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
ENST00000321287 [[52839497, 52839759], [52850959, 52851084], [52852406, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870375]] [[52852425, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870020]]
ENST00000599508 [[52839556, 52839759], [52850959, 52851302]] None
ENST00000403906 [[52839560, 52839759], [52850959, 52851197], [52852406, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870366]] [[52852425, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870020]]
ENST00000601151 [[52839564, 52839759], [52850959, 52851197], [52852406, 52852488], [52856934, 52857061], [52868950, 52871031]] [[52852425, 52852488], [52856934, 52857061], [52868950, 52870020]]
ENST00000594919 [[52839614, 52839759], [52850345, 52850508], [52850959, 52851465]] None
ENST00000593698 [[52847330, 52847399], [52850959, 52851197], [52852406, 52852488], [52856934, 52857061], [52857503, 52857568]] [[52852425, 52852488], [52856934, 52857061], [52857503, 52857568]]
ENST00000327920 [[52848681, 52848799], [52850959, 52851197], [52852406, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870111]] [[52852425, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870020]]
NM_001161426 [[52839497, 52839759], [52850959, 52851084], [52852406, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870376]] [[52852425, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870020]]
NM_001161427 [[52839497, 52839759], [52850959, 52851197], [52852406, 52852488], [52856934, 52857061], [52868950, 52870376]] [[52852425, 52852488], [52856934, 52857061], [52868950, 52870020]]
NM_001161425 [[52839497, 52839759], [52850959, 52851197], [52852406, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870376]] [[52852425, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870020]]
NM_173530 [[52848681, 52848799], [52850959, 52851197], [52852406, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870376]] [[52852425, 52852488], [52856934, 52857061], [52857503, 52857632], [52868950, 52870020]]
Promoter
Chrom Start End Description
chr19 52839490 52839508 CAGE_peak_2_at_ZNF610_5end
chr19 52839515 52839572 CAGE_peak_1_at_ZNF610_5end
chr19 52848659 52848697 CAGE_peak_4_at_ZNF610_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I052137 52137975 52141288 2.28 [{'connected_gene': 'ZNF616', 'score': 585.45}, {'connected_gene': 'ZNF137P', 'score': 55.42}, {'connected_gene': 'ZNF160', 'score': 51.4}, {'connected_gene': 'ZNF808', 'score': 48.96}, {'connected_gene': 'ENSG00000268970', 'score': 44.85}, {'connected_gene': 'ZNF600', 'score': 43.55}, {'connected_gene': 'ZNF350', 'score': 40.57}, {'connected_gene': 'ZNF816', 'score': 40.28}, {'connected_gene': 'ZNF836', 'score': 39.12}, {'connected_gene': 'ZNF577', 'score': 38.22}, {'connected_gene': 'ZNF841', 'score': 37.31}, {'connected_gene': 'ZNF468', 'score': 36.86}, {'connected_gene': 'ZNF766', 'score': 36.36}, {'connected_gene': 'ZNF613', 'score': 33.56}, {'connected_gene': 'ZNF28', 'score': 31.19}, {'connected_gene': 'ENSG00000269825', 'score': 28.24}, {'connected_gene': 'ZNF175', 'score': 24.3}, {'connected_gene': 'ZNF578', 'score': 23.1}, {'connected_gene': 'ENSG00000268316', 'score': 22.87}, {'connected_gene': 'ZNF611', 'score': 20.66}, {'connected_gene': 'SIGLEC17P', 'score': 20.58}, {'connected_gene': 'ENSG00000269535', 'score': 20.37}, {'connected_gene': 'ZNF432', 'score': 12.35}, {'connected_gene': 'SPACA6P-AS', 'score': 11.38}, {'connected_gene': 'ZNF888', 'score': 9.99}, {'connected_gene': 'ZNF649', 'score': 6.35}, {'connected_gene': 'ZNF610', 'score': 2.74}, {'connected_gene': 'ZNF528', 'score': 1.29}, {'connected_gene': 'ENSG00000270248', 'score': 0.31}, {'connected_gene': 'ENSG00000267827', 'score': 0.29}]
chr19 GH19I052733 52733800 52736685 2.23 [{'connected_gene': 'ZNF611', 'score': 573.44}, {'connected_gene': 'ZNF701', 'score': 30.16}, {'connected_gene': 'ZNF137P', 'score': 26.54}, {'connected_gene': 'ENSG00000268970', 'score': 26.33}, {'connected_gene': 'ENSG00000269001', 'score': 24.35}, {'connected_gene': 'ZNF845', 'score': 23.05}, {'connected_gene': 'ZNF808', 'score': 22.73}, {'connected_gene': 'ZNF160', 'score': 21.7}, {'connected_gene': 'ZNF525', 'score': 21.45}, {'connected_gene': 'ZNF816', 'score': 21.27}, {'connected_gene': 'TPM3P6', 'score': 20.92}, {'connected_gene': 'ZNF836', 'score': 20.7}, {'connected_gene': 'ZNF766', 'score': 20.57}, {'connected_gene': 'ENSG00000269825', 'score': 19.93}, {'connected_gene': 'ZNF841', 'score': 19.7}, {'connected_gene': 'ZNF468', 'score': 19.21}, {'connected_gene': 'ZNF613', 'score': 17.43}, {'connected_gene': 'ZNF600', 'score': 14.81}, {'connected_gene': 'TPM3P9', 'score': 13.34}, {'connected_gene': 'ZNF665', 'score': 12.89}, {'connected_gene': 'ZNF28', 'score': 12.33}, {'connected_gene': 'ZNF578', 'score': 11.84}, {'connected_gene': 'ZNF761', 'score': 11.0}, {'connected_gene': 'ZNF577', 'score': 10.89}, {'connected_gene': 'ZNF880', 'score': 10.44}, {'connected_gene': 'ZNF83', 'score': 10.33}, {'connected_gene': 'ENSG00000268316', 'score': 10.14}, {'connected_gene': 'ENSG00000269535', 'score': 9.74}, {'connected_gene': 'ZNF415', 'score': 5.84}, {'connected_gene': 'ZNF610', 'score': 2.74}, {'connected_gene': 'ZNF528', 'score': 1.55}, {'connected_gene': 'LOC105372452', 'score': 0.44}]
chr19 GH19I051687 51687021 51693960 2.13 [{'connected_gene': 'ZNF137P', 'score': 107.16}, {'connected_gene': 'ZNF808', 'score': 106.79}, {'connected_gene': 'ZNF841', 'score': 101.0}, {'connected_gene': 'ZNF616', 'score': 97.72}, {'connected_gene': 'ZNF766', 'score': 85.53}, {'connected_gene': 'ZNF577', 'score': 81.85}, {'connected_gene': 'ENSG00000268970', 'score': 76.41}, {'connected_gene': 'ZNF836', 'score': 76.27}, {'connected_gene': 'ENSG00000269825', 'score': 75.92}, {'connected_gene': 'ZNF175', 'score': 72.26}, {'connected_gene': 'ZNF350', 'score': 50.77}, {'connected_gene': 'ZNF528', 'score': 45.92}, {'connected_gene': 'ZNF480', 'score': 43.75}, {'connected_gene': 'ENSG00000269535', 'score': 40.63}, {'connected_gene': 'ZNF432', 'score': 40.54}, {'connected_gene': 'LOC100419835', 'score': 39.93}, {'connected_gene': 'SIGLEC17P', 'score': 34.1}, {'connected_gene': 'ZNF613', 'score': 31.2}, {'connected_gene': 'ENSG00000268316', 'score': 30.81}, {'connected_gene': 'ZNF614', 'score': 27.48}, {'connected_gene': 'ZNF578', 'score': 23.07}, {'connected_gene': 'ENSG00000267808', 'score': 22.45}, {'connected_gene': 'SPACA6', 'score': 21.02}, {'connected_gene': 'ZNF528-AS1', 'score': 19.88}, {'connected_gene': 'ZNF649', 'score': 19.87}, {'connected_gene': 'ZNF610', 'score': 19.36}, {'connected_gene': 'ZNF615', 'score': 18.38}, {'connected_gene': 'SIGLEC14', 'score': 16.09}, {'connected_gene': 'SIGLEC6', 'score': 15.7}, {'connected_gene': 'ENSG00000269483', 'score': 12.57}, {'connected_gene': 'CTU1', 'score': 10.87}, {'connected_gene': 'SHANK1', 'score': 10.65}, {'connected_gene': 'FPR3', 'score': 10.42}, {'connected_gene': 'SIGLEC5', 'score': 10.4}, {'connected_gene': 'RPL7P51', 'score': 10.4}, {'connected_gene': 'ENSG00000269102', 'score': 9.72}, {'connected_gene': 'HAS1', 'score': 9.13}, {'connected_gene': 'FPR2', 'score': 8.31}, {'connected_gene': 'FPR1', 'score': 7.39}, {'connected_gene': 'SIGLEC8', 'score': 7.27}, {'connected_gene': 'SPACA6P-AS', 'score': 7.1}, {'connected_gene': 'IGLON5', 'score': 4.95}, {'connected_gene': 'SIGLEC10', 'score': 2.65}, {'connected_gene': 'SIGLECL1', 'score': 1.61}, {'connected_gene': 'CLDND2', 'score': 1.13}, {'connected_gene': 'GC19P051725', 'score': 0.77}, {'connected_gene': 'MIR99B', 'score': 0.77}, {'connected_gene': 'GC19P051722', 'score': 0.77}, {'connected_gene': 'GC19P051724', 'score': 0.77}, {'connected_gene': 'MIR125A', 'score': 0.77}, {'connected_gene': 'GC19P051723', 'score': 0.77}, {'connected_gene': 'MIRLET7E', 'score': 0.77}, {'connected_gene': 'GC19P051649', 'score': 0.26}]
chr19 GH19I052335 52335648 52337429 1.78 [{'connected_gene': 'ZNF610', 'score': 550.77}, {'connected_gene': 'ZNF480', 'score': 11.08}, {'connected_gene': 'ZNF528', 'score': 5.15}, {'connected_gene': 'ENSG00000269535', 'score': 0.44}]
chr19 GH19I052314 52314448 52314507 0.5 [{'connected_gene': 'ZNF480', 'score': 550.37}, {'connected_gene': 'ZNF610', 'score': 0.37}, {'connected_gene': 'ENSG00000269102', 'score': 0.37}, {'connected_gene': 'ENSG00000269535', 'score': 0.29}]
chr19 GH19I052338 52338250 52340189 0.31 [{'connected_gene': 'ZNF480', 'score': 9.5}, {'connected_gene': 'ZNF610', 'score': 0.44}, {'connected_gene': 'ENSG00000269535', 'score': 0.44}]
chr19 GH19I052300 52300288 52300347 0.5 [{'connected_gene': 'ZNF480', 'score': 550.77}, {'connected_gene': 'ENSG00000269102', 'score': 0.77}, {'connected_gene': 'ZNF610', 'score': 0.29}]
chr19 GH19I051847 51847617 51848068 0.23 [{'connected_gene': 'LOC105369197', 'score': 550.77}, {'connected_gene': 'CLDND2', 'score': 32.34}, {'connected_gene': 'ZNF610', 'score': 25.66}, {'connected_gene': 'C19orf84', 'score': 22.22}, {'connected_gene': 'ENSG00000269483', 'score': 6.61}, {'connected_gene': 'ZNF616', 'score': 6.52}, {'connected_gene': 'SIGLEC14', 'score': 1.41}, {'connected_gene': 'VN1R98P', 'score': 0.44}, {'connected_gene': 'ZNF577', 'score': 0.26}]
chr19 GH19I052351 52351648 52351797 0.38 [{'connected_gene': 'ENSG00000269535', 'score': 0.44}, {'connected_gene': 'ZNF880', 'score': 0.37}, {'connected_gene': 'ZNF610', 'score': 0.37}]
chr19 GH19I052345 52345380 52345439 0.82 [{'connected_gene': 'ENSG00000269535', 'score': 550.77}, {'connected_gene': 'ZNF610', 'score': 550.39}, {'connected_gene': 'ZNF83', 'score': 4.83}, {'connected_gene': 'ZNF880', 'score': 0.34}]
chr19 GH19I052344 52344186 52344245 0.61 [{'connected_gene': 'ENSG00000269535', 'score': 550.77}, {'connected_gene': 'ZNF610', 'score': 550.39}, {'connected_gene': 'ZNF528-AS1', 'score': 5.25}]
chr19 GH19I052343 52343648 52343797 0.62 [{'connected_gene': 'ENSG00000269535', 'score': 550.77}, {'connected_gene': 'ZNF610', 'score': 0.39}]
chr19 GH19I052230 52230438 52231513 0.57 [{'connected_gene': 'ENSG00000268015', 'score': 556.98}, {'connected_gene': 'LOC105372449', 'score': 550.77}, {'connected_gene': 'ZNF610', 'score': 23.72}, {'connected_gene': 'FPR3', 'score': 9.47}, {'connected_gene': 'PPP2R1A', 'score': 5.82}]
chr19 GH19I051393 51393637 51396457 1.89 [{'connected_gene': 'ENSG00000268889', 'score': 550.77}, {'connected_gene': 'LOC105372446', 'score': 550.77}, {'connected_gene': 'ZNF841', 'score': 93.13}, {'connected_gene': 'ZNF766', 'score': 91.68}, {'connected_gene': 'ZNF577', 'score': 88.91}, {'connected_gene': 'ZNF616', 'score': 81.03}, {'connected_gene': 'ZNF175', 'score': 78.22}, {'connected_gene': 'ZNF836', 'score': 74.83}, {'connected_gene': 'ZNF432', 'score': 58.11}, {'connected_gene': 'ZNF614', 'score': 47.68}, {'connected_gene': 'SPACA6P-AS', 'score': 42.37}, {'connected_gene': 'ZNF610', 'score': 39.17}, {'connected_gene': 'ZNF613', 'score': 38.03}, {'connected_gene': 'ENSG00000267808', 'score': 31.96}, {'connected_gene': 'ZNF615', 'score': 30.73}, {'connected_gene': 'CTU1', 'score': 25.82}, {'connected_gene': 'LOC100419835', 'score': 25.37}, {'connected_gene': 'SIGLEC17P', 'score': 22.07}, {'connected_gene': 'SPACA6', 'score': 21.71}, {'connected_gene': 'C19orf84', 'score': 20.56}, {'connected_gene': 'ZNF880', 'score': 19.25}, {'connected_gene': 'ENSG00000268015', 'score': 19.15}, {'connected_gene': 'ENSG00000269535', 'score': 18.82}, {'connected_gene': 'ENSG00000268316', 'score': 18.77}, {'connected_gene': 'ENSG00000269102', 'score': 17.98}, {'connected_gene': 'CLEC11A', 'score': 10.63}, {'connected_gene': 'ZNF480', 'score': 10.09}, {'connected_gene': 'ENSG00000269483', 'score': 9.75}, {'connected_gene': 'SIGLEC14', 'score': 7.55}, {'connected_gene': 'HAS1', 'score': 5.32}, {'connected_gene': 'FPR1', 'score': 4.51}, {'connected_gene': 'SIGLEC9', 'score': 4.28}, {'connected_gene': 'FPR2', 'score': 3.78}, {'connected_gene': 'SIGLEC10', 'score': 3.16}, {'connected_gene': 'FPR3', 'score': 2.05}, {'connected_gene': 'CD33', 'score': 1.38}, {'connected_gene': 'NIFKP6', 'score': 0.44}]

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