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
ENST00000377893 [[6307405, 6310063], [6310499, 6310684], [6311397, 6311590], [6313777, 6314207], [6314609, 6315074], [6320884, 6321035]] [[6309397, 6310063], [6310499, 6310684], [6311397, 6311590], [6313777, 6314207], [6314609, 6314965]]
NM_207370 [[6307405, 6310063], [6310499, 6310684], [6311397, 6311590], [6313777, 6314207], [6314609, 6315074], [6320884, 6321035]] [[6309397, 6310063], [6310499, 6310684], [6311397, 6311590], [6313777, 6314207], [6314609, 6314965]]
Promoter
Chrom Start End Description
chr1 6321055 6321069 CAGE_peak_2_at_GPR153_5end
chr1 6321111 6321174 CAGE_peak_1_at_GPR153_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I006293 6293628 6295795 0.99 [{'connected_gene': 'ESPN', 'score': 17.97}, {'connected_gene': 'THAP3', 'score': 14.88}, {'connected_gene': 'NOL9', 'score': 12.33}, {'connected_gene': 'LINC00337', 'score': 11.71}, {'connected_gene': 'ICMT', 'score': 11.71}, {'connected_gene': 'NPHP4', 'score': 9.9}, {'connected_gene': 'ZBTB48', 'score': 3.67}, {'connected_gene': 'GPR153', 'score': 2.23}, {'connected_gene': 'ACOT7', 'score': 1.52}, {'connected_gene': 'GC01P006262', 'score': 0.29}, {'connected_gene': 'ENSG00000271746', 'score': 0.15}]
chr1 GH01I006315 6315941 6317745 0.95 [{'connected_gene': 'ESPN', 'score': 15.32}, {'connected_gene': 'CHD5', 'score': 10.53}, {'connected_gene': 'GPR153', 'score': 6.34}, {'connected_gene': 'GC01P006262', 'score': 0.22}, {'connected_gene': 'ENSG00000271746', 'score': 0.18}, {'connected_gene': 'ACOT7', 'score': 0.18}]
chr1 GH01I006275 6275547 6277685 1.35 [{'connected_gene': 'ESPN', 'score': 12.58}, {'connected_gene': 'RNF207', 'score': 11.04}, {'connected_gene': 'GPR153', 'score': 2.04}, {'connected_gene': 'ZBTB48', 'score': 1.93}, {'connected_gene': 'PHF13', 'score': 1.38}, {'connected_gene': 'ACOT7', 'score': 1.28}, {'connected_gene': 'GC01P006262', 'score': 0.37}, {'connected_gene': 'ENSG00000271746', 'score': 0.13}]
chr1 GH01I006327 6327963 6332120 0.86 [{'connected_gene': 'ESPN', 'score': 19.71}, {'connected_gene': 'RNF207', 'score': 9.55}, {'connected_gene': 'GPR153', 'score': 5.94}, {'connected_gene': 'ACOT7', 'score': 5.67}, {'connected_gene': 'ENSG00000271746', 'score': 0.21}, {'connected_gene': 'GC01P006262', 'score': 0.2}]
chr1 GH01I006320 6320534 6321429 0.31 [{'connected_gene': 'ESPN', 'score': 19.05}, {'connected_gene': 'GPR153', 'score': 6.11}, {'connected_gene': 'ACOT7', 'score': 5.65}, {'connected_gene': 'GC01P006262', 'score': 0.22}, {'connected_gene': 'ENSG00000271746', 'score': 0.19}]
chr1 GH01I006313 6313463 6313839 0.54 [{'connected_gene': 'ESPN', 'score': 20.08}, {'connected_gene': 'ZBTB48', 'score': 3.5}, {'connected_gene': 'ACOT7', 'score': 2.11}, {'connected_gene': 'GPR153', 'score': 1.7}, {'connected_gene': 'GC01P006262', 'score': 0.23}, {'connected_gene': 'ENSG00000271746', 'score': 0.18}]
chr1 GH01I006299 6299190 6303682 1.07 [{'connected_gene': 'ESPN', 'score': 18.97}, {'connected_gene': 'ACOT7', 'score': 5.85}, {'connected_gene': 'ZBTB48', 'score': 3.34}, {'connected_gene': 'PLEKHG5', 'score': 2.75}, {'connected_gene': 'GPR153', 'score': 2.15}, {'connected_gene': 'HES2', 'score': 2.06}, {'connected_gene': 'THAP3', 'score': 1.97}, {'connected_gene': 'NPHP4', 'score': 1.56}, {'connected_gene': 'GC01P006262', 'score': 0.26}, {'connected_gene': 'ENSG00000271746', 'score': 0.16}]
chr1 GH01I006290 6290072 6292388 1.2 [{'connected_gene': 'ESPN', 'score': 13.81}, {'connected_gene': 'ACOT7', 'score': 6.98}, {'connected_gene': 'ZBTB48', 'score': 4.03}, {'connected_gene': 'GPR153', 'score': 1.91}, {'connected_gene': 'GC01P006262', 'score': 0.31}, {'connected_gene': 'ENSG00000271746', 'score': 0.15}]
chr1 GH01I006244 6244780 6246696 1.75 [{'connected_gene': 'HES3', 'score': 550.77}, {'connected_gene': 'GPR153', 'score': 14.98}]
chr1 GH01I006245 6244501 6244650 0.51 [{'connected_gene': 'HES3', 'score': 550.77}, {'connected_gene': 'GPR153', 'score': 0.37}]
chr1 GH01I006260 6259429 6259488 0.81 [{'connected_gene': 'GPR153', 'score': 550.77}, {'connected_gene': 'GC01P006262', 'score': 550.77}, {'connected_gene': 'HES3', 'score': 0.37}]
chr1 GH01I006256 6256761 6256910 0.46 [{'connected_gene': 'GPR153', 'score': 20.43}, {'connected_gene': 'HES3', 'score': 0.39}]
chr1 GH01I006257 6257661 6257810 0.2 [{'connected_gene': 'GPR153', 'score': 21.4}, {'connected_gene': 'HES3', 'score': 0.39}]
chr1 GH01I006259 6259681 6264315 2.35 [{'connected_gene': 'GPR153', 'score': 572.89}, {'connected_gene': 'GC01P006262', 'score': 550.77}, {'connected_gene': 'ICMT', 'score': 18.67}, {'connected_gene': 'LINC00337', 'score': 12.7}, {'connected_gene': 'RPL22', 'score': 10.53}, {'connected_gene': 'RNF207', 'score': 10.52}, {'connected_gene': 'LOC102724450', 'score': 10.52}, {'connected_gene': 'CHD5', 'score': 10.52}, {'connected_gene': 'NOL9', 'score': 10.26}, {'connected_gene': 'THAP3', 'score': 1.99}, {'connected_gene': 'ACOT7', 'score': 0.12}, {'connected_gene': 'ENSG00000271746', 'score': 0.12}]
chr1 GH01I006238 6238037 6242725 1.24 [{'connected_gene': 'GPR153', 'score': 11.29}, {'connected_gene': 'LINC00337', 'score': 10.36}, {'connected_gene': 'ICMT', 'score': 5.27}, {'connected_gene': 'HES3', 'score': 0.77}]
chr1 GH01I006326 6325949 6326285 0.31 [{'connected_gene': 'GPR153', 'score': 6.05}, {'connected_gene': 'GC01P006262', 'score': 0.21}, {'connected_gene': 'ENSG00000271746', 'score': 0.2}, {'connected_gene': 'ACOT7', 'score': 0.2}]
chr1 GH01I006247 6246781 6246990 1.06 [{'connected_gene': 'ICMT', 'score': 7.13}, {'connected_gene': 'HES3', 'score': 0.77}, {'connected_gene': 'GPR153', 'score': 0.39}]
chr1 GH01I006233 6233275 6236706 2.02 [{'connected_gene': 'ICMT', 'score': 568.99}, {'connected_gene': 'LINC00337', 'score': 562.66}, {'connected_gene': 'ZBTB48', 'score': 21.74}, {'connected_gene': 'RPL22', 'score': 11.28}, {'connected_gene': 'THAP3', 'score': 11.15}, {'connected_gene': 'NOL9', 'score': 10.08}, {'connected_gene': 'GPR153', 'score': 7.82}, {'connected_gene': 'RNF207', 'score': 5.4}]
chr1 GH01I006281 6281147 6283232 1.15 [{'connected_gene': 'ACOT7', 'score': 1.97}, {'connected_gene': 'GPR153', 'score': 1.75}, {'connected_gene': 'GC01P006262', 'score': 0.34}, {'connected_gene': 'ENSG00000271746', 'score': 0.14}]