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
NM_182905 [[14510, 14940], [15080, 15149], [15908, 16061], [16717, 16876], [16964, 17166], [17343, 17479], [17718, 17855], [18027, 18174], [18380, 18492], [24850, 25004], [29601, 29739]] [[14806, 14940], [15080, 15149], [15908, 16061], [16717, 16876], [16964, 17166], [17343, 17479], [17718, 17855], [18027, 18174], [18380, 18492], [24850, 24999]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I000270 270399 275806 2.44 [{'connected_gene': 'DOCK8', 'score': 579.75}, {'connected_gene': 'ENSG00000235880', 'score': 566.03}, {'connected_gene': 'C9orf66', 'score': 26.77}, {'connected_gene': 'CBWD1', 'score': 23.23}, {'connected_gene': 'WASHC1', 'score': 6.38}, {'connected_gene': 'FOXD4', 'score': 5.76}, {'connected_gene': 'GC09M000242', 'score': 0.34}]
chr9 GH09I000289 289254 291694 0.38 [{'connected_gene': 'DOCK8', 'score': 17.9}, {'connected_gene': 'C9orf66', 'score': 12.2}, {'connected_gene': 'CBWD1', 'score': 5.72}, {'connected_gene': 'WASHC1', 'score': 5.14}, {'connected_gene': 'GC09M000242', 'score': 0.77}, {'connected_gene': 'ENSG00000235880', 'score': 0.37}]
chr9 GH09I000311 311365 312954 0.54 [{'connected_gene': 'DOCK8', 'score': 11.24}, {'connected_gene': 'C9orf66', 'score': 11.1}, {'connected_gene': 'CBWD1', 'score': 4.62}, {'connected_gene': 'WASHC1', 'score': 4.5}, {'connected_gene': 'GC09M000242', 'score': 0.37}, {'connected_gene': 'GC09P000333', 'score': 0.34}]
chr9 GH09I000268 268401 269796 1.2 [{'connected_gene': 'CBWD1', 'score': 31.99}, {'connected_gene': 'DOCK8', 'score': 15.35}, {'connected_gene': 'WASHC1', 'score': 12.78}, {'connected_gene': 'RPL12P25', 'score': 11.77}, {'connected_gene': 'C9orf66', 'score': 7.74}, {'connected_gene': 'KANK1', 'score': 1.16}, {'connected_gene': 'ENSG00000235880', 'score': 0.77}, {'connected_gene': 'GC09P000245', 'score': 0.34}, {'connected_gene': 'GC09M000242', 'score': 0.31}]
chr9 GH09I000303 303969 305340 0.74 [{'connected_gene': 'CBWD1', 'score': 6.46}, {'connected_gene': 'DOCK8', 'score': 6.09}, {'connected_gene': 'WASHC1', 'score': 5.05}, {'connected_gene': 'GC09M000242', 'score': 0.39}, {'connected_gene': 'GC09P000333', 'score': 0.31}]
chr9 GH09I000468 468354 471443 1.92 [{'connected_gene': 'KANK1', 'score': 550.77}, {'connected_gene': 'RPL12P25', 'score': 21.86}, {'connected_gene': 'WASHC1', 'score': 14.35}, {'connected_gene': 'CBWD1', 'score': 12.14}, {'connected_gene': 'FOXD4', 'score': 10.02}, {'connected_gene': 'ENSG00000227155', 'score': 0.34}, {'connected_gene': 'LOC105375945', 'score': 0.14}]
chr9 GH09I000028 28400 29601 0.5 [{'connected_gene': 'LOC102724813', 'score': 550.77}, {'connected_gene': 'ENSG00000227518', 'score': 550.77}, {'connected_gene': 'WASHC1', 'score': 550.77}, {'connected_gene': 'MIR1302-9', 'score': 550.77}, {'connected_gene': 'GC09M000028', 'score': 0.39}, {'connected_gene': 'LOC102724727', 'score': 0.34}]
chr9 GH09I000029 28057 28116 0.5 [{'connected_gene': 'LOC102724813', 'score': 550.77}, {'connected_gene': 'ENSG00000227518', 'score': 550.77}, {'connected_gene': 'WASHC1', 'score': 550.77}, {'connected_gene': 'MIR1302-9', 'score': 0.77}, {'connected_gene': 'LOC102724727', 'score': 0.34}]
chr9 GH09I000112 112857 115644 0.89 [{'connected_gene': 'LINC01388', 'score': 550.77}, {'connected_gene': 'PIR36916', 'score': 550.77}, {'connected_gene': 'PIR48620', 'score': 550.77}, {'connected_gene': 'GC09P000118', 'score': 550.77}, {'connected_gene': 'PIR58570', 'score': 550.77}, {'connected_gene': 'GC09P000117', 'score': 550.77}, {'connected_gene': 'CBWD1', 'score': 15.72}, {'connected_gene': 'WASHC1', 'score': 8.97}, {'connected_gene': 'FOXD4', 'score': 7.06}, {'connected_gene': 'GC09M000091', 'score': 0.77}]
chr9 GH09I000073 73200 74001 0.68 [{'connected_gene': 'PGM5P3', 'score': 550.77}, {'connected_gene': 'PGM5P3-AS1', 'score': 550.77}, {'connected_gene': 'WASHC1', 'score': 7.16}, {'connected_gene': 'ENSG00000227917', 'score': 0.31}]
chr9 GH09I000276 276228 282843 1.49 [{'connected_gene': 'WASHC1', 'score': 37.2}, {'connected_gene': 'DOCK8', 'score': 25.79}, {'connected_gene': 'CBWD1', 'score': 17.27}, {'connected_gene': 'RPL12P25', 'score': 13.81}, {'connected_gene': 'C9orf66', 'score': 12.69}, {'connected_gene': 'ENSG00000235880', 'score': 5.59}, {'connected_gene': 'GC09M000242', 'score': 0.39}]
chr9 GH09I000307 307061 307210 0.84 [{'connected_gene': 'WASHC1', 'score': 6.38}, {'connected_gene': 'GC09M000242', 'score': 0.39}, {'connected_gene': 'GC09P000333', 'score': 0.31}, {'connected_gene': 'DOCK8', 'score': 0.16}]
chr9 GH09I000800 800362 802851 0.69 [{'connected_gene': 'WASHC1', 'score': 4.44}, {'connected_gene': 'GC09P000774', 'score': 0.31}, {'connected_gene': 'LOC105375949', 'score': 0.31}]
chr9 GH09I000063 63001 64200 0.77 [{'connected_gene': 'WASHC1', 'score': 5.6}, {'connected_gene': 'GC09P000065', 'score': 0.77}, {'connected_gene': 'PGM5P3', 'score': 0.44}, {'connected_gene': 'GC09P000057', 'score': 0.44}]
chr9 GH09I000030 29781 29840 0.5 [{'connected_gene': 'WASHC1', 'score': 550.77}, {'connected_gene': 'MIR1302-9', 'score': 550.77}, {'connected_gene': 'ENSG00000227518', 'score': 0.77}, {'connected_gene': 'GC09M000028', 'score': 0.39}]
chr9 GH09I000021 21189 21800 0.2 [{'connected_gene': 'GC09M000020', 'score': 550.77}, {'connected_gene': 'GC09P000023', 'score': 0.77}, {'connected_gene': 'LOC102724813', 'score': 0.44}, {'connected_gene': 'WASHC1', 'score': 0.44}, {'connected_gene': 'LOC102724727', 'score': 0.37}]