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
ENST00000394014 [[39279342, 39280419]] [[39279768, 39280374]]
NM_031854 [[39279342, 39280419]] [[39279768, 39280374]]
Promoter
Chrom Start End Description
chr17 39280430 39280436 CAGE_peak_1_at_KRTAP4-12_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I041123 41123601 41124331 0.93 [{'connected_gene': 'KRTAP4-12', 'score': 550.77}, {'connected_gene': 'GC17P041125', 'score': 550.77}, {'connected_gene': 'KRTAP4-6', 'score': 8.05}, {'connected_gene': 'KRTAP4-11', 'score': 0.44}]
chr17 GH17I041120 41120194 41120879 0.2 [{'connected_gene': 'KRTAP4-6', 'score': 8.1}, {'connected_gene': 'KRTAP4-12', 'score': 0.77}, {'connected_gene': 'KRTAP4-11', 'score': 0.77}]
chr17 GH17I041099 41099600 41100001 0.72 [{'connected_gene': 'KRTAP4-8', 'score': 550.77}, {'connected_gene': 'GC17M041098', 'score': 550.77}, {'connected_gene': 'KRTAP4-12', 'score': 11.51}, {'connected_gene': 'KRTAP4-6', 'score': 9.97}, {'connected_gene': 'KRTAP4-16', 'score': 0.77}]
chr17 GH17I041100 41099309 41099550 0.31 [{'connected_gene': 'KRTAP4-8', 'score': 550.77}, {'connected_gene': 'GC17M041098', 'score': 550.77}, {'connected_gene': 'KRTAP4-12', 'score': 11.18}, {'connected_gene': 'KRTAP4-6', 'score': 5.21}, {'connected_gene': 'KRTAP4-16', 'score': 0.77}]
chr17 GH17I041098 41098061 41099176 0.81 [{'connected_gene': 'KRTAP4-8', 'score': 556.64}, {'connected_gene': 'GC17M041098', 'score': 550.77}, {'connected_gene': 'KRTAP4-12', 'score': 11.16}, {'connected_gene': 'KRTAP4-6', 'score': 9.0}, {'connected_gene': 'KRTAP4-16', 'score': 0.77}]
chr17 GH17I041118 41118362 41118421 0.5 [{'connected_gene': 'KRTAP4-11', 'score': 550.77}, {'connected_gene': 'KRTAP4-6', 'score': 10.24}, {'connected_gene': 'KRTAP4-12', 'score': 0.44}]