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
ENST00000250092 [[7482784, 7483044], [7483127, 7483645], [7483783, 7483903], [7484028, 7484101], [7484213, 7484384], [7484695, 7485429]] [[7482995, 7483044], [7483127, 7483645], [7483783, 7483903], [7484028, 7484101], [7484213, 7484384], [7484695, 7484829]]
ENST00000380498 [[7482808, 7483044], [7483208, 7483645], [7483783, 7483903], [7484028, 7484101], [7484213, 7484384], [7484695, 7485429]] [[7482995, 7483044], [7483208, 7483645], [7483783, 7483903], [7484028, 7484101], [7484213, 7484384], [7484695, 7484829]]
ENST00000584502 [[7482955, 7483044], [7483166, 7483645], [7483783, 7483797]] [[7482995, 7483044], [7483166, 7483645], [7483783, 7483797]]
ENST00000584180 [[7483812, 7483903], [7484028, 7484101], [7484213, 7484940]] [[7483812, 7483903], [7484028, 7484101], [7484213, 7484413]]
NM_001251 [[7482804, 7483044], [7483127, 7483645], [7483783, 7483903], [7484028, 7484101], [7484213, 7484384], [7484695, 7485429]] [[7482995, 7483044], [7483127, 7483645], [7483783, 7483903], [7484028, 7484101], [7484213, 7484384], [7484695, 7484829]]
NM_001040059 [[7482805, 7483044], [7483208, 7483645], [7483783, 7483903], [7484028, 7484101], [7484213, 7484384], [7484695, 7485429]] [[7482995, 7483044], [7483208, 7483645], [7483783, 7483903], [7484028, 7484101], [7484213, 7484384], [7484695, 7484829]]
Promoter
Chrom Start End Description
chr17 7482899 7482979 CAGE_peak_1_at_CD68_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I007548 7548228 7554199 2.4 [{'connected_gene': 'TNFSF12', 'score': 572.74}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 550.77}, {'connected_gene': 'GC17M007548', 'score': 550.77}, {'connected_gene': 'SAT2', 'score': 22.45}, {'connected_gene': 'CHRNB1', 'score': 18.67}, {'connected_gene': 'ATP1B2', 'score': 7.35}, {'connected_gene': 'TMEM102', 'score': 4.64}, {'connected_gene': 'CD68', 'score': 1.93}, {'connected_gene': 'ACAP1', 'score': 1.52}, {'connected_gene': 'WRAP53', 'score': 1.33}]
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 GH17I007825 7825416 7825475 0.83 [{'connected_gene': 'WRAP53', 'score': 1.7}, {'connected_gene': 'PER1', 'score': 1.26}, {'connected_gene': 'POLR2A', 'score': 1.25}, {'connected_gene': 'CD68', 'score': 1.22}, {'connected_gene': 'LOC105371516', 'score': 0.44}, {'connected_gene': 'GC17M007788', 'score': 0.28}, {'connected_gene': 'DNAH2', 'score': 0.14}]
chr17 GH17I007474 7474332 7486846 2.66 [{'connected_gene': 'POLR2A', 'score': 630.98}, {'connected_gene': 'ZBTB4', 'score': 565.68}, {'connected_gene': 'SLC35G6', 'score': 553.06}, {'connected_gene': 'DVL2', 'score': 125.64}, {'connected_gene': 'PFAS', 'score': 84.1}, {'connected_gene': 'SNORD10', 'score': 80.83}, {'connected_gene': 'CTC1', 'score': 69.62}, {'connected_gene': 'WRAP53', 'score': 65.83}, {'connected_gene': 'SNORA48', 'score': 65.0}, {'connected_gene': 'CNTROB', 'score': 55.88}, {'connected_gene': 'PLSCR3', 'score': 50.14}, {'connected_gene': 'KCTD11', 'score': 49.66}, {'connected_gene': 'NEURL4', 'score': 49.09}, {'connected_gene': 'CHRNB1', 'score': 47.98}, {'connected_gene': 'ENSG00000262089', 'score': 43.42}, {'connected_gene': 'ENSG00000265749', 'score': 42.99}, {'connected_gene': 'EIF4A1', 'score': 42.36}, {'connected_gene': 'KDM6B', 'score': 37.52}, {'connected_gene': 'RPL26', 'score': 33.14}, {'connected_gene': 'NLGN2', 'score': 32.71}, {'connected_gene': 'MIR324', 'score': 31.14}, {'connected_gene': 'PER1', 'score': 29.03}, {'connected_gene': 'CD68', 'score': 26.74}, {'connected_gene': 'FGF11', 'score': 25.73}, {'connected_gene': 'SENP3', 'score': 21.76}, {'connected_gene': 'TP53', 'score': 20.26}, {'connected_gene': 'ACAP1', 'score': 14.21}, {'connected_gene': 'EIF5A', 'score': 12.8}, {'connected_gene': 'TNFSF12', 'score': 12.69}, {'connected_gene': 'TMEM102', 'score': 11.75}, {'connected_gene': 'SPEM2', 'score': 11.55}, {'connected_gene': 'SPEM1', 'score': 11.54}, {'connected_gene': 'MPDU1', 'score': 10.98}, {'connected_gene': 'TMEM256', 'score': 10.98}, {'connected_gene': 'TMEM95', 'score': 10.94}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 10.74}, {'connected_gene': 'ENSG00000224647', 'score': 10.64}, {'connected_gene': 'MIR497HG', 'score': 10.56}, {'connected_gene': 'SLC25A35', 'score': 10.45}, {'connected_gene': 'HES7', 'score': 10.18}, {'connected_gene': 'SCARNA21', 'score': 10.11}, {'connected_gene': 'LOC100996842', 'score': 10.02}, {'connected_gene': 'GPS2', 'score': 10.01}, {'connected_gene': 'ALOX12-AS1', 'score': 9.81}, {'connected_gene': 'CHD3', 'score': 9.59}, {'connected_gene': 'TNK1', 'score': 6.83}, {'connected_gene': 'GABARAP', 'score': 5.15}, {'connected_gene': 'RNASEK', 'score': 4.12}, {'connected_gene': 'SAT2', 'score': 4.0}, {'connected_gene': 'SOX15', 'score': 1.65}, {'connected_gene': 'C17orf49', 'score': 1.61}, {'connected_gene': 'CLEC10A', 'score': 1.25}, {'connected_gene': 'PIR47282', 'score': 0.77}]
chr17 GH17I007644 7644860 7645036 0.44 [{'connected_gene': 'ATP1B2', 'score': 558.32}, {'connected_gene': 'WRAP53', 'score': 25.04}, {'connected_gene': 'SAT2', 'score': 3.62}, {'connected_gene': 'CD68', 'score': 3.23}, {'connected_gene': 'GABARAP', 'score': 1.91}, {'connected_gene': 'POLR2A', 'score': 1.54}, {'connected_gene': 'GC17P007715', 'score': 0.39}]
chr17 GH17I007112 7112054 7113020 1.25 [{'connected_gene': 'ASGR2', 'score': 18.06}, {'connected_gene': 'RPL7AP64', 'score': 5.99}, {'connected_gene': 'ASGR1', 'score': 4.3}, {'connected_gene': 'XAF1', 'score': 4.09}, {'connected_gene': 'SLC13A5', 'score': 2.99}, {'connected_gene': 'CD68', 'score': 2.97}, {'connected_gene': 'GABARAP', 'score': 2.7}, {'connected_gene': 'TNFSF12', 'score': 1.54}, {'connected_gene': 'EIF5A', 'score': 1.51}, {'connected_gene': 'RNASEK', 'score': 1.24}, {'connected_gene': 'POLR2A', 'score': 1.15}, {'connected_gene': 'GC17P007093', 'score': 0.34}, {'connected_gene': 'GC17P007094', 'score': 0.34}, {'connected_gene': 'GC17P007101', 'score': 0.34}, {'connected_gene': 'GC17P007095', 'score': 0.34}, {'connected_gene': 'PIR50426', 'score': 0.34}, {'connected_gene': 'GC17P007092', 'score': 0.34}, {'connected_gene': 'GC17P007091', 'score': 0.34}]
chr17 GH17I007347 7347306 7356331 2.26 [{'connected_gene': 'TMEM95', 'score': 550.77}, {'connected_gene': 'GC17P007353', 'score': 550.77}, {'connected_gene': 'KCTD11', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 25.06}, {'connected_gene': 'ELP5', 'score': 15.45}, {'connected_gene': 'WRAP53', 'score': 11.59}, {'connected_gene': 'LOC100996842', 'score': 11.55}, {'connected_gene': 'PFAS', 'score': 10.74}, {'connected_gene': 'CNTROB', 'score': 9.72}, {'connected_gene': 'CD68', 'score': 6.42}, {'connected_gene': 'TNFSF13', 'score': 5.97}, {'connected_gene': 'NLGN2', 'score': 5.74}, {'connected_gene': 'CHRNB1', 'score': 5.16}, {'connected_gene': 'ACAP1', 'score': 4.91}, {'connected_gene': 'ENSG00000263171', 'score': 0.77}, {'connected_gene': 'GC17P007352', 'score': 0.44}]
chr17 GH17I007833 7833490 7845968 2.75 [{'connected_gene': 'KDM6B', 'score': 607.82}, {'connected_gene': 'DVL2', 'score': 134.07}, {'connected_gene': 'PFAS', 'score': 118.39}, {'connected_gene': 'CTC1', 'score': 98.91}, {'connected_gene': 'WRAP53', 'score': 84.56}, {'connected_gene': 'CNTROB', 'score': 79.82}, {'connected_gene': 'POLR2A', 'score': 71.55}, {'connected_gene': 'SNORD10', 'score': 67.27}, {'connected_gene': 'SNORA48', 'score': 56.96}, {'connected_gene': 'PER1', 'score': 54.84}, {'connected_gene': 'ENSG00000262089', 'score': 51.89}, {'connected_gene': 'ENSG00000265749', 'score': 48.67}, {'connected_gene': 'NLGN2', 'score': 48.64}, {'connected_gene': 'PLSCR3', 'score': 48.19}, {'connected_gene': 'RPL26', 'score': 31.22}, {'connected_gene': 'MIR324', 'score': 30.44}, {'connected_gene': 'EIF4A1', 'score': 29.27}, {'connected_gene': 'KCTD11', 'score': 29.11}, {'connected_gene': 'SLC25A35', 'score': 27.33}, {'connected_gene': 'CYB5D1', 'score': 20.91}, {'connected_gene': 'ZBTB4', 'score': 20.37}, {'connected_gene': 'MIR497HG', 'score': 20.32}, {'connected_gene': 'SENP3', 'score': 19.49}, {'connected_gene': 'NEURL4', 'score': 19.19}, {'connected_gene': 'LOC100996842', 'score': 18.24}, {'connected_gene': 'GPS2', 'score': 15.79}, {'connected_gene': 'ATP1B2', 'score': 14.31}, {'connected_gene': 'CD68', 'score': 14.09}, {'connected_gene': 'DLG4', 'score': 13.31}, {'connected_gene': 'VAMP2', 'score': 13.2}, {'connected_gene': 'TP53', 'score': 11.01}, {'connected_gene': 'SCARNA21', 'score': 10.27}, {'connected_gene': 'HES7', 'score': 10.21}, {'connected_gene': 'CHD3', 'score': 10.09}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NAA38', 'score': 8.35}, {'connected_gene': 'BORCS6', 'score': 5.96}, {'connected_gene': 'ACAP1', 'score': 5.09}, {'connected_gene': 'SAT2', 'score': 2.64}, {'connected_gene': 'TNFSF12', 'score': 2.48}, {'connected_gene': 'GC17P007843', 'score': 0.77}, {'connected_gene': 'LOC105371516', 'score': 0.44}, {'connected_gene': 'DNAH2', 'score': 0.13}]
chr17 GH17I007171 7171601 7175759 1.1 [{'connected_gene': 'DVL2', 'score': 125.47}, {'connected_gene': 'CNTROB', 'score': 55.4}, {'connected_gene': 'CYB5D1', 'score': 47.98}, {'connected_gene': 'NEURL4', 'score': 45.32}, {'connected_gene': 'WRAP53', 'score': 44.41}, {'connected_gene': 'NLGN2', 'score': 40.83}, {'connected_gene': 'LOC100996842', 'score': 35.83}, {'connected_gene': 'SENP3', 'score': 28.43}, {'connected_gene': 'SNORD10', 'score': 26.3}, {'connected_gene': 'ELP5', 'score': 26.24}, {'connected_gene': 'DLG4', 'score': 24.77}, {'connected_gene': 'ATP1B2', 'score': 23.41}, {'connected_gene': 'SNORA48', 'score': 22.56}, {'connected_gene': 'POLR2A', 'score': 22.21}, {'connected_gene': 'MIR324', 'score': 21.07}, {'connected_gene': 'PLSCR3', 'score': 20.49}, {'connected_gene': 'ZBTB4', 'score': 20.13}, {'connected_gene': 'PER1', 'score': 19.96}, {'connected_gene': 'VAMP2', 'score': 13.12}, {'connected_gene': 'SLC16A11', 'score': 12.33}, {'connected_gene': 'KCTD11', 'score': 11.64}, {'connected_gene': 'ACADVL', 'score': 11.5}, {'connected_gene': 'KIAA0753', 'score': 11.4}, {'connected_gene': 'SLC16A13', 'score': 11.32}, {'connected_gene': 'CTDNEP1', 'score': 10.94}, {'connected_gene': 'GABARAP', 'score': 10.72}, {'connected_gene': 'PHF23', 'score': 10.72}, {'connected_gene': 'MIR497HG', 'score': 10.62}, {'connected_gene': 'BCL6B', 'score': 10.17}, {'connected_gene': 'ENSG00000262089', 'score': 9.97}, {'connected_gene': 'ASGR1', 'score': 5.24}, {'connected_gene': 'CD68', 'score': 4.94}, {'connected_gene': 'GC17P007176', 'score': 0.77}, {'connected_gene': 'GC17M007141', 'score': 0.29}]
chr17 GH17I007099 7099125 7099266 0.64 [{'connected_gene': 'SLC16A11', 'score': 11.05}, {'connected_gene': 'GABARAP', 'score': 4.64}, {'connected_gene': 'EIF5A', 'score': 3.48}, {'connected_gene': 'CD68', 'score': 2.57}, {'connected_gene': 'TNFSF12', 'score': 2.52}, {'connected_gene': 'XAF1', 'score': 1.99}, {'connected_gene': 'RNASEK', 'score': 1.8}, {'connected_gene': 'GC17P007093', 'score': 0.44}, {'connected_gene': 'PIR50426', 'score': 0.44}, {'connected_gene': 'GC17P007092', 'score': 0.44}, {'connected_gene': 'GC17P007094', 'score': 0.44}, {'connected_gene': 'GC17P007101', 'score': 0.44}, {'connected_gene': 'GC17P007091', 'score': 0.44}, {'connected_gene': 'GC17P007095', 'score': 0.44}, {'connected_gene': 'ASGR2', 'score': 0.37}]
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 GH17I007130 7130223 7134200 1.63 [{'connected_gene': 'LOC105371512', 'score': 550.77}, {'connected_gene': 'CLEC10A', 'score': 15.47}, {'connected_gene': 'SLC16A11', 'score': 12.71}, {'connected_gene': 'ASGR1', 'score': 11.18}, {'connected_gene': 'BCL6B', 'score': 10.91}, {'connected_gene': 'EIF5A', 'score': 9.21}, {'connected_gene': 'RPL7AP64', 'score': 8.8}, {'connected_gene': 'TRAPPC1', 'score': 4.56}, {'connected_gene': 'CD68', 'score': 4.49}, {'connected_gene': 'GABARAP', 'score': 3.39}, {'connected_gene': 'SAT2', 'score': 2.95}, {'connected_gene': 'TNFSF12', 'score': 2.28}, {'connected_gene': 'XAF1', 'score': 1.96}, {'connected_gene': 'POLR2A', 'score': 1.87}, {'connected_gene': 'RNASEK', 'score': 1.72}, {'connected_gene': 'ACAP1', 'score': 1.35}]
chr17 GH17I007356 7356342 7356491 0.91 [{'connected_gene': 'ENSG00000263171', 'score': 550.77}, {'connected_gene': 'TMEM95', 'score': 550.77}, {'connected_gene': 'CD68', 'score': 6.33}, {'connected_gene': 'GC17P007361', 'score': 0.44}]
chr17 GH17I008038 8038801 8042072 1.49 [{'connected_gene': 'GC17M008522', 'score': 550.77}, {'connected_gene': 'ALOX15B', 'score': 550.77}, {'connected_gene': 'CYB5D1', 'score': 13.43}, {'connected_gene': 'NEURL4', 'score': 12.12}, {'connected_gene': 'SENP3', 'score': 12.05}, {'connected_gene': 'ZBTB4', 'score': 10.95}, {'connected_gene': 'RANGRF', 'score': 9.95}, {'connected_gene': 'NAA38', 'score': 6.11}, {'connected_gene': 'ENSG00000263427', 'score': 5.77}, {'connected_gene': 'CD68', 'score': 4.7}]
chr17 GH17I007656 7656272 7658175 0.57 [{'connected_gene': 'GC17P007727', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 16.46}, {'connected_gene': 'PFAS', 'score': 16.39}, {'connected_gene': 'CYB5D1', 'score': 13.12}, {'connected_gene': 'CNTROB', 'score': 12.65}, {'connected_gene': 'SAT2', 'score': 11.69}, {'connected_gene': 'WRAP53', 'score': 10.37}, {'connected_gene': 'CTC1', 'score': 10.2}, {'connected_gene': 'CD68', 'score': 6.93}, {'connected_gene': 'ATP1B2', 'score': 6.28}, {'connected_gene': 'TNFSF12', 'score': 5.89}, {'connected_gene': 'CHRNB1', 'score': 5.86}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.