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
ENST00000295927 [[157154577, 157154852], [157155301, 157155703], [157160154, 157161417]] [[157154722, 157154852], [157155301, 157155703], [157160154, 157160768]]
NM_002852 [[157154579, 157154852], [157155301, 157155703], [157160154, 157161417]] [[157154722, 157154852], [157155301, 157155703], [157160154, 157160768]]
Promoter
Chrom Start End Description
chr3 157154631 157154645 CAGE_peak_1_at_PTX3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I157416 157416815 157418251 0.46 [{'connected_gene': 'VEPH1', 'score': 11.14}, {'connected_gene': 'PTX3', 'score': 0.37}, {'connected_gene': 'LOC105374179', 'score': 0.1}]
chr3 GH03I157459 157459726 157461568 0.69 [{'connected_gene': 'VEPH1', 'score': 8.14}, {'connected_gene': 'PTX3', 'score': 0.34}]
chr3 GH03I157493 157493732 157493881 0.63 [{'connected_gene': 'VEPH1', 'score': 0.28}, {'connected_gene': 'PTX3', 'score': 0.22}]
chr3 GH03I157446 157446000 157447400 0.66 [{'connected_gene': 'VEPH1', 'score': 4.46}, {'connected_gene': 'PTX3', 'score': 0.44}]
chr3 GH03I157503 157502000 157502141 0.2 [{'connected_gene': 'VEPH1', 'score': 0.29}, {'connected_gene': 'PTX3', 'score': 0.2}]
chr3 GH03I157463 157463767 157465001 0.2 [{'connected_gene': 'VEPH1', 'score': 13.66}, {'connected_gene': 'PTX3', 'score': 0.31}]
chr3 GH03I157475 157475641 157476836 1.08 [{'connected_gene': 'VEPH1', 'score': 11.4}, {'connected_gene': 'PTX3', 'score': 0.28}]
chr3 GH03I157498 157498973 157500481 1.87 [{'connected_gene': 'VEPH1', 'score': 550.29}, {'connected_gene': 'CCNL1', 'score': 15.79}, {'connected_gene': 'PTX3', 'score': 0.21}]
chr3 GH03I157502 157502980 157504738 0.93 [{'connected_gene': 'VEPH1', 'score': 567.21}, {'connected_gene': 'PQLC2L', 'score': 11.17}, {'connected_gene': 'PTX3', 'score': 0.2}]
chr3 GH03I157495 157495514 157495573 0.5 [{'connected_gene': 'VEPH1', 'score': 561.3}, {'connected_gene': 'PQLC2L', 'score': 10.75}, {'connected_gene': 'PTX3', 'score': 0.22}]
chr3 GH03I157526 157526923 157529283 0.96 [{'connected_gene': 'VEPH1', 'score': 17.59}, {'connected_gene': 'PQLC2L', 'score': 6.55}, {'connected_gene': 'PTX3', 'score': 0.16}]
chr3 GH03I157530 157530114 157534446 1.45 [{'connected_gene': 'VEPH1', 'score': 569.73}, {'connected_gene': 'PQLC2L', 'score': 14.83}, {'connected_gene': 'PTX3', 'score': 0.15}]
chr3 GH03I157496 157496668 157496727 0.5 [{'connected_gene': 'VEPH1', 'score': 561.3}, {'connected_gene': 'PQLC2L', 'score': 10.75}, {'connected_gene': 'PTX3', 'score': 0.22}]
chr3 GH03I157428 157428801 157429000 0.52 [{'connected_gene': 'PTX3', 'score': 0.44}, {'connected_gene': 'VEPH1', 'score': 0.15}, {'connected_gene': 'LOC105374179', 'score': 0.09}]
chr3 GH03I157444 157444063 157444761 0.58 [{'connected_gene': 'PTX3', 'score': 0.44}, {'connected_gene': 'VEPH1', 'score': 0.17}]
chr3 GH03I157442 157442912 157442992 0.57 [{'connected_gene': 'PTX3', 'score': 0.44}, {'connected_gene': 'VEPH1', 'score': 0.16}]
chr3 GH03I157447 157444872 157445021 0.2 [{'connected_gene': 'PTX3', 'score': 0.44}, {'connected_gene': 'VEPH1', 'score': 0.17}]
chr3 GH03I157467 157467200 157467800 0.31 [{'connected_gene': 'PTX3', 'score': 0.29}, {'connected_gene': 'VEPH1', 'score': 0.2}]
chr3 GH03I157445 157445401 157445601 0.2 [{'connected_gene': 'PTX3', 'score': 0.44}, {'connected_gene': 'VEPH1', 'score': 0.17}]
chr3 GH03I157436 157436152 157439839 1.91 [{'connected_gene': 'PTX3', 'score': 550.77}, {'connected_gene': 'KRT18P34', 'score': 6.06}, {'connected_gene': 'VEPH1', 'score': 0.15}]
chr3 GH03I157429 157429811 157430124 0.25 [{'connected_gene': 'CCNL1', 'score': 4.1}, {'connected_gene': 'PTX3', 'score': 2.44}, {'connected_gene': 'VEPH1', 'score': 0.15}, {'connected_gene': 'LOC105374179', 'score': 0.09}]
chr3 GH03I157358 157358549 157361160 0.68 [{'connected_gene': 'KRT18P34', 'score': 16.74}, {'connected_gene': 'PTX3', 'score': 11.41}, {'connected_gene': 'VEPH1', 'score': 11.32}, {'connected_gene': 'ENSG00000243176', 'score': 4.97}, {'connected_gene': 'LOC105374179', 'score': 0.13}, {'connected_gene': 'LOC101928236', 'score': 0.08}]
chr3 GH03I157347 157347912 157348041 0.46 [{'connected_gene': 'KRT18P34', 'score': 15.33}, {'connected_gene': 'PTX3', 'score': 0.17}, {'connected_gene': 'LOC105374179', 'score': 0.14}, {'connected_gene': 'ENSG00000243176', 'score': 0.09}, {'connected_gene': 'LOC101928236', 'score': 0.09}, {'connected_gene': 'VEPH1', 'score': 0.09}]
chr3 GH03I157297 157297479 157299114 0.38 [{'connected_gene': 'KRT18P34', 'score': 27.7}, {'connected_gene': 'ENSG00000243176', 'score': 7.11}, {'connected_gene': 'LOC105374179', 'score': 0.22}, {'connected_gene': 'PTX3', 'score': 0.12}, {'connected_gene': 'LOC101928236', 'score': 0.12}, {'connected_gene': 'VEPH1', 'score': 0.07}]
chr3 GH03I157333 157333171 157336901 1.04 [{'connected_gene': 'KRT18P34', 'score': 17.06}, {'connected_gene': 'ENSG00000243176', 'score': 7.08}, {'connected_gene': 'LOC105374179', 'score': 0.16}, {'connected_gene': 'PTX3', 'score': 0.15}, {'connected_gene': 'LOC101928236', 'score': 0.09}, {'connected_gene': 'VEPH1', 'score': 0.08}]
chr3 GH03I157274 157274352 157275411 0.9 [{'connected_gene': 'KRT18P34', 'score': 28.59}, {'connected_gene': 'LOC105374179', 'score': 0.29}, {'connected_gene': 'ENSG00000243176', 'score': 0.15}, {'connected_gene': 'LOC101928236', 'score': 0.14}, {'connected_gene': 'PTX3', 'score': 0.1}, {'connected_gene': 'VEPH1', 'score': 0.07}]
chr3 GH03I157262 157262543 157264046 0.58 [{'connected_gene': 'KRT18P34', 'score': 18.03}, {'connected_gene': 'LOC105374179', 'score': 0.34}, {'connected_gene': 'ENSG00000243176', 'score': 0.17}, {'connected_gene': 'LOC101928236', 'score': 0.15}, {'connected_gene': 'PTX3', 'score': 0.09}, {'connected_gene': 'VEPH1', 'score': 0.06}]
chr3 GH03I157293 157293438 157297043 0.54 [{'connected_gene': 'KRT18P34', 'score': 27.92}, {'connected_gene': 'LOC105374179', 'score': 0.23}, {'connected_gene': 'ENSG00000243176', 'score': 0.13}, {'connected_gene': 'LOC101928236', 'score': 0.12}, {'connected_gene': 'PTX3', 'score': 0.11}, {'connected_gene': 'VEPH1', 'score': 0.07}]
chr3 GH03I157299 157299446 157301445 0.83 [{'connected_gene': 'KRT18P34', 'score': 29.82}, {'connected_gene': 'LOC105374179', 'score': 0.22}, {'connected_gene': 'ENSG00000243176', 'score': 0.13}, {'connected_gene': 'LOC101928236', 'score': 0.12}, {'connected_gene': 'PTX3', 'score': 0.12}, {'connected_gene': 'VEPH1', 'score': 0.07}]
chr3 GH03I157247 157247600 157249474 1.17 [{'connected_gene': 'KRT18P34', 'score': 18.05}, {'connected_gene': 'LOC105374179', 'score': 0.44}, {'connected_gene': 'ENSG00000243176', 'score': 0.19}, {'connected_gene': 'LOC101928236', 'score': 0.18}, {'connected_gene': 'PTX3', 'score': 0.09}]
chr3 GH03I157310 157310833 157312782 0.83 [{'connected_gene': 'KRT18P34', 'score': 27.89}, {'connected_gene': 'LINC02029', 'score': 4.57}, {'connected_gene': 'LOC105374179', 'score': 0.2}, {'connected_gene': 'PTX3', 'score': 0.13}, {'connected_gene': 'ENSG00000243176', 'score': 0.12}, {'connected_gene': 'LOC101928236', 'score': 0.11}, {'connected_gene': 'VEPH1', 'score': 0.07}]
chr3 GH03I157290 157290829 157291103 0.97 [{'connected_gene': 'LOC105374179', 'score': 0.25}, {'connected_gene': 'LOC101928236', 'score': 0.13}, {'connected_gene': 'ENSG00000243176', 'score': 0.13}, {'connected_gene': 'PTX3', 'score': 0.11}, {'connected_gene': 'VEPH1', 'score': 0.07}]
chr3 GH03I157248 157247201 157247401 0.4 [{'connected_gene': 'LOC105374179', 'score': 0.44}, {'connected_gene': 'ENSG00000243176', 'score': 0.19}, {'connected_gene': 'LOC101928236', 'score': 0.18}, {'connected_gene': 'PTX3', 'score': 0.09}]
chr3 GH03I157066 157066198 157068025 1.26 [{'connected_gene': 'TIPARP-AS1', 'score': 10.54}, {'connected_gene': 'TIPARP', 'score': 10.54}, {'connected_gene': 'LINC00886', 'score': 9.09}, {'connected_gene': 'PQLC2L', 'score': 4.16}, {'connected_gene': 'PTX3', 'score': 1.6}, {'connected_gene': 'LINC02029', 'score': 0.39}, {'connected_gene': 'RN7SKP177', 'score': 0.25}]
chr3 GH03I157281 157281863 157284124 0.97 [{'connected_gene': 'ENSG00000243176', 'score': 7.13}, {'connected_gene': 'KRT18P34', 'score': 6.79}, {'connected_gene': 'LOC105374179', 'score': 0.26}, {'connected_gene': 'LOC101928236', 'score': 0.13}, {'connected_gene': 'PTX3', 'score': 0.1}, {'connected_gene': 'VEPH1', 'score': 0.07}]