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
ENST00000485498 [[116956780, 116957042], [116966876, 116967421]] None
ENST00000368576 [[116956780, 116957042], [116966876, 116967097], [116968621, 116968773], [116972734, 116972900], [116973166, 116973355], [116977846, 116978015], [116979965, 116980087], [116981898, 116982009], [116987796, 116988370], [116989728, 116989957]] [[116956994, 116957042], [116966876, 116967097], [116968621, 116968773], [116972734, 116972900], [116973166, 116973355], [116977846, 116978015], [116979965, 116980087], [116981898, 116982009], [116987796, 116988355]]
ENST00000471919 [[116973166, 116973355], [116977846, 116978015], [116979965, 116980087], [116981395, 116981532], [116981898, 116982009], [116987796, 116988075], [116989728, 116989957]] None
ENST00000368573 [[116973166, 116973355], [116979965, 116980087], [116981898, 116982009], [116987796, 116988370], [116989728, 116989957]] [[116973304, 116973355], [116979965, 116980087], [116981898, 116982009], [116987796, 116988355]]
Promoter
Chrom Start End Description
chr6 116989837 116989843 CAGE_peak_2_at_ZUFSP_5end
chr6 116989916 116989979 CAGE_peak_1_at_ZUFSP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I116276 116276400 116281969 2.27 [{'connected_gene': 'TSPYL1', 'score': 561.6}, {'connected_gene': 'ENSG00000240050', 'score': 550.77}, {'connected_gene': 'PIR59102', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 550.31}, {'connected_gene': 'CALHM6', 'score': 16.94}, {'connected_gene': 'TSPYL4', 'score': 13.4}, {'connected_gene': 'CALHM4', 'score': 12.28}, {'connected_gene': 'TRAPPC3L', 'score': 11.41}, {'connected_gene': 'KRT18P22', 'score': 10.64}, {'connected_gene': 'CBX3P9', 'score': 10.64}, {'connected_gene': 'ENSG00000244158', 'score': 10.64}, {'connected_gene': 'ENSG00000234117', 'score': 10.5}, {'connected_gene': 'ZUFSP', 'score': 10.09}, {'connected_gene': 'ENSG00000237021', 'score': 7.73}, {'connected_gene': 'GC06M116283', 'score': 0.77}, {'connected_gene': 'PIR51449', 'score': 0.77}, {'connected_gene': 'GC06M116282', 'score': 0.77}, {'connected_gene': 'GC06P116262', 'score': 0.37}]
chr6 GH06I116456 116456989 116457206 0.43 [{'connected_gene': 'KRT18P22', 'score': 550.77}, {'connected_gene': 'CALHM6', 'score': 36.03}, {'connected_gene': 'DSE', 'score': 3.16}, {'connected_gene': 'ZUFSP', 'score': 2.15}, {'connected_gene': 'CBX3P9', 'score': 0.77}]
chr6 GH06I116461 116461418 116465890 2.17 [{'connected_gene': 'CALHM6', 'score': 591.71}, {'connected_gene': 'ENSG00000244158', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 17.73}, {'connected_gene': 'ENSG00000234117', 'score': 13.13}, {'connected_gene': 'TRAPPC3L', 'score': 10.73}, {'connected_gene': 'RWDD1', 'score': 7.73}, {'connected_gene': 'TSPYL1', 'score': 5.86}, {'connected_gene': 'ZUFSP', 'score': 2.58}]
chr6 GH06I116450 116450801 116451820 1.12 [{'connected_gene': 'CALHM6', 'score': 35.31}, {'connected_gene': 'ENSG00000234117', 'score': 11.48}, {'connected_gene': 'CALHM4', 'score': 11.14}, {'connected_gene': 'RSPH4A', 'score': 8.04}, {'connected_gene': 'DSE', 'score': 5.8}, {'connected_gene': 'ZUFSP', 'score': 2.35}, {'connected_gene': 'CBX3P9', 'score': 0.77}, {'connected_gene': 'PIR34878', 'score': 0.37}]
chr6 GH06I116446 116446123 116448407 1.1 [{'connected_gene': 'CALHM6', 'score': 25.71}, {'connected_gene': 'CALHM4', 'score': 11.83}, {'connected_gene': 'ENSG00000234117', 'score': 11.46}, {'connected_gene': 'DSE', 'score': 7.43}, {'connected_gene': 'ZUFSP', 'score': 2.73}, {'connected_gene': 'CBX3P9', 'score': 0.44}, {'connected_gene': 'PIR34878', 'score': 0.39}]
chr6 GH06I116679 116679966 116683205 2.28 [{'connected_gene': 'KPNA5', 'score': 552.54}, {'connected_gene': 'GC06M116680', 'score': 550.77}, {'connected_gene': 'DSE', 'score': 15.19}, {'connected_gene': 'ENSG00000240050', 'score': 11.07}, {'connected_gene': 'RWDD1', 'score': 6.14}, {'connected_gene': 'ENSG00000237021', 'score': 5.34}, {'connected_gene': 'CALHM6', 'score': 5.12}, {'connected_gene': 'ZUFSP', 'score': 1.96}, {'connected_gene': 'TSPYL1', 'score': 1.61}, {'connected_gene': 'TSPYL4', 'score': 1.49}, {'connected_gene': 'FAM162B', 'score': 0.18}]
chr6 GH06I116615 116615801 116617009 1.93 [{'connected_gene': 'RSPH4A', 'score': 564.85}, {'connected_gene': 'ENSG00000240050', 'score': 24.53}, {'connected_gene': 'DSE', 'score': 12.6}, {'connected_gene': 'CBX3P9', 'score': 10.52}, {'connected_gene': 'RWDD1', 'score': 5.89}, {'connected_gene': 'GC06P116597', 'score': 0.37}, {'connected_gene': 'ZUFSP', 'score': 0.23}]
chr6 GH06I116630 116630856 116632826 0.95 [{'connected_gene': 'RSPH4A', 'score': 14.79}, {'connected_gene': 'TRAPPC3L', 'score': 11.01}, {'connected_gene': 'KPNA5', 'score': 10.62}, {'connected_gene': 'CALHM4', 'score': 10.28}, {'connected_gene': 'GC06P116597', 'score': 0.29}, {'connected_gene': 'ZUFSP', 'score': 0.28}]
chr6 GH06I116384 116384602 116394310 1.61 [{'connected_gene': 'DSE', 'score': 27.88}, {'connected_gene': 'CALHM6', 'score': 24.21}, {'connected_gene': 'CALHM4', 'score': 11.7}, {'connected_gene': 'CBX3P9', 'score': 11.66}, {'connected_gene': 'KRT18P22', 'score': 11.65}, {'connected_gene': 'ENSG00000244158', 'score': 11.64}, {'connected_gene': 'ENSG00000234117', 'score': 11.05}, {'connected_gene': 'TRAPPC3L', 'score': 10.92}, {'connected_gene': 'ENSG00000240050', 'score': 6.28}, {'connected_gene': 'TSPYL1', 'score': 5.83}, {'connected_gene': 'CALHM5', 'score': 4.03}, {'connected_gene': 'ZUFSP', 'score': 2.59}, {'connected_gene': 'PIR33476', 'score': 0.34}, {'connected_gene': 'PIR34878', 'score': 0.25}]
chr6 GH06I116424 116424079 116424322 0.68 [{'connected_gene': 'DSE', 'score': 23.28}, {'connected_gene': 'CALHM6', 'score': 18.16}, {'connected_gene': 'CALHM4', 'score': 11.32}, {'connected_gene': 'CBX3P9', 'score': 10.87}, {'connected_gene': 'KRT18P22', 'score': 10.85}, {'connected_gene': 'ENSG00000244158', 'score': 10.84}, {'connected_gene': 'TRAPPC3L', 'score': 10.48}, {'connected_gene': 'ENSG00000234117', 'score': 10.32}, {'connected_gene': 'ZUFSP', 'score': 2.74}, {'connected_gene': 'PIR34878', 'score': 0.39}, {'connected_gene': 'PIR33476', 'score': 0.22}]
chr6 GH06I116665 116665596 116669407 2.25 [{'connected_gene': 'ZUFSP', 'score': 563.24}, {'connected_gene': 'CALHM5', 'score': 7.39}, {'connected_gene': 'KPNA5', 'score': 6.8}, {'connected_gene': 'RWDD1', 'score': 6.3}, {'connected_gene': 'DSE', 'score': 1.12}, {'connected_gene': 'GC06P116597', 'score': 0.2}]