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
ENST00000381842 [[11418856, 11418962], [11420108, 11420335], [11420336, 11420452], [11420578, 11421082], [11421566, 11421602], [11422539, 11422641]] [[11420125, 11420335], [11420336, 11420452], [11420578, 11421082], [11421566, 11421602], [11422539, 11422603]]
ENST00000279573 [[11418888, 11418962], [11420108, 11421082], [11421566, 11421602], [11422539, 11422739]] [[11420291, 11421082], [11421566, 11421602], [11422539, 11422603]]
ENST00000440870 [[11418889, 11418962], [11420108, 11420359], [11420926, 11421082], [11421566, 11421602], [11422539, 11422641]] None
ENST00000538488 [[11418889, 11418962], [11420108, 11420335], [11420336, 11420452], [11420515, 11420767], [11420830, 11421082], [11421566, 11421602], [11422539, 11422641]] [[11420125, 11420335], [11420336, 11420452], [11420515, 11420767], [11420830, 11421082], [11421566, 11421602], [11422539, 11422603]]
ENST00000539835 [[11420713, 11421082], [11421566, 11421673]] None
NM_006249 [[11418846, 11418962], [11420108, 11420333], [11420334, 11420407], [11420533, 11421082], [11421566, 11421602], [11422539, 11422641]] [[11420125, 11420333], [11420334, 11420407], [11420533, 11421082], [11421566, 11421602], [11422539, 11422603]]
Promoter
Chrom Start End Description
chr12 11421586 11421606 CAGE_peak_2_at_PRB3_5end
chr12 11422630 11422648 CAGE_peak_1_at_PRB3_5end
chr12 11422801 11422812 CAGE_peak_4_at_PRB3_5end
chr12 11422834 11422844 CAGE_peak_3_at_PRB3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I011307 11307711 11307762 0.22 [{'connected_gene': 'PRB1', 'score': 67.61}, {'connected_gene': 'PRB4', 'score': 65.32}, {'connected_gene': 'PRB3', 'score': 64.82}, {'connected_gene': 'PRB2', 'score': 64.63}, {'connected_gene': 'PRH1', 'score': 37.43}, {'connected_gene': 'PRH2', 'score': 29.77}]
chr12 GH12I011269 11269697 11269756 0.5 [{'connected_gene': 'PRB3', 'score': 550.77}, {'connected_gene': 'PIR33674', 'score': 0.77}]