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
ENST00000280193 [[177604688, 177605194], [177608340, 177608674], [177608974, 177609081], [177632652, 177632804], [177648931, 177649122], [177650686, 177650900], [177713318, 177713881]] [[177605076, 177605194], [177608340, 177608674], [177608974, 177609081], [177632652, 177632804], [177648931, 177649122], [177650686, 177650900], [177713318, 177713465]]
ENST00000507638 [[177610453, 177610809], [177632652, 177632804], [177648931, 177649122], [177650686, 177650746]] None
NM_005429 [[177604684, 177605194], [177608340, 177608674], [177608974, 177609081], [177632652, 177632804], [177648931, 177649122], [177650686, 177650900], [177713318, 177713899]] [[177605076, 177605194], [177608340, 177608674], [177608974, 177609081], [177632652, 177632804], [177648931, 177649122], [177650686, 177650900], [177713318, 177713465]]
Promoter
Chrom Start End Description
chr4 177713372 177713387 CAGE_peak_14_at_VEGFC_5end
chr4 177713451 177713493 CAGE_peak_7_at_VEGFC_5end
chr4 177713657 177713673 CAGE_peak_5_at_VEGFC_5end
chr4 177713756 177713777 CAGE_peak_4_at_VEGFC_5end
chr4 177713788 177713805 CAGE_peak_6_at_VEGFC_5end
chr4 177713999 177714050 CAGE_peak_2_at_VEGFC_5end
chr4 177714068 177714085 CAGE_peak_1_at_VEGFC_5end
chr4 177714098 177714111 CAGE_peak_3_at_VEGFC_5end
chr4 177714178 177714187 CAGE_peak_9_at_VEGFC_5end
chr4 177714386 177714390 CAGE_peak_10_at_VEGFC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I177023 177023505 177024820 0.31 [{'connected_gene': 'VEGFC', 'score': 11.39}, {'connected_gene': 'GC04P176937', 'score': 0.17}, {'connected_gene': 'RN7SKP136', 'score': 0.1}]
chr4 GH04I176760 176760929 176765399 0.2 [{'connected_gene': 'VEGFC', 'score': 6.27}, {'connected_gene': 'GC04P176765', 'score': 0.77}, {'connected_gene': 'GC04P176682', 'score': 0.18}]
chr4 GH04I176744 176744611 176747170 0.2 [{'connected_gene': 'VEGFC', 'score': 6.67}, {'connected_gene': 'GC04P176765', 'score': 0.37}, {'connected_gene': 'GC04P176682', 'score': 0.21}]
chr4 GH04I176758 176758047 176759740 0.2 [{'connected_gene': 'VEGFC', 'score': 6.55}, {'connected_gene': 'GC04P176765', 'score': 0.44}, {'connected_gene': 'GC04P176682', 'score': 0.18}]
chr4 GH04I176752 176752168 176754712 0.83 [{'connected_gene': 'VEGFC', 'score': 6.24}, {'connected_gene': 'GC04P176765', 'score': 0.39}, {'connected_gene': 'GC04P176682', 'score': 0.19}]
chr4 GH04I176780 176780586 176783757 0.96 [{'connected_gene': 'VEGFC', 'score': 6.36}, {'connected_gene': 'GC04P176765', 'score': 0.37}]
chr4 GH04I176777 176777871 176779977 0.69 [{'connected_gene': 'VEGFC', 'score': 6.37}, {'connected_gene': 'GC04P176765', 'score': 0.39}]
chr4 GH04I176769 176768563 176771205 0.89 [{'connected_gene': 'VEGFC', 'score': 6.3}, {'connected_gene': 'GC04P176765', 'score': 0.77}]
chr4 GH04I176845 176845767 176845916 0.31 [{'connected_gene': 'VEGFC', 'score': 6.42}, {'connected_gene': 'GC04P176872', 'score': 0.31}]
chr4 GH04I176788 176788201 176795909 2.46 [{'connected_gene': 'VEGFC', 'score': 563.63}, {'connected_gene': 'GC04P176765', 'score': 0.31}]
chr4 GH04I176840 176840207 176840356 0.2 [{'connected_gene': 'VEGFC', 'score': 5.51}, {'connected_gene': 'GC04P176872', 'score': 0.29}]
chr4 GH04I176804 176804737 176806044 0.2 [{'connected_gene': 'VEGFC', 'score': 0.39}, {'connected_gene': 'GC04P176872', 'score': 0.2}]
chr4 GH04I176842 176841171 176842302 0.52 [{'connected_gene': 'VEGFC', 'score': 6.63}, {'connected_gene': 'GC04P176872', 'score': 0.29}]
chr4 GH04I176824 176824574 176825334 0.2 [{'connected_gene': 'VEGFC', 'score': 0.29}, {'connected_gene': 'GC04P176872', 'score': 0.25}]
chr4 GH04I176774 176774673 176777122 0.43 [{'connected_gene': 'VEGFC', 'score': 6.8}, {'connected_gene': 'GC04P176765', 'score': 0.39}]
chr4 GH04I176838 176838421 176840060 0.63 [{'connected_gene': 'VEGFC', 'score': 5.27}, {'connected_gene': 'GC04P176872', 'score': 0.29}]
chr4 GH04I176817 176817012 176818074 0.2 [{'connected_gene': 'LINC02509', 'score': 7.6}, {'connected_gene': 'VEGFC', 'score': 0.34}, {'connected_gene': 'GC04P176872', 'score': 0.22}]
chr4 GH04I176814 176814148 176816241 0.38 [{'connected_gene': 'LINC02509', 'score': 7.73}, {'connected_gene': 'VEGFC', 'score': 0.34}, {'connected_gene': 'GC04P176872', 'score': 0.22}]
chr4 GH04I176818 176818146 176819780 0.31 [{'connected_gene': 'LINC02509', 'score': 7.51}, {'connected_gene': 'VEGFC', 'score': 0.31}, {'connected_gene': 'GC04P176872', 'score': 0.23}]
chr4 GH04I176537 176537737 176539158 0.8 [{'connected_gene': 'LOC105377555', 'score': 10.2}, {'connected_gene': 'VEGFC', 'score': 2.68}, {'connected_gene': 'LOC100421630', 'score': 0.16}, {'connected_gene': 'ENSG00000248980', 'score': 0.08}]
chr4 GH04I176728 176728423 176730853 0.2 [{'connected_gene': 'LOC105377555', 'score': 10.78}, {'connected_gene': 'VEGFC', 'score': 7.32}, {'connected_gene': 'GC04P176765', 'score': 0.28}, {'connected_gene': 'GC04P176682', 'score': 0.25}]
chr4 GH04I176742 176742374 176743439 0.2 [{'connected_gene': 'LOC105377555', 'score': 10.93}, {'connected_gene': 'GC04P176765', 'score': 0.34}, {'connected_gene': 'VEGFC', 'score': 0.25}, {'connected_gene': 'GC04P176682', 'score': 0.21}]
chr4 GH04I176726 176726898 176727263 0.63 [{'connected_gene': 'LOC105377555', 'score': 10.48}, {'connected_gene': 'GC04P176765', 'score': 0.28}, {'connected_gene': 'GC04P176682', 'score': 0.26}, {'connected_gene': 'VEGFC', 'score': 0.2}]
chr4 GH04I176708 176708403 176710955 0.31 [{'connected_gene': 'LOC105377555', 'score': 11.26}, {'connected_gene': 'GC04P176682', 'score': 0.31}, {'connected_gene': 'GC04P176765', 'score': 0.22}, {'connected_gene': 'VEGFC', 'score': 0.18}]
chr4 GH04I176713 176713466 176714436 0.31 [{'connected_gene': 'LOC105377555', 'score': 11.17}, {'connected_gene': 'GC04P176682', 'score': 0.29}, {'connected_gene': 'GC04P176765', 'score': 0.23}, {'connected_gene': 'VEGFC', 'score': 0.18}]
chr4 GH04I176749 176749848 176751938 0.2 [{'connected_gene': 'GC04P176765', 'score': 0.39}, {'connected_gene': 'VEGFC', 'score': 0.26}, {'connected_gene': 'GC04P176682', 'score': 0.2}]
chr4 GH04I176732 176732048 176735914 0.43 [{'connected_gene': 'GC04P176765', 'score': 0.29}, {'connected_gene': 'GC04P176682', 'score': 0.23}, {'connected_gene': 'VEGFC', 'score': 0.22}]
chr4 GH04I176767 176767421 176767743 0.4 [{'connected_gene': 'GC04P176765', 'score': 0.77}, {'connected_gene': 'VEGFC', 'score': 0.31}]
chr4 GH04I176768 176767247 176767396 0.58 [{'connected_gene': 'GC04P176765', 'score': 550.77}, {'connected_gene': 'VEGFC', 'score': 0.31}]
chr4 GH04I176841 176840697 176840901 0.2 [{'connected_gene': 'GC04P176872', 'score': 0.29}, {'connected_gene': 'VEGFC', 'score': 0.25}]

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