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
ENST00000467021 [[166825746, 166826956], [166827355, 166827518], [166829422, 166829574], [166831439, 166832453]] None
ENST00000367874 [[166825746, 166826956], [166827355, 166827518], [166829422, 166829574], [166831439, 166831649], [166833060, 166833158], [166838681, 166838747], [166838999, 166839091], [166845396, 166845564]] [[166826803, 166826956], [166827355, 166827518], [166829422, 166829574], [166831439, 166831649], [166833060, 166833158], [166838681, 166838747], [166838999, 166839091], [166845396, 166845470]]
NM_053053 [[166825746, 166826956], [166827355, 166827518], [166829422, 166829574], [166831439, 166831649], [166833060, 166833158], [166838681, 166838747], [166838999, 166839091], [166845396, 166845654]] [[166826803, 166826956], [166827355, 166827518], [166829422, 166829574], [166831439, 166831649], [166833060, 166833158], [166838681, 166838747], [166838999, 166839091], [166845396, 166845470]]
Promoter
Chrom Start End Description
chr1 166845467 166845509 CAGE_peak_1_at_TADA1_5end
chr1 166845515 166845538 CAGE_peak_2_at_TADA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I166904 166904440 166907530 0.59 [{'connected_gene': 'MAEL', 'score': 23.96}, {'connected_gene': 'TADA1', 'score': 11.76}, {'connected_gene': 'LOC105371600', 'score': 11.42}, {'connected_gene': 'DUSP27', 'score': 10.36}, {'connected_gene': 'GPA33', 'score': 10.34}, {'connected_gene': 'ILDR2', 'score': 5.37}, {'connected_gene': 'GC01M166909', 'score': 0.37}, {'connected_gene': 'GC01P166768', 'score': 0.12}]
chr1 GH01I167267 167267601 167268600 1.09 [{'connected_gene': 'POU2F1', 'score': 11.87}, {'connected_gene': 'CREG1', 'score': 10.4}, {'connected_gene': 'TADA1', 'score': 9.81}, {'connected_gene': 'GC01P167371', 'score': 0.15}]
chr1 GH01I167219 167219040 167224496 2.11 [{'connected_gene': 'POU2F1', 'score': 550.77}, {'connected_gene': 'ENSG00000272205', 'score': 550.77}, {'connected_gene': 'LOC284685', 'score': 37.28}, {'connected_gene': 'MPZL1', 'score': 27.89}, {'connected_gene': 'DUTP6', 'score': 21.15}, {'connected_gene': 'TADA1', 'score': 9.75}, {'connected_gene': 'GC01P167371', 'score': 0.11}]
chr1 GH01I167160 167160964 167163761 1.34 [{'connected_gene': 'RPS17P6', 'score': 550.77}, {'connected_gene': 'FAM78B', 'score': 10.48}, {'connected_gene': 'TADA1', 'score': 9.76}, {'connected_gene': 'GC01P167158', 'score': 0.77}, {'connected_gene': 'GPA33', 'score': 0.77}]
chr1 GH01I167116 167116798 167120837 0.6 [{'connected_gene': 'DUSP27', 'score': 16.79}, {'connected_gene': 'GPA33', 'score': 12.22}, {'connected_gene': 'LINC01363', 'score': 11.03}, {'connected_gene': 'LOC105371600', 'score': 10.35}, {'connected_gene': 'TADA1', 'score': 10.2}, {'connected_gene': 'GC01P167158', 'score': 0.28}]
chr1 GH01I166874 166874604 166877001 2.1 [{'connected_gene': 'TADA1', 'score': 561.75}, {'connected_gene': 'MAEL', 'score': 23.17}, {'connected_gene': 'LOC284685', 'score': 17.9}, {'connected_gene': 'MPZL1', 'score': 10.22}, {'connected_gene': 'ILDR2', 'score': 6.14}, {'connected_gene': 'DUTP6', 'score': 0.44}, {'connected_gene': 'GC01P166768', 'score': 0.14}]
chr1 GH01I166901 166901104 166901253 0.2 [{'connected_gene': 'TADA1', 'score': 12.87}, {'connected_gene': 'LOC105371600', 'score': 10.82}, {'connected_gene': 'DUSP27', 'score': 9.99}, {'connected_gene': 'GPA33', 'score': 9.97}, {'connected_gene': 'GC01M166909', 'score': 0.34}, {'connected_gene': 'ILDR2', 'score': 0.17}, {'connected_gene': 'GC01P166768', 'score': 0.12}]
chr1 GH01I166902 166902200 166902613 0.66 [{'connected_gene': 'TADA1', 'score': 12.84}, {'connected_gene': 'LOC105371600', 'score': 10.82}, {'connected_gene': 'DUSP27', 'score': 9.99}, {'connected_gene': 'GPA33', 'score': 9.97}, {'connected_gene': 'GC01M166909', 'score': 0.37}, {'connected_gene': 'ILDR2', 'score': 0.17}, {'connected_gene': 'GC01P166768', 'score': 0.12}]
chr1 GH01I166910 166910504 166910673 0.91 [{'connected_gene': 'LOC105371600', 'score': 11.24}, {'connected_gene': 'TADA1', 'score': 11.22}, {'connected_gene': 'DUSP27', 'score': 9.62}, {'connected_gene': 'GPA33', 'score': 9.6}, {'connected_gene': 'GC01M166909', 'score': 0.39}, {'connected_gene': 'ILDR2', 'score': 0.18}, {'connected_gene': 'GC01P166768', 'score': 0.11}]
chr1 GH01I167059 167059001 167059873 1.23 [{'connected_gene': 'GPA33', 'score': 18.2}, {'connected_gene': 'TADA1', 'score': 10.72}, {'connected_gene': 'DUSP27', 'score': 10.49}, {'connected_gene': 'LOC105371600', 'score': 0.44}, {'connected_gene': 'LOC105371598', 'score': 0.31}]
chr1 GH01I166858 166858852 166859226 0.5 [{'connected_gene': 'DUTP6', 'score': 29.04}, {'connected_gene': 'POU2F1', 'score': 2.23}, {'connected_gene': 'POGK', 'score': 1.61}, {'connected_gene': 'TADA1', 'score': 0.37}, {'connected_gene': 'GC01P166768', 'score': 0.16}]
chr1 GH01I167713 167713201 167717399 1.84 [{'connected_gene': 'TRP-CGG1-1', 'score': 550.77}, {'connected_gene': 'GC01M167716', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-1', 'score': 550.77}, {'connected_gene': 'POU2F1', 'score': 40.15}, {'connected_gene': 'TADA1', 'score': 30.26}, {'connected_gene': 'MPZL1', 'score': 22.24}, {'connected_gene': 'DUTP6', 'score': 13.07}, {'connected_gene': 'CREG1', 'score': 1.57}]
chr1 GH01I166920 166920352 166921533 0.31 [{'connected_gene': 'GC01M166909', 'score': 550.77}, {'connected_gene': 'LOC105371600', 'score': 11.06}, {'connected_gene': 'GPA33', 'score': 9.7}, {'connected_gene': 'TADA1', 'score': 0.26}, {'connected_gene': 'ILDR2', 'score': 0.2}, {'connected_gene': 'GC01P166768', 'score': 0.1}]