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
ENST00000471660 [[87276420, 87276706], [87294863, 87295058], [87299024, 87299127], [87302553, 87302660], [87302861, 87303064]] [[87276703, 87276706], [87294863, 87295058], [87299024, 87299127], [87302553, 87302660], [87302861, 87302972]]
ENST00000263780 [[87276434, 87276706], [87289848, 87289940], [87294863, 87295058], [87299024, 87299127], [87302553, 87302660], [87302861, 87304698]] [[87276672, 87276706], [87289848, 87289940], [87294863, 87295058], [87299024, 87299127], [87302553, 87302660], [87302861, 87302972]]
ENST00000494980 [[87276451, 87276706], [87289848, 87289940], [87294863, 87294968], [87299024, 87299127], [87302553, 87302660], [87302861, 87303076]] [[87276672, 87276706], [87289848, 87289940], [87294863, 87294968], [87299024, 87299127], [87302553, 87302660], [87302861, 87302972]]
ENST00000472024 [[87276458, 87276706], [87289472, 87289603], [87289848, 87289940], [87294863, 87295058], [87299024, 87299127], [87302553, 87302620]] None
ENST00000466696 [[87302198, 87302660], [87302861, 87303063]] None
NM_001244644 [[87276412, 87276706], [87294863, 87295058], [87299024, 87299127], [87302553, 87302660], [87302861, 87304698]] [[87276703, 87276706], [87294863, 87295058], [87299024, 87299127], [87302553, 87302660], [87302861, 87302972]]
NM_014043 [[87276412, 87276706], [87289848, 87289940], [87294863, 87295058], [87299024, 87299127], [87302553, 87302660], [87302861, 87304698]] [[87276672, 87276706], [87289848, 87289940], [87294863, 87295058], [87299024, 87299127], [87302553, 87302660], [87302861, 87302972]]
Promoter
Chrom Start End Description
chr3 87276407 87276493 CAGE_peak_1_at_CHMP2B_5end
chr3 87276496 87276507 CAGE_peak_2_at_CHMP2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I087172 87172820 87173742 0.2 [{'connected_gene': 'VGLL3', 'score': 10.61}, {'connected_gene': 'CHMP2B', 'score': 7.68}, {'connected_gene': 'MIR4795', 'score': 0.23}, {'connected_gene': 'LINC00506', 'score': 0.18}]
chr3 GH03I087069 87069296 87071348 0.63 [{'connected_gene': 'VGLL3', 'score': 11.42}, {'connected_gene': 'CHMP2B', 'score': 6.47}, {'connected_gene': 'PPATP1', 'score': 0.37}, {'connected_gene': 'LINC00506', 'score': 0.37}]
chr3 GH03I087270 87270984 87272092 0.69 [{'connected_gene': 'CHMP2B', 'score': 6.38}, {'connected_gene': 'POU1F1', 'score': 0.44}]
chr3 GH03I087317 87317642 87322704 0.63 [{'connected_gene': 'CHMP2B', 'score': 9.92}, {'connected_gene': 'KRT8P25', 'score': 0.77}, {'connected_gene': 'POU1F1', 'score': 0.26}, {'connected_gene': 'GC03M087306', 'score': 0.26}]
chr3 GH03I087309 87309606 87310468 0.2 [{'connected_gene': 'CHMP2B', 'score': 8.28}, {'connected_gene': 'KRT8P25', 'score': 0.39}, {'connected_gene': 'POU1F1', 'score': 0.29}, {'connected_gene': 'GC03M087306', 'score': 0.23}]
chr3 GH03I087332 87332620 87334813 1.5 [{'connected_gene': 'CHMP2B', 'score': 6.0}, {'connected_gene': 'KRT8P25', 'score': 0.39}, {'connected_gene': 'GC03M087306', 'score': 0.31}]
chr3 GH03I087335 87335093 87336305 0.31 [{'connected_gene': 'CHMP2B', 'score': 8.24}, {'connected_gene': 'KRT8P25', 'score': 0.39}, {'connected_gene': 'GC03M087306', 'score': 0.31}]
chr3 GH03I086949 86949951 86950150 0.64 [{'connected_gene': 'CHMP2B', 'score': 1.42}, {'connected_gene': 'LOC105377196', 'score': 0.39}, {'connected_gene': 'VGLL3', 'score': 0.26}]
chr3 GH03I087226 87226401 87229001 1.97 [{'connected_gene': 'CHMP2B', 'score': 557.94}, {'connected_gene': 'MIR4795', 'score': 550.77}, {'connected_gene': 'POU1F1', 'score': 0.25}]
chr3 GH03I087090 87090801 87091000 0.2 [{'connected_gene': 'LINC00506', 'score': 550.77}, {'connected_gene': 'CHMP2B', 'score': 6.86}, {'connected_gene': 'MIR4795', 'score': 0.12}]