.44}, {'connected_gene': 'LOC105371517', 'score': 0.26}]
chr17 GH17I007988 7988803 7989012 0.73 [{'connected_gene': 'ALOX15B', 'score': 11.96}, {'connected_gene': 'KCNAB3', 'score': 11.79}, {'connected_gene': 'CNTROB', 'score': 11.79}, {'connected_gene': 'TRAPPC1', 'score': 11.79}, {'connected_gene': 'SCARNA21', 'score': 11.72}, {'connected_gene': 'CHD3', 'score': 11.69}, {'connected_gene': 'NAA38', 'score': 11.18}, {'connected_gene': 'TMEM88', 'score': 11.15}, {'connected_gene': 'CYB5D1', 'score': 11.15}, {'connected_gene': 'GUCY2D', 'score': 0.39}, {'connected_gene': 'LOC105371517', 'score': 0.28}]
chr17 GH17I008072 8072743 8072892 0.46 [{'connected_gene': 'ALOX15B', 'score': 11.21}, {'connected_gene': 'NAA38', 'score': 10.44}, {'connected_gene': 'TMEM88', 'score': 10.43}, {'connected_gene': 'CYB5D1', 'score': 10.43}, {'connected_gene': 'ALOXE3P1', 'score': 0.44}, {'connected_gene': 'LOC107985075', 'score': 0.44}, {'connected_gene': 'ALOX12B', 'score': 0.39}]
chr17 GH17I008068 8068618 8069836 0.63 [{'connected_gene': 'ALOX15B', 'score': 11.21}, {'connected_gene': 'NAA38', 'score': 10.44}, {'connected_gene': 'TMEM88', 'score': 10.43}, {'connected_gene': 'CYB5D1', 'score': 10.43}, {'connected_gene': 'ALOXE3P1', 'score': 0.44}, {'connected_gene': 'LOC107985075', 'score': 0.39}]
chr17 GH17I007991 7991043 7991192 0.2 [{'connected_gene': 'ALOX15B', 'score': 11.97}, {'connected_gene': 'CNTROB', 'score': 11.79}, {'connected_gene': 'TRAPPC1', 'score': 11.79}, {'connected_gene': 'KCNAB3', 'score': 11.78}, {'connected_gene': 'SCARNA21', 'score': 11.72}, {'connected_gene': 'CHD3', 'score': 11.68}, {'connected_gene': 'NAA38', 'score': 11.18}, {'connected_gene': 'TMEM88', 'score': 11.15}, {'connected_gene': 'CYB5D1', 'score': 11.15}, {'connected_gene': 'GUCY2D', 'score': 0.39}, {'connected_gene': 'LOC105371517', 'score': 0.28}]
chr17 GH17I007747 7747139 7748903 0.6 [{'connected_gene': 'DNAH2', 'score': 11.44}, {'connected_gene': 'EFNB3', 'score': 11.18}, {'connected_gene': 'WRAP53', 'score': 11.12}, {'connected_gene': 'ALOX15B', 'score': 10.52}, {'connected_gene': 'TMEM88', 'score': 10.21}, {'connected_gene': 'CYB5D1', 'score': 10.21}, {'connected_gene': 'NAA38', 'score': 10.19}, {'connected_gene': 'RPL29P2', 'score': 0.44}]
chr17 GH17I007749 7749621 7751441 0.6 [{'connected_gene': 'DNAH2', 'score': 11.44}, {'connected_gene': 'EFNB3', 'score': 11.16}, {'connected_gene': 'WRAP53', 'score': 11.12}, {'connected_gene': 'ALOX15B', 'score': 10.52}, {'connected_gene': 'TMEM88', 'score': 10.22}, {'connected_gene': 'CYB5D1', 'score': 10.21}, {'connected_gene': 'NAA38', 'score': 10.19}, {'connected_gene': 'LOC100996842', 'score': 9.97}, {'connected_gene': 'RPL29P2', 'score': 0.77}]
chr17 GH17I007881 7880401 7880600 0.57 [{'connected_gene': 'CYB5D1', 'score': 12.7}, {'connected_gene': 'TMEM88', 'score': 12.67}, {'connected_gene': 'SCARNA21', 'score': 11.67}, {'connected_gene': 'KCNAB3', 'score': 10.76}, {'connected_gene': 'CNTROB', 'score': 10.74}, {'connected_gene': 'TRAPPC1', 'score': 10.74}, {'connected_gene': 'GUCY2D', 'score': 10.35}, {'connected_gene': 'GC17P007887', 'score': 0.77}, {'connected_gene': 'NAA38', 'score': 0.77}, {'connected_gene': 'ENSG00000280046', 'score': 0.34}]
chr17 GH17I007896 7896965 7898532 0.65 [{'connected_gene': 'CYB5D1', 'score': 25.62}, {'connected_gene': 'KCNAB3', 'score': 20.75}, {'connected_gene': 'KDM6B', 'score': 17.47}, {'connected_gene': 'TMEM88', 'score': 12.28}, {'connected_gene': 'NEURL4', 'score': 12.12}, {'connected_gene': 'SENP3', 'score': 12.05}, {'connected_gene': 'ALOX15B', 'score': 11.21}, {'connected_gene': 'CNTROB', 'score': 11.18}, {'connected_gene': 'TRAPPC1', 'score': 11.18}, {'connected_gene': 'ZBTB4', 'score': 10.97}, {'connected_gene': 'GUCY2D', 'score': 10.68}, {'connected_gene': 'RANGRF', 'score': 9.93}, {'connected_gene': 'GC17P007907', 'score': 0.44}, {'connected_gene': 'CHD3', 'score': 0.39}, {'connected_gene': 'NAA38', 'score': 0.39}]
chr17 GH17I007854 7854473 7859457 2.3 [{'connected_gene': 'CYB5D1', 'score': 561.44}, {'connected_gene': 'NAA38', 'score': 557.53}, {'connected_gene': 'GC17P007860', 'score': 550.77}, {'connected_gene': 'TMEM88', 'score': 550.77}, {'connected_gene': 'ENSG00000280046', 'score': 550.77}, {'connected_gene': 'SNORD10', 'score': 14.05}, {'connected_gene': 'DVL2', 'score': 12.77}, {'connected_gene': 'PFAS', 'score': 11.9}, {'connected_gene': 'SNORA48', 'score': 11.72}, {'connected_gene': 'CTC1', 'score': 11.29}, {'connected_gene': 'RNASEK', 'score': 10.98}, {'connected_gene': 'SENP3', 'score': 10.61}, {'connected_gene': 'PER1', 'score': 10.23}, {'connected_gene': 'CHD3', 'score': 10.16}, {'connected_gene': 'ENSG00000265749', 'score': 10.0}, {'connected_gene': 'ENSG00000262089', 'score': 9.9}, {'connected_gene': 'PLSCR3', 'score': 9.84}, {'connected_gene': 'ALOX12-AS1', 'score': 9.79}, {'connected_gene': 'NEURL4', 'score': 9.66}, {'connected_gene': 'BORCS6', 'score': 5.91}, {'connected_gene': 'KDM6B', 'score': 0.34}]
chr17 GH17I007754 7754139 7754347 0.24 [{'connected_gene': 'RPL29P2', 'score': 550.77}, {'connected_gene': 'WRAP53', 'score': 15.47}, {'connected_gene': 'SLC35G6', 'score': 12.16}, {'connected_gene': 'DNAH2', 'score': 11.42}, {'connected_gene': 'EFNB3', 'score': 11.16}, {'connected_gene': 'ALOX15B', 'score': 10.52}, {'connected_gene': 'TMEM88', 'score': 10.22}, {'connected_gene': 'CYB5D1', 'score': 10.22}, {'connected_gene': 'NAA38', 'score': 10.19}, {'connected_gene': 'NLGN2', 'score': 2.69}, {'connected_gene': 'GC17M007753', 'score': 0.77}]
chr17 GH17I007880 7880634 7882400 1.17 [{'connected_gene': 'CNTROB', 'score': 23.23}, {'connected_gene': 'SCARNA21', 'score': 21.77}, {'connected_gene': 'CYB5D1', 'score': 18.56}, {'connected_gene': 'SNORD10', 'score': 14.2}, {'connected_gene': 'SNORA48', 'score': 13.35}, {'connected_gene': 'DVL2', 'score': 12.95}, {'connected_gene': 'EIF4A1', 'score': 12.03}, {'connected_gene': 'CTC1', 'score': 11.97}, {'connected_gene': 'ENSG00000262089', 'score': 11.93}, {'connected_gene': 'TMEM88', 'score': 11.93}, {'connected_gene': 'ENSG00000265749', 'score': 11.81}, {'connected_gene': 'WRAP53', 'score': 11.02}, {'connected_gene': 'TP53', 'score': 10.99}, {'connected_gene': 'PLSCR3', 'score': 10.83}, {'connected_gene': 'KCNAB3', 'score': 10.76}, {'connected_gene': 'TRAPPC1', 'score': 10.74}, {'connected_gene': 'KCTD11', 'score': 10.6}, {'connected_gene': 'PFAS', 'score': 10.53}, {'connected_gene': 'SLC25A35', 'score': 10.47}, {'connected_gene': 'POLR2A', 'score': 10.27}, {'connected_gene': 'GUCY2D', 'score': 10.14}, {'connected_gene': 'NAA38', 'score': 9.55}, {'connected_gene': 'ATP1B2', 'score': 3.38}, {'connected_gene': 'CD68', 'score': 2.26}, {'connected_gene': 'VAMP2', 'score': 1.26}, {'connected_gene': 'GC17P007887', 'score': 0.77}, {'connected_gene': 'ENSG00000280046', 'score': 0.34}]
chr17 GH17I007912 7912523 7913458 0.75 [{'connected_gene': 'PIR53872', 'score': 550.77}, {'connected_gene': 'NAA38', 'score': 11.56}, {'connected_gene': 'TMEM88', 'score': 11.47}, {'connected_gene': 'CYB5D1', 'score': 11.47}, {'connected_gene': 'GUCY2D', 'score': 11.34}, {'connected_gene': 'ALOX15B', 'score': 10.84}, {'connected_gene': 'RNF227', 'score': 6.04}, {'connected_gene': 'SCARNA21', 'score': 0.44}, {'connected_gene': 'CHD3', 'score': 0.31}]
chr17 GH17I007914 7914467 7917414 1.52 [{'connected_gene': 'RNF227', 'score': 559.52}, {'connected_gene': 'PIR53872', 'score': 550.77}, {'connected_gene': 'CTC1', 'score': 29.28}, {'connected_gene': 'CNTROB', 'score': 27.73}, {'connected_gene': 'WRAP53', 'score': 27.04}, {'connected_gene': 'KDM6B', 'score': 26.63}, {'connected_gene': 'POLR2A', 'score': 25.85}, {'connected_gene': 'DVL2', 'score': 23.94}, {'connected_gene': 'SNORD10', 'score': 22.39}, {'connected_gene': 'PFAS', 'score': 21.76}, {'connected_gene': 'ENSG00000262089', 'score': 20.83}, {'connected_gene': 'ENSG00000265749', 'score': 13.56}, {'connected_gene': 'KCNAB3', 'score': 12.11}, {'connected_gene': 'EIF4A1', 'score': 11.66}, {'connected_gene': 'NAA38', 'score': 11.55}, {'connected_gene': 'SNORA48', 'score': 11.51}, {'connected_gene': 'CYB5D1', 'score': 11.47}, {'connected_gene': 'TMEM88', 'score': 11.46}, {'connected_gene': 'GUCY2D', 'score': 11.34}, {'connected_gene': 'ALOX15B', 'score': 10.84}, {'connected_gene': 'PLSCR3', 'score': 10.51}, {'connected_gene': 'MIR324', 'score': 10.4}, {'connected_gene': 'PER1', 'score': 10.24}, {'connected_gene': 'GPS2', 'score': 10.14}]
chr17 GH17I008073 8073723 8073892 0.78 [{'connected_gene': 'ENSG00000263427', 'score': 44.14}, {'connected_gene': 'DVL2', 'score': 12.51}, {'connected_gene': 'ALOX15B', 'score': 11.21}, {'connected_gene': 'SENP3', 'score': 10.62}, {'connected_gene': 'NAA38', 'score': 10.44}, {'connected_gene': 'TMEM88', 'score': 10.43}, {'connected_gene': 'CYB5D1', 'score': 10.43}, {'connected_gene': 'ALOXE3P1', 'score': 0.44}, {'connected_gene': 'LOC107985075', 'score': 0.44}, {'connected_gene': 'ALOX12B', 'score': 0.39}]
chr17 GH17I008055 8055601 8058221 1.15 [{'connected_gene': 'ENSG00000263427', 'score': 560.59}, {'connected_gene': 'LOC107985075', 'score': 17.24}, {'connected_gene': 'NAA38', 'score': 15.49}, {'connected_gene': 'GUCY2D', 'score': 11.64}, {'connected_gene': 'ALOX12B', 'score': 11.39}, {'connected_gene': 'KCNAB3', 'score': 11.08}, {'connected_gene': 'CNTROB', 'score': 11.08}, {'connected_gene': 'TRAPPC1', 'score': 11.08}, {'connected_gene': 'SCARNA21', 'score': 10.93}, {'connected_gene': 'CHD3', 'score': 10.92}, {'connected_gene': 'CYB5D1', 'score': 10.76}, {'connected_gene': 'TMEM88', 'score': 10.76}, {'connected_gene': 'DNAH2', 'score': 10.15}, {'connected_gene': 'KDM6B', 'score': 4.48}, {'connected_gene': 'GC17M008522', 'score': 0.37}]

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