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
ENST00000377721 [[39382899, 39383904]] [[39382906, 39383431]]
ENST00000455970 [[39382906, 39383119], [39383167, 39383431]] [[39382906, 39383119], [39383167, 39383431]]
NM_031961 [[39382899, 39383904]] [[39382906, 39383431]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041232 41232400 41232459 0.61 [{'connected_gene': 'KRTAP9-3', 'score': 550.77}, {'connected_gene': 'KRTAP9-2', 'score': 0.44}]
chr17 GH17I041226 41226553 41226612 0.73 [{'connected_gene': 'KRTAP9-2', 'score': 550.77}, {'connected_gene': 'KRTAP9-12P', 'score': 0.39}]
chr17 GH17I040948 40948885 40960541 1.66 [{'connected_gene': 'KRTAP3-2', 'score': 14.79}, {'connected_gene': 'KRT23', 'score': 14.29}, {'connected_gene': 'KRTAP2-1', 'score': 12.09}, {'connected_gene': 'KRT39', 'score': 11.35}, {'connected_gene': 'KRT40', 'score': 10.72}, {'connected_gene': 'KRTAP2-2', 'score': 10.64}, {'connected_gene': 'ENSG00000234477', 'score': 10.6}, {'connected_gene': 'KRTAP3-3', 'score': 10.48}, {'connected_gene': 'KRTAP1-5', 'score': 10.4}, {'connected_gene': 'KRTAP3-1', 'score': 10.15}, {'connected_gene': 'KRTAP1-4', 'score': 9.98}, {'connected_gene': 'KRTAP2-3', 'score': 9.98}, {'connected_gene': 'KRT20', 'score': 9.83}, {'connected_gene': 'KRTAP4-6', 'score': 9.53}, {'connected_gene': 'LOC100505782', 'score': 9.45}, {'connected_gene': 'KRT19', 'score': 9.43}, {'connected_gene': 'KRT15', 'score': 9.42}, {'connected_gene': 'KRT31', 'score': 9.3}, {'connected_gene': 'KRT34', 'score': 4.8}, {'connected_gene': 'KRTAP9-2', 'score': 1.36}]
chr17 GH17I041352 41352992 41353325 0.66 [{'connected_gene': 'KRTAP2-1', 'score': 12.89}, {'connected_gene': 'KRTAP9-1', 'score': 9.33}, {'connected_gene': 'KRTAP2-2', 'score': 9.26}, {'connected_gene': 'KRTAP9-2', 'score': 8.89}, {'connected_gene': 'KRTAP9-9', 'score': 8.32}, {'connected_gene': 'KRT37', 'score': 4.16}, {'connected_gene': 'KRT40', 'score': 2.89}, {'connected_gene': 'KRTAP2-4', 'score': 1.96}, {'connected_gene': 'KRT35', 'score': 1.57}, {'connected_gene': 'KRT38', 'score': 1.52}, {'connected_gene': 'KRT33A', 'score': 0.77}, {'connected_gene': 'KRT33B', 'score': 0.37}]
chr17 GH17I041518 41518469 41532039 2.8 [{'connected_gene': 'KRT19', 'score': 562.19}, {'connected_gene': 'KRT15', 'score': 556.16}, {'connected_gene': 'ENSG00000267758', 'score': 25.12}, {'connected_gene': 'SMARCE1', 'score': 21.17}, {'connected_gene': 'ACLY', 'score': 11.64}, {'connected_gene': 'DHX58', 'score': 11.19}, {'connected_gene': 'KRT36', 'score': 11.12}, {'connected_gene': 'ENSG00000259623', 'score': 11.03}, {'connected_gene': 'KRT14', 'score': 10.86}, {'connected_gene': 'STAT5A', 'score': 10.08}, {'connected_gene': 'LOC100505782', 'score': 9.78}, {'connected_gene': 'KRT31', 'score': 9.7}, {'connected_gene': 'ENSG00000234477', 'score': 9.36}, {'connected_gene': 'KRTAP9-2', 'score': 2.53}, {'connected_gene': 'KRTAP2-1', 'score': 2.23}, {'connected_gene': 'KRTAP2-2', 'score': 1.8}, {'connected_gene': 'KRTAP9-9', 'score': 1.75}, {'connected_gene': 'KRTAP9-1', 'score': 1.75}, {'connected_gene': 'KRTAP4-11', 'score': 1.59}, {'connected_gene': 'JUP', 'score': 1.55}]
chr17 GH17I041557 41557145 41557543 0.22 [{'connected_gene': 'GC17M041544', 'score': 550.77}, {'connected_gene': 'KRTAP9-2', 'score': 21.61}, {'connected_gene': 'KRTAP9-1', 'score': 12.68}, {'connected_gene': 'KRTAP9-9', 'score': 11.79}, {'connected_gene': 'KRT16', 'score': 7.03}, {'connected_gene': 'KRT37', 'score': 4.05}, {'connected_gene': 'KRTAP2-4', 'score': 2.3}, {'connected_gene': 'KRT38', 'score': 2.26}, {'connected_gene': 'KRT35', 'score': 1.97}, {'connected_gene': 'KRT9', 'score': 0.39}]
chr17 GH17I041499 41499613 41500932 1.52 [{'connected_gene': 'ENSG00000229732', 'score': 550.77}, {'connected_gene': 'KRTAP2-1', 'score': 7.15}, {'connected_gene': 'KRTAP9-2', 'score': 5.39}, {'connected_gene': 'KRT38', 'score': 5.38}, {'connected_gene': 'KRTAP2-2', 'score': 5.25}, {'connected_gene': 'KRTAP9-1', 'score': 5.17}, {'connected_gene': 'KRTAP9-9', 'score': 4.78}, {'connected_gene': 'KRT34', 'score': 4.16}, {'connected_gene': 'KRT37', 'score': 2.64}, {'connected_gene': 'KRTAP2-4', 'score': 1.58}, {'connected_gene': 'KRT36', 'score': 0.44}]
chr17 GH17I041534 41534567 41539918 1.26 [{'connected_gene': 'ENSG00000267758', 'score': 13.96}, {'connected_gene': 'SMARCE1', 'score': 12.9}, {'connected_gene': 'KRT36', 'score': 10.58}, {'connected_gene': 'STAT5A', 'score': 10.55}, {'connected_gene': 'KRT35', 'score': 10.53}, {'connected_gene': 'GHDC', 'score': 10.37}, {'connected_gene': 'NAGLU', 'score': 10.16}, {'connected_gene': 'KRT31', 'score': 9.85}, {'connected_gene': 'LOC100505782', 'score': 9.85}, {'connected_gene': 'KRT19', 'score': 6.56}, {'connected_gene': 'KRTAP2-1', 'score': 6.27}, {'connected_gene': 'KRTAP2-2', 'score': 4.82}, {'connected_gene': 'KRTAP9-1', 'score': 4.79}, {'connected_gene': 'KRTAP9-2', 'score': 4.34}, {'connected_gene': 'KRTAP9-9', 'score': 4.24}, {'connected_gene': 'KRT37', 'score': 1.9}, {'connected_gene': 'LINC00974', 'score': 0.37}]