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
ENST00000356322 [[52516017, 52516505], [52520369, 52520612], [52521260, 52521356], [52521620, 52521747], [52528983, 52529214], [52531494, 52531602]] [[52516389, 52516505], [52520369, 52520612], [52521260, 52521356], [52521620, 52521747], [52528983, 52528998]]
ENST00000270649 [[52516577, 52520612], [52521260, 52521356], [52521620, 52521747], [52528983, 52529214], [52531494, 52531823]] [[52519092, 52520612], [52521260, 52521356], [52521620, 52521747], [52528983, 52528998]]
ENST00000595189 [[52520253, 52520612], [52520828, 52520950], [52521260, 52521356], [52521620, 52521747], [52528983, 52529214], [52531494, 52531590]] [[52520945, 52520950], [52521260, 52521356], [52521620, 52521747], [52528983, 52528998]]
ENST00000597952 [[52521645, 52521747], [52528983, 52529214], [52533108, 52533493]] [[52521645, 52521747], [52528983, 52528998]]
NM_025040 [[52516576, 52520612], [52521260, 52521356], [52521620, 52521747], [52528983, 52529214], [52531494, 52531680]] [[52519092, 52520612], [52521260, 52521356], [52521620, 52521747], [52528983, 52528998]]
Promoter
Chrom Start End Description
chr19 52531585 52531596 CAGE_peak_2_at_ZNF614_5end
chr19 52531600 52531685 CAGE_peak_1_at_ZNF614_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I052047 52047801 52050001 2.01 [{'connected_gene': 'ZNF432', 'score': 566.02}, {'connected_gene': 'ENSG00000275055', 'score': 550.77}, {'connected_gene': 'ZNF841', 'score': 21.03}, {'connected_gene': 'ZNF614', 'score': 0.37}]
chr19 GH19I051545 51545788 51553758 1.74 [{'connected_gene': 'SIGLEC6', 'score': 31.83}, {'connected_gene': 'ZNF175', 'score': 31.47}, {'connected_gene': 'ZNF841', 'score': 18.48}, {'connected_gene': 'ZNF616', 'score': 17.04}, {'connected_gene': 'ZNF836', 'score': 16.95}, {'connected_gene': 'ZNF808', 'score': 16.11}, {'connected_gene': 'SIGLEC14', 'score': 16.06}, {'connected_gene': 'SIGLEC8', 'score': 16.03}, {'connected_gene': 'ZNF350', 'score': 12.25}, {'connected_gene': 'CEACAM18', 'score': 11.79}, {'connected_gene': 'SIGLEC12', 'score': 11.44}, {'connected_gene': 'SIGLEC5', 'score': 11.21}, {'connected_gene': 'RPL7P51', 'score': 11.21}, {'connected_gene': 'CTU1', 'score': 10.89}, {'connected_gene': 'ZNF766', 'score': 10.66}, {'connected_gene': 'MIR125A', 'score': 10.49}, {'connected_gene': 'MIR99B', 'score': 10.49}, {'connected_gene': 'SPACA6', 'score': 10.49}, {'connected_gene': 'MIRLET7E', 'score': 10.49}, {'connected_gene': 'ZNF480', 'score': 10.29}, {'connected_gene': 'ZNF613', 'score': 10.13}, {'connected_gene': 'ZNF577', 'score': 9.91}, {'connected_gene': 'ENSG00000268316', 'score': 9.7}, {'connected_gene': 'CD33', 'score': 1.95}, {'connected_gene': 'SIGLEC7', 'score': 1.76}, {'connected_gene': 'ZNF614', 'score': 1.72}, {'connected_gene': 'ZNF615', 'score': 1.45}, {'connected_gene': 'ZNF649', 'score': 1.36}, {'connected_gene': 'SIGLEC28P', 'score': 0.77}, {'connected_gene': 'SIGLEC29P', 'score': 0.37}]
chr19 GH19I051421 51421308 51422377 1.19 [{'connected_gene': 'ZNF528', 'score': 18.56}, {'connected_gene': 'ZNF175', 'score': 17.27}, {'connected_gene': 'ZNF614', 'score': 15.25}, {'connected_gene': 'ZNF615', 'score': 12.89}, {'connected_gene': 'ENSG00000269483', 'score': 10.76}, {'connected_gene': 'LOC100419835', 'score': 10.53}, {'connected_gene': 'ZNF432', 'score': 9.86}, {'connected_gene': 'ENSG00000268711', 'score': 0.77}, {'connected_gene': 'SIGLEC10', 'score': 0.77}]
chr19 GH19I052026 52026426 52029400 2.06 [{'connected_gene': 'ZNF614', 'score': 564.44}, {'connected_gene': 'ZNF841', 'score': 30.62}, {'connected_gene': 'ZNF613', 'score': 17.55}, {'connected_gene': 'ZNF137P', 'score': 16.94}, {'connected_gene': 'ZNF432', 'score': 15.98}, {'connected_gene': 'ENSG00000269483', 'score': 15.61}, {'connected_gene': 'ENSG00000268970', 'score': 15.33}, {'connected_gene': 'ZNF701', 'score': 15.3}, {'connected_gene': 'ZNF611', 'score': 14.65}, {'connected_gene': 'ZNF528', 'score': 12.42}, {'connected_gene': 'ZNF28', 'score': 12.23}, {'connected_gene': 'ZNF578', 'score': 11.82}, {'connected_gene': 'ZNF816', 'score': 11.78}, {'connected_gene': 'ZNF175', 'score': 11.7}, {'connected_gene': 'ENSG00000269825', 'score': 11.64}, {'connected_gene': 'ZNF836', 'score': 11.5}, {'connected_gene': 'ZNF766', 'score': 11.43}, {'connected_gene': 'ENSG00000268225', 'score': 11.21}, {'connected_gene': 'ZNF577', 'score': 10.98}, {'connected_gene': 'ZNF615', 'score': 10.9}, {'connected_gene': 'ZNF808', 'score': 10.49}, {'connected_gene': 'ZNF880', 'score': 10.44}, {'connected_gene': 'ZNF83', 'score': 10.05}, {'connected_gene': 'ZNF468', 'score': 9.83}]
chr19 GH19I051570 51570445 51574009 2.46 [{'connected_gene': 'ZNF175', 'score': 573.37}, {'connected_gene': 'ZNF766', 'score': 15.11}, {'connected_gene': 'ZNF701', 'score': 14.06}, {'connected_gene': 'ZNF350', 'score': 12.49}, {'connected_gene': 'ZNF616', 'score': 11.92}, {'connected_gene': 'ZNF808', 'score': 11.86}, {'connected_gene': 'ZNF841', 'score': 10.95}, {'connected_gene': 'SIGLEC5', 'score': 10.9}, {'connected_gene': 'SIGLEC14', 'score': 10.9}, {'connected_gene': 'RPL7P51', 'score': 10.89}, {'connected_gene': 'ZNF836', 'score': 10.68}, {'connected_gene': 'CTU1', 'score': 10.67}, {'connected_gene': 'CEACAM18', 'score': 10.35}, {'connected_gene': 'ZNF577', 'score': 10.16}, {'connected_gene': 'SIGLEC8', 'score': 9.98}, {'connected_gene': 'ZNF578', 'score': 9.98}, {'connected_gene': 'ENSG00000268316', 'score': 9.77}, {'connected_gene': 'FPR3', 'score': 9.11}, {'connected_gene': 'ZNF615', 'score': 6.11}, {'connected_gene': 'SIGLEC6', 'score': 5.55}, {'connected_gene': 'ZNF649', 'score': 3.42}, {'connected_gene': 'ZNF614', 'score': 3.16}, {'connected_gene': 'SIGLEC7', 'score': 2.77}, {'connected_gene': 'ZNF613', 'score': 2.55}, {'connected_gene': 'PIR38271', 'score': 0.37}]
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 GH19I052188 52188141 52192495 2.27 [{'connected_gene': 'PPP2R1A', 'score': 559.24}, {'connected_gene': 'ZNF766', 'score': 25.29}, {'connected_gene': 'ZNF175', 'score': 20.2}, {'connected_gene': 'ENSG00000269483', 'score': 15.57}, {'connected_gene': 'ZNF614', 'score': 13.76}, {'connected_gene': 'ZNF415', 'score': 12.74}, {'connected_gene': 'ZNF528', 'score': 12.45}, {'connected_gene': 'ZNF578', 'score': 11.71}, {'connected_gene': 'ENSG00000268225', 'score': 11.22}, {'connected_gene': 'ZNF160', 'score': 11.2}, {'connected_gene': 'ZNF615', 'score': 10.62}, {'connected_gene': 'ZNF616', 'score': 10.35}, {'connected_gene': 'ZNF611', 'score': 10.03}, {'connected_gene': 'ENSG00000269102', 'score': 9.89}, {'connected_gene': 'LOC100419835', 'score': 9.88}, {'connected_gene': 'MIR6801', 'score': 0.29}]
chr19 GH19I051360 51360670 51369216 2.53 [{'connected_gene': 'ETFB', 'score': 555.99}, {'connected_gene': 'ENSG00000268520', 'score': 550.77}, {'connected_gene': 'CLDND2', 'score': 550.77}, {'connected_gene': 'ZNF616', 'score': 36.29}, {'connected_gene': 'POLD1', 'score': 35.07}, {'connected_gene': 'ZNF766', 'score': 32.5}, {'connected_gene': 'ZNF836', 'score': 28.96}, {'connected_gene': 'ZNF841', 'score': 26.45}, {'connected_gene': 'ZNF577', 'score': 24.27}, {'connected_gene': 'ZNF175', 'score': 23.0}, {'connected_gene': 'LOC100419835', 'score': 20.73}, {'connected_gene': 'VSIG10L', 'score': 14.44}, {'connected_gene': 'ZNF614', 'score': 14.04}, {'connected_gene': 'ENSG00000267808', 'score': 13.87}, {'connected_gene': 'ZNF615', 'score': 13.49}, {'connected_gene': 'ZNF350', 'score': 12.23}, {'connected_gene': 'ZNF432', 'score': 11.56}, {'connected_gene': 'CTU1', 'score': 10.91}, {'connected_gene': 'ZNF649', 'score': 10.88}, {'connected_gene': 'SIGLEC6', 'score': 10.74}, {'connected_gene': 'ZNF480', 'score': 10.29}, {'connected_gene': 'SIGLEC8', 'score': 10.21}, {'connected_gene': 'ZNF613', 'score': 10.1}, {'connected_gene': 'SIGLEC5', 'score': 10.02}, {'connected_gene': 'SIGLEC14', 'score': 10.02}, {'connected_gene': 'RPL7P51', 'score': 10.02}, {'connected_gene': 'ENSG00000268316', 'score': 9.69}, {'connected_gene': 'ENSG00000269403', 'score': 0.77}, {'connected_gene': 'ENSG00000267984', 'score': 0.37}]
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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