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
ENST00000249299 [[117824085, 117824308], [117825707, 117825748], [117828331, 117828459], [117831965, 117832878]] [[117824277, 117824308], [117825707, 117825748], [117828331, 117828459], [117831965, 117832056]]
ENST00000424702 [[117824197, 117824308], [117825707, 117825748], [117828331, 117832209]] [[117824277, 117824308], [117825707, 117825748], [117828331, 117828463]]
ENST00000422760 [[117824209, 117825748], [117828331, 117828459], [117831965, 117832218]] [[117825739, 117825748], [117828331, 117828459], [117831965, 117832056]]
ENST00000411938 [[117824220, 117824334], [117825700, 117825748], [117828331, 117828459]] [[117824277, 117824334], [117825700, 117825748], [117828331, 117828459]]
NM_016200 [[117824085, 117824308], [117825707, 117825748], [117828331, 117828459], [117831965, 117844093]] [[117824277, 117824308], [117825707, 117825748], [117828331, 117828459], [117831965, 117832056]]
Promoter
Chrom Start End Description
chr7 117824159 117824202 CAGE_peak_2_at_NAA38_5end
chr7 117824210 117824230 CAGE_peak_1_at_NAA38_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I117871 117871461 117874136 1.88 [{'connected_gene': 'CTTNBP2', 'score': 561.76}, {'connected_gene': 'LOC101929527', 'score': 550.77}, {'connected_gene': 'LSM8', 'score': 14.61}, {'connected_gene': 'LOC105375469', 'score': 0.1}]
chr7 GH07I118214 118214001 118215200 1.22 [{'connected_gene': 'ANKRD7', 'score': 555.89}, {'connected_gene': 'LSM8', 'score': 29.02}]
chr7 GH07I117773 117773402 117774400 0.92 [{'connected_gene': 'LSM8', 'score': 30.07}, {'connected_gene': 'CTTNBP2', 'score': 9.98}, {'connected_gene': 'CAPZA2', 'score': 5.94}, {'connected_gene': 'CFTR', 'score': 4.88}, {'connected_gene': 'LOC105375469', 'score': 0.22}, {'connected_gene': 'LOC101929527', 'score': 0.15}]
chr7 GH07I118078 118078594 118081812 0.95 [{'connected_gene': 'LSM8', 'score': 17.3}, {'connected_gene': 'CTTNBP2', 'score': 9.82}, {'connected_gene': 'PIR57573', 'score': 0.18}, {'connected_gene': 'ENSG00000234826', 'score': 0.18}]
chr7 GH07I118311 118311061 118312288 1.2 [{'connected_gene': 'LSM8', 'score': 16.81}, {'connected_gene': 'ANKRD7', 'score': 4.86}, {'connected_gene': 'LOC102724495', 'score': 0.23}, {'connected_gene': 'LOC105375471', 'score': 0.13}]
chr7 GH07I118232 118232413 118233562 0.2 [{'connected_gene': 'LSM8', 'score': 8.56}, {'connected_gene': 'PIR33334', 'score': 0.44}, {'connected_gene': 'GC07P118225', 'score': 0.44}, {'connected_gene': 'ANKRD7', 'score': 0.37}, {'connected_gene': 'LOC102724495', 'score': 0.31}]
chr7 GH07I118195 118195967 118196116 0.6 [{'connected_gene': 'LSM8', 'score': 0.39}, {'connected_gene': 'ANKRD7', 'score': 0.37}]
chr7 GH07I117630 117630547 117630736 0.38 [{'connected_gene': 'LSM8', 'score': 18.27}, {'connected_gene': 'CFTR-AS1', 'score': 10.42}, {'connected_gene': 'ENSG00000083622', 'score': 0.37}, {'connected_gene': 'ENSG00000234001', 'score': 0.26}, {'connected_gene': 'CFTR', 'score': 0.1}]
chr7 GH07I118182 118182337 118186246 2.08 [{'connected_gene': 'LSM8', 'score': 583.93}, {'connected_gene': 'LOC105375470', 'score': 550.77}, {'connected_gene': 'ANKRD7', 'score': 7.45}]
chr7 GH07I117791 117791516 117792912 1.19 [{'connected_gene': 'LSM8', 'score': 12.92}, {'connected_gene': 'LOC105375469', 'score': 0.18}, {'connected_gene': 'CTTNBP2', 'score': 0.18}, {'connected_gene': 'LOC101929527', 'score': 0.18}]
chr7 GH07I118288 118288001 118288400 0.46 [{'connected_gene': 'LSM8', 'score': 5.56}, {'connected_gene': 'LOC102724495', 'score': 0.31}, {'connected_gene': 'ANKRD7', 'score': 0.19}, {'connected_gene': 'LOC105375471', 'score': 0.12}]
chr7 GH07I118152 118152017 118152856 0.2 [{'connected_gene': 'CFTR', 'score': 10.04}, {'connected_gene': 'LSM8', 'score': 5.14}, {'connected_gene': 'PIR57573', 'score': 0.77}, {'connected_gene': 'LOC105375470', 'score': 0.29}, {'connected_gene': 'ENSG00000234826', 'score': 0.11}]