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
ENST00000581033 [[39164772, 39165297], [39173041, 39173113], [39175517, 39175576]] None
ENST00000391588 [[39164775, 39165366]] [[39165029, 39165326]]
NM_031958 [[39164772, 39165366]] [[39165029, 39165326]]
Promoter
Chrom Start End Description
chr17 39165376 39165381 CAGE_peak_1_at_KRTAP3-1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041015 41013549 41013698 0.63 [{'connected_gene': 'KRTAP3-4P', 'score': 0.44}, {'connected_gene': 'KRTAP3-1', 'score': 0.44}]
chr17 GH17I041013 41013829 41013978 0.64 [{'connected_gene': 'KRTAP3-4P', 'score': 0.44}, {'connected_gene': 'KRTAP3-1', 'score': 0.44}]
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 GH17I041010 41009142 41009201 0.97 [{'connected_gene': 'KRTAP3-1', 'score': 550.39}, {'connected_gene': 'KRTAP3-4P', 'score': 0.77}]
chr17 GH17I041506 41506481 41506658 1.09 [{'connected_gene': 'KRT13', 'score': 552.43}, {'connected_gene': 'KRT9', 'score': 10.18}, {'connected_gene': 'KRT36', 'score': 5.63}, {'connected_gene': 'KRTAP3-1', 'score': 5.13}, {'connected_gene': 'JUP', 'score': 3.25}, {'connected_gene': 'KRT19', 'score': 2.72}, {'connected_gene': 'MIR6510', 'score': 0.39}]
chr17 GH17I041014 41013044 41013529 0.52 [{'connected_gene': 'KRT23', 'score': 9.72}, {'connected_gene': 'KRTAP3-4P', 'score': 0.44}, {'connected_gene': 'KRTAP3-1', 'score': 0.44}]
chr17 GH17I041009 41009329 41009538 0.9 [{'connected_gene': 'KRT23', 'score': 9.73}, {'connected_gene': 'KRTAP3-4P', 'score': 0.77}, {'connected_gene': 'KRTAP3-1', 'score': 0.44}]
chr17 GH17I040900 40900290 40905306 1.42 [{'connected_gene': 'KRT23', 'score': 14.48}, {'connected_gene': 'SNORD124', 'score': 12.38}, {'connected_gene': 'KRT12', 'score': 10.98}, {'connected_gene': 'TMEM99', 'score': 10.06}, {'connected_gene': 'KRT28', 'score': 9.87}, {'connected_gene': 'KRTAP3-2', 'score': 9.77}, {'connected_gene': 'KRT40', 'score': 9.73}, {'connected_gene': 'KRT37', 'score': 9.68}, {'connected_gene': 'KRT38', 'score': 9.3}, {'connected_gene': 'KRT26', 'score': 9.14}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'GC17P040955', 'score': 0.37}, {'connected_gene': 'KRT20', 'score': 0.37}, {'connected_gene': 'LOC105371777', 'score': 0.23}]
chr17 GH17I040896 40896291 40897444 0.2 [{'connected_gene': 'ENSG00000234477', 'score': 11.09}, {'connected_gene': 'KRT12', 'score': 11.02}, {'connected_gene': 'KRT40', 'score': 9.71}, {'connected_gene': 'KRT28', 'score': 9.52}, {'connected_gene': 'TMEM99', 'score': 9.49}, {'connected_gene': 'KRT26', 'score': 9.15}, {'connected_gene': 'KRTAP3-1', 'score': 8.61}, {'connected_gene': 'KRT23', 'score': 7.42}, {'connected_gene': 'GC17P040941', 'score': 0.39}, {'connected_gene': 'KRT20', 'score': 0.39}, {'connected_gene': 'GC17P040955', 'score': 0.34}, {'connected_gene': 'LOC105371777', 'score': 0.25}]