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
ENST00000327419 [[109292845, 109292989], [109294100, 109299840]] [[109294359, 109294953]]
NM_207645 [[109292845, 109292989], [109294100, 109299893]] [[109294359, 109294953]]
Promoter
Chrom Start End Description
chr11 109292868 109292875 CAGE_peak_3_at_C11orf87_5end
chr11 109292881 109292895 CAGE_peak_2_at_C11orf87_5end
chr11 109292899 109292926 CAGE_peak_1_at_C11orf87_5end
chr11 109295063 109295073 CAGE_peak_14_at_C11orf87_5end
chr11 109295082 109295092 CAGE_peak_18_at_C11orf87_5end
chr11 109295305 109295312 CAGE_peak_13_at_C11orf87_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I109695 109695254 109697446 0.56 [{'connected_gene': 'C11orf87', 'score': 4.71}, {'connected_gene': 'CCT6P5', 'score': 0.22}, {'connected_gene': 'LOC105369482', 'score': 0.13}]
chr11 GH11I109618 109618995 109620305 0.2 [{'connected_gene': 'C11orf87', 'score': 6.01}, {'connected_gene': 'CCT6P5', 'score': 0.37}, {'connected_gene': 'PIR75450', 'score': 0.37}]
chr11 GH11I109604 109604807 109605614 0.2 [{'connected_gene': 'C11orf87', 'score': 6.8}, {'connected_gene': 'PIR75450', 'score': 0.77}, {'connected_gene': 'CCT6P5', 'score': 0.29}]
chr11 GH11I109421 109421121 109421522 0.22 [{'connected_gene': 'C11orf87', 'score': 559.46}, {'connected_gene': 'GC11M109264', 'score': 0.1}, {'connected_gene': 'ENSG00000264997', 'score': 0.1}, {'connected_gene': 'ENSG00000255028', 'score': 0.1}]
chr11 GH11I109422 109422141 109422200 0.68 [{'connected_gene': 'C11orf87', 'score': 550.77}, {'connected_gene': 'GC11P109424', 'score': 550.77}, {'connected_gene': 'ENSG00000255028', 'score': 0.1}]
chr11 GH11I109300 109300155 109301849 0.31 [{'connected_gene': 'GC11M109264', 'score': 0.28}, {'connected_gene': 'ENSG00000264997', 'score': 0.28}, {'connected_gene': 'C11orf87', 'score': 0.13}]
chr11 GH11I109320 109320694 109320843 0.38 [{'connected_gene': 'GC11M109264', 'score': 0.22}, {'connected_gene': 'ENSG00000264997', 'score': 0.22}, {'connected_gene': 'C11orf87', 'score': 0.15}]